The American College of Medical Genetics and Genomics (ACMG) is a professional organization with a vision to advance the practice of medical genetics and genomics by providing guidance and resources for genetic testing, counseling, and research. The ACMG also promotes education and awareness of genetics's importance in healthcare and advocates for the ethical and responsible use of genetic information. The ACMG Annual Meeting is a significant event that brings together experts worldwide to share knowledge, discuss advancements, and offer presentations, workshops, and networking opportunities for professionals in various specialties. The abstracts presented at the meetings are available free of charge to the community.
In this article, we demonstrate the utility of Nucleati Germline Cancer Evidence base in a real-world scenario where a variant has been found from typical sequencing or panel assay and published evidence in the form of case reports, case series, or GWAS studies may help to strengthen the association with patient's phenotype. First, we collected 54 abstracts presented under the "Cancer Genetics and Therapeutics" category from the Genetics in Medicine ACMG 2023 meeting supplement. Next, we manually collected information about genes and variants. Out of 54 abstracts, 16 articles mention genes and variants in the abstract. We used this information to search Nucleati Germline Cancer Evidence Base. Table 1 summarizes the retrieved case reports, case series data, and GWAS studies identified from Nucleati Germline Cancer Evidence Base.
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | History | Zygosity | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|---|---|
TP53 gene BRCA1 gene | ashkenazi | double heterozygous | c.5266dup p.Gly245Ser c.733C>A | BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) TP53:c.337G>A (p.Gly113Ser) TP53:c.616G>A (p.Gly206Ser) TP53:c.256G>A (p.Gly86Ser) BRCA1:c.1513dup (p.Thr506Hisfs) BRCA1:c.1486dup (p.Thr497Hisfs) BRCA1:c.1090dup (p.Thr365Hisfs) BRCA1:c.5326dup (p.Thr1777Hisfs) BRCA1:c.5328dup (p.Thr1777fs) BRCA1:c.5187dup (p.Thr1730fs) BRCA1:c.2016dup (p.Thr673fs) BRCA1:c.2014dup (p.Thr673Hisfs) BRCA1:c.5391dup (p.Thr1798fs) BRCA1:c.2290dup (p.Tyr764Leufs) BRCA1:c.2287dup (p.Tyr763Leufs) BRCA1:c.2224dup (p.Tyr742Leufs) BRCA1:c.2221dup (p.Tyr741Leufs) BRCA1:c.5266dup (p.Gln1756ProfsTer?) BRCA1:c.5125dup (p.Gln1709ProfsTer?) BRCA1:c.1954dup (p.Gln652ProfsTer?) BRCA1:c.5329dup (p.Gln1777ProfsTer?) BRCA1:c.1720dup (p.Tyr574Leufs) BRCA1:c.1693dup (p.Tyr565Leufs) BRCA1:c.1297dup (p.Tyr433Leufs) BRCA1:c.5533dup (p.Tyr1845Leufs) BRCA1:c.5533dup (p.Tyr1845fs) BRCA1:c.5392dup (p.Tyr1798fs) BRCA1:c.2221dup (p.Tyr741fs) BRCA1:c.*47dup BRCA1:c.5596dup (p.Tyr1866fs) | Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations. Breast cancer research and treatment:2021 | ||||
TERT gene TP53 gene KRAS gene SPTA1 gene NCOR1 gene BRCA2 gene AXIN2 gene | Breast Carcinoma Paraganglioma Pancreatic Ductal Adenocarcinoma vulvar carcinoma breast and vulvar cancer | 72(year) | female | p.Gly245Ser c.602delT p.Gly12Asp p.Ala125Thr p.Ala2182Thr p.Lys3326Ter p.Ala758Thr | TP53:c.337G>A (p.Gly113Ser) TP53:c.616G>A (p.Gly206Ser) TP53:c.256G>A (p.Gly86Ser) KRAS:c.35G>A KRAS:c.35G>A (p.Gly12Asp) BRCA2:c.9976A>T BRCA2:c.9976A>T (p.Lys3326Ter) AXIN2:c.2272G>A AXIN2:c.2077G>A (p.Ala693Thr) AXIN2:c.2272G>A (p.Ala758Thr) | nucleaotide-sequencing Exome sequencing | Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen. Pathology, research and practice:2021 | ||
TP53 gene | Breast Carcinoma Li-Fraumeni Syndrome Autism Spectrum Disorders autism acute lymphoblastic leukemia | 14(year) | male | premenopausal | p.Gly245Ser c.733G>A | TP53:c.337G>A (p.Gly113Ser) TP53:c.616G>A (p.Gly206Ser) TP53:c.256G>A (p.Gly86Ser) | sanger sequencing | Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? Molecular and cellular pediatrics:2017 |
Gene | Symptoms or Disease | Total Cases | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|
TP53 gene | Adenoma of large intestine Colorectal Carcinoma colorectal | 70 | p.Gly245Ser p.Arg175Gly p.Glu285Gln p.Gly245Arg p.Gln144His p.Thr150Arg | TP53:c.337G>A (p.Gly113Ser) TP53:c.616G>A (p.Gly206Ser) TP53:c.256G>A (p.Gly86Ser) TP53:c.127C>G (p.Arg43Gly) TP53:c.406C>G (p.Arg136Gly) TP53:c.46C>G (p.Arg16Gly) TP53:c.337G>C (p.Gly113Arg) TP53:c.616G>C (p.Gly206Arg) TP53:c.256G>C (p.Gly86Arg) TP53:c.36G>T (p.Gln12His) TP53:c.315G>T (p.Gln105His) TP53:c.-46G>T | point mutation | The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas. Gut:2002 | ||
TP53 gene | Colorectal Carcinoma liposarcoma Li-Fraumeni Syndrome | 84 | p.Gly245Ser | TP53:c.338G>A (p.Gly113Asp) TP53:c.617G>A (p.Gly206Asp) TP53:c.257G>A (p.Gly86Asp) TP53:c.337G>A (p.Gly113Ser) TP53:c.616G>A (p.Gly206Ser) TP53:c.256G>A (p.Gly86Ser) | missense mutation | A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. Cancer genetics and cytogenetics:2003 | ||
TP53 gene | Choroid Plexus Carcinoma Adrenocortical carcinoma Li-Fraumeni Syndrome choroid plexus carcinomas li-fraumeni-like syndrome pediatric cancers | homozygous | p.Gly245Ser p.Arg337His | TP53:c.337G>A (p.Gly113Ser) TP53:c.616G>A (p.Gly206Ser) TP53:c.256G>A (p.Gly86Ser) TP53:c.614G>A (p.Arg205His) TP53:c.*117G>A TP53:c.*29G>A TP53:c.893G>A (p.Arg298His) TP53:c.533G>A (p.Arg178His) | nucleaotide-sequencing | Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. Cancer:2013 |
Gene | Symptoms or Disease | Patient's Age | Patient's Ethnicity | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | Pathogenicity | Citation |
---|---|---|---|---|---|---|---|---|---|---|
RET gene SDHD gene | Pheochromocytoma bilateral carotid body tumor head and neck multiple pgl republic beijing capital tongren multiple paraganglioma | chinese | c.3247A>G c.387_393_387400del | SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | nucleaotide-sequencing | SDHx gene detection and clinical Phenotypic analysis of multiple paraganglioma in the head and neck. The Laryngoscope:2019 | ||||
SDHD gene | Paraganglioma paraganglioma syndrome type 1 bilateral glomus vagale tumors right-sided glomus jugulare tumor | heterozygous | p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | missense mutation | A legacy of tinnitus: multiple head and neck paragangliomas. Rare tumors:2009 | ||||
SDHD gene | hnpgl head and neck paraganglioma | russian | p.Trp105Ter p.Tyr114Cys p.His102Arg p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.315G>A SDHD:c.170G>A (p.Trp57Ter) SDHD:c.198G>A (p.Trp66Ter) SDHD:c.*13G>A SDHD:c.315G>A (p.Trp105Ter) SDHD:c.197G>A (p.Trp66Ter) SDHD:c.314G>A (p.Trp105Ter) SDHD:c.169+1038G>A SDHD:c.314G>A SDHD:c.341A>G SDHD:c.196A>G (p.Met66Val) SDHD:c.224A>G (p.Tyr75Cys) SDHD:c.*39A>G SDHD:c.341A>G (p.Tyr114Cys) SDHD:c.305A>G SDHD:c.188A>G (p.His63Arg) SDHD:c.305A>G (p.His102Arg) SDHD:c.169+1029A>G | sanger sequencing | missense mutation | The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma. The International journal of neuroscience:2018 | |||
SDHB gene SDHD gene | Glomus Tumor Paraganglioma Pheochromocytoma malignant pheo pheos | heterozygous | c.IVS3+1G>A c.IVS2-1G>T p.Pro81Leu p.Gly106Asp p.Gln109Ter | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.335C>T SDHD:c.190C>T (p.Leu64=) SDHD:c.218C>T (p.Thr73Ile) SDHD:c.*33C>T SDHD:c.335C>T (p.Thr112Ile) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHD:c.317G>A SDHD:c.172G>A (p.Ala58Thr) SDHD:c.200G>A (p.Gly67Asp) SDHD:c.*15G>A SDHD:c.317G>A (p.Gly106Asp) SDHD:c.325C>T SDHD:c.180C>T (p.Asp60=) SDHD:c.208C>T (p.Gln70Ter) SDHD:c.*23C>T SDHD:c.325C>T (p.Gln109Ter) | nucleaotide-sequencing | SDH mutations in patients affected by paraganglioma syndromes: a personal experience. Annals of the New York Academy of Sciences:2006 | ||||
SDHAF2 gene SDHD gene | Glomus Jugulare Tumor Paraganglioma Pheochromocytoma | loss of heterozygosity | p.Pro81Leu c.242C>T | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. The Journal of clinical endocrinology and metabolism:2011 | |||||
SDHD gene | Paraganglioma Pheochromocytoma | 35(year) | loss of heterozygosity | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.290C>T SDHD:c.173C>T (p.Ala58Val) SDHD:c.290C>T (p.Ala97Val) SDHD:c.169+1014C>T | nucleaotide-sequencing western blot | pathogenic | Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report. The Journal of clinical endocrinology and metabolism:2014 | |||
SDHD gene SDHB gene | Kidney Neoplasm Malignant pheochromocytoma Pheochromocytoma hnpgl head and neck paragangliomas | 70 | p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | deletion premature stop | Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Human mutation:2010 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
SDHD gene | Paraganglioma Pheochromocytoma hereditary paraganglioma | p.Pro81Leu c.242C>T p.Arg38Ter p.Gly12Ser c.34G>A c.IVS1+2T>G | SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.52+2T>G SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | nonsense mutation | Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer research:2000 | |||||
MET gene TIMM8B gene SDHD gene | Paraganglioma mohr-tranebjaerg syndrome | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.191_192delTC SDHD:c.74_75del (p.Leu25fs) SDHD:c.191_192del (p.Leu64fs) SDHD:c.169+911TC[2] SDHD:c.3G>C SDHD:c.3G>C (p.Met1Ile) SDHD:c.161_163del (p.Tyr54del) SDHD:c.278_280del (p.Tyr93del) SDHD:c.169+1002_169+1004del SDHD:c.278_280delATT SDHD:c.94_95del SDHD:c.94_95del (p.Ala33fs) SDHD:c.94_95delTC SDHD:c.52+939_52+940del SDHD:c.1A>T SDHD:c.1A>T (p.Met1Leu) SDHD:c.3G>A SDHD:c.3G>A (p.Met1Ile) | premature stop deletion | autosomal dominant | Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes, chromosomes & cancer:2001 | |||||
SDHD gene | Paraganglioma Glomus Tumor hereditary paraganglioma hereditary paragangliomas | p.Leu139Pro p.Asp92Tyr | SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.157G>T (p.Asp53Tyr) SDHD:c.274G>T SDHD:c.274G>T (p.Asp92Tyr) SDHD:c.169+998G>T SDHD:c.416T>C SDHD:c.*13T>C SDHD:c.299T>C (p.Leu100Pro) SDHD:c.*114T>C SDHD:c.416T>C (p.Leu139Pro) SDHD:c.64C>T SDHD:c.64C>T (p.Arg22Ter) SDHD:c.52+909C>T SDHD:c.284T>C SDHD:c.167T>C (p.Leu56Pro) SDHD:c.284T>C (p.Leu95Pro) SDHD:c.169+1008T>C SDHD:c.209G>A SDHD:c.92G>A (p.Arg31Lys) SDHD:c.209G>A (p.Arg70Lys) SDHD:c.169+933G>A SDHD:c.315G>A SDHD:c.170G>A (p.Trp57Ter) SDHD:c.198G>A (p.Trp66Ter) SDHD:c.*13G>A SDHD:c.315G>A (p.Trp105Ter) SDHD:c.342T>A SDHD:c.197T>A (p.Met66Lys) SDHD:c.225T>A (p.Tyr75Ter) SDHD:c.*40T>A SDHD:c.342T>A (p.Tyr114Ter) SDHD:c.171del (p.Ala58fs) SDHD:c.288del (p.Ala97fs) SDHD:c.169+1012del | autosomal dominant | Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes, chromosomes & cancer:2001 | |||||
SDHD gene SDHC gene SDHB gene | Paraganglioma head and neck paragangliomas head and neck paraganglioma hereditary paraganglioma | 55 | 10 | p.Gln59Ter p.M71fs p.Pro131Arg p.L128fs p.Gln109Ter p.His102Leu p.Pro81Leu p.Arg38Ter | SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHB:c.210dup (p.Met71fs) SDHB:c.113G>A (p.Arg38His) SDHD:c.325C>T SDHD:c.180C>T (p.Asp60=) SDHD:c.208C>T (p.Gln70Ter) SDHD:c.*23C>T SDHD:c.325C>T (p.Gln109Ter) SDHD:c.305A>T SDHD:c.188A>T (p.His63Leu) SDHD:c.305A>T (p.His102Leu) SDHD:c.169+1029A>T | nucleaotide-sequencing | Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. Journal of medical genetics:2002 | |||
SDHD gene SDHC gene SDHB gene | Pheochromocytoma head and neck paraganglioma | 30 | c.204C>T p.Pro81Leu | SDHB:c.590C>G (p.Pro197Arg) SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clinical endocrinology:2003 | |||||
SDHD gene | Pheochromocytoma Paraganglioma hereditary paraganglioma type 1 | 58 | 23 | SDHD:c.106C>T (p.Gln36Ter) SDHD:c.106C>T SDHD:c.52+951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.305A>T SDHD:c.188A>T (p.His63Leu) SDHD:c.305A>T (p.His102Leu) SDHD:c.169+1029A>T SDHD:c.147dup SDHD:c.147dup (p.His50fs) SDHD:c.147dupA SDHD:c.53-916dup SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T | nonsense mutation | Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Human genetics:2003 | ||||
SDHD gene SDHC gene SDHB gene | head and neck hereditary paraganglioma | 14 | p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. Clinical genetics:2004 | |||||
SDHC gene SDHD gene SDHB gene RET gene VHL gene | Paraganglioma Pheochromocytoma head/neck | 45 | p.Ser68Ser p.Ala6Ala p.Gly12Ser p.His50Arg p.Ser163Pro p.Pro81Leu p.Arg90Gln p.Arg46Gln p.Ser8Phe p.Arg230Gly p.Arg167Trp p.Gly93Cys p.Pro86Ala | SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHB:c.136C>G (p.Arg46Gly) SDHB:c.487T>C (p.Ser163Pro) VHL:c.242C>T (p.Pro81Leu) VHL:c.256C>G VHL:c.256C>G (p.Pro86Ala) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.269G>A (p.Arg90Gln) SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) SDHB:c.634C>G (p.Arg212Gly) SDHB:c.688C>G (p.Arg230Gly) SDHB:c.23C>T (p.Ser8Phe) SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.149A>G SDHD:c.149A>G (p.His50Arg) SDHD:c.53-914A>G SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T VHL:c.376C>T VHL:c.499C>T (p.Arg167Trp) VHL:c.*53C>T VHL:c.376C>T (p.Arg126Trp) | nucleaotide-sequencing | Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. Annals of the New York Academy of Sciences:2006 | ||||
SDHB gene SDHD gene | Glomus Tumor Paraganglioma Pheochromocytoma tumor head and neck tumors neural crest-derived ( | 6 | heterozygous | c.IVS3+1G>A c.IVS2-1G>T p.Pro81Leu p.Gly106Asp p.Thr112Ile p.Gln109Ter | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.335C>T SDHD:c.190C>T (p.Leu64=) SDHD:c.218C>T (p.Thr73Ile) SDHD:c.*33C>T SDHD:c.335C>T (p.Thr112Ile) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHD:c.317G>A SDHD:c.172G>A (p.Ala58Thr) SDHD:c.200G>A (p.Gly67Asp) SDHD:c.*15G>A SDHD:c.317G>A (p.Gly106Asp) SDHD:c.325C>T SDHD:c.180C>T (p.Asp60=) SDHD:c.208C>T (p.Gln70Ter) SDHD:c.*23C>T SDHD:c.325C>T (p.Gln109Ter) | nonsense mutation | SDH mutations in patients affected by paraganglioma syndromes: a personal experience. Annals of the New York Academy of Sciences:2006 | |||
SDHD gene SDHC gene | Paraganglioma Malignant Paraganglionic Neoplasm pelvic paraganglioma thoracic-abdominal head and neck and head and neck paraganglioma pelvic paragangliomas abdominal head and neck hereditary paraganglioma | 445 | SDHC:c.238C>T (p.Arg80Ter) SDHC:c.517C>T (p.Arg173Ter) SDHC:c.340C>T (p.Arg114Ter) SDHC:c.334C>T (p.Arg112Ter) SDHC:c.289C>T (p.Arg97Ter) SDHC:c.286C>T (p.Arg96Ter) SDHC:c.397C>T (p.Arg133Ter) SDHC:c.242-5497C>T SDHC:c.140-5497C>T SDHB:c.758G>A (p.Cys253Tyr) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.688C>T (p.Arg230Cys) SDHB:c.649C>T (p.Arg217Cys) SDHB:c.574T>C (p.Cys192Arg) SDHB:c.541-2A>G SDHB:c.374C>A (p.Ser125Ter) SDHB:c.286+1G>A SDHB:c.166_170del (p.Pro56fs) SDHB:c.88del (p.Gln30fs) SDHD:c.304C>A SDHD:c.187C>A (p.His63Asn) SDHD:c.304C>A (p.His102Asn) SDHD:c.169+1028C>A SDHB:c.343C>T (p.Arg115Ter) SDHB:c.718_721del (p.Leu240fs) SDHB:c.19_41dup (p.Pro14_Ala15insSerProTer) SDHB:c.713del (p.Phe238fs) SDHB:c.642_642+6del SDHB:c.587G>A (p.Cys196Tyr) SDHD:c.147dup SDHD:c.147dup (p.His50fs) SDHD:c.147dupA SDHD:c.53-916dup SDHB:c.201-2A>C SDHD:c.10dupC SDHD:c.10dup (p.Leu4fs) SDHD:c.56del (p.Gly19fs) SDHD:c.173delG SDHD:c.173del (p.Gly58fs) SDHD:c.169+897del SDHC:c.1A>G (p.Met1Val) SDHC:c.-560A>G SDHC:c.-229A>G SDHC:c.113G>A (p.Arg38His) SDHC:c.335G>A (p.Arg112His) SDHC:c.158G>A (p.Arg53His) SDHC:c.104G>A (p.Arg35His) SDHC:c.215G>A (p.Arg72His) SDHB:c.591del (p.Ser198fs) SDHB:c.761C>T (p.Pro254Leu) SDHB:c.650G>A (p.Arg217His) SDHB:c.499A>T (p.Lys167Ter) SDHB:c.141G>A (p.Trp47Ter) SDHB:c.22_23del (p.Ser8fs) SDHD:c.281C>G SDHD:c.164C>G (p.Ser55Cys) SDHD:c.281C>G (p.Ser94Cys) SDHD:c.169+1005C>G SDHB:c.287-2A>G SDHC:c.21-2A>G SDHC:c.20+9187A>G SDHB:c.654G>A (p.Trp218Ter) SDHB:c.424-1G>A SDHB:c.72+1G>A SDHB:c.392del (p.Pro131fs) SDHB:c.183T>G (p.Tyr61Ter) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHB:c.642+2T>G SDHB:c.540+1G>A SDHB:c.502C>T (p.Gln168Ter) SDHC:c.113G>T (p.Arg38Leu) SDHC:c.335G>T (p.Arg112Leu) SDHC:c.158G>T (p.Arg53Leu) SDHC:c.104G>T (p.Arg35Leu) SDHC:c.215G>T (p.Arg72Leu) SDHB:c.73-1G>T SDHD:c.3G>A SDHD:c.3G>A (p.Met1Ile) SDHC:c.1A>T (p.Met1Leu) SDHC:c.-560A>T SDHC:c.-229A>T SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHB:c.63dup SDHB:c.63dup (p.Cys22fs) SDHD:c.52+2T>C SDHC:c.131dup (p.Leu44fs) SDHC:c.131dup (p.Leu44Phefs) SDHC:c.353dup (p.Leu118Phefs) SDHC:c.176dup (p.Leu59Phefs) SDHC:c.122dup (p.Leu41Phefs) SDHC:c.233dup (p.Leu78Phefs) SDHC:c.233dup (p.Leu78fs) SDHC:c.77+1G>A SDHC:c.20+9246G>A SDHC:c.86delC (p.Pro29Leufs) SDHC:c.29delC (p.Pro10Leufs) SDHC:c.-26delC SDHC:c.86del (p.Pro29fs) SDHC:c.77+4734del SDHC:c.21-12190del SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) SDHB:c.26T>A (p.Leu9Ter) SDHB:c.650G>T SDHB:c.650G>T (p.Arg217Leu) SDHB:c.135T>G SDHB:c.135T>G (p.Tyr45Ter) SDHD:c.113_116dup (p.Ile40fs) SDHD:c.52+954GACC[3] SDHB:c.424-2A>G SDHB:c.200+1G>C SDHD:c.52+897G>T SDHC:c.119dup (p.Gly41Trpfs) SDHC:c.398dup (p.Gly134Trpfs) SDHC:c.221dup (p.Gly75Trpfs) SDHC:c.215dup (p.Gly73Trpfs) SDHC:c.170dup (p.Gly58Trpfs) SDHC:c.167dup (p.Gly57Trpfs) SDHC:c.278dup (p.Gly94Trpfs) SDHC:c.278dup (p.Gly94fs) SDHC:c.242-5616dup SDHC:c.140-5616dup SDHB:c.412delG SDHB:c.412del (p.Asp138fs) SDHB:c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs) SDHB:c.243_246dup (p.Val83Ter) SDHC:c.179+1G>T SDHC:c.77+4828G>T SDHC:c.21-12096G>T SDHB:c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer) SDHB:c.484G>T (p.Glu162Ter) SDHB:c.136C>G (p.Arg46Gly) SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.95C>A SDHD:c.95C>A (p.Ser32Ter) SDHD:c.52+940C>A SDHD:c.191_192delTC SDHD:c.74_75del (p.Leu25fs) SDHD:c.191_192del (p.Leu64fs) SDHD:c.169+911TC[2] SDHD:c.3G>C SDHD:c.3G>C (p.Met1Ile) SDHD:c.129G>A SDHD:c.129G>A (p.Trp43Ter) SDHD:c.53-934G>A SDHD:c.14G>A (p.Trp5Ter) SDHB:c.268C>T (p.Arg90Ter) SDHB:c.725G>A (p.Arg242His) SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHB:c.287-1G>C SDHB:c.600G>A (p.Trp200Ter) MPZ;SDHC:c.-530_-529dup MPZ;SDHC:c.20+11_20+12dup SDHB:c.111_112dup (p.Arg38fs) SDHB:c.286+2T>A SDHB:c.689G>A (p.Arg230His) SDHB:c.136C>T (p.Arg46Ter) SDHB:c.72+1G>T SDHB:c.260T>C (p.Leu87Ser) *387_?)del SDHB:c.22dup (p.Ser8fs) SDHB:c.183T>A (p.Tyr61Ter) SDHD:c.*13-2A>G SDHD:c.315-2A>G SDHD:c.170-2A>G SDHD:c.198-2A>G SDHB:c.210dup (p.Met71fs) SDHC:c.112C>G (p.Arg38Gly) SDHC:c.334C>G (p.Arg112Gly) SDHC:c.157C>G (p.Arg53Gly) SDHC:c.103C>G (p.Arg35Gly) SDHC:c.214C>G (p.Arg72Gly) SDHB:c.640C>T (p.Gln214Ter) SDHD:c.242delC SDHD:c.125del (p.Pro42fs) SDHD:c.242del (p.Pro81fs) SDHD:c.169+966del SDHC:c.179+1G>C SDHC:c.77+4828G>C SDHC:c.21-12096G>C SDHB:c.331_332del (p.Leu111fs) SDHB:c.649C>G (p.Arg217Gly) SDHB:c.605dup (p.Asn202fs) SDHB:c.73-1G>A SDHB:c.697A>T (p.Lys233Ter) SDHB:c.540_540+13del SDHC:c.78-1G>T SDHC:c.77+4725G>T SDHC:c.21-12199G>T SDHD:c.18_21delGCTG SDHD:c.18_21del (p.Leu7fs) SDHD:c.53-1_53delGCinsTT SDHD:c.53-1_53delinsTT SDHD:c.52+897_52+898delinsTT SDHD:c.13_14del (p.Trp5fs) SDHD:c.13_14del SDHD:c.13_14delTG SDHC:c.88dup (p.Ser30Phefs) SDHC:c.367dup (p.Ser123Phefs) SDHC:c.190dup (p.Ser64Phefs) SDHC:c.184dup (p.Ser62Phefs) SDHC:c.139dup (p.Ser47Phefs) SDHC:c.136dup (p.Ser46Phefs) SDHC:c.247dup (p.Ser83Phefs) SDHC:c.247dup (p.Ser83fs) SDHC:c.242-5647dup SDHC:c.140-5647dup SDHB:c.763A>G (p.Lys255Glu) SDHD:c.44_52+24del SDHC:c.175delT (p.Tyr59Thrfs) SDHC:c.118delT (p.Tyr40Thrfs) SDHC:c.64delT (p.Tyr22Thrfs) SDHC:c.175del (p.Tyr59fs) SDHC:c.77+4823del SDHC:c.21-12101del SDHD:c.92G>C (p.Arg31Thr) SDHD:c.209G>C (p.Arg70Thr) SDHD:c.169+933G>C SDHD:c.209G>C SDHD:c.52+1G>A SDHC:c.24delG (p.Trp8Cysfs) SDHC:c.81del (p.Trp27fs) SDHC:c.81delG (p.Trp27Cysfs) SDHC:c.303delG (p.Trp101Cysfs) SDHC:c.126delG (p.Trp42Cysfs) SDHC:c.72delG (p.Trp24Cysfs) SDHC:c.183del (p.Trp61fs) SDHB:c.565T>C SDHB:c.565T>C (p.Cys189Arg) SDHB:c.523dup SDHB:c.523dup (p.Glu175fs) SDHC:c.-540G>T SDHC:c.20+1G>T SDHC:c.87_88CT[2] (p.Leu31Phefs) SDHC:c.366_367CT[2] (p.Leu124Phefs) SDHC:c.189_190CT[2] (p.Leu65Phefs) SDHC:c.183_184CT[2] (p.Leu63Phefs) SDHC:c.138_139CT[2] (p.Leu48Phefs) SDHC:c.135_136CT[2] (p.Leu47Phefs) SDHC:c.246_247CT[2] (p.Leu84Phefs) SDHC:c.250_251del (p.Leu84fs) SDHC:c.242-5649TC[2] SDHC:c.140-5649TC[2] SDHB:c.466del (p.Tyr156fs) SDHC:c.124delT (p.Trp42Glyfs) SDHC:c.67delT (p.Trp23Glyfs) SDHC:c.13delT (p.Trp5Glyfs) SDHC:c.124del (p.Trp42fs) SDHC:c.77+4772del SDHC:c.21-12152del SDHD:c.124_125del (p.Glu42fs) SDHD:c.53-939_53-938del SDHB:c.598dup (p.Trp200fs) SDHB:c.445_446dup (p.Gln149fs) SDHC:c.112del (p.Arg38fs) SDHC:c.112delC (p.Arg38Valfs) SDHC:c.334delC (p.Arg112Valfs) SDHC:c.157delC (p.Arg53Valfs) SDHC:c.103delC (p.Arg35Valfs) SDHC:c.214delC (p.Arg72Valfs) SDHC:c.214del (p.Arg72fs) SDHB:c.75del (p.Ser26fs) SDHB:c.450C>G (p.Tyr150Ter) SDHB:c.598del (p.Trp200fs) SDHC:c.125_126delAC (p.Asn42Ilefs) SDHC:c.404_405delAC (p.Asn135Ilefs) SDHC:c.227_228delAC (p.Asn76Ilefs) SDHC:c.221_222delAC (p.Asn74Ilefs) SDHC:c.176_177delAC (p.Asn59Ilefs) SDHC:c.173_174delAC (p.Asn58Ilefs) SDHC:c.284_285delAC (p.Asn95Ilefs) SDHC:c.284_285del (p.Asn95fs) SDHC:c.242-5610_242-5609del SDHC:c.140-5610_140-5609del SDHB:c.249del (p.Asp84fs) SDHB:c.206G>T SDHB:c.206G>T (p.Gly69Val) SDHB:c.563A>G (p.Tyr188Cys) SDHB:c.617A>G (p.Tyr206Cys) | nucleaotide-sequencing quantitative polymerase chain reaction multiplex ligation-dependent probe amplification | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. The Journal of clinical endocrinology and metabolism:2009 | |||||
SDHD gene SDHB gene NF1 gene VHL gene RET gene | Paraganglioma Pheochromocytoma Neurofibromatosis 1 Von Hippel-Lindau Syndrome Multiple Endocrine Neoplasia Type 2a leukocyte | 74 | SDHB:c.418G>T (p.Val140Phe) VHL:c.242C>T (p.Pro81Leu) VHL:c.150C>G VHL:c.150C>G (p.Ala50=) SDHB:c.689G>A (p.Arg230His) SDHB:c.380T>G (p.Ile127Ser) SDHB:c.311delinsGG (p.Asn104fs) VHL:c.470C>T VHL:c.470C>T (p.Thr157Ile) VHL:c.*24C>T VHL:c.347C>T (p.Thr116Ile) SDHB:c.296G>A (p.Gly99Asp) VHL:c.245G>T (p.Arg82Leu) VHL:c.492G>C (p.Gln164His) VHL:c.*46G>C VHL:c.369G>C (p.Gln123His) SDHB:c.300T>C (p.Ser100=) | liquid chromatography polymerase chain reaction nucleaotide-sequencing | Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. The Journal of surgical research:2009 | |||||
SDHD gene SDHB gene | Kidney Neoplasm Malignant pheochromocytoma Pheochromocytoma head and neck paragangliomas | 358 | p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | deletion | Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Human mutation:2010 | ||||
SDHAF2 gene SDHD gene | Glomus Jugulare Tumor Paraganglioma Pheochromocytoma | p.Pro81Leu c.242C>T | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. The Journal of clinical endocrinology and metabolism:2011 | ||||||
SDHB gene SDHAF2 gene SDHC gene SDHD gene | Paraganglioma Pheochromocytoma paragangliomas-pheochromocytomas hereditary paraganglioma | 1045 | p.Asp92Tyr c.274G>T | SDHAF2:c.232G>A SDHAF2:c.232G>A (p.Gly78Arg) SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.157G>T (p.Asp53Tyr) SDHD:c.274G>T SDHD:c.274G>T (p.Asp92Tyr) SDHD:c.169+998G>T SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHD:c.284T>C SDHD:c.167T>C (p.Leu56Pro) SDHD:c.284T>C (p.Leu95Pro) SDHD:c.169+1008T>C SDHB:c.423+1G>A SDHB:c.136C>T (p.Arg46Ter) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.141G>A (p.Trp47Ter) SDHD:c.315G>A SDHD:c.170G>A (p.Trp57Ter) SDHD:c.198G>A (p.Trp66Ter) SDHD:c.*13G>A SDHD:c.315G>A (p.Trp105Ter) SDHD:c.394delT SDHD:c.249del (p.Gln84fs) SDHD:c.277del (p.Ser93fs) SDHD:c.*92del SDHD:c.394del (p.Ser132fs) SDHD:c.342T>A SDHD:c.197T>A (p.Met66Lys) SDHD:c.225T>A (p.Tyr75Ter) SDHD:c.*40T>A SDHD:c.342T>A (p.Tyr114Ter) SDHD:c.416T>G SDHD:c.*13T>G SDHD:c.299T>G (p.Leu100Arg) SDHD:c.*114T>G SDHD:c.416T>G (p.Leu139Arg) SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHD:c.171del (p.Ala58fs) SDHD:c.288del (p.Ala97fs) SDHD:c.169+1012del SDHAF2:c.233G>A (p.Gly78Glu) SDHAF2:c.233G>A | High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. Clinical genetics:2012 | |||||
TMEM127 gene MAX gene VHL gene SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene | Paraganglioma head and neck paragangliomas | 79 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.305A>T SDHD:c.188A>T (p.His63Leu) SDHD:c.305A>T (p.His102Leu) SDHD:c.169+1029A>T SDHD:c.341A>G SDHD:c.196A>G (p.Met66Val) SDHD:c.224A>G (p.Tyr75Cys) SDHD:c.*39A>G SDHD:c.341A>G (p.Tyr114Cys) SDHD:c.3G>C SDHD:c.3G>C (p.Met1Ile) SDHD:c.64C>T SDHD:c.64C>T (p.Arg22Ter) SDHD:c.52+909C>T VHL:c.242C>T (p.Pro81Leu) SDHD:c.304C>A SDHD:c.187C>A (p.His63Asn) SDHD:c.304C>A (p.His102Asn) SDHD:c.169+1028C>A SDHAF2:c.355dup (p.Tyr119fs) SDHB:c.3G>A (p.Met1Ile) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHAF2:c.305_306insA (p.Asn103fs) SDHD:c.3G>A SDHD:c.3G>A (p.Met1Ile) SDHAF2:c.261-2A>T SDHAF2:c.37-1G>C SDHAF2:c.315T>A SDHAF2:c.315T>A (p.Tyr105Ter) SDHD:c.304C>T SDHD:c.187C>T (p.His63Tyr) SDHD:c.304C>T (p.His102Tyr) SDHD:c.169+1028C>T SDHAF2:c.199del SDHAF2:c.199del (p.Arg67fs) SDHD:c.317G>A SDHD:c.172G>A (p.Ala58Thr) SDHD:c.200G>A (p.Gly67Asp) SDHD:c.*15G>A SDHD:c.317G>A (p.Gly106Asp) SDHAF2:c.165G>A (p.Trp55Ter) SDHAF2:c.260+1G>A SDHAF2:c.177dup (p.Asp60Ter) SDHB:c.572G>A SDHB:c.572G>A (p.Cys191Tyr) SDHAF2:c.260+2T>C SDHAF2:c.124del (p.Asp42fs) SDHAF2:c.216T>A (p.Tyr72Ter) SDHAF2:c.130C>T SDHAF2:c.130C>T (p.Gln44Ter) SDHAF2:c.229_230del (p.Arg77fs) SDHAF2:c.28del (p.Ser10fs) SDHAF2:c.267delT SDHAF2:c.267del (p.Phe89fs) | polymerase chain reaction nucleaotide-sequencing | Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. Endocrine-related cancer:2012 | |||||
VHL gene TMEM127 gene SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene RET gene MAX gene | Paraganglioma Pheochromocytoma head and neck paraganglioma | 205 | SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHB:c.725G>A (p.Arg242His) SDHB:c.487T>C (p.Ser163Pro) SDHC:c.148C>T (p.Arg50Cys) SDHC:c.91C>T (p.Arg31Cys) SDHC:c.37C>T (p.Arg13Cys) SDHC:c.77+4796C>T SDHC:c.21-12128C>T SDHA:c.91C>T SDHA:c.91C>T (p.Arg31Ter) SDHB:c.72+1G>T SDHA:c.1753C>T SDHA:c.1609C>T (p.Arg537Trp) SDHA:c.1753C>T (p.Arg585Trp) SDHA:c.1552-2966C>T SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHA:c.136A>G SDHA:c.136A>G (p.Lys46Glu) SDHB:c.587G>A (p.Cys196Tyr) MAX:c.*198C>T MAX:c.*214C>T MAX:c.224C>T (p.Ser75Leu) MAX:c.425C>T (p.Ser142Leu) MAX:c.398C>T (p.Ser133Leu) MAX:c.144+17174C>T MAX:c.171+17174C>T TMEM127:c.268G>A TMEM127:c.268G>A (p.Val90Met) SDHA:c.1752_1753delinsGT SDHA:c.1608_1609inv (p.Arg537Trp) SDHA:c.1752_1753inv (p.Arg585Trp) SDHA:c.1552-2967_1552-2966inv SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.77+2dup SDHC:c.20+9247dup SDHA:c.1338del SDHA:c.1194del (p.His399fs) SDHA:c.1338del (p.His447fs) SDHB:c.789del SDHB:c.789del (p.Ile263fs) TMEM127:c.512delinsGCC TMEM127:c.512delinsGCC (p.Val171fs) SDHD:c.312C>T SDHD:c.195C>T (p.His65=) SDHD:c.312C>T (p.His104=) SDHD:c.169+1036C>T SDHA:c.1273G>A SDHA:c.1129G>A (p.Val377Met) SDHA:c.1273G>A (p.Val425Met) SDHA:c.1002G>A SDHA:c.858G>A (p.Ala286=) SDHA:c.1002G>A (p.Ala334=) SDHA:c.1623G>A SDHA:c.1479G>A (p.Lys493=) SDHA:c.1623G>A (p.Lys541=) SDHA:c.1552-3330G>A SDHA:c.549C>T SDHA:c.405C>T (p.Gly135=) SDHA:c.549C>T (p.Gly183=) SDHA:c.923C>T SDHA:c.779C>T (p.Thr260Met) SDHA:c.923C>T (p.Thr308Met) SDHAF2:c.319C>T (p.Arg107Cys) SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHB:c.747delG (p.Met251Terfs) SDHB:c.801delG (p.Met269Terfs) SDHB:c.801del (p.Lys268_Met269insTer) | sanger sequencing | A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism:2013 | |||||
SDHB gene SDHD gene | Carotid Body Paraganglioma head and neck paragangliomas | 26 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHB:c.286G>A (p.Gly96Ser) | Genetic testing in head and neck paraganglioma: who, what, and why? Journal of neurological surgery. Part B, Skull base:2013 | ||||||
SDHAF2 gene SDHD gene SDHC gene SDHB gene RET gene VHL gene | Paraganglioma head/neck paraganglioma head/neck paragangliomas | 17 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.304C>T SDHD:c.187C>T (p.His63Tyr) SDHD:c.304C>T (p.His102Tyr) SDHD:c.169+1028C>T SDHD:c.445_448dupATCT SDHD:c.*42_*45dup SDHD:c.328_331dup (p.Cys111fs) SDHD:c.*143_*146dup SDHD:c.445_448dup (p.Cys150fs) | Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations. Head & neck:2013 | ||||||
SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene | Paraganglioma Pheochromocytoma pheo-pgl syndrome | heterozygous | SDHB:c.587G>A (p.Cys196Tyr) SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.341A>G SDHD:c.196A>G (p.Met66Val) SDHD:c.224A>G (p.Tyr75Cys) SDHD:c.*39A>G SDHD:c.341A>G (p.Tyr114Cys) SDHD:c.149A>G SDHD:c.149A>G (p.His50Arg) SDHD:c.53-914A>G SDHB:c.725G>A (p.Arg242His) SDHB:c.716_719del SDHB:c.716_719del (p.Ser239fs) SDHB:c.136C>G (p.Arg46Gly) SDHC:c.148C>T (p.Arg50Cys) SDHC:c.91C>T (p.Arg31Cys) SDHC:c.37C>T (p.Arg13Cys) SDHC:c.77+4796C>T SDHC:c.21-12128C>T SDHD:c.158C>T SDHD:c.158C>T (p.Pro53Leu) SDHD:c.53-905C>T SDHC:c.194del (p.Gly65fs) SDHC:c.194delG (p.Gly65Valfs) SDHC:c.580delG (p.Val194Leufs) SDHC:c.403delG (p.Val135Leufs) SDHC:c.397delG (p.Val133Leufs) SDHC:c.352delG (p.Val118Leufs) SDHC:c.349delG (p.Val117Leufs) SDHC:c.239delG (p.Gly80Valfs) SDHC:c.460delG (p.Val154Leufs) SDHC:c.460del (p.Val154fs) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.269G>A (p.Arg90Gln) SDHB:c.724C>A (p.Arg242Ser) SDHD:c.335C>T SDHD:c.190C>T (p.Leu64=) SDHD:c.218C>T (p.Thr73Ile) SDHD:c.*33C>T SDHD:c.335C>T (p.Thr112Ile) SDHB:c.650G>A (p.Arg217His) SDHB:c.238A>G (p.Lys80Glu) SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHB:c.778G>C SDHB:c.778G>C (p.Gly260Arg) SDHC:c.224A>T (p.Tyr75Phe) SDHC:c.610A>T (p.Met204Leu) SDHC:c.433A>T (p.Met145Leu) SDHC:c.427A>T (p.Met143Leu) SDHC:c.382A>T (p.Met128Leu) SDHC:c.379A>T (p.Met127Leu) SDHC:c.269A>T (p.Tyr90Phe) SDHC:c.490A>T (p.Met164Leu) SDHB:c.650G>T SDHB:c.650G>T (p.Arg217Leu) SDHD:c.317G>A SDHD:c.172G>A (p.Ala58Thr) SDHD:c.200G>A (p.Gly67Asp) SDHD:c.*15G>A SDHD:c.317G>A (p.Gly106Asp) SDHC:c.119G>A (p.Arg40Gln) SDHC:c.62G>A (p.Arg21Gln) SDHC:c.8G>A (p.Arg3Gln) SDHC:c.77+4767G>A SDHC:c.21-12157G>A SDHB:c.530G>A (p.Arg177His) SDHB:c.137G>T (p.Arg46Leu) SDHC:c.173T>C (p.Ile58Thr) SDHC:c.116T>C (p.Ile39Thr) SDHC:c.62T>C (p.Ile21Thr) SDHC:c.77+4821T>C SDHC:c.21-12103T>C | Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Human molecular genetics:2013 | ||||||
SDHB gene SDHD gene SDHC gene | Carotid Body Paraganglioma Paraganglioma nerve lesions | 50 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.341A>G SDHD:c.196A>G (p.Met66Val) SDHD:c.224A>G (p.Tyr75Cys) SDHD:c.*39A>G SDHD:c.341A>G (p.Tyr114Cys) SDHD:c.95C>A SDHD:c.95C>A (p.Ser32Ter) SDHD:c.52+940C>A | sanger sequencing | Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery:2013 | |||||
RET gene VHL gene SDHD gene SDHB gene | Paraganglioma Pheochromocytoma head and neck paraganglioma | 53 | RET:c.1337C>T (p.Pro446Leu) RET:c.1217C>T (p.Pro406Leu) RET:c.1073C>T (p.Pro358Leu) RET:c.2522C>T (p.Pro841Leu) VHL:c.242C>T (p.Pro81Leu) SDHD:c.331G>A SDHD:c.186G>A (p.Leu62=) SDHD:c.214G>A (p.Val72Ile) SDHD:c.*29G>A SDHD:c.331G>A (p.Val111Ile) SDHB:c.392del (p.Pro131fs) RET:c.1891G>T (p.Asp631Tyr) RET:c.1129G>T (p.Asp377Tyr) RET:c.1760C>T (p.Pro587Leu) | nucleaotide-sequencing multiplex ligation-dependent probe amplification | Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea. Clinical genetics:2014 | |||||
SDHD gene | Paraganglioma Pheochromocytoma | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.290C>T SDHD:c.173C>T (p.Ala58Val) SDHD:c.290C>T (p.Ala97Val) SDHD:c.169+1014C>T | Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report. The Journal of clinical endocrinology and metabolism:2014 | |||||||
SDHB gene SDHD gene SDHC gene AIP gene MEN1 gene MAX gene VHL gene RET gene SDHAF2 gene SDHA gene | Pituitary Adenoma Paraganglioma pituitary | 39 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHA:c.91C>T SDHA:c.91C>T (p.Arg31Ter) SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHB:c.80G>A (p.Arg27Gln) SDHA:c.969C>A SDHA:c.825C>A (p.Gly275=) SDHA:c.969C>A (p.Gly323=) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A | sanger sequencing | Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. The Journal of clinical endocrinology and metabolism:2015 | |||||
SDHD gene SDHA gene SDHB gene | Paraganglioma phaeochromocytomas | p.Pro81Leu | SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation. Anticancer research:2017 | ||||||
SDHD gene | head and neck paraganglioma | 91 | p.Trp105Ter p.Tyr114Cys p.His102Arg p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.315G>A SDHD:c.170G>A (p.Trp57Ter) SDHD:c.198G>A (p.Trp66Ter) SDHD:c.*13G>A SDHD:c.315G>A (p.Trp105Ter) SDHD:c.197G>A (p.Trp66Ter) SDHD:c.314G>A (p.Trp105Ter) SDHD:c.169+1038G>A SDHD:c.314G>A SDHD:c.341A>G SDHD:c.196A>G (p.Met66Val) SDHD:c.224A>G (p.Tyr75Cys) SDHD:c.*39A>G SDHD:c.341A>G (p.Tyr114Cys) SDHD:c.305A>G SDHD:c.188A>G (p.His63Arg) SDHD:c.305A>G (p.His102Arg) SDHD:c.169+1029A>G | sanger sequencing | The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma. The International journal of neuroscience:2018 | ||||
SDHD gene SDHC gene SDHB gene | Paraganglioma Pheochromocytoma malignant disease | 876 | p.Pro81Leu | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. Journal of medical genetics:2018 | |||||
RET gene VHL gene SDHAF2 gene SDHC gene SDHB gene SDHD gene | Pheochromocytoma Carotid Body Paraganglioma Paraganglioma | 23 | c.3247A>G c.387_393_387400del | SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | nucleaotide-sequencing | SDHx gene detection and clinical Phenotypic analysis of multiple paraganglioma in the head and neck. The Laryngoscope:2019 | ||||
RET gene MEN1 gene SDHD gene SDHB gene | Prolactinoma Paraganglioma Pheochromocytoma Pituitary Adenoma tumour | 10 | p.Ile852Met p.Pro540Ser p.Pro81Leu | RET:c.1371C>G (p.Ile457Met) RET:c.1251C>G (p.Ile417Met) RET:c.1107C>G (p.Ile369Met) RET:c.2556C>G (p.Ile852Met) MEN1:c.1513C>T (p.Pro505Ser) MEN1:c.1633C>T (p.Pro545Ser) MEN1:c.1618C>T (p.Pro540Ser) RET:c.1794C>G (p.Ile598Met) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T | 3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations. European journal of internal medicine:2019 | |||||
IDH2 gene FH gene | Paraganglioma Pheochromocytoma metabolic | 391 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.14G>A (p.Trp5Ter) SDHD:c.284T>C SDHD:c.167T>C (p.Leu56Pro) SDHD:c.284T>C (p.Leu95Pro) SDHD:c.169+1008T>C SDHB:c.32G>A (p.Arg11His) FH:c.908T>C (p.Leu303Ser) FH:c.908T>C SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHB:c.72+1G>T SDHA:c.1753C>T SDHA:c.1609C>T (p.Arg537Trp) SDHA:c.1753C>T (p.Arg585Trp) SDHA:c.1552-2966C>T SDHB:c.649C>T (p.Arg217Cys) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.49A>G (p.Thr17Ala) SDHA:c.1752_1753delinsGT SDHA:c.1608_1609inv (p.Arg537Trp) SDHA:c.1752_1753inv (p.Arg585Trp) SDHA:c.1552-2967_1552-2966inv SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T FH:c.700A>G (p.Thr234Ala) SDHD:c.49C>T SDHD:c.49C>T (p.Arg17Ter) SDHB:c.287-3C>G SDHAF2:c.320G>A (p.Arg107His) SDHA:c.1772C>T SDHA:c.1628C>T (p.Ala543Val) SDHA:c.1772C>T (p.Ala591Val) SDHA:c.1552-2947C>T SDHC:c.98T>C (p.Met33Thr) SDHC:c.320T>C (p.Met107Thr) SDHC:c.143T>C (p.Met48Thr) SDHC:c.89T>C (p.Met30Thr) SDHC:c.200T>C (p.Met67Thr) SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHB:c.572G>A SDHB:c.572G>A (p.Cys191Tyr) | nucleaotide-sequencing | Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genetics in medicine : official journal of the American College of Medical Genetics:2019 | |||||
SDHC gene SDHD gene | Pheochromocytoma Paraganglioma hereditary paraganglioma-pheochromocytoma syndrome | 263 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHB:c.600G>A (p.Trp200Ter) SDHB:c.286+2T>A SDHB:c.600G>T (p.Trp200Cys) SDHB:c.137G>A (p.Arg46Gln) SDHD:c.342T>A SDHD:c.197T>A (p.Met66Lys) SDHD:c.225T>A (p.Tyr75Ter) SDHD:c.*40T>A SDHD:c.342T>A (p.Tyr114Ter) SDHA:c.562C>T SDHA:c.418C>T (p.Arg140Trp) SDHA:c.562C>T (p.Arg188Trp) SDHA:c.419G>A (p.Arg140Gln) SDHA:c.563G>A SDHA:c.563G>A (p.Arg188Gln) | Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome. Genetics in medicine : official journal of the American College of Medical Genetics:2020 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | History | Variations from text | Variations from curated data | Tech | Molecular Consequences | Interventions | Citation |
---|---|---|---|---|---|---|---|---|---|---|
ANO1 gene SDHB gene PDGFRA gene KIT gene | Gastrointestinal Stromal Tumors | 29(year) | male | p.Arg90Ter | SDHB:c.268C>T (p.Arg90Ter) | open transduodenal excision | A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation. The Journal of clinical endocrinology and metabolism:2017 | |||
VHL gene RET gene | Paraganglioma Von Hippel-Lindau Syndrome neuroendocrine tumour syndrome hereditary paraganglioma | SDHB:c.268C>T (p.Arg90Ter) | polymerase chain reaction single-strand conformation polymorphism nucleaotide-sequencing | A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes. Clinical endocrinology:1998 | ||||||
SDHB gene SDHD gene RET gene | Pheochromocytoma head and neck paraganglioma | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.136C>G (p.Arg46Gly) SDHB:c.136C>T (p.Arg46Ter) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.88del (p.Gln30fs) SDHB:c.424-1G>A SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) SDHB:c.424-2A>G SDHB:c.200+3G>C SDHB:c.194T>A (p.Leu65His) | missense mutation frameshift | Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene:2003 | ||||||
SDHD gene SDHC gene SDHB gene | Renal Cell Carcinoma Stage IV Renal Cell Cancer Malignant neoplasm of kidney hereditary leiomyomatosis hereditary kidney cancer | Carotid Body Paraganglioma | p.Arg133Ter | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.286+2T>A SDHB:c.689G>A (p.Arg230His) SDHC:c.238C>T (p.Arg80Ter) SDHC:c.517C>T (p.Arg173Ter) SDHC:c.340C>T (p.Arg114Ter) SDHC:c.334C>T (p.Arg112Ter) SDHC:c.289C>T (p.Arg97Ter) SDHC:c.286C>T (p.Arg96Ter) SDHC:c.397C>T (p.Arg133Ter) SDHC:c.242-5497C>T SDHC:c.140-5497C>T SDHB:c.541-2A>G SDHB:c.137G>A (p.Arg46Gln) SDHB:c.379A>C (p.Ile127Leu) SDHC:c.228G>A (p.Trp76Ter) SDHC:c.507G>A (p.Trp169Ter) SDHC:c.330G>A (p.Trp110Ter) SDHC:c.324G>A (p.Trp108Ter) SDHC:c.279G>A (p.Trp93Ter) SDHC:c.276G>A (p.Trp92Ter) SDHC:c.387G>A (p.Trp129Ter) SDHC:c.242-5507G>A SDHC:c.140-5507G>A SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) SDHC:c.217_232del16 (p.Tyr73Glyfs) SDHC:c.496_511del16 (p.Tyr166Glyfs) SDHC:c.319_334del16 (p.Tyr107Glyfs) SDHC:c.313_328del16 (p.Tyr105Glyfs) SDHC:c.268_283del16 (p.Tyr90Glyfs) SDHC:c.265_280del16 (p.Tyr89Glyfs) SDHC:c.376_391del16 (p.Tyr126Glyfs) SDHC:c.376_391del (p.Tyr126fs) SDHC:c.242-5518_242-5503del SDHC:c.140-5518_140-5503del SDHC:c.247_248delAA (p.Lys83Valfs) SDHC:c.238_239delAA (p.Lys80Valfs) SDHC:c.190_191del (p.Lys64fs) SDHC:c.190_191delAA (p.Lys64Valfs) SDHC:c.349_350del (p.Lys117fs) SDHC:c.469_470delAA (p.Lys157Valfs) SDHC:c.292_293delAA (p.Lys98Valfs) SDHC:c.286_287delAA (p.Lys96Valfs) SDHC:c.242-5545_242-5544del SDHC:c.241_242delAA (p.Lys81Valfs) SDHC:c.140-5545_140-5544del SDHC:c.227G>A (p.Trp76Ter) SDHC:c.506G>A (p.Trp169Ter) SDHC:c.329G>A (p.Trp110Ter) SDHC:c.323G>A (p.Trp108Ter) SDHC:c.278G>A (p.Trp93Ter) SDHC:c.275G>A (p.Trp92Ter) SDHC:c.386G>A (p.Trp129Ter) SDHC:c.242-5508G>A SDHC:c.140-5508G>A | surgical excision | Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. The Journal of urology:2012 |
Gene | Symptoms or Disease | Total Cases | Number of families | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|
RET gene VHL gene | Neuroendocrine Tumors Paraganglioma Von Hippel-Lindau Syndrome retroperitoneal tumours extra hereditary paraganglioma | SDHB:c.268C>T (p.Arg90Ter) | polymerase chain reaction single-strand conformation polymorphism polymerase chain reaction nucleaotide-sequencing | A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes. Clinical endocrinology:1998 | ||||
SDHB gene SDHA gene SDHC gene SDHD gene RET gene NF1 gene VHL gene | Paraganglioma Pheochromocytoma hereditary paraganglioma | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHB:c.260T>C (p.Leu87Ser) SDHB:c.591del (p.Ser198fs) SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) | Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. American journal of human genetics:2001 | |||||
SDHB gene SDHD gene VHL gene RET gene | Pheochromocytoma head and neck paraganglioma | 4 | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.136C>G (p.Arg46Gly) SDHB:c.136C>T (p.Arg46Ter) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.88del (p.Gln30fs) SDHB:c.424-1G>A SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) SDHB:c.424-2A>G SDHB:c.200+3G>C SDHB:c.194T>A (p.Leu65His) | missense mutation nonsense mutation frameshift splice site mutation | Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene:2003 | |||
SDHC gene SDHD gene SDHB gene VHL gene RET gene | Neurofibromatosis 1 Paraganglioma Pheochromocytoma | 314 | VHL:c.292T>C VHL:c.292T>C (p.Tyr98His) SDHD:c.191_192delTC SDHD:c.74_75del (p.Leu25fs) SDHD:c.191_192del (p.Leu64fs) SDHD:c.169+911TC[2] SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHD:c.64C>T SDHD:c.64C>T (p.Arg22Ter) SDHD:c.52+909C>T SDHB:c.268C>T (p.Arg90Ter) SDHB:c.136C>G (p.Arg46Gly) RET:c.715T>G (p.Cys239Gly) RET:c.595T>G (p.Cys199Gly) RET:c.451T>G (p.Cys151Gly) RET:c.1900T>G (p.Cys634Gly) RET:c.715T>C (p.Cys239Arg) RET:c.595T>C (p.Cys199Arg) RET:c.451T>C (p.Cys151Arg) RET:c.1900T>C (p.Cys634Arg) RET:c.1185G>C (p.Leu395Phe) RET:c.1065G>C (p.Leu355Phe) RET:c.921G>C (p.Leu307Phe) RET:c.2370G>C (p.Leu790Phe) VHL:c.467A>G VHL:c.467A>G (p.Tyr156Cys) VHL:c.*21A>G VHL:c.344A>G (p.Tyr115Cys) SDHB:c.689G>A (p.Arg230His) SDHB:c.758G>A (p.Cys253Tyr) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.718_721del (p.Leu240fs) SDHB:c.713del (p.Phe238fs) SDHB:c.587G>A (p.Cys196Tyr) SDHD:c.147dup SDHD:c.147dup (p.His50fs) SDHD:c.147dupA SDHD:c.53-916dup SDHB:c.717dup (p.Leu240fs) SDHB:c.591del (p.Ser198fs) VHL:c.533T>C (p.Leu178Pro) VHL:c.*87T>C VHL:c.410T>C (p.Leu137Pro) SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) VHL:c.278G>A (p.Gly93Asp) RET:c.715_716delTGinsCT (p.Cys239Leu) RET:c.595_596delTGinsCT (p.Cys199Leu) RET:c.451_452delTGinsCT (p.Cys151Leu) RET:c.1900_1901delTGinsCT (p.Cys634Leu) RET:c.1900_1901delinsCT (p.Cys634Leu) VHL:c.290C>T VHL:c.290C>T (p.Pro97Leu) SDHB:c.713T>C (p.Phe238Ser) RET:c.1901_1902delinsTG (p.Cys634Leu) RET:c.1139_1140delinsTG (p.Cys380Leu) RET:c.1608G>C (p.Leu536Phe) | Genetic testing in pheochromocytoma or functional paraganglioma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2005 | ||||
Papillary Renal Cell Carcinoma Paraganglioma macrovascular disease | 32 | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHB:c.423+20T>A SDHB:c.136C>T (p.Arg46Ter) SDHB:c.72+1G>T SDHB:c.141G>A (p.Trp47Ter) SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) | Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clinical endocrinology:2008 | |||||
SDHD gene SDHC gene | Paraganglioma Malignant Paraganglionic Neoplasm pelvic paraganglioma thoracic-abdominal head and neck and head and neck paraganglioma pelvic paragangliomas abdominal head and neck hereditary paraganglioma | 445 | SDHC:c.238C>T (p.Arg80Ter) SDHC:c.517C>T (p.Arg173Ter) SDHC:c.340C>T (p.Arg114Ter) SDHC:c.334C>T (p.Arg112Ter) SDHC:c.289C>T (p.Arg97Ter) SDHC:c.286C>T (p.Arg96Ter) SDHC:c.397C>T (p.Arg133Ter) SDHC:c.242-5497C>T SDHC:c.140-5497C>T SDHB:c.758G>A (p.Cys253Tyr) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.688C>T (p.Arg230Cys) SDHB:c.649C>T (p.Arg217Cys) SDHB:c.574T>C (p.Cys192Arg) SDHB:c.541-2A>G SDHB:c.374C>A (p.Ser125Ter) SDHB:c.286+1G>A SDHB:c.166_170del (p.Pro56fs) SDHB:c.88del (p.Gln30fs) SDHD:c.304C>A SDHD:c.187C>A (p.His63Asn) SDHD:c.304C>A (p.His102Asn) SDHD:c.169+1028C>A SDHB:c.343C>T (p.Arg115Ter) SDHB:c.718_721del (p.Leu240fs) SDHB:c.19_41dup (p.Pro14_Ala15insSerProTer) SDHB:c.713del (p.Phe238fs) SDHB:c.642_642+6del SDHB:c.587G>A (p.Cys196Tyr) SDHD:c.147dup SDHD:c.147dup (p.His50fs) SDHD:c.147dupA SDHD:c.53-916dup SDHB:c.201-2A>C SDHD:c.10dupC SDHD:c.10dup (p.Leu4fs) SDHD:c.56del (p.Gly19fs) SDHD:c.173delG SDHD:c.173del (p.Gly58fs) SDHD:c.169+897del SDHC:c.1A>G (p.Met1Val) SDHC:c.-560A>G SDHC:c.-229A>G SDHC:c.113G>A (p.Arg38His) SDHC:c.335G>A (p.Arg112His) SDHC:c.158G>A (p.Arg53His) SDHC:c.104G>A (p.Arg35His) SDHC:c.215G>A (p.Arg72His) SDHB:c.591del (p.Ser198fs) SDHB:c.761C>T (p.Pro254Leu) SDHB:c.650G>A (p.Arg217His) SDHB:c.499A>T (p.Lys167Ter) SDHB:c.141G>A (p.Trp47Ter) SDHB:c.22_23del (p.Ser8fs) SDHD:c.281C>G SDHD:c.164C>G (p.Ser55Cys) SDHD:c.281C>G (p.Ser94Cys) SDHD:c.169+1005C>G SDHB:c.287-2A>G SDHC:c.21-2A>G SDHC:c.20+9187A>G SDHB:c.654G>A (p.Trp218Ter) SDHB:c.424-1G>A SDHB:c.72+1G>A SDHB:c.392del (p.Pro131fs) SDHB:c.183T>G (p.Tyr61Ter) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHB:c.642+2T>G SDHB:c.540+1G>A SDHB:c.502C>T (p.Gln168Ter) SDHC:c.113G>T (p.Arg38Leu) SDHC:c.335G>T (p.Arg112Leu) SDHC:c.158G>T (p.Arg53Leu) SDHC:c.104G>T (p.Arg35Leu) SDHC:c.215G>T (p.Arg72Leu) SDHB:c.73-1G>T SDHD:c.3G>A SDHD:c.3G>A (p.Met1Ile) SDHC:c.1A>T (p.Met1Leu) SDHC:c.-560A>T SDHC:c.-229A>T SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHB:c.63dup SDHB:c.63dup (p.Cys22fs) SDHD:c.52+2T>C SDHC:c.131dup (p.Leu44fs) SDHC:c.131dup (p.Leu44Phefs) SDHC:c.353dup (p.Leu118Phefs) SDHC:c.176dup (p.Leu59Phefs) SDHC:c.122dup (p.Leu41Phefs) SDHC:c.233dup (p.Leu78Phefs) SDHC:c.233dup (p.Leu78fs) SDHC:c.77+1G>A SDHC:c.20+9246G>A SDHC:c.86delC (p.Pro29Leufs) SDHC:c.29delC (p.Pro10Leufs) SDHC:c.-26delC SDHC:c.86del (p.Pro29fs) SDHC:c.77+4734del SDHC:c.21-12190del SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) SDHB:c.26T>A (p.Leu9Ter) SDHB:c.650G>T SDHB:c.650G>T (p.Arg217Leu) SDHB:c.135T>G SDHB:c.135T>G (p.Tyr45Ter) SDHD:c.113_116dup (p.Ile40fs) SDHD:c.52+954GACC[3] SDHB:c.424-2A>G SDHB:c.200+1G>C SDHD:c.52+897G>T SDHC:c.119dup (p.Gly41Trpfs) SDHC:c.398dup (p.Gly134Trpfs) SDHC:c.221dup (p.Gly75Trpfs) SDHC:c.215dup (p.Gly73Trpfs) SDHC:c.170dup (p.Gly58Trpfs) SDHC:c.167dup (p.Gly57Trpfs) SDHC:c.278dup (p.Gly94Trpfs) SDHC:c.278dup (p.Gly94fs) SDHC:c.242-5616dup SDHC:c.140-5616dup SDHB:c.412delG SDHB:c.412del (p.Asp138fs) SDHB:c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs) SDHB:c.243_246dup (p.Val83Ter) SDHC:c.179+1G>T SDHC:c.77+4828G>T SDHC:c.21-12096G>T SDHB:c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer) SDHB:c.484G>T (p.Glu162Ter) SDHB:c.136C>G (p.Arg46Gly) SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.95C>A SDHD:c.95C>A (p.Ser32Ter) SDHD:c.52+940C>A SDHD:c.191_192delTC SDHD:c.74_75del (p.Leu25fs) SDHD:c.191_192del (p.Leu64fs) SDHD:c.169+911TC[2] SDHD:c.3G>C SDHD:c.3G>C (p.Met1Ile) SDHD:c.129G>A SDHD:c.129G>A (p.Trp43Ter) SDHD:c.53-934G>A SDHD:c.14G>A (p.Trp5Ter) SDHB:c.268C>T (p.Arg90Ter) SDHB:c.725G>A (p.Arg242His) SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHB:c.287-1G>C SDHB:c.600G>A (p.Trp200Ter) MPZ;SDHC:c.-530_-529dup MPZ;SDHC:c.20+11_20+12dup SDHB:c.111_112dup (p.Arg38fs) SDHB:c.286+2T>A SDHB:c.689G>A (p.Arg230His) SDHB:c.136C>T (p.Arg46Ter) SDHB:c.72+1G>T SDHB:c.260T>C (p.Leu87Ser) *387_?)del SDHB:c.22dup (p.Ser8fs) SDHB:c.183T>A (p.Tyr61Ter) SDHD:c.*13-2A>G SDHD:c.315-2A>G SDHD:c.170-2A>G SDHD:c.198-2A>G SDHB:c.210dup (p.Met71fs) SDHC:c.112C>G (p.Arg38Gly) SDHC:c.334C>G (p.Arg112Gly) SDHC:c.157C>G (p.Arg53Gly) SDHC:c.103C>G (p.Arg35Gly) SDHC:c.214C>G (p.Arg72Gly) SDHB:c.640C>T (p.Gln214Ter) SDHD:c.242delC SDHD:c.125del (p.Pro42fs) SDHD:c.242del (p.Pro81fs) SDHD:c.169+966del SDHC:c.179+1G>C SDHC:c.77+4828G>C SDHC:c.21-12096G>C SDHB:c.331_332del (p.Leu111fs) SDHB:c.649C>G (p.Arg217Gly) SDHB:c.605dup (p.Asn202fs) SDHB:c.73-1G>A SDHB:c.697A>T (p.Lys233Ter) SDHB:c.540_540+13del SDHC:c.78-1G>T SDHC:c.77+4725G>T SDHC:c.21-12199G>T SDHD:c.18_21delGCTG SDHD:c.18_21del (p.Leu7fs) SDHD:c.53-1_53delGCinsTT SDHD:c.53-1_53delinsTT SDHD:c.52+897_52+898delinsTT SDHD:c.13_14del (p.Trp5fs) SDHD:c.13_14del SDHD:c.13_14delTG SDHC:c.88dup (p.Ser30Phefs) SDHC:c.367dup (p.Ser123Phefs) SDHC:c.190dup (p.Ser64Phefs) SDHC:c.184dup (p.Ser62Phefs) SDHC:c.139dup (p.Ser47Phefs) SDHC:c.136dup (p.Ser46Phefs) SDHC:c.247dup (p.Ser83Phefs) SDHC:c.247dup (p.Ser83fs) SDHC:c.242-5647dup SDHC:c.140-5647dup SDHB:c.763A>G (p.Lys255Glu) SDHD:c.44_52+24del SDHC:c.175delT (p.Tyr59Thrfs) SDHC:c.118delT (p.Tyr40Thrfs) SDHC:c.64delT (p.Tyr22Thrfs) SDHC:c.175del (p.Tyr59fs) SDHC:c.77+4823del SDHC:c.21-12101del SDHD:c.92G>C (p.Arg31Thr) SDHD:c.209G>C (p.Arg70Thr) SDHD:c.169+933G>C SDHD:c.209G>C SDHD:c.52+1G>A SDHC:c.24delG (p.Trp8Cysfs) SDHC:c.81del (p.Trp27fs) SDHC:c.81delG (p.Trp27Cysfs) SDHC:c.303delG (p.Trp101Cysfs) SDHC:c.126delG (p.Trp42Cysfs) SDHC:c.72delG (p.Trp24Cysfs) SDHC:c.183del (p.Trp61fs) SDHB:c.565T>C SDHB:c.565T>C (p.Cys189Arg) SDHB:c.523dup SDHB:c.523dup (p.Glu175fs) SDHC:c.-540G>T SDHC:c.20+1G>T SDHC:c.87_88CT[2] (p.Leu31Phefs) SDHC:c.366_367CT[2] (p.Leu124Phefs) SDHC:c.189_190CT[2] (p.Leu65Phefs) SDHC:c.183_184CT[2] (p.Leu63Phefs) SDHC:c.138_139CT[2] (p.Leu48Phefs) SDHC:c.135_136CT[2] (p.Leu47Phefs) SDHC:c.246_247CT[2] (p.Leu84Phefs) SDHC:c.250_251del (p.Leu84fs) SDHC:c.242-5649TC[2] SDHC:c.140-5649TC[2] SDHB:c.466del (p.Tyr156fs) SDHC:c.124delT (p.Trp42Glyfs) SDHC:c.67delT (p.Trp23Glyfs) SDHC:c.13delT (p.Trp5Glyfs) SDHC:c.124del (p.Trp42fs) SDHC:c.77+4772del SDHC:c.21-12152del SDHD:c.124_125del (p.Glu42fs) SDHD:c.53-939_53-938del SDHB:c.598dup (p.Trp200fs) SDHB:c.445_446dup (p.Gln149fs) SDHC:c.112del (p.Arg38fs) SDHC:c.112delC (p.Arg38Valfs) SDHC:c.334delC (p.Arg112Valfs) SDHC:c.157delC (p.Arg53Valfs) SDHC:c.103delC (p.Arg35Valfs) SDHC:c.214delC (p.Arg72Valfs) SDHC:c.214del (p.Arg72fs) SDHB:c.75del (p.Ser26fs) SDHB:c.450C>G (p.Tyr150Ter) SDHB:c.598del (p.Trp200fs) SDHC:c.125_126delAC (p.Asn42Ilefs) SDHC:c.404_405delAC (p.Asn135Ilefs) SDHC:c.227_228delAC (p.Asn76Ilefs) SDHC:c.221_222delAC (p.Asn74Ilefs) SDHC:c.176_177delAC (p.Asn59Ilefs) SDHC:c.173_174delAC (p.Asn58Ilefs) SDHC:c.284_285delAC (p.Asn95Ilefs) SDHC:c.284_285del (p.Asn95fs) SDHC:c.242-5610_242-5609del SDHC:c.140-5610_140-5609del SDHB:c.249del (p.Asp84fs) SDHB:c.206G>T SDHB:c.206G>T (p.Gly69Val) SDHB:c.563A>G (p.Tyr188Cys) SDHB:c.617A>G (p.Tyr206Cys) | nucleaotide-sequencing quantitative polymerase chain reaction multiplex ligation-dependent probe amplification | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. The Journal of clinical endocrinology and metabolism:2009 | |||
SDHB gene | Carcinoma Kidney Neoplasm Gastrointestinal Stromal Tumors Paraganglioma Pheochromocytoma pgl4 syndrome sarcomatoid glomeruli type 2 paraganglioma syndrome type 4 | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.423+1G>A SDHB:c.166_170del (p.Pro56fs) | Renal tumors associated with germline SDHB mutation show distinctive morphology. The American journal of surgical pathology:2011 | |||||
RET gene VHL gene SDHC gene SDHD gene | Pheochromocytoma Paraganglioma | 2 | RET:c.1309G>A (p.Gly437Ser) RET:c.1597G>A (p.Gly533Ser) RET:c.1159G>A (p.Gly387Ser) RET:c.1201G>A (p.Gly401Ser) RET:c.1072G>A (p.Gly358Ser) RET:c.871G>A (p.Gly291Ser) RET:c.700G>A (p.Gly234Ser) SDHB:c.260T>C (p.Leu87Ser) SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHC:c.113G>A (p.Arg38His) SDHC:c.335G>A (p.Arg112His) SDHC:c.158G>A (p.Arg53His) SDHC:c.104G>A (p.Arg35His) SDHC:c.215G>A (p.Arg72His) SDHB:c.287-2A>G SDHC:c.113G>T (p.Arg38Leu) SDHC:c.335G>T (p.Arg112Leu) SDHC:c.158G>T (p.Arg53Leu) SDHC:c.104G>T (p.Arg35Leu) SDHC:c.215G>T (p.Arg72Leu) VHL:c.460C>T (p.Pro154Ser) VHL:c.*18-3154C>T VHL:c.341-3154C>T SDHB:c.598T>C (p.Trp200Arg) SDHA:c.1752_1753delinsGT SDHA:c.1608_1609inv (p.Arg537Trp) SDHA:c.1752_1753inv (p.Arg585Trp) SDHA:c.1552-2967_1552-2966inv VHL:c.492G>C (p.Gln164His) VHL:c.*46G>C VHL:c.369G>C (p.Gln123His) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.77+2dup SDHC:c.20+9247dup SDHB:c.202T>C (p.Cys68Arg) SDHC:c.112C>G (p.Arg38Gly) SDHC:c.334C>G (p.Arg112Gly) SDHC:c.157C>G (p.Arg53Gly) SDHC:c.103C>G (p.Arg35Gly) SDHC:c.214C>G (p.Arg72Gly) SDHB:c.464C>T (p.Pro155Leu) SDHB:c.332T>C SDHB:c.332T>C (p.Leu111Pro) SDHA:c.316G>C SDHA:c.316G>C (p.Gly106Arg) SDHA:c.313-461G>C SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHD:c.92G>C (p.Arg31Thr) SDHD:c.209G>C (p.Arg70Thr) SDHD:c.169+933G>C SDHD:c.209G>C SDHB:c.206G>T SDHB:c.206G>T (p.Gly69Val) RET:c.835G>A (p.Gly279Ser) | A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme:2012 | ||||
SDHB gene SDHAF2 gene SDHC gene SDHD gene | Paraganglioma Pheochromocytoma paragangliomas-pheochromocytomas hereditary paraganglioma | 1045 | p.Asp92Tyr c.274G>T | SDHAF2:c.232G>A SDHAF2:c.232G>A (p.Gly78Arg) SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.157G>T (p.Asp53Tyr) SDHD:c.274G>T SDHD:c.274G>T (p.Asp92Tyr) SDHD:c.169+998G>T SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHD:c.284T>C SDHD:c.167T>C (p.Leu56Pro) SDHD:c.284T>C (p.Leu95Pro) SDHD:c.169+1008T>C SDHB:c.423+1G>A SDHB:c.136C>T (p.Arg46Ter) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.141G>A (p.Trp47Ter) SDHD:c.315G>A SDHD:c.170G>A (p.Trp57Ter) SDHD:c.198G>A (p.Trp66Ter) SDHD:c.*13G>A SDHD:c.315G>A (p.Trp105Ter) SDHD:c.394delT SDHD:c.249del (p.Gln84fs) SDHD:c.277del (p.Ser93fs) SDHD:c.*92del SDHD:c.394del (p.Ser132fs) SDHD:c.342T>A SDHD:c.197T>A (p.Met66Lys) SDHD:c.225T>A (p.Tyr75Ter) SDHD:c.*40T>A SDHD:c.342T>A (p.Tyr114Ter) SDHD:c.416T>G SDHD:c.*13T>G SDHD:c.299T>G (p.Leu100Arg) SDHD:c.*114T>G SDHD:c.416T>G (p.Leu139Arg) SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHD:c.171del (p.Ala58fs) SDHD:c.288del (p.Ala97fs) SDHD:c.169+1012del SDHAF2:c.233G>A (p.Gly78Glu) SDHAF2:c.233G>A | High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. Clinical genetics:2012 | |||
SDHD gene SDHC gene SDHB gene | Renal Cell Carcinoma Carotid Body Paraganglioma Kidney Neoplasm Malignant neoplasm of kidney leiomyomatosis hereditary kidney cancer | 14 | 12 | p.Arg133Ter | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.286+2T>A SDHB:c.689G>A (p.Arg230His) SDHC:c.238C>T (p.Arg80Ter) SDHC:c.517C>T (p.Arg173Ter) SDHC:c.340C>T (p.Arg114Ter) SDHC:c.334C>T (p.Arg112Ter) SDHC:c.289C>T (p.Arg97Ter) SDHC:c.286C>T (p.Arg96Ter) SDHC:c.397C>T (p.Arg133Ter) SDHC:c.242-5497C>T SDHC:c.140-5497C>T SDHB:c.541-2A>G SDHB:c.137G>A (p.Arg46Gln) SDHB:c.379A>C (p.Ile127Leu) SDHC:c.228G>A (p.Trp76Ter) SDHC:c.507G>A (p.Trp169Ter) SDHC:c.330G>A (p.Trp110Ter) SDHC:c.324G>A (p.Trp108Ter) SDHC:c.279G>A (p.Trp93Ter) SDHC:c.276G>A (p.Trp92Ter) SDHC:c.387G>A (p.Trp129Ter) SDHC:c.242-5507G>A SDHC:c.140-5507G>A SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) SDHC:c.217_232del16 (p.Tyr73Glyfs) SDHC:c.496_511del16 (p.Tyr166Glyfs) SDHC:c.319_334del16 (p.Tyr107Glyfs) SDHC:c.313_328del16 (p.Tyr105Glyfs) SDHC:c.268_283del16 (p.Tyr90Glyfs) SDHC:c.265_280del16 (p.Tyr89Glyfs) SDHC:c.376_391del16 (p.Tyr126Glyfs) SDHC:c.376_391del (p.Tyr126fs) SDHC:c.242-5518_242-5503del SDHC:c.140-5518_140-5503del SDHC:c.247_248delAA (p.Lys83Valfs) SDHC:c.238_239delAA (p.Lys80Valfs) SDHC:c.190_191del (p.Lys64fs) SDHC:c.190_191delAA (p.Lys64Valfs) SDHC:c.349_350del (p.Lys117fs) SDHC:c.469_470delAA (p.Lys157Valfs) SDHC:c.292_293delAA (p.Lys98Valfs) SDHC:c.286_287delAA (p.Lys96Valfs) SDHC:c.242-5545_242-5544del SDHC:c.241_242delAA (p.Lys81Valfs) SDHC:c.140-5545_140-5544del SDHC:c.227G>A (p.Trp76Ter) SDHC:c.506G>A (p.Trp169Ter) SDHC:c.329G>A (p.Trp110Ter) SDHC:c.323G>A (p.Trp108Ter) SDHC:c.278G>A (p.Trp93Ter) SDHC:c.275G>A (p.Trp92Ter) SDHC:c.386G>A (p.Trp129Ter) SDHC:c.242-5508G>A SDHC:c.140-5508G>A | Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. The Journal of urology:2012 | ||
VHL gene TMEM127 gene SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene RET gene MAX gene | Paraganglioma Pheochromocytoma head and neck paraganglioma | 205 | SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHB:c.725G>A (p.Arg242His) SDHB:c.487T>C (p.Ser163Pro) SDHC:c.148C>T (p.Arg50Cys) SDHC:c.91C>T (p.Arg31Cys) SDHC:c.37C>T (p.Arg13Cys) SDHC:c.77+4796C>T SDHC:c.21-12128C>T SDHA:c.91C>T SDHA:c.91C>T (p.Arg31Ter) SDHB:c.72+1G>T SDHA:c.1753C>T SDHA:c.1609C>T (p.Arg537Trp) SDHA:c.1753C>T (p.Arg585Trp) SDHA:c.1552-2966C>T SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHA:c.136A>G SDHA:c.136A>G (p.Lys46Glu) SDHB:c.587G>A (p.Cys196Tyr) MAX:c.*198C>T MAX:c.*214C>T MAX:c.224C>T (p.Ser75Leu) MAX:c.425C>T (p.Ser142Leu) MAX:c.398C>T (p.Ser133Leu) MAX:c.144+17174C>T MAX:c.171+17174C>T TMEM127:c.268G>A TMEM127:c.268G>A (p.Val90Met) SDHA:c.1752_1753delinsGT SDHA:c.1608_1609inv (p.Arg537Trp) SDHA:c.1752_1753inv (p.Arg585Trp) SDHA:c.1552-2967_1552-2966inv SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.77+2dup SDHC:c.20+9247dup SDHA:c.1338del SDHA:c.1194del (p.His399fs) SDHA:c.1338del (p.His447fs) SDHB:c.789del SDHB:c.789del (p.Ile263fs) TMEM127:c.512delinsGCC TMEM127:c.512delinsGCC (p.Val171fs) SDHD:c.312C>T SDHD:c.195C>T (p.His65=) SDHD:c.312C>T (p.His104=) SDHD:c.169+1036C>T SDHA:c.1273G>A SDHA:c.1129G>A (p.Val377Met) SDHA:c.1273G>A (p.Val425Met) SDHA:c.1002G>A SDHA:c.858G>A (p.Ala286=) SDHA:c.1002G>A (p.Ala334=) SDHA:c.1623G>A SDHA:c.1479G>A (p.Lys493=) SDHA:c.1623G>A (p.Lys541=) SDHA:c.1552-3330G>A SDHA:c.549C>T SDHA:c.405C>T (p.Gly135=) SDHA:c.549C>T (p.Gly183=) SDHA:c.923C>T SDHA:c.779C>T (p.Thr260Met) SDHA:c.923C>T (p.Thr308Met) SDHAF2:c.319C>T (p.Arg107Cys) SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHB:c.747delG (p.Met251Terfs) SDHB:c.801delG (p.Met269Terfs) SDHB:c.801del (p.Lys268_Met269insTer) | sanger sequencing | A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism:2013 | |||
SDHC gene SDHD gene SDHB gene | Paraganglioma thoracic paragangliomas related paraganglioma associated paragangliomas hereditary paraganglioma | 8 | SDHC:c.242-5488G>T SDHC:c.303+1G>T SDHC:c.140-5488G>T SDHC:c.246+1G>T SDHC:c.405+1G>T SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHC:c.238C>T (p.Arg80Ter) SDHC:c.517C>T (p.Arg173Ter) SDHC:c.340C>T (p.Arg114Ter) SDHC:c.334C>T (p.Arg112Ter) SDHC:c.289C>T (p.Arg97Ter) SDHC:c.286C>T (p.Arg96Ter) SDHC:c.397C>T (p.Arg133Ter) SDHC:c.242-5497C>T SDHC:c.140-5497C>T SDHC:c.21-2A>G SDHC:c.20+9187A>G SDHC:c.228G>A (p.Trp76Ter) SDHC:c.507G>A (p.Trp169Ter) SDHC:c.330G>A (p.Trp110Ter) SDHC:c.324G>A (p.Trp108Ter) SDHC:c.279G>A (p.Trp93Ter) SDHC:c.276G>A (p.Trp92Ter) SDHC:c.387G>A (p.Trp129Ter) SDHC:c.242-5507G>A SDHC:c.140-5507G>A SDHC:c.405+1G>C SDHC:c.242-5488G>C SDHC:c.303+1G>C SDHC:c.140-5488G>C SDHC:c.246+1G>C SDHC:c.217_232del16 (p.Tyr73Glyfs) SDHC:c.496_511del16 (p.Tyr166Glyfs) SDHC:c.319_334del16 (p.Tyr107Glyfs) SDHC:c.313_328del16 (p.Tyr105Glyfs) SDHC:c.268_283del16 (p.Tyr90Glyfs) SDHC:c.265_280del16 (p.Tyr89Glyfs) SDHC:c.376_391del16 (p.Tyr126Glyfs) SDHC:c.376_391del (p.Tyr126fs) SDHC:c.242-5518_242-5503del SDHC:c.140-5518_140-5503del SDHC:c.405+1del SDHC:c.303+1del SDHC:c.140-5488del SDHC:c.246+1del SDHC:c.242-5488del SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHC:c.131dup (p.Leu44fs) SDHC:c.131dup (p.Leu44Phefs) SDHC:c.353dup (p.Leu118Phefs) SDHC:c.176dup (p.Leu59Phefs) SDHC:c.122dup (p.Leu41Phefs) SDHC:c.233dup (p.Leu78Phefs) SDHC:c.233dup (p.Leu78fs) SDHC:c.77+1G>A SDHC:c.20+9246G>A SDHC:c.86delC (p.Pro29Leufs) SDHC:c.29delC (p.Pro10Leufs) SDHC:c.-26delC SDHC:c.86del (p.Pro29fs) SDHC:c.77+4734del SDHC:c.21-12190del SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.247_248delAA (p.Lys83Valfs) SDHC:c.238_239delAA (p.Lys80Valfs) SDHC:c.190_191del (p.Lys64fs) SDHC:c.190_191delAA (p.Lys64Valfs) SDHC:c.349_350del (p.Lys117fs) SDHC:c.469_470delAA (p.Lys157Valfs) SDHC:c.292_293delAA (p.Lys98Valfs) SDHC:c.286_287delAA (p.Lys96Valfs) SDHC:c.242-5545_242-5544del SDHC:c.241_242delAA (p.Lys81Valfs) SDHC:c.140-5545_140-5544del SDHC:c.227G>A (p.Trp76Ter) SDHC:c.506G>A (p.Trp169Ter) SDHC:c.329G>A (p.Trp110Ter) SDHC:c.323G>A (p.Trp108Ter) SDHC:c.278G>A (p.Trp93Ter) SDHC:c.275G>A (p.Trp92Ter) SDHC:c.386G>A (p.Trp129Ter) SDHC:c.242-5508G>A SDHC:c.140-5508G>A SDHC:c.119dup (p.Gly41Trpfs) SDHC:c.398dup (p.Gly134Trpfs) SDHC:c.221dup (p.Gly75Trpfs) SDHC:c.215dup (p.Gly73Trpfs) SDHC:c.170dup (p.Gly58Trpfs) SDHC:c.167dup (p.Gly57Trpfs) SDHC:c.278dup (p.Gly94Trpfs) SDHC:c.278dup (p.Gly94fs) SDHC:c.242-5616dup SDHC:c.140-5616dup SDHC:c.179+1G>T SDHC:c.77+4828G>T SDHC:c.21-12096G>T SDHC:c.112C>G (p.Arg38Gly) SDHC:c.334C>G (p.Arg112Gly) SDHC:c.157C>G (p.Arg53Gly) SDHC:c.103C>G (p.Arg35Gly) SDHC:c.214C>G (p.Arg72Gly) SDHC:c.179+1G>C SDHC:c.77+4828G>C SDHC:c.21-12096G>C SDHC:c.78-1G>T SDHC:c.77+4725G>T SDHC:c.21-12199G>T SDHC:c.88dup (p.Ser30Phefs) SDHC:c.367dup (p.Ser123Phefs) SDHC:c.190dup (p.Ser64Phefs) SDHC:c.184dup (p.Ser62Phefs) SDHC:c.139dup (p.Ser47Phefs) SDHC:c.136dup (p.Ser46Phefs) SDHC:c.247dup (p.Ser83Phefs) SDHC:c.247dup (p.Ser83fs) SDHC:c.242-5647dup SDHC:c.140-5647dup SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHC:c.175delT (p.Tyr59Thrfs) SDHC:c.118delT (p.Tyr40Thrfs) SDHC:c.64delT (p.Tyr22Thrfs) SDHC:c.175del (p.Tyr59fs) SDHC:c.77+4823del SDHC:c.21-12101del SDHC:c.24delG (p.Trp8Cysfs) SDHC:c.81del (p.Trp27fs) SDHC:c.81delG (p.Trp27Cysfs) SDHC:c.303delG (p.Trp101Cysfs) SDHC:c.126delG (p.Trp42Cysfs) SDHC:c.72delG (p.Trp24Cysfs) SDHC:c.183del (p.Trp61fs) SDHC:c.-540G>T SDHC:c.20+1G>T SDHC:c.87_88CT[2] (p.Leu31Phefs) SDHC:c.366_367CT[2] (p.Leu124Phefs) SDHC:c.189_190CT[2] (p.Leu65Phefs) SDHC:c.183_184CT[2] (p.Leu63Phefs) SDHC:c.138_139CT[2] (p.Leu48Phefs) SDHC:c.135_136CT[2] (p.Leu47Phefs) SDHC:c.246_247CT[2] (p.Leu84Phefs) SDHC:c.250_251del (p.Leu84fs) SDHC:c.242-5649TC[2] SDHC:c.140-5649TC[2] SDHC:c.124delT (p.Trp42Glyfs) SDHC:c.67delT (p.Trp23Glyfs) SDHC:c.13delT (p.Trp5Glyfs) SDHC:c.124del (p.Trp42fs) SDHC:c.77+4772del SDHC:c.21-12152del SDHC:c.112del (p.Arg38fs) SDHC:c.112delC (p.Arg38Valfs) SDHC:c.334delC (p.Arg112Valfs) SDHC:c.157delC (p.Arg53Valfs) SDHC:c.103delC (p.Arg35Valfs) SDHC:c.214delC (p.Arg72Valfs) SDHC:c.214del (p.Arg72fs) SDHC:c.125_126delAC (p.Asn42Ilefs) SDHC:c.404_405delAC (p.Asn135Ilefs) SDHC:c.227_228delAC (p.Asn76Ilefs) SDHC:c.221_222delAC (p.Asn74Ilefs) SDHC:c.176_177delAC (p.Asn59Ilefs) SDHC:c.173_174delAC (p.Asn58Ilefs) SDHC:c.284_285delAC (p.Asn95Ilefs) SDHC:c.284_285del (p.Asn95fs) SDHC:c.242-5610_242-5609del SDHC:c.140-5610_140-5609del | The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). The Journal of clinical endocrinology and metabolism:2014 | ||||
MAX gene TMEM127 gene NF1 gene RET gene EPAS1 gene VHL gene SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene | Paraganglioma Pheochromocytoma | 89 | SDHB:c.268C>T (p.Arg90Ter) VHL:c.475A>G VHL:c.475A>G (p.Lys159Glu) VHL:c.*29A>G VHL:c.352A>G (p.Lys118Glu) SDHC:c.224A>T (p.Tyr75Phe) SDHC:c.610A>T (p.Met204Leu) SDHC:c.433A>T (p.Met145Leu) SDHC:c.427A>T (p.Met143Leu) SDHC:c.382A>T (p.Met128Leu) SDHC:c.379A>T (p.Met127Leu) SDHC:c.269A>T (p.Tyr90Phe) SDHC:c.490A>T (p.Met164Leu) | sanger sequencing multiplex ligation-dependent probe amplification microarray | Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. PloS one:2014 | |||
SDHB gene SDHD gene SDHC gene AIP gene MEN1 gene MAX gene VHL gene RET gene SDHAF2 gene SDHA gene | Pituitary Adenoma Paraganglioma pituitary | 39 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHA:c.91C>T SDHA:c.91C>T (p.Arg31Ter) SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHB:c.80G>A (p.Arg27Gln) SDHA:c.969C>A SDHA:c.825C>A (p.Gly275=) SDHA:c.969C>A (p.Gly323=) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A | sanger sequencing | Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. The Journal of clinical endocrinology and metabolism:2015 | |||
SDHB gene | Renal Cell Carcinoma Abnormality of mitochondrial metabolism pituitary gastrointestinal stromal parasympathetic paragangliomas phaeochromocytomas | p.Arg242His p.Pro197Arg p.Cys101Tyr c.311delA c.88delC p.Arg90Ter p.Arg27Ter | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHB:c.725G>A (p.Arg242His) SDHB:c.716_719del SDHB:c.716_719del (p.Ser239fs) SDHB:c.79C>T (p.Arg27Ter) SDHB:c.136C>G (p.Arg46Gly) SDHB:c.380T>G (p.Ile127Ser) SDHB:c.311delinsGG (p.Asn104fs) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.88del (p.Gln30fs) SDHB:c.724C>A (p.Arg242Ser) SDHB:c.296G>A (p.Gly99Asp) SDHB:c.379A>C (p.Ile127Leu) SDHB:c.379A>G SDHB:c.379A>G (p.Ile127Val) SDHB:c.127G>C (p.Ala43Pro) SDHB:c.137G>T (p.Arg46Leu) SDHB:c.302G>A (p.Cys101Tyr) | Structural and functional consequences of succinate dehydrogenase subunit B mutations. Endocrine-related cancer:2015 | ||||
SDHB gene | Renal Cell Carcinoma Pheochromocytoma head-and-neck-paraganglioma | 91 | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.654G>A (p.Trp218Ter) | Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers. Familial cancer:2017 | ||||
SDHB gene | Paraganglioma Pheochromocytoma | 103 | p.Val140Phe p.Arg46Ter p.Arg90Ter c.IVS1+1G>T p.Ile127Ser | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHB:c.418G>T (p.Val140Phe) SDHB:c.575G>A (p.Cys192Tyr) SDHB:c.286G>A (p.Gly96Ser) SDHB:c.72+1G>T SDHB:c.541-2A>G SDHB:c.380T>G (p.Ile127Ser) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.287G>A (p.Gly96Asp) SDHB:c.683_684del (p.Glu228fs) SDHB:c.642G>C (p.Gln214His) SDHB:c.183T>G (p.Tyr61Ter) SDHB:c.642G>T (p.Gln214His) SDHB:c.26T>A (p.Leu9Ter) SDHB:c.445C>T (p.Gln149Ter) SDHB:c.32G>A (p.Arg11His) SDHB:c.136C>T (p.Arg46Ter) | deletion | SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. Journal of cancer research and clinical oncology:2017 | ||
NF1 gene TMEM127 gene SDHAF2 gene SDHA gene RET gene MAX gene VHL gene SDHD gene SDHC gene SDHB gene | Paraganglioma Pheochromocytoma | 101 | p.Arg90Ter c.268C>T | SDHB:c.79C>T (p.Arg27Ter) VHL:c.482G>A (p.Arg161Gln) VHL:c.*36G>A VHL:c.359G>A (p.Arg120Gln) SDHD:c.335C>T SDHD:c.190C>T (p.Leu64=) SDHD:c.218C>T (p.Thr73Ile) SDHD:c.*33C>T SDHD:c.335C>T (p.Thr112Ile) VHL:c.355T>C (p.Phe119Leu) VHL:c.*18-3259T>C VHL:c.341-3259T>C TMEM127:c.281G>A (p.Arg94Gln) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHB:c.268C>T (p.Arg90Ter) | polymerase chain reaction sanger sequencing nucleaotide-sequencing | Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma. Oncotarget:2019 | ||
IDH2 gene FH gene | Paraganglioma Pheochromocytoma metabolic | 391 | SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.14G>A (p.Trp5Ter) SDHD:c.284T>C SDHD:c.167T>C (p.Leu56Pro) SDHD:c.284T>C (p.Leu95Pro) SDHD:c.169+1008T>C SDHB:c.32G>A (p.Arg11His) FH:c.908T>C (p.Leu303Ser) FH:c.908T>C SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHB:c.72+1G>T SDHA:c.1753C>T SDHA:c.1609C>T (p.Arg537Trp) SDHA:c.1753C>T (p.Arg585Trp) SDHA:c.1552-2966C>T SDHB:c.649C>T (p.Arg217Cys) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.49A>G (p.Thr17Ala) SDHA:c.1752_1753delinsGT SDHA:c.1608_1609inv (p.Arg537Trp) SDHA:c.1752_1753inv (p.Arg585Trp) SDHA:c.1552-2967_1552-2966inv SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T FH:c.700A>G (p.Thr234Ala) SDHD:c.49C>T SDHD:c.49C>T (p.Arg17Ter) SDHB:c.287-3C>G SDHAF2:c.320G>A (p.Arg107His) SDHA:c.1772C>T SDHA:c.1628C>T (p.Ala543Val) SDHA:c.1772C>T (p.Ala591Val) SDHA:c.1552-2947C>T SDHC:c.98T>C (p.Met33Thr) SDHC:c.320T>C (p.Met107Thr) SDHC:c.143T>C (p.Met48Thr) SDHC:c.89T>C (p.Met30Thr) SDHC:c.200T>C (p.Met67Thr) SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHB:c.572G>A SDHB:c.572G>A (p.Cys191Tyr) | nucleaotide-sequencing | Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genetics in medicine : official journal of the American College of Medical Genetics:2019 | |||
SDHB gene | Paraganglioma Pheochromocytoma | 13 | p.Arg90Ter | SDHB:c.268C>T (p.Arg90Ter) | One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas. Endocrine:2020 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Variations from text | Variations from curated data | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|
SDHB gene SDHC gene SDHD gene RET gene | Paraganglioma Neurofibromatosis 1 Von Hippel-Lindau Syndrome Multiple Endocrine Neoplasia Type 2a abdominal paraganglioma familial paraganglioma | 27(year) | male | p.Arg242His | SDHB:c.725G>A (p.Arg242His) | missense mutation | Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. The Journal of clinical endocrinology and metabolism:2002 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|---|
SDHD gene SDHB gene | Thyroid carcinoma Paraganglioma Papillary thyroid carcinoma Renal Cell Carcinoma renal cell malignant disease thoracic head and neck paragangliomas type 1 type 4 | 417 | SDHB:c.136C>G (p.Arg46Gly) SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHB:c.725G>A (p.Arg242His) SDHB:c.716_719del SDHB:c.716_719del (p.Ser239fs) SDHB:c.79C>T (p.Arg27Ter) SDHB:c.287-1G>C SDHB:c.260T>C (p.Leu87Ser) SDHB:c.166_170del (p.Pro56fs) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.21C>T (p.Leu7=) SDHB:c.587G>A (p.Cys196Tyr) SDHB:c.194T>C (p.Leu65Pro) SDHB:c.287-2A>G SDHB:c.3G>A (p.Met1Ile) SDHB:c.1A>T (p.Met1Leu) SDHB:c.683_684del (p.Glu228fs) SDHD:c.443_444delGCinsTT SDHD:c.*40_*41delinsTT SDHD:c.326_327delinsTT (p.Gly109Val) SDHD:c.*141_*142delinsTT SDHD:c.443_444delinsTT (p.Gly148Val) SDHB:c.424-3C>G SDHB:c.677del SDHB:c.677del (p.Phe226fs) SDHB:c.765+1G>A SDHB:c.137G>T (p.Arg46Leu) SDHB:c.157G>A SDHB:c.157G>A (p.Gly53Arg) SDHB:c.193C>G (p.Leu65Val) SDHB:c.193C>G SDHB:c.18_21delCCTCinsACT (p.Ser8Profs) SDHB:c.18_21delinsACT (p.Ser8fs) | Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA:2004 | |||||
RET gene VHL gene SDHB gene SDHD gene | Paraganglioma Pheochromocytoma head and neck head and neck paragangliomas | 56 | SDHB:c.725G>A (p.Arg242His) SDHB:c.487T>C (p.Ser163Pro) VHL:c.376G>A (p.Asp126Asn) VHL:c.*18-3238G>A VHL:c.341-3238G>A SDHB:c.689G>A (p.Arg230His) SDHB:c.166_170del (p.Pro56fs) SDHB:c.744C>G (p.Asn248Lys) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHD:c.209G>T SDHD:c.92G>T (p.Arg31Met) SDHD:c.209G>T (p.Arg70Met) SDHD:c.169+933G>T SDHD:c.314+1G>T SDHD:c.169+1039G>T SDHD:c.197+1G>T RET:c.2392+19T>C RET:c.1630+19T>C SDHD:c.314+1G>C SDHD:c.169+1039G>C SDHD:c.197+1G>C | High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. Journal of hypertension:2008 | |||||
SDHD gene SDHC gene | Paraganglioma Malignant Paraganglionic Neoplasm pelvic paraganglioma thoracic-abdominal head and neck and head and neck paraganglioma pelvic paragangliomas abdominal head and neck hereditary paraganglioma | 445 | SDHC:c.238C>T (p.Arg80Ter) SDHC:c.517C>T (p.Arg173Ter) SDHC:c.340C>T (p.Arg114Ter) SDHC:c.334C>T (p.Arg112Ter) SDHC:c.289C>T (p.Arg97Ter) SDHC:c.286C>T (p.Arg96Ter) SDHC:c.397C>T (p.Arg133Ter) SDHC:c.242-5497C>T SDHC:c.140-5497C>T SDHB:c.758G>A (p.Cys253Tyr) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.688C>T (p.Arg230Cys) SDHB:c.649C>T (p.Arg217Cys) SDHB:c.574T>C (p.Cys192Arg) SDHB:c.541-2A>G SDHB:c.374C>A (p.Ser125Ter) SDHB:c.286+1G>A SDHB:c.166_170del (p.Pro56fs) SDHB:c.88del (p.Gln30fs) SDHD:c.304C>A SDHD:c.187C>A (p.His63Asn) SDHD:c.304C>A (p.His102Asn) SDHD:c.169+1028C>A SDHB:c.343C>T (p.Arg115Ter) SDHB:c.718_721del (p.Leu240fs) SDHB:c.19_41dup (p.Pro14_Ala15insSerProTer) SDHB:c.713del (p.Phe238fs) SDHB:c.642_642+6del SDHB:c.587G>A (p.Cys196Tyr) SDHD:c.147dup SDHD:c.147dup (p.His50fs) SDHD:c.147dupA SDHD:c.53-916dup SDHB:c.201-2A>C SDHD:c.10dupC SDHD:c.10dup (p.Leu4fs) SDHD:c.56del (p.Gly19fs) SDHD:c.173delG SDHD:c.173del (p.Gly58fs) SDHD:c.169+897del SDHC:c.1A>G (p.Met1Val) SDHC:c.-560A>G SDHC:c.-229A>G SDHC:c.113G>A (p.Arg38His) SDHC:c.335G>A (p.Arg112His) SDHC:c.158G>A (p.Arg53His) SDHC:c.104G>A (p.Arg35His) SDHC:c.215G>A (p.Arg72His) SDHB:c.591del (p.Ser198fs) SDHB:c.761C>T (p.Pro254Leu) SDHB:c.650G>A (p.Arg217His) SDHB:c.499A>T (p.Lys167Ter) SDHB:c.141G>A (p.Trp47Ter) SDHB:c.22_23del (p.Ser8fs) SDHD:c.281C>G SDHD:c.164C>G (p.Ser55Cys) SDHD:c.281C>G (p.Ser94Cys) SDHD:c.169+1005C>G SDHB:c.287-2A>G SDHC:c.21-2A>G SDHC:c.20+9187A>G SDHB:c.654G>A (p.Trp218Ter) SDHB:c.424-1G>A SDHB:c.72+1G>A SDHB:c.392del (p.Pro131fs) SDHB:c.183T>G (p.Tyr61Ter) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHB:c.642+2T>G SDHB:c.540+1G>A SDHB:c.502C>T (p.Gln168Ter) SDHC:c.113G>T (p.Arg38Leu) SDHC:c.335G>T (p.Arg112Leu) SDHC:c.158G>T (p.Arg53Leu) SDHC:c.104G>T (p.Arg35Leu) SDHC:c.215G>T (p.Arg72Leu) SDHB:c.73-1G>T SDHD:c.3G>A SDHD:c.3G>A (p.Met1Ile) SDHC:c.1A>T (p.Met1Leu) SDHC:c.-560A>T SDHC:c.-229A>T SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHB:c.63dup SDHB:c.63dup (p.Cys22fs) SDHD:c.52+2T>C SDHC:c.131dup (p.Leu44fs) SDHC:c.131dup (p.Leu44Phefs) SDHC:c.353dup (p.Leu118Phefs) SDHC:c.176dup (p.Leu59Phefs) SDHC:c.122dup (p.Leu41Phefs) SDHC:c.233dup (p.Leu78Phefs) SDHC:c.233dup (p.Leu78fs) SDHC:c.77+1G>A SDHC:c.20+9246G>A SDHC:c.86delC (p.Pro29Leufs) SDHC:c.29delC (p.Pro10Leufs) SDHC:c.-26delC SDHC:c.86del (p.Pro29fs) SDHC:c.77+4734del SDHC:c.21-12190del SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) SDHB:c.26T>A (p.Leu9Ter) SDHB:c.650G>T SDHB:c.650G>T (p.Arg217Leu) SDHB:c.135T>G SDHB:c.135T>G (p.Tyr45Ter) SDHD:c.113_116dup (p.Ile40fs) SDHD:c.52+954GACC[3] SDHB:c.424-2A>G SDHB:c.200+1G>C SDHD:c.52+897G>T SDHC:c.119dup (p.Gly41Trpfs) SDHC:c.398dup (p.Gly134Trpfs) SDHC:c.221dup (p.Gly75Trpfs) SDHC:c.215dup (p.Gly73Trpfs) SDHC:c.170dup (p.Gly58Trpfs) SDHC:c.167dup (p.Gly57Trpfs) SDHC:c.278dup (p.Gly94Trpfs) SDHC:c.278dup (p.Gly94fs) SDHC:c.242-5616dup SDHC:c.140-5616dup SDHB:c.412delG SDHB:c.412del (p.Asp138fs) SDHB:c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs) SDHB:c.243_246dup (p.Val83Ter) SDHC:c.179+1G>T SDHC:c.77+4828G>T SDHC:c.21-12096G>T SDHB:c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer) SDHB:c.484G>T (p.Glu162Ter) SDHB:c.136C>G (p.Arg46Gly) SDHD:c.112C>T SDHD:c.112C>T (p.Arg38Ter) SDHD:c.53-951C>T SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.95C>A SDHD:c.95C>A (p.Ser32Ter) SDHD:c.52+940C>A SDHD:c.191_192delTC SDHD:c.74_75del (p.Leu25fs) SDHD:c.191_192del (p.Leu64fs) SDHD:c.169+911TC[2] SDHD:c.3G>C SDHD:c.3G>C (p.Met1Ile) SDHD:c.129G>A SDHD:c.129G>A (p.Trp43Ter) SDHD:c.53-934G>A SDHD:c.14G>A (p.Trp5Ter) SDHB:c.268C>T (p.Arg90Ter) SDHB:c.725G>A (p.Arg242His) SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHB:c.287-1G>C SDHB:c.600G>A (p.Trp200Ter) MPZ;SDHC:c.-530_-529dup MPZ;SDHC:c.20+11_20+12dup SDHB:c.111_112dup (p.Arg38fs) SDHB:c.286+2T>A SDHB:c.689G>A (p.Arg230His) SDHB:c.136C>T (p.Arg46Ter) SDHB:c.72+1G>T SDHB:c.260T>C (p.Leu87Ser) *387_?)del SDHB:c.22dup (p.Ser8fs) SDHB:c.183T>A (p.Tyr61Ter) SDHD:c.*13-2A>G SDHD:c.315-2A>G SDHD:c.170-2A>G SDHD:c.198-2A>G SDHB:c.210dup (p.Met71fs) SDHC:c.112C>G (p.Arg38Gly) SDHC:c.334C>G (p.Arg112Gly) SDHC:c.157C>G (p.Arg53Gly) SDHC:c.103C>G (p.Arg35Gly) SDHC:c.214C>G (p.Arg72Gly) SDHB:c.640C>T (p.Gln214Ter) SDHD:c.242delC SDHD:c.125del (p.Pro42fs) SDHD:c.242del (p.Pro81fs) SDHD:c.169+966del SDHC:c.179+1G>C SDHC:c.77+4828G>C SDHC:c.21-12096G>C SDHB:c.331_332del (p.Leu111fs) SDHB:c.649C>G (p.Arg217Gly) SDHB:c.605dup (p.Asn202fs) SDHB:c.73-1G>A SDHB:c.697A>T (p.Lys233Ter) SDHB:c.540_540+13del SDHC:c.78-1G>T SDHC:c.77+4725G>T SDHC:c.21-12199G>T SDHD:c.18_21delGCTG SDHD:c.18_21del (p.Leu7fs) SDHD:c.53-1_53delGCinsTT SDHD:c.53-1_53delinsTT SDHD:c.52+897_52+898delinsTT SDHD:c.13_14del (p.Trp5fs) SDHD:c.13_14del SDHD:c.13_14delTG SDHC:c.88dup (p.Ser30Phefs) SDHC:c.367dup (p.Ser123Phefs) SDHC:c.190dup (p.Ser64Phefs) SDHC:c.184dup (p.Ser62Phefs) SDHC:c.139dup (p.Ser47Phefs) SDHC:c.136dup (p.Ser46Phefs) SDHC:c.247dup (p.Ser83Phefs) SDHC:c.247dup (p.Ser83fs) SDHC:c.242-5647dup SDHC:c.140-5647dup SDHB:c.763A>G (p.Lys255Glu) SDHD:c.44_52+24del SDHC:c.175delT (p.Tyr59Thrfs) SDHC:c.118delT (p.Tyr40Thrfs) SDHC:c.64delT (p.Tyr22Thrfs) SDHC:c.175del (p.Tyr59fs) SDHC:c.77+4823del SDHC:c.21-12101del SDHD:c.92G>C (p.Arg31Thr) SDHD:c.209G>C (p.Arg70Thr) SDHD:c.169+933G>C SDHD:c.209G>C SDHD:c.52+1G>A SDHC:c.24delG (p.Trp8Cysfs) SDHC:c.81del (p.Trp27fs) SDHC:c.81delG (p.Trp27Cysfs) SDHC:c.303delG (p.Trp101Cysfs) SDHC:c.126delG (p.Trp42Cysfs) SDHC:c.72delG (p.Trp24Cysfs) SDHC:c.183del (p.Trp61fs) SDHB:c.565T>C SDHB:c.565T>C (p.Cys189Arg) SDHB:c.523dup SDHB:c.523dup (p.Glu175fs) SDHC:c.-540G>T SDHC:c.20+1G>T SDHC:c.87_88CT[2] (p.Leu31Phefs) SDHC:c.366_367CT[2] (p.Leu124Phefs) SDHC:c.189_190CT[2] (p.Leu65Phefs) SDHC:c.183_184CT[2] (p.Leu63Phefs) SDHC:c.138_139CT[2] (p.Leu48Phefs) SDHC:c.135_136CT[2] (p.Leu47Phefs) SDHC:c.246_247CT[2] (p.Leu84Phefs) SDHC:c.250_251del (p.Leu84fs) SDHC:c.242-5649TC[2] SDHC:c.140-5649TC[2] SDHB:c.466del (p.Tyr156fs) SDHC:c.124delT (p.Trp42Glyfs) SDHC:c.67delT (p.Trp23Glyfs) SDHC:c.13delT (p.Trp5Glyfs) SDHC:c.124del (p.Trp42fs) SDHC:c.77+4772del SDHC:c.21-12152del SDHD:c.124_125del (p.Glu42fs) SDHD:c.53-939_53-938del SDHB:c.598dup (p.Trp200fs) SDHB:c.445_446dup (p.Gln149fs) SDHC:c.112del (p.Arg38fs) SDHC:c.112delC (p.Arg38Valfs) SDHC:c.334delC (p.Arg112Valfs) SDHC:c.157delC (p.Arg53Valfs) SDHC:c.103delC (p.Arg35Valfs) SDHC:c.214delC (p.Arg72Valfs) SDHC:c.214del (p.Arg72fs) SDHB:c.75del (p.Ser26fs) SDHB:c.450C>G (p.Tyr150Ter) SDHB:c.598del (p.Trp200fs) SDHC:c.125_126delAC (p.Asn42Ilefs) SDHC:c.404_405delAC (p.Asn135Ilefs) SDHC:c.227_228delAC (p.Asn76Ilefs) SDHC:c.221_222delAC (p.Asn74Ilefs) SDHC:c.176_177delAC (p.Asn59Ilefs) SDHC:c.173_174delAC (p.Asn58Ilefs) SDHC:c.284_285delAC (p.Asn95Ilefs) SDHC:c.284_285del (p.Asn95fs) SDHC:c.242-5610_242-5609del SDHC:c.140-5610_140-5609del SDHB:c.249del (p.Asp84fs) SDHB:c.206G>T SDHB:c.206G>T (p.Gly69Val) SDHB:c.563A>G (p.Tyr188Cys) SDHB:c.617A>G (p.Tyr206Cys) | nucleaotide-sequencing quantitative polymerase chain reaction multiplex ligation-dependent probe amplification | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. The Journal of clinical endocrinology and metabolism:2009 | ||||
SDHD gene SDHC gene SDHB gene | Pheochromocytoma head and neck paraganglioma | 2700 | SDHD:c.118A>G SDHD:c.118A>G (p.Ile40Val) SDHD:c.53-945A>G SDHD:c.106C>T (p.Gln36Ter) SDHD:c.106C>T SDHD:c.52+951C>T SDHD:c.191_192delTC SDHD:c.74_75del (p.Leu25fs) SDHD:c.191_192del (p.Leu64fs) SDHD:c.169+911TC[2] SDHD:c.3G>C SDHD:c.3G>C (p.Met1Ile) SDHB:c.725G>A (p.Arg242His) SDHC:c.43C>T (p.Arg15Ter) SDHC:c.-69C>T SDHC:c.-187C>T SDHC:c.20+9211C>T SDHC:c.148C>T (p.Arg50Cys) SDHC:c.91C>T (p.Arg31Cys) SDHC:c.37C>T (p.Arg13Cys) SDHC:c.77+4796C>T SDHC:c.21-12128C>T SDHB:c.689G>A (p.Arg230His) SDHB:c.277T>C (p.Cys93Arg) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.689G>T (p.Arg230Leu) SDHB:c.688C>T (p.Arg230Cys) SDHB:c.649C>T (p.Arg217Cys) SDHB:c.541-2A>G SDHB:c.269G>A (p.Arg90Gln) SDHB:c.724C>A (p.Arg242Ser) SDHC:c.1A>G (p.Met1Val) SDHC:c.-560A>G SDHC:c.-229A>G SDHB:c.717dup (p.Leu240fs) SDHB:c.761C>T (p.Pro254Leu) SDHB:c.650G>A (p.Arg217His) SDHB:c.238A>G (p.Lys80Glu) SDHB:c.3G>A (p.Met1Ile) SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHD:c.3G>A SDHD:c.3G>A (p.Met1Ile) SDHC:c.1A>T (p.Met1Leu) SDHC:c.-560A>T SDHC:c.-229A>T SDHB:c.778G>C SDHB:c.778G>C (p.Gly260Arg) SDHB:c.789del SDHB:c.789del (p.Ile263fs) SDHB:c.650G>T SDHB:c.650G>T (p.Arg217Leu) SDHC:c.122G>A (p.Gly41Asp) SDHC:c.344G>A (p.Gly115Asp) SDHC:c.167G>A (p.Gly56Asp) SDHC:c.113G>A (p.Gly38Asp) SDHC:c.224G>A (p.Gly75Asp) SDHD:c.118A>C SDHD:c.118A>C (p.Ile40Leu) SDHD:c.53-945A>C SDHB:c.271A>T (p.Arg91Ter) SDHB:c.649C>G (p.Arg217Gly) SDHB:c.21del (p.Ser8fs) SDHC:c.173T>C (p.Ile58Thr) SDHC:c.116T>C (p.Ile39Thr) SDHC:c.62T>C (p.Ile21Thr) SDHC:c.77+4821T>C SDHC:c.21-12103T>C SDHB:c.747delG (p.Met251Terfs) SDHB:c.801delG (p.Met269Terfs) SDHB:c.801del (p.Lys268_Met269insTer) | Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer research:2009 | |||||
SDHD gene SDHB gene | Pheochromocytoma Paraganglioma head and neck extra-adrenal | 10 | SDHD:c.57delG SDHD:c.57del SDHD:c.57del (p.Leu20fs) SDHD:c.52+902del SDHB:c.725G>A (p.Arg242His) SDHB:c.286+2T>A SDHB:c.136C>T (p.Arg46Ter) SDHB:c.287G>A (p.Gly96Asp) SDHD:c.170-1G>T SDHD:c.169+893G>T SDHD:c.53-1G>T SDHB:c.287G>T (p.Gly96Val) | Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. Endocrine-related cancer:2009 | |||||
SDHB gene SDHD gene RET gene VHL gene | head and neck paraganglioma | 74 | SDHD:c.106C>T (p.Gln36Ter) SDHD:c.106C>T SDHD:c.52+951C>T SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHB:c.725G>A (p.Arg242His) SDHB:c.689G>A (p.Arg230His) SDHB:c.277T>C (p.Cys93Arg) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.688C>T (p.Arg230Cys) SDHB:c.166_170del (p.Pro56fs) SDHB:c.269G>A (p.Arg90Gln) SDHB:c.761C>T (p.Pro254Leu) SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) SDHB:c.557G>A (p.Cys186Tyr) SDHD:c.388dupG SDHD:c.243dup (p.His82fs) SDHD:c.271dup (p.Ala91fs) SDHD:c.*86dup SDHD:c.388dup (p.Ala130fs) SDHB:c.293G>A (p.Cys98Tyr) | Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. Cellular oncology : the official journal of the International Society for Cellular Oncology:2010 | |||||
SDHC gene SDHB gene PDGFRA gene KIT gene | Paraganglioma Gastrointestinal Stromal Tumors carney-stratakis syndrome | 34 | SDHC:c.405+1G>A SDHC:c.242-5488G>A SDHC:c.303+1G>A SDHC:c.140-5488G>A SDHC:c.246+1G>A SDHB:c.725G>A (p.Arg242His) SDHB:c.600G>T (p.Trp200Cys) SDHB:c.724C>A (p.Arg242Ser) SDHC:c.405+1G>C SDHC:c.242-5488G>C SDHC:c.303+1G>C SDHC:c.140-5488G>C SDHC:c.246+1G>C SDHB:c.274T>A (p.Ser92Thr) | western blot | Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proceedings of the National Academy of Sciences of the United States of America:2011 | ||||
SDHB gene TMEM127 gene SDHAF2 gene SDHD gene SDHC gene | Pheochromocytoma Paraganglioma | 269 | SDHD:c.337_340delGACT SDHD:c.192_195del (p.Thr65fs) SDHD:c.220_223del (p.Asp74fs) SDHD:c.*35_*38del SDHD:c.337_340del (p.Asp113fs) SDHC:c.242-5488G>T SDHC:c.303+1G>T SDHC:c.140-5488G>T SDHC:c.246+1G>T SDHC:c.405+1G>T SDHB:c.725G>A (p.Arg242His) SDHB:c.575G>C (p.Cys192Ser) SDHB:c.600G>A (p.Trp200Ter) SDHD:c.158C>T SDHD:c.158C>T (p.Pro53Leu) SDHD:c.53-905C>T SDHC:c.194del (p.Gly65fs) SDHC:c.194delG (p.Gly65Valfs) SDHC:c.580delG (p.Val194Leufs) SDHC:c.403delG (p.Val135Leufs) SDHC:c.397delG (p.Val133Leufs) SDHC:c.352delG (p.Val118Leufs) SDHC:c.349delG (p.Val117Leufs) SDHC:c.239delG (p.Gly80Valfs) SDHC:c.460delG (p.Val154Leufs) SDHC:c.460del (p.Val154fs) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.688C>T (p.Arg230Cys) SDHB:c.574T>C (p.Cys192Arg) SDHB:c.713del (p.Phe238fs) SDHB:c.724C>A (p.Arg242Ser) SDHC:c.1A>G (p.Met1Val) SDHC:c.-560A>G SDHC:c.-229A>G SDHB:c.591del (p.Ser198fs) SDHC:c.405+1G>C SDHC:c.242-5488G>C SDHC:c.303+1G>C SDHC:c.140-5488G>C SDHC:c.246+1G>C SDHC:c.1A>T (p.Met1Leu) SDHC:c.-560A>T SDHC:c.-229A>T SDHC:c.8C>T (p.Ala3Val) SDHC:c.-553C>T SDHC:c.-222C>T SDHB:c.412G>T (p.Asp138Tyr) SDHB:c.412delG SDHB:c.412del (p.Asp138fs) SDHD:c.*13-2A>G SDHD:c.315-2A>G SDHD:c.170-2A>G SDHD:c.198-2A>G SDHD:c.312C>T SDHD:c.195C>T (p.His65=) SDHD:c.312C>T (p.His104=) SDHD:c.169+1036C>T | nucleaotide-sequencing | point mutation | Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme:2012 | |||
SDHC gene VHL gene SDHD gene SDHB gene RET gene | Paraganglioma Pheochromocytoma | 256 | SDHB:c.725G>A (p.Arg242His) RET:c.641G>A (p.Cys214Tyr) RET:c.377G>A (p.Cys126Tyr) RET:c.1826G>A (p.Cys609Tyr) SDHB:c.418G>T (p.Val140Phe) SDHB:c.716C>T (p.Ser239Phe) SDHB:c.716C>G (p.Ser239Cys) SDHB:c.24C>T (p.Ser8=) | nucleaotide-sequencing multiplex ligation-dependent probe amplification | point mutation | Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden. World journal of surgery:2012 | |||
VHL gene TMEM127 gene SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene RET gene MAX gene | Paraganglioma Pheochromocytoma head and neck paraganglioma | 205 | SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHB:c.725G>A (p.Arg242His) SDHB:c.487T>C (p.Ser163Pro) SDHC:c.148C>T (p.Arg50Cys) SDHC:c.91C>T (p.Arg31Cys) SDHC:c.37C>T (p.Arg13Cys) SDHC:c.77+4796C>T SDHC:c.21-12128C>T SDHA:c.91C>T SDHA:c.91C>T (p.Arg31Ter) SDHB:c.72+1G>T SDHA:c.1753C>T SDHA:c.1609C>T (p.Arg537Trp) SDHA:c.1753C>T (p.Arg585Trp) SDHA:c.1552-2966C>T SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHA:c.136A>G SDHA:c.136A>G (p.Lys46Glu) SDHB:c.587G>A (p.Cys196Tyr) MAX:c.*198C>T MAX:c.*214C>T MAX:c.224C>T (p.Ser75Leu) MAX:c.425C>T (p.Ser142Leu) MAX:c.398C>T (p.Ser133Leu) MAX:c.144+17174C>T MAX:c.171+17174C>T TMEM127:c.268G>A TMEM127:c.268G>A (p.Val90Met) SDHA:c.1752_1753delinsGT SDHA:c.1608_1609inv (p.Arg537Trp) SDHA:c.1752_1753inv (p.Arg585Trp) SDHA:c.1552-2967_1552-2966inv SDHC:c.112C>T (p.Arg38Cys) SDHC:c.334C>T (p.Arg112Cys) SDHC:c.157C>T (p.Arg53Cys) SDHC:c.103C>T (p.Arg35Cys) SDHC:c.214C>T (p.Arg72Cys) SDHC:c.220C>T (p.His74Tyr) SDHC:c.499C>T (p.His167Tyr) SDHC:c.322C>T (p.His108Tyr) SDHC:c.316C>T (p.His106Tyr) SDHC:c.271C>T (p.His91Tyr) SDHC:c.268C>T (p.His90Tyr) SDHC:c.379C>T (p.His127Tyr) SDHC:c.242-5515C>T SDHC:c.140-5515C>T SDHC:c.77+2dup SDHC:c.20+9247dup SDHA:c.1338del SDHA:c.1194del (p.His399fs) SDHA:c.1338del (p.His447fs) SDHB:c.789del SDHB:c.789del (p.Ile263fs) TMEM127:c.512delinsGCC TMEM127:c.512delinsGCC (p.Val171fs) SDHD:c.312C>T SDHD:c.195C>T (p.His65=) SDHD:c.312C>T (p.His104=) SDHD:c.169+1036C>T SDHA:c.1273G>A SDHA:c.1129G>A (p.Val377Met) SDHA:c.1273G>A (p.Val425Met) SDHA:c.1002G>A SDHA:c.858G>A (p.Ala286=) SDHA:c.1002G>A (p.Ala334=) SDHA:c.1623G>A SDHA:c.1479G>A (p.Lys493=) SDHA:c.1623G>A (p.Lys541=) SDHA:c.1552-3330G>A SDHA:c.549C>T SDHA:c.405C>T (p.Gly135=) SDHA:c.549C>T (p.Gly183=) SDHA:c.923C>T SDHA:c.779C>T (p.Thr260Met) SDHA:c.923C>T (p.Thr308Met) SDHAF2:c.319C>T (p.Arg107Cys) SDHC:c.220C>A (p.His74Asn) SDHC:c.499C>A (p.His167Asn) SDHC:c.322C>A (p.His108Asn) SDHC:c.316C>A (p.His106Asn) SDHC:c.271C>A (p.His91Asn) SDHC:c.268C>A (p.His90Asn) SDHC:c.379C>A (p.His127Asn) SDHC:c.242-5515C>A SDHC:c.140-5515C>A SDHB:c.747delG (p.Met251Terfs) SDHB:c.801delG (p.Met269Terfs) SDHB:c.801del (p.Lys268_Met269insTer) | sanger sequencing | A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism:2013 | ||||
SDHAF2 gene SDHD gene SDHC gene SDHB gene SDHA gene | Paraganglioma Pheochromocytoma pheo-pgl syndrome | heterozygous | SDHB:c.587G>A (p.Cys196Tyr) SDHD:c.34G>A SDHD:c.34G>A (p.Gly12Ser) SDHD:c.242C>T SDHD:c.125C>T (p.Pro42Leu) SDHD:c.242C>T (p.Pro81Leu) SDHD:c.169+966C>T SDHD:c.341A>G SDHD:c.196A>G (p.Met66Val) SDHD:c.224A>G (p.Tyr75Cys) SDHD:c.*39A>G SDHD:c.341A>G (p.Tyr114Cys) SDHD:c.149A>G SDHD:c.149A>G (p.His50Arg) SDHD:c.53-914A>G SDHB:c.725G>A (p.Arg242His) SDHB:c.716_719del SDHB:c.716_719del (p.Ser239fs) SDHB:c.136C>G (p.Arg46Gly) SDHC:c.148C>T (p.Arg50Cys) SDHC:c.91C>T (p.Arg31Cys) SDHC:c.37C>T (p.Arg13Cys) SDHC:c.77+4796C>T SDHC:c.21-12128C>T SDHD:c.158C>T SDHD:c.158C>T (p.Pro53Leu) SDHD:c.53-905C>T SDHC:c.194del (p.Gly65fs) SDHC:c.194delG (p.Gly65Valfs) SDHC:c.580delG (p.Val194Leufs) SDHC:c.403delG (p.Val135Leufs) SDHC:c.397delG (p.Val133Leufs) SDHC:c.352delG (p.Val118Leufs) SDHC:c.349delG (p.Val117Leufs) SDHC:c.239delG (p.Gly80Valfs) SDHC:c.460delG (p.Val154Leufs) SDHC:c.460del (p.Val154fs) SDHB:c.724C>T (p.Arg242Cys) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.269G>A (p.Arg90Gln) SDHB:c.724C>A (p.Arg242Ser) SDHD:c.335C>T SDHD:c.190C>T (p.Leu64=) SDHD:c.218C>T (p.Thr73Ile) SDHD:c.*33C>T SDHD:c.335C>T (p.Thr112Ile) SDHB:c.650G>A (p.Arg217His) SDHB:c.238A>G (p.Lys80Glu) SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHB:c.778G>C SDHB:c.778G>C (p.Gly260Arg) SDHC:c.224A>T (p.Tyr75Phe) SDHC:c.610A>T (p.Met204Leu) SDHC:c.433A>T (p.Met145Leu) SDHC:c.427A>T (p.Met143Leu) SDHC:c.382A>T (p.Met128Leu) SDHC:c.379A>T (p.Met127Leu) SDHC:c.269A>T (p.Tyr90Phe) SDHC:c.490A>T (p.Met164Leu) SDHB:c.650G>T SDHB:c.650G>T (p.Arg217Leu) SDHD:c.317G>A SDHD:c.172G>A (p.Ala58Thr) SDHD:c.200G>A (p.Gly67Asp) SDHD:c.*15G>A SDHD:c.317G>A (p.Gly106Asp) SDHC:c.119G>A (p.Arg40Gln) SDHC:c.62G>A (p.Arg21Gln) SDHC:c.8G>A (p.Arg3Gln) SDHC:c.77+4767G>A SDHC:c.21-12157G>A SDHB:c.530G>A (p.Arg177His) SDHB:c.137G>T (p.Arg46Leu) SDHC:c.173T>C (p.Ile58Thr) SDHC:c.116T>C (p.Ile39Thr) SDHC:c.62T>C (p.Ile21Thr) SDHC:c.77+4821T>C SDHC:c.21-12103T>C | Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Human molecular genetics:2013 | |||||
PGLS gene SDHB gene | Paraganglioma Pheochromocytoma | 47 | c.423+1G>A | SDHB:c.590C>G (p.Pro197Arg) SDHB:c.725G>A (p.Arg242His) SDHB:c.423+1G>A SDHB:c.649C>T (p.Arg217Cys) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.650G>A (p.Arg217His) SDHB:c.589C>T SDHB:c.589C>T (p.Pro197Ser) | deletion | Phenotype of SDHB mutation carriers in the Netherlands. Familial cancer:2014 | |||
Renal Cell Carcinoma | 37 | SDHB:c.725G>A (p.Arg242His) SDHC:c.221A>G (p.His74Arg) SDHC:c.500A>G (p.His167Arg) SDHC:c.323A>G (p.His108Arg) SDHC:c.317A>G (p.His106Arg) SDHC:c.272A>G (p.His91Arg) SDHC:c.269A>G (p.His90Arg) SDHC:c.380A>G (p.His127Arg) SDHC:c.242-5514A>G SDHC:c.140-5514A>G SDHB:c.338G>A (p.Cys113Tyr) SDHB:c.338G>A | Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. The American journal of surgical pathology:2014 | ||||||
SDHB gene | Renal Cell Carcinoma Abnormality of mitochondrial metabolism pituitary gastrointestinal stromal parasympathetic paragangliomas phaeochromocytomas | p.Arg242His p.Pro197Arg p.Cys101Tyr c.311delA c.88delC p.Arg90Ter p.Arg27Ter | SDHB:c.268C>T (p.Arg90Ter) SDHB:c.590C>G (p.Pro197Arg) SDHB:c.725G>A (p.Arg242His) SDHB:c.716_719del SDHB:c.716_719del (p.Ser239fs) SDHB:c.79C>T (p.Arg27Ter) SDHB:c.136C>G (p.Arg46Gly) SDHB:c.380T>G (p.Ile127Ser) SDHB:c.311delinsGG (p.Asn104fs) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.88del (p.Gln30fs) SDHB:c.724C>A (p.Arg242Ser) SDHB:c.296G>A (p.Gly99Asp) SDHB:c.379A>C (p.Ile127Leu) SDHB:c.379A>G SDHB:c.379A>G (p.Ile127Val) SDHB:c.127G>C (p.Ala43Pro) SDHB:c.137G>T (p.Arg46Leu) SDHB:c.302G>A (p.Cys101Tyr) | Structural and functional consequences of succinate dehydrogenase subunit B mutations. Endocrine-related cancer:2015 | |||||
Cardiac Arrhythmia Aortic Aneurysm Marfan Syndrome Ciliary Motility Disorders hereditary mendelian diseases | 100 | BRCA2:c.3689del (p.Ser1230fs) BRCA2:c.4276dup BRCA2:c.4276dup (p.Thr1426fs) BRCA2:c.7412_7421del (p.Thr2471fs) BRCA2:c.2480dup (p.Asn827fs) MYH7:c.4588C>T (p.Arg1530Ter) MYH7:c.4588C>T SDHB:c.287-1G>C BRCA2:c.2836_2837del (p.Asp946fs) BRCA2:c.4325C>A (p.Ser1442Ter) BRCA2:c.5542del (p.Ser1848fs) BRCA2:c.6216del (p.Leu2073fs) BRCA2:c.8237_8238del (p.Thr2746fs) BRCA2:c.8754G>A (p.Glu2918=) BRCA1:c.1001_1004delCTTA (p.Tyr335Cysfs) BRCA1:c.962_965delCTTA (p.Tyr322Cysfs) BRCA1:c.959_962delCTTA (p.Tyr321Cysfs) BRCA1:c.839_842delCTTA (p.Tyr281Cysfs) BRCA1:c.4655_4658del (p.Tyr1552fs) BRCA1:c.4514_4517del (p.Tyr1505fs) BRCA1:c.1343_1346del (p.Tyr448fs) BRCA1:c.1340_1343delCTTA (p.Tyr448Cysfs) BRCA1:c.4718_4721del (p.Tyr1573fs) BRCA1:c.5154G>T (p.Trp1718Cys) BRCA1:c.4938G>T (p.Trp1646Cys) BRCA1:c.5013G>T (p.Trp1671Cys) BRCA1:c.1842G>T (p.Trp614Cys) BRCA1:c.5031G>T (p.Trp1677Cys) BRCA1:c.5217G>T (p.Trp1739Cys) BRCA1:c.1947delT (p.Tyr650Metfs) BRCA1:c.2184delT (p.Tyr729Metfs) BRCA1:c.1824delT (p.Tyr609Metfs) BRCA1:c.1440delT (p.Tyr481Metfs) BRCA1:c.2328delT (p.Tyr777Metfs) BRCA1:c.2329del (p.Tyr777fs) BRCA1:c.2188del (p.Tyr730fs) BRCA1:c.787+1542del MSH6:c.742C>T (p.Arg248Ter) MSH6:c.352C>T (p.Arg118Ter) MSH6:c.-165C>T MLH1:c.885-2A>G MLH1:c.-36-5329A>G MLH1:c.162-2A>G MLH1:c.786-2A>G MLH1:c.591-2A>G MSH2:c.2096C>G (p.Ser699Ter) MSH2:c.2096C>G MSH2:c.1898C>G (p.Ser633Ter) BRCA1:c.5277+1del BRCA1:c.5136+1del BRCA1:c.1965+1del BRCA1:c.5340+1del BRCA2:c.1642C>T (p.Gln548Ter) BRCA2:c.5578A>T (p.Lys1860Ter) BRCA2:c.9672dup (p.Tyr3225fs) ATM:c.1339C>T (p.Arg447Ter) ATM:c.1564_1565del (p.Glu522fs) ATM:c.3372C>G (p.Tyr1124Ter) TP53:c.71G>A (p.Arg24His) TP53:c.350G>A (p.Arg117His) TP53:c.-11G>A NBN:c.452_455del (p.Lys151fs) NBN:c.698_701del (p.Lys233fs) RAD51C:c.706-2A>G MUTYH:c.736G>T (p.Val246Phe) MUTYH:c.697G>T (p.Val233Phe) MUTYH:c.685G>T (p.Val229Phe) MUTYH:c.376G>T (p.Val126Phe) MUTYH:c.652G>T (p.Val218Phe) MUTYH:c.307G>T (p.Val103Phe) MUTYH:c.727G>T (p.Val243Phe) MUTYH:c.694G>T (p.Val232Phe) SDHB:c.286+2T>A MUTYH:c.650G>A (p.Arg217His) MUTYH:c.734G>A (p.Arg245His) MUTYH:c.695G>A (p.Arg232His) MUTYH:c.683G>A (p.Arg228His) MUTYH:c.374G>A (p.Arg125His) MUTYH:c.305G>A (p.Arg102His) MUTYH:c.725G>A (p.Arg242His) APC:c.965dup (p.Glu323fs) APC:c.860dup (p.Glu288fs) APC:c.851dup (p.Glu285fs) APC:c.758dup (p.Glu254fs) APC:c.86dup (p.Glu30fs) APC:c.964-302dup APC:c.859-302dup APC:c.934-302dup APC:c.757-302dup APC:c.935dupT ATM:c.283C>T (p.Gln95Ter) PMS2:c.2095_2096delinsG (p.Met699fs) PMS2:c.2344_2345delinsG (p.Met782fs) PMS2:c.2182_2183delinsG (p.Met728fs) PMS2:c.2128_2129delinsG (p.Met710fs) PMS2:c.1939_1940delinsG (p.Met647fs) PMS2:c.1567_1568delinsG (p.Met523fs) PMS2:c.1927_1928delinsG (p.Met643fs) PMS2:c.2533_2534delinsG (p.Met845fs) PMS2:c.2191_2192delinsG (p.Met731fs) MSH6:c.742del (p.Arg248fs) MSH6:c.352del (p.Arg118fs) MSH6:c.-165del MUTYH:c.49del (p.Ala17fs) MUTYH:c.91del (p.Ala31fs) MUTYH:c.-164del MUTYH:c.-223del MUTYH:c.-159del BRIP1:c.1240C>T (p.Gln414Ter) NBN:c.123del (p.Ser42fs) NBN:c.-174del ATM:c.1053dup (p.Ile352fs) PALB2:c.424A>T (p.Lys142Ter) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A ATM:c.1158del (p.Lys387fs) NBN:c.-64del NBN:c.183del (p.Asp61fs) PTEN:c.1066A>G (p.Asn356Asp) PTEN:c.1585A>G (p.Asn529Asp) PTEN:c.475A>G (p.Asn159Asp) PTEN:c.1066A>G ATM:c.1110C>G (p.Tyr370Ter) PALB2:c.2257C>T (p.Arg753Ter) MSH2:c.211G>C MSH2:c.211G>C (p.Gly71Arg) MSH2:c.13G>C (p.Gly5Arg) RAD51D:c.140_141insAA (p.Tyr47Ter) CDH1:c.1921C>T CDH1:c.1738C>T (p.Gln580Ter) CDH1:c.373C>T (p.Gln125Ter) CDH1:c.-45C>T CDH1:c.1921C>T (p.Gln641Ter) ATM:c.9047_9057delAACTGAAAGGA (p.Lys3016Serfs) ATM:c.9047_9057del (p.Lys3016fs) ATM:c.640+20528_640+20538del ATM:c.694+20528_694+20538del BRCA2:c.4821_4823delinsC (p.Glu1608fs) BRCA1:c.3986delT (p.Val1329Glyfs) BRCA1:c.3983delT (p.Val1328Glyfs) CFTR:c.1210-11T>G BRIP1:c.2255_2256del (p.Lys752fs) SDHB:c.380T>G (p.Ile127Ser) SDHB:c.166_170del (p.Pro56fs) MUTYH:c.241C>T (p.Arg81Trp) MUTYH:c.325C>T (p.Arg109Trp) MUTYH:c.286C>T (p.Arg96Trp) MUTYH:c.274C>T (p.Arg92Trp) MUTYH:c.-36C>T MUTYH:c.-31C>T MUTYH:c.316C>T (p.Arg106Trp) MSH6:c.1295T>C (p.Phe432Ser) MSH6:c.905T>C (p.Phe302Ser) MSH6:c.389T>C (p.Phe130Ser) MLH1:c.644G>C (p.Ser215Thr) MLH1:c.593G>C (p.Ser198Thr) MLH1:c.1667G>C (p.Ser556Thr) MLH1:c.1568G>C (p.Ser523Thr) NBN:c.2071-1G>C NBN:c.1825-1G>C BRCA2:c.3365del (p.Gly1122fs) CDH1:c.1999delC CDH1:c.1816del (p.Leu606fs) CDH1:c.451del (p.Leu151fs) CDH1:c.34del (p.Leu12fs) CDH1:c.1999del (p.Leu667fs) NF1:c.499_502del NF1:c.499_502del (p.Cys167fs) RAD51C:c.630T>G RAD51C:c.630T>G (p.Tyr210Ter) CHEK2:c.1140C>A (p.Tyr380Ter) CHEK2:c.348C>A (p.Tyr116Ter) CHEK2:c.810C>A (p.Tyr270Ter) CHEK2:c.1011C>A (p.Tyr337Ter) CHEK2:c.1009-1112C>A CHEK2:c.1011C>A STK11:c.580G>A (p.Asp194Asn) LMNA:c.1057C>T LMNA:c.1057C>T (p.Gln353Ter) LMNA:c.721C>T (p.Gln241Ter) LMNA:c.814C>T (p.Gln272Ter) CBS:c.1105C>T (p.Arg369Cys) CBS:c.790C>T (p.Arg264Cys) TP53:c.347G>T (p.Arg116Leu) TP53:c.626G>T (p.Arg209Leu) TP53:c.266G>T (p.Arg89Leu) TTN:c.76417_76421del (p.Lys25473fs) TTN:c.81340_81344del (p.Lys27114fs) TTN:c.54145_54149del (p.Lys18049fs) TTN:c.73636_73640del (p.Lys24546fs) TTN:c.54520_54524del (p.Lys18174fs) TTN:c.54721_54725del (p.Lys18241fs) TGFBR1:c.757A>G TGFBR1:c.526A>G (p.Met176Val) TGFBR1:c.769A>G (p.Met257Val) TGFBR1:c.757A>G (p.Met253Val) BRCA2:c.8837T>A (p.Leu2946Ter) MSH2:c.943-1G>T MSH2:c.745-1G>T DNAI1:c.389-1G>C DNAI1:c.400G>C (p.Gly134Arg) MUTYH:c.309G>A (p.Trp103Ter) MUTYH:c.393G>A (p.Trp131Ter) MUTYH:c.354G>A (p.Trp118Ter) MUTYH:c.342G>A (p.Trp114Ter) MUTYH:c.33G>A (p.Trp11Ter) MUTYH:c.384G>A (p.Trp128Ter) MUTYH:c.33+119G>A CHEK2:c.151C>T CHEK2:c.151C>T (p.Gln51Ter) CHEK2:c.-627C>T ATM:c.8505C>A (p.Cys2835Ter) ATM:c.641-36758G>T ATM:c.695-10537G>T BRCA2:c.9041C>G (p.Ser3014Ter) ATM:c.5893_5897delAAAAG (p.Lys1965Tyrfs) ATM:c.5893_5897del (p.Lys1965fs) ATM:c.641-1220_641-1216del ATM:c.*39-1220_*39-1216del BRCA2:c.8948_8953+5del BRCA1:c.1788_1789delGC (p.Pro597Leufs) BRCA1:c.1785_1786delGC (p.Pro596Leufs) BRCA1:c.1761_1762delGC (p.Pro588Leufs) BRCA1:c.1755_1756delGC (p.Pro586Leufs) BRCA1:c.1737_1738delGC (p.Pro580Leufs) CHEK2:c.216T>G CHEK2:c.216T>G (p.Tyr72Ter) CHEK2:c.-562T>G RAD50:c.1794-1G>T RAD50:c.1958C>A (p.Ser653Ter) RAD50:c.1958C>A BMPR1A:c.355C>T (p.Arg119Cys) PMS2:c.88C>T (p.Gln30Ter) PMS2:c.-128C>T PMS2:c.-318C>T PMS2:c.-797C>T PMS2:c.-397C>T PMS2:c.-52-1909C>T PMS2:c.-242-1909C>T PMS2:c.1458del (p.Ser486_Met487insTer) PMS2:c.1707del (p.Ser569_Met570insTer) PMS2:c.1545del (p.Ser515_Met516insTer) PMS2:c.1302del (p.Ser434_Met435insTer) PMS2:c.930del (p.Ser310_Met311insTer) PMS2:c.1290del (p.Ser430_Met431insTer) PMS2:c.1863del (p.Ser621_Met622insTer) PMS2:c.1554del (p.Ser518_Met519insTer) MRE11:c.1960_1979dup MRE11:c.1957_1976dup (p.Lys660fs) MRE11:c.1876_1895dup (p.Lys633fs) MRE11:c.1960_1979dup (p.Lys661fs) BRCA2:c.5159C>A (p.Ser1720Ter) BARD1:c.860_861delAG BARD1:c.860_861del (p.Glu287fs) BARD1:c.803_804del (p.Glu268fs) BARD1:c.158+28398_158+28399del BARD1:c.215+16047_215+16048del BARD1:c.364+11283_364+11284del NBN:c.2234+2T>G NBN:c.1988+2T>G NBN:c.1723G>T (p.Glu575Ter) NBN:c.1477G>T (p.Glu493Ter) BMPR1A:c.176del (p.Phe58_Leu59insTer) RAD50:c.756+2T>C DSP:c.8188delC DSP:c.6391del (p.Gln2131fs) DSP:c.6859del (p.Gln2287fs) DSP:c.8188del (p.Gln2730fs) FBN1:c.5789-2A>G FBN1:c.7939C>T (p.Gln2647Ter) STK11:c.640C>T (p.Gln214Ter) MSH2:c.870_874delACTGA MSH2:c.870_874del (p.Glu290fs) MSH2:c.672_676del (p.Glu224fs) MSH2:c.1510+1G>A MSH2:c.1312+1G>A BRIP1:c.2400C>A (p.Tyr800Ter) BRIP1:c.2400C>A MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T PMS2:c.137G>T MUTYH:c.649C>T (p.Arg217Cys) MUTYH:c.733C>T (p.Arg245Cys) MUTYH:c.694C>T (p.Arg232Cys) MUTYH:c.682C>T (p.Arg228Cys) MUTYH:c.373C>T (p.Arg125Cys) MUTYH:c.304C>T (p.Arg102Cys) MUTYH:c.724C>T (p.Arg242Cys) APC:c.147_150del (p.Lys49fs) APC:c.177_180del (p.Lys59fs) APC:c.72_75del (p.Lys24fs) APC:c.-31_-28del APC:c.-889_-886del BRCA1:c.160C>T (p.Gln54Ter) BRCA1:c.19C>T (p.Gln7Ter) BRCA1:c.192T>A (p.Cys64Ter) BRCA1:c.51T>A (p.Cys17Ter) BRCA1:c.203_204del (p.Ile68AsnfsTer12) BRCA1:c.62_63del (p.Ile21AsnfsTer12) BRCA1:c.335_338del (p.Asn112ThrfsTer6) BRCA1:c.194_197del (p.Asn65ThrfsTer6) BRCA1:c.485dup (p.Arg163GlufsTer19) BRCA1:c.344dup (p.Arg116GlufsTer19) BRCA1:c.1488del (p.Leu498SerfsTer5) BRCA1:c.1347del (p.Leu451SerfsTer5) BRCA1:c.787+701del (n.787+701del) BRCA1:c.1921dup (p.Ile641AsnfsTer2) BRCA1:c.1780dup (p.Ile594AsnfsTer2) BRCA1:c.787+1134dup (n.787+1134dup) BRCA1:c.2017G>T (p.Glu673Ter) BRCA1:c.1876G>T (p.Glu626Ter) BRCA1:c.787+1230G>T (n.787+1230G>T) BRCA1:c.2056G>T (p.Glu686Ter) BRCA1:c.1915G>T (p.Glu639Ter) BRCA1:c.787+1269G>T (n.787+1269G>T) BRCA1:c.2131_2132del (p.Lys711ValfsTer6) BRCA1:c.1990_1991del (p.Lys664ValfsTer6) BRCA1:c.787+1344_787+1345del (n.787+1344_787+1345del) BRCA1:c.2329del (p.Tyr777MetfsTer15) BRCA1:c.2188del (p.Tyr730MetfsTer15) BRCA1:c.787+1542del (n.787+1542del) BRCA1:c.2545G>T (p.Glu849Ter) BRCA1:c.2404G>T (p.Glu802Ter) BRCA1:c.787+1758G>T (n.787+1758G>T) BRCA1:c.2593A>T (p.Lys865Ter) BRCA1:c.2452A>T (p.Lys818Ter) BRCA1:c.787+1806A>T (n.787+1806A>T) BRCA1:c.2621del (p.Asn874IlefsTer19) BRCA1:c.2480del (p.Asn827IlefsTer19) BRCA1:c.787+1834del (n.787+1834del) BRCA1:c.2706_2707dup (p.Cys903TyrfsTer?) BRCA1:c.2565_2566dup (p.Cys856TyrfsTer?) BRCA1:c.788-1793_788-1792dup (n.788-1793_788-1792dup) BRCA1:c.2940del (p.Pro981HisfsTer19) BRCA1:c.2799del (p.Pro934HisfsTer19) BRCA1:c.788-1559del (n.788-1559del) BRCA1:c.3044dup (p.Asn1016LysfsTer2) BRCA1:c.2903dup (p.Asn969LysfsTer2) BRCA1:c.788-1455dup (n.788-1455dup) BRCA1:c.3579_3580insT (p.Thr1194TyrfsTer25) BRCA1:c.3438_3439insT (p.Thr1147TyrfsTer25) BRCA1:c.788-920_788-919insT (n.788-920_788-919insT) BRCA1:c.3672del (p.Cys1225AlafsTer10) BRCA1:c.3531del (p.Cys1178AlafsTer10) BRCA1:c.788-827del (n.788-827del) BRCA1:c.3761_3762insTT (p.Lys1254AsnfsTer2) BRCA1:c.3620_3621insTT (p.Lys1207AsnfsTer2) BRCA1:c.788-738_788-737insTT (n.788-738_788-737insTT) BRCA1:c.3874del (p.Ser1292LeufsTer15) BRCA1:c.3733del (p.Ser1245LeufsTer15) BRCA1:c.788-625del (n.788-625del) BRCA1:c.3969_3970del (p.Gln1323HisfsTer6) BRCA1:c.3828_3829del (p.Gln1276HisfsTer6) BRCA1:c.788-530_788-529del (n.788-530_788-529del) BRCA1:c.4015G>T (p.Glu1339Ter) BRCA1:c.3874G>T (p.Glu1292Ter) BRCA1:c.788-484G>T (n.788-484G>T) BRCA1:c.4250del (p.Val1417GlyfsTer2) BRCA1:c.4109del (p.Val1370GlyfsTer2) BRCA1:c.941del (p.Val314GlyfsTer2) BRCA1:c.4389C>G (p.Tyr1463Ter) BRCA1:c.4248C>G (p.Tyr1416Ter) BRCA1:c.1077C>G (p.Tyr359Ter) BRCA1:c.4452C>G (p.Tyr1484Ter) BRCA1:c.4401del (p.Asn1468IlefsTer?) BRCA1:c.4260del (p.Asn1421IlefsTer?) BRCA1:c.1089del (p.Asn364IlefsTer?) BRCA1:c.4464del (p.Asn1489IlefsTer?) BRCA1:c.4655dup (p.Tyr1552Ter) BRCA1:c.4514dup (p.Tyr1505Ter) BRCA1:c.1343dup (p.Tyr448Ter) BRCA1:c.4718dup (p.Tyr1573Ter) BRCA1:c.4655_4658del (p.Tyr1552CysfsTer6) BRCA1:c.4514_4517del (p.Tyr1505CysfsTer6) BRCA1:c.1343_1346del (p.Tyr448CysfsTer6) BRCA1:c.4718_4721del (p.Tyr1573CysfsTer6) BRCA1:c.4675+1G>T (n.4675+1G>T) BRCA1:c.4534+1G>T (n.4534+1G>T) BRCA1:c.1363+1G>T (n.1363+1G>T) BRCA1:c.4738+1G>T (n.4738+1G>T) BRCA1:c.4799dup (p.Leu1600PhefsTer22) BRCA1:c.4658dup (p.Leu1553PhefsTer22) BRCA1:c.1487dup (p.Leu496PhefsTer22) BRCA1:c.4862dup (p.Leu1621PhefsTer22) BRCA1:c.4834C>T (p.Gln1612Ter) BRCA1:c.4693C>T (p.Gln1565Ter) BRCA1:c.1522C>T (p.Gln508Ter) BRCA1:c.4897C>T (p.Gln1633Ter) BRCA1:c.5269_5273del (p.Asp1757LysfsTer?) BRCA1:c.5128_5132del (p.Asp1710LysfsTer?) BRCA1:c.1957_1961del (p.Asp653LysfsTer?) BRCA1:c.5332_5336del (p.Asp1778LysfsTer?) BRCA1:c.5310_5311del (p.Pro1771LeufsTer?) BRCA1:c.5169_5170del (p.Pro1724LeufsTer?) BRCA1:c.1998_1999del (p.Pro667LeufsTer?) BRCA1:c.5373_5374del (p.Pro1792LeufsTer?) BRCA1:c.5467+2T>C (n.5467+2T>C) BRCA1:c.5326+2T>C (n.5326+2T>C) BRCA1:c.2155+2T>C (n.2155+2T>C) BRCA1:c.2081+2T>C (n.2081+2T>C) BRCA1:c.5530+2T>C (n.5530+2T>C) BRCA2:c.316+2T>C (n.316+2T>C) BRCA2:c.425+1G>A (n.425+1G>A) BRCA2:c.429del (p.Val144LeufsTer8) BRCA2:c.476-4_476-1delinsT (n.476-4_476-1delinsT) BRCA2:c.593_596delinsAGG (p.Leu198Ter) BRCA2:c.1428_1431del (p.His477GlnfsTer7) BRCA2:c.1447dup (p.Ala483GlyfsTer?) BRCA2:c.1552del (p.Ala518GlnfsTer7) BRCA2:c.2480dup (p.Asn827LysfsTer3) BRCA2:c.2517C>A (p.Tyr839Ter) BRCA2:c.2818C>T (p.Gln940Ter) BRCA2:c.2918C>A (p.Ser973Ter) BRCA2:c.3009_3010del (p.His1003GlnfsTer5) BRCA2:c.3176_3177del (p.Leu1059GlnfsTer7) BRCA2:c.3296C>A (p.Ser1099Ter) BRCA2:c.3319C>T (p.Gln1107Ter) BRCA2:c.3351del (p.Leu1118Ter) BRCA2:c.3358del (p.Glu1120AsnfsTer30) BRCA2:c.3362C>A (p.Ser1121Ter) BRCA2:c.3365del (p.Gly1122GlufsTer28) BRCA2:c.3411dup (p.Gln1138AlafsTer6) BRCA2:c.3412C>T (p.Gln1138Ter) NF1:c.3721C>T (p.Arg1241Ter) PALB2:c.2962C>T (p.Gln988Ter) ATM:c.103C>T (p.Arg35Ter) ATM:c.7875_7876delinsGC ATM:c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) ATM:c.641-23778_641-23777delinsGC ATM:c.*38+2371_*38+2372delinsGC MUTYH:c.228C>A (p.Tyr76Ter) MUTYH:c.312C>A (p.Tyr104Ter) MUTYH:c.273C>A (p.Tyr91Ter) MUTYH:c.261C>A (p.Tyr87Ter) MUTYH:c.-49C>A MUTYH:c.-44C>A MUTYH:c.303C>A (p.Tyr101Ter) MRE11:c.1714C>T (p.Arg572Ter) MAX:c.196C>T (p.Arg66Ter) MAX:c.-145C>T MAX:c.223C>T (p.Arg75Ter) MAX:c.144+15723C>T MAX:c.171+15723C>T MITF:c.1099G>A (p.Glu367Lys) MITF:c.1273G>A (p.Glu425Lys) MITF:c.1270G>A (p.Glu424Lys) MITF:c.1252G>A (p.Glu418Lys) MITF:c.1204G>A (p.Glu402Lys) MITF:c.934G>A (p.Glu312Lys) MITF:c.1255G>A (p.Glu419Lys) MITF:c.1207G>A (p.Glu403Lys) MITF:c.766G>A (p.Glu256Lys) BRCA1:c.1819A>T (p.Lys607Ter) BRCA1:c.2325_2326dup (p.Cys776Tyrfs) BRCA1:c.2562_2563dup (p.Cys855Tyrfs) BRCA1:c.2202_2203dup (p.Cys735Tyrfs) BRCA1:c.1818_1819dup (p.Cys607Tyrfs) BRCA1:c.2706_2707dup (p.Cys903Tyrfs) BRCA1:c.2706_2707dup (p.Cys903fs) BRCA1:c.2565_2566dup (p.Cys856fs) BRCA1:c.788-1793_788-1792dup BRCA1:c.5194-2A>G BRCA1:c.5053-2A>G BRCA1:c.1882-2A>G BRCA1:c.5257-2A>G BRCA2:c.3160_3163del (p.Asp1054fs) BRCA2:c.3689del (p.Ser1230LeufsTer9) BRCA2:c.4246C>T (p.Gln1416Ter) BRCA2:c.4552del (p.Glu1518AsnfsTer25) BRCA2:c.4821_4823delinsC (p.Glu1608AspfsTer6) BRCA2:c.5171_5172dup (p.Ala1725Ter) BRCA2:c.5353del (p.Thr1785LeufsTer6) BRCA2:c.5362dup (p.Ser1788PhefsTer19) BRCA2:c.5386_5387del (p.Asp1796CysfsTer10) BRCA2:c.5422_5423del (p.Ile1808LeufsTer3) BRCA2:c.5470_5471del (p.Asn1824CysfsTer4) BRCA2:c.5557del (p.Cys1853ValfsTer10) BRCA2:c.5682C>A (p.Tyr1894Ter) BRCA2:c.5715dup (p.Asn1906Ter) BRCA2:c.5763del (p.Phe1921LeufsTer?) BRCA2:c.6216del (p.Leu2073TyrfsTer8) BRCA2:c.6226_6229del (p.Val2076ArgfsTer4) BRCA2:c.6308C>G (p.Ser2103Ter) BRCA2:c.6331_6332del (p.Lys2111GlufsTer17) BRCA2:c.6349dup (p.Cys2117LeufsTer12) BRCA2:c.6702del (p.Phe2234LeufsTer7) BRCA2:c.6703_6704del (p.Met2235GlyfsTer3) BRCA2:c.6816_6820del (p.Gly2274AlafsTer17) BRCA2:c.7412_7421del (p.Thr2471LysfsTer5) BRCA2:c.7689del (p.His2563GlnfsTer?) BRCA2:c.7777G>T (p.Gly2593Ter) BRCA2:c.7855dup (p.Trp2619LeufsTer4) BRCA2:c.8237_8238del (p.Thr2746SerfsTer17) BRCA2:c.8332-2A>G BRCA2:c.8505del (p.Ser2836LeufsTer27) BRCA2:c.8581A>T (p.Arg2861Ter) BRCA2:c.8608C>T (p.Gln2870Ter) BRCA2:c.8770G>T (p.Glu2924Ter) BRCA2:c.8773C>T (p.Gln2925Ter) BRCA2:c.8996dup (p.Leu3000ValfsTer18) BRCA2:c.9054_9055del (p.Ser3018ArgfsTer3) BRCA2:c.9127G>T (p.Glu3043Ter) BRCA2:c.9194_9195del (p.Phe3065SerfsTer6) BRCA2:c.9256_9256+1delinsTA BRCA2:c.9502-2A>C (n.9502-2A>C) BRCA2:c.9770_9773del (p.Lys3257ArgfsTer17) | nucleaotide-sequencing | Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. PloS one:2017 | |||||
SDHB gene | Paraganglioma Pheochromocytoma Gastrointestinal Stromal Tumors Renal Cell Carcinoma pituitary neoplasia non-paraganglionic tumors head and neck paragangliomas sympathetic paragangliomas | 194 | SDHB:c.725G>A (p.Arg242His) SDHB:c.649C>T (p.Arg217Cys) SDHB:c.343C>T (p.Arg115Ter) SDHB:c.713del (p.Phe238fs) SDHB:c.120G>C (p.Lys40Asn) SDHB:c.293G>A (p.Cys98Tyr) SDHB:c.729C>G (p.Cys243Trp) | deletion | The phenotype of SDHB germline mutation carriers: a nationwide study. European journal of endocrinology:2017 | ||||
SDHD gene SDHB gene | Paraganglioma Pheochromocytoma neck paraganglioma | 4 | heterozygous | p.Gly106Asp p.Arg242His c.IVS2-2A>C | SDHD:c.172G>T (p.Ala58Ser) SDHD:c.200G>T (p.Gly67Val) SDHD:c.*15G>T SDHD:c.317G>T (p.Gly106Val) SDHD:c.317G>T SDHD:c.317G>A SDHD:c.172G>A (p.Ala58Thr) SDHD:c.200G>A (p.Gly67Asp) SDHD:c.*15G>A SDHD:c.317G>A (p.Gly106Asp) SDHB:c.725G>A (p.Arg242His) | frameshift exon skipping missense mutation | A Novel SDHB IVS2-2A>C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome. The Tohoku journal of experimental medicine:2018 | ||
SDHB gene | Pheochromocytoma head and neck paraganglioma hereditary paraganglioma (pgl) syndrome type 4 | SDHB:c.590C>G (p.Pro197Arg) SDHB:c.725G>A (p.Arg242His) SDHB:c.418G>T (p.Val140Phe) SDHB:c.649C>T (p.Arg217Cys) SDHB:c.137G>A (p.Arg46Gln) SDHB:c.379A>C (p.Ile127Leu) SDHB:c.761C>T (p.Pro254Leu) SDHB:c.120G>C (p.Lys40Asn) SDHB:c.293G>A (p.Cys98Tyr) | Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations. BJS open:2018 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Patient's Ethnicity | History | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|---|---|
APC gene | Colorectal Carcinoma hnpcc non-polyposis colorectal cancer | canadian | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) MLH1:c.1470del (p.Ala491fs) MLH1:c.741del (p.Ala248fs) MLH1:c.690del (p.Ala231fs) MLH1:c.1764del (p.Ala589fs) MLH1:c.1665del (p.Ala556fs) MLH1:c.1732-966del APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. Clinical genetics:1998 | ||||
APC gene | Colorectal Carcinoma tel-aviv colorectal neoplasia | israeli | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | polymerase chain reaction | The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. European journal of cancer (Oxford, England : 1990):2013 | |||
APC gene | Colonic Polyps melanoma Stomach Carcinoma Breast Carcinoma Colon Carcinoma Colorectal Carcinoma adenomatous polyps cancer colonic neoplasia | 45 | male | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The I1307K APC mutation in a high-risk clinic setting: a follow-up study. Clinical genetics:2005 | |||
APC gene | Adenoma of large intestine Colorectal Neoplasms Carcinoma polyposis colorectal classical familial adenomatous polyposis | p.Glu1317Gln p.Ile1307Lys | APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proceedings of the National Academy of Sciences of the United States of America:1998 | |||||
GREM1 gene APC gene | Colorectal Carcinoma Colon Carcinoma Carcinoma Adenoma of large intestine ashkenazi | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. Gastroenterology:1999 | |||||
APC gene | Colorectal Carcinoma familial colorectal cancer | Malignant tumor of colon | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | I1307K Mutation Detection by Allele-Specific PCR in Familial Colorectal Cancer. Methods in molecular medicine:2001 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
APC gene | Colorectal Carcinoma hereditary nonpolyposis colorectal cancer | 131600 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Public health perspectives on testing for colorectal cancer susceptibility genes. American journal of preventive medicine:1999 | |||||
BRCA2 gene BRCA1 gene APC gene | Malignant neoplasm of ovary Colon Carcinoma Colorectal Carcinoma breast and breast-ovarian cancer breast and breast-ovarian cancer syndrome | 264 | 158 | c.6174delT c.5382insC c.185delAG p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. Cancer research:1997 | ||||
APC gene | Colorectal Carcinoma Adenomatous Polyposis Coli multiple intestinal polyps | 5081 | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | autosomal dominant | The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nature genetics:1998 | ||||
APC gene | Colorectal Carcinoma adenomatous colorectal neoplasia | 1370 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | polymerase chain reaction | The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2003 | ||||
APC gene | Colorectal Carcinoma | p.Ile1307Lys p.Glu1317Gln | APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The APC E1317Q and I1307K polymorphisms in non-colorectal cancers. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie:2007 | ||||||
APC gene | Colorectal Carcinoma Adenomatous Polyposis Coli Colorectal Neoplasms adenoma formation colorectal neoplasia adenomatous polyps colorectal | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. American journal of human genetics:1999 | ||||||
TP53 gene DCC gene CTNNB1 gene CDH1 gene APC gene | Colon Carcinoma Colorectal Carcinoma | 52 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. Digestive diseases and sciences:2003 | |||||
MLH1 gene MSH2 gene APC gene | Colorectal Carcinoma hereditary non-polyposis colorectal cancer | 25 | 24 | p.Asp601Gly p.Asn127Ser p.Ile1307Lys | MLH1:c.1508A>G (p.Asp503Gly) MLH1:c.779A>G (p.Asp260Gly) MLH1:c.728A>G (p.Asp243Gly) MLH1:c.1802A>G (p.Asp601Gly) MLH1:c.1703A>G (p.Asp568Gly) MLH1:c.1732-928A>G MSH2:c.380A>G MSH2:c.380A>G (p.Asn127Ser) MSH2:c.182A>G (p.Asn61Ser) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | denaturing gradient gel electrophoresis Electrophoresis nucleaotide-sequencing | missense mutation | Genetic analysis of familial colorectal cancer in Israeli Arabs. Human mutation:2003 | ||
APC gene | Carcinoma Colon Carcinoma Adenoma Colorectal Carcinoma adenoma adenomatous polyps | 3540 | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology:2001 | |||||
APC gene | Colorectal Carcinoma hereditary non-polyposis colorectal cancer | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) MLH1:c.1470del (p.Ala491fs) MLH1:c.741del (p.Ala248fs) MLH1:c.690del (p.Ala231fs) MLH1:c.1764del (p.Ala589fs) MLH1:c.1665del (p.Ala556fs) MLH1:c.1732-966del APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | premature stop | I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. Clinical genetics:1998 | |||||
APC gene | Breast Carcinoma Colorectal Carcinoma breast-cancer | 205 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | nucleaotide-sequencing polymerase chain reaction single-strand conformation polymorphism | The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of breast cancer. British journal of cancer:1999 | ||||
EMD gene APC gene | Colorectal Carcinoma Adenomatous Polyposis Coli | 75 | p.Glu1317Gln p.Ile1307Lys | APC:c.2835C>A (p.Tyr945Ter) APC:c.2730C>A (p.Tyr910Ter) APC:c.2721C>A (p.Tyr907Ter) APC:c.2682C>A (p.Tyr894Ter) APC:c.2628C>A (p.Tyr876Ter) APC:c.2532C>A (p.Tyr844Ter) APC:c.2502C>A (p.Tyr834Ter) APC:c.2427C>A (p.Tyr809Ter) APC:c.2325C>A (p.Tyr775Ter) APC:c.1956C>A (p.Tyr652Ter) APC:c.2751C>A APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.1549C>T (p.Arg517Ter) APC:c.1525C>T (p.Arg509Ter) APC:c.1420C>T (p.Arg474Ter) APC:c.1411C>T (p.Arg471Ter) APC:c.1372C>T (p.Arg458Ter) APC:c.1318C>T (p.Arg440Ter) APC:c.1222C>T (p.Arg408Ter) APC:c.1192C>T (p.Arg398Ter) APC:c.1117C>T (p.Arg373Ter) APC:c.1015C>T (p.Arg339Ter) APC:c.646C>T (p.Arg216Ter) APC:c.724C>T (p.Arg242Ter) APC:c.619C>T (p.Arg207Ter) APC:c.517C>T (p.Arg173Ter) APC:c.694C>T (p.Arg232Ter) APC:c.-342C>T APC:c.676-8785C>T APC:c.646-8785C>T APC:c.2859C>T (p.Tyr953=) APC:c.2835C>T (p.Tyr945=) APC:c.2730C>T (p.Tyr910=) APC:c.2721C>T (p.Tyr907=) APC:c.2682C>T (p.Tyr894=) APC:c.2628C>T (p.Tyr876=) APC:c.2532C>T (p.Tyr844=) APC:c.2502C>T (p.Tyr834=) APC:c.2427C>T (p.Tyr809=) APC:c.2325C>T (p.Tyr775=) APC:c.1956C>T (p.Tyr652=) APC:c.3577C>T (p.Gln1193Ter) APC:c.3553C>T (p.Gln1185Ter) APC:c.3448C>T (p.Gln1150Ter) APC:c.3439C>T (p.Gln1147Ter) APC:c.3400C>T (p.Gln1134Ter) APC:c.3346C>T (p.Gln1116Ter) APC:c.3250C>T (p.Gln1084Ter) APC:c.3220C>T (p.Gln1074Ter) APC:c.3145C>T (p.Gln1049Ter) APC:c.3043C>T (p.Gln1015Ter) APC:c.2674C>T (p.Gln892Ter) APC:c.3635C>A (p.Ser1212Ter) APC:c.3611C>A (p.Ser1204Ter) APC:c.3506C>A (p.Ser1169Ter) APC:c.3497C>A (p.Ser1166Ter) APC:c.3458C>A (p.Ser1153Ter) APC:c.3404C>A (p.Ser1135Ter) APC:c.3308C>A (p.Ser1103Ter) APC:c.3278C>A (p.Ser1093Ter) APC:c.3203C>A (p.Ser1068Ter) APC:c.3101C>A (p.Ser1034Ter) APC:c.2732C>A (p.Ser911Ter) APC:c.3650dup (p.Ser1218fs) APC:c.3626dup (p.Ser1210fs) APC:c.3521dup (p.Ser1175fs) APC:c.3512dup (p.Ser1172fs) APC:c.3473dup (p.Ser1159fs) APC:c.3419dup (p.Ser1141fs) APC:c.3323dup (p.Ser1109fs) APC:c.3293dup (p.Ser1099fs) APC:c.3218dup (p.Ser1074fs) APC:c.3116dup (p.Ser1040fs) APC:c.2747dup (p.Ser917fs) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | premature stop missense mutation | Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). European journal of human genetics : EJHG:2002 | ||||
APC gene CD24 gene | Pancreatic carcinoma Pancreatic Ductal Adenocarcinoma | 73 | heterozygous | p.Ala1056Gly p.Ala1626Gly p.Cys170Thr p.Glu1317Gln p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | CD24 and APC Genetic Polymorphisms in Pancreatic Cancers as Potential Biomarkers for Clinical Outcome. PloS one:2015 | ||||
APC gene | Colorectal Carcinoma hereditary non-polyposis colorectal cancer | 194 | p.Glu1317Gln p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | APC I1307K and E1317Q variants are rare or do not occur in Swedish colorectal cancer patients. European journal of cancer (Oxford, England : 1990):2001 | |||||
TP53 gene STK11 gene SMAD4 gene PTEN gene PMS2 gene MUTYH gene MSH6 gene MSH2 gene MLH1 gene EPCAM gene CHEK2 gene CDH1 gene APC gene | Malignant neoplasm of appendix lynch syndrome | c.263287dup p.Ile157Thr c.470T>C p.Ile1307Lys c.3920T>A | TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C MSH2:c.668T>C (p.Leu223Pro) MSH2:c.668T>C MSH2:c.470T>C (p.Leu157Pro) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) CDH1:c.470T>C CDH1:c.470T>C (p.Val157Ala) CDH1:c.-1146T>C CDH1:c.-1350T>C | nucleaotide-sequencing | Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology:2022 | |||||
MUTYH gene APC gene CHEK2 gene | Colorectal Carcinoma | heterozygous | c.1100delC p.Ile1307Lys c.3920T>A p.Ile157Thr c.470T>C p.Thr367fs | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.3920T>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genetics in medicine : official journal of the American College of Medical Genetics:2022 | |||||
KRAS gene MSH2 gene BLM gene APC gene | Colorectal Carcinoma Colorectal Neoplasms | heterozygous | c.*1906G>C p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | nucleaotide-sequencing | Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. Cancer:2005 | ||||
APC gene | Colorectal Neoplasms colorectal neoplasia | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Somatic instability of the APC I1307K allele in colorectal neoplasia. Cancer research:1998 | ||||||
APC gene | Colon Carcinoma Colorectal Carcinoma | 256 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Response to genetic counseling and testing for the APC I1307K mutation. American journal of medical genetics:2000 | |||||
APC gene | Colorectal Neoplasms colorectal neoplasia | 182 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium. The Journal of pathology:2003 | |||||
APC gene | Colorectal Carcinoma | 111 | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Adenomatous polyposis coli I1307K mutation in Jewish patients with different ethnicity: prevalence and phenotype. Cancer:2000 | |||||
APC gene | colorectal neoplasia | 13013 | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The APC I1307K allele conveys a significant increased risk for cancer. International journal of cancer:2016 | |||||
APC gene | Colorectal Carcinoma | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim. American journal of human genetics:2003 | ||||||
APC gene BRCA2 gene BRCA1 gene | Breast Carcinoma Tay-Sachs Disease | 1200 | p.Ile1307Lys c.6174delT c.5382insC c.185delAG | BRCA2:c.5946del (p.Ser1982fs) BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | polymerase chain reaction | The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer:2001 | ||||
APC gene | Malignant neoplasm of ovary Breast Carcinoma Colorectal Carcinoma breast and/ | 210 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | polymerase chain reaction nucleaotide-sequencing | The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer. Cancer research:1998 | ||||
APC gene | Colorectal Carcinoma Adenoma Stomach Carcinoma Adenomatous Polyposis Coli Colorectal Neoplasms adenoma colorectal neoplasia colorectal carcinogenesis | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. Cancer genetics and cytogenetics:2007 | ||||||
APC gene | Adenomatous Polyposis Coli Colorectal Carcinoma hereditary nonpolyposis colorectal cancer | 91 | p.Ile1307Lys c.8636C>A p.Asp1822Val p.Glu1317Gln | APC:c.3416T>C (p.Leu1139Ser) APC:c.3311T>C (p.Leu1104Ser) APC:c.3302T>C (p.Leu1101Ser) APC:c.3263T>C (p.Leu1088Ser) APC:c.3209T>C (p.Leu1070Ser) APC:c.3113T>C (p.Leu1038Ser) APC:c.3083T>C (p.Leu1028Ser) APC:c.3008T>C (p.Leu1003Ser) APC:c.2906T>C (p.Leu969Ser) APC:c.2537T>C (p.Leu846Ser) APC:c.3386T>C APC:c.3406A>G (p.Asn1136Asp) APC:c.3382A>G (p.Asn1128Asp) APC:c.3277A>G (p.Asn1093Asp) APC:c.3268A>G (p.Asn1090Asp) APC:c.3229A>G (p.Asn1077Asp) APC:c.3175A>G (p.Asn1059Asp) APC:c.3079A>G (p.Asn1027Asp) APC:c.3049A>G (p.Asn1017Asp) APC:c.2974A>G (p.Asn992Asp) APC:c.2872A>G (p.Asn958Asp) APC:c.2503A>G (p.Asn835Asp) APC:c.7255C>T (p.Leu2419=) APC:c.7231C>T (p.Leu2411=) APC:c.7126C>T (p.Leu2376=) APC:c.7117C>T (p.Leu2373=) APC:c.7078C>T (p.Leu2360=) APC:c.7024C>T (p.Leu2342=) APC:c.6928C>T (p.Leu2310=) APC:c.6898C>T (p.Leu2300=) APC:c.6823C>T (p.Leu2275=) APC:c.6721C>T (p.Leu2241=) APC:c.6352C>T (p.Leu2118=) APC:c.7544G>A (p.Arg2515Gln) APC:c.7439G>A (p.Arg2480Gln) APC:c.7430G>A (p.Arg2477Gln) APC:c.7391G>A (p.Arg2464Gln) APC:c.7337G>A (p.Arg2446Gln) APC:c.7241G>A (p.Arg2414Gln) APC:c.7211G>A (p.Arg2404Gln) APC:c.7136G>A (p.Arg2379Gln) APC:c.7034G>A (p.Arg2345Gln) APC:c.6665G>A (p.Arg2222Gln) APC:c.7514G>A APC:c.5194G>A (p.Asp1732Asn) APC:c.5170G>A (p.Asp1724Asn) APC:c.5065G>A (p.Asp1689Asn) APC:c.5056G>A (p.Asp1686Asn) APC:c.5017G>A (p.Asp1673Asn) APC:c.4963G>A (p.Asp1655Asn) APC:c.4867G>A (p.Asp1623Asn) APC:c.4837G>A (p.Asp1613Asn) APC:c.4762G>A (p.Asp1588Asn) APC:c.4660G>A (p.Asp1554Asn) APC:c.4291G>A (p.Asp1431Asn) APC:c.751G>A (p.Glu251Lys) APC:c.646G>A (p.Glu216Lys) APC:c.544G>A (p.Glu182Lys) APC:c.721G>A (p.Glu241Lys) APC:c.-315G>A APC:c.676-8758G>A APC:c.646-8758G>A APC:c.8122G>A (p.Ala2708Thr) APC:c.8098G>A (p.Ala2700Thr) APC:c.7993G>A (p.Ala2665Thr) APC:c.7984G>A (p.Ala2662Thr) APC:c.7945G>A (p.Ala2649Thr) APC:c.7891G>A (p.Ala2631Thr) APC:c.7795G>A (p.Ala2599Thr) APC:c.7765G>A (p.Ala2589Thr) APC:c.7690G>A (p.Ala2564Thr) APC:c.7588G>A (p.Ala2530Thr) APC:c.7219G>A (p.Ala2407Thr) APC:c.2247C>T (p.Asp749=) APC:c.2238C>T (p.Asp746=) APC:c.2199C>T (p.Asp733=) APC:c.2145C>T (p.Asp715=) APC:c.2049C>T (p.Asp683=) APC:c.2019C>T (p.Asp673=) APC:c.1944C>T (p.Asp648=) APC:c.1842C>T (p.Asp614=) APC:c.1473C>T (p.Asp491=) APC:c.2322C>T APC:c.5268T>A (p.Ser1756=) APC:c.5214T>A (p.Ser1738=) APC:c.5322T>A (p.Ser1774=) APC:c.5298T>A (p.Ser1766=) APC:c.5193T>A (p.Ser1731=) APC:c.5184T>A (p.Ser1728=) APC:c.5145T>A (p.Ser1715=) APC:c.5091T>A (p.Ser1697=) APC:c.4995T>A (p.Ser1665=) APC:c.4965T>A (p.Ser1655=) APC:c.7074C>T (p.Asn2358=) APC:c.7050C>T (p.Asn2350=) APC:c.6945C>T (p.Asn2315=) APC:c.6936C>T (p.Asn2312=) APC:c.6897C>T (p.Asn2299=) APC:c.6843C>T (p.Asn2281=) APC:c.6747C>T (p.Asn2249=) APC:c.6717C>T (p.Asn2239=) APC:c.6642C>T (p.Asn2214=) APC:c.6540C>T (p.Asn2180=) APC:c.6171C>T (p.Asn2057=) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) | nonsense mutation | Definition of candidate low risk APC alleles in a Swedish population. International journal of cancer:2004 | ||||
APC gene | Colorectal Carcinoma | 215 | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | polymerase chain reaction | The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features. Cancer genetics and cytogenetics:2006 | ||||
TP53 gene PMS2 gene PMS1 gene MSH6 gene MSH2 gene MLH1 gene APC gene | Adenomatous Polyposis Coli lynch syndrome hereditary non-polyposis colorectal cancer familial colorectal cancer | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Genetic susceptibility to non-polyposis colorectal cancer. Journal of medical genetics:1999 | ||||||
APC gene | Hyperplastic Polyp Polyp of large intestine Adenoma of large intestine Colorectal Carcinoma adenomatous polyps | 231 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. JAMA:2000 | |||||
APC gene | Colorectal Carcinoma adenomatous polyps hereditary nonpolyposis colon cancer | 538 | p.Glu13117Gln c.324delCA p.Ala636Pro p.Ile1307Lys p.Glu1317Gln | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) | missense mutation | Genetic analyses in consecutive israeli jewish colorectal cancer patients. The American journal of gastroenterology:2005 | ||||
APC gene | Colorectal Carcinoma | 120 | p.Glu1317Gln p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3774T>A (p.Ser1258Arg) APC:c.3720T>A (p.Ser1240Arg) APC:c.3636T>A (p.Ser1212Arg) APC:c.3174T>A (p.Ser1058Arg) APC:c.2871T>A (p.Ser957Arg) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects. Familial cancer:2016 | |||||
APC gene | Colorectal Carcinoma | 307 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. British journal of cancer:2001 | |||||
APC gene | Crohn Disease Colorectal Carcinoma adenomatous polyps chronic inflammatory bowel disease | 306 | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin. Human genetics:2001 | |||||
APC gene | Colorectal Carcinoma Carcinoma neoplasia noncolorectal neoplasia familial neoplasia colorectal neoplasia | p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect. Cancer:2002 | ||||||
APC gene | Colorectal Carcinoma sporadic colorectal cancer | 48 | p.Asp1822Val p.Glu1317Gln p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | nucleaotide-sequencing | No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer. Pathologie-biologie:2009 | ||||
APC gene | Malignant neoplasm of kidney Malignant neoplasm of prostate melanoma Colorectal Carcinoma | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers. Cancers:2022 | ||||||
MUTYH gene APC gene | Adenoma of large intestine Colorectal Carcinoma colorectal | 7225 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals. Familial cancer:2021 | |||||
APC gene | Colorectal Carcinoma Malignant neoplasm of prostate | 75 | 27 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | APC I1307K and the risk of prostate cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2006 | ||||
APC gene | melanoma Stomach Carcinoma Breast Carcinoma Colon Carcinoma Colorectal Carcinoma adenomatous polyps colonic neoplasia | 51 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | The I1307K APC mutation in a high-risk clinic setting: a follow-up study. Clinical genetics:2005 | |||||
APC gene | Gallbladder adenocarcinoma Uveal melanoma Breast Carcinoma Polyp of large intestine melanoma Pancreatic carcinoma Colon Carcinoma Colorectal Carcinoma prostate adenomatous polyposis syndrome | 4 | heterozygous homozygous | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | Homozygous Germline APC p.I1307K Variants: A Case Series. Case reports in oncology:2021 | ||||
APC gene | Colorectal Carcinoma Colorectal Neoplasms Adenoma Adenoma of large intestine Carcinoma classical familial adenomatous polyposis | 164 | p.Glu1317Gln p.Ile1307Lys | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3920T>A APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | autosomal dominant | The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proceedings of the National Academy of Sciences of the United States of America:1998 | ||||
APC gene | Colorectal Carcinoma Carcinoma Adenoma of large intestine | 147 | p.Glu1317Gln p.Ile1307Lys | APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients. Genetics in medicine : official journal of the American College of Medical Genetics:2004 | |||||
APC gene | Malignant neoplasm of ovary Colorectal Carcinoma Adenomatous Polyposis Coli epithelial ovarian carcinoma | 190 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. Cancer research:1998 | |||||
APC gene | Colon Carcinoma Colorectal Carcinoma Adenomatous Polyposis Coli | 59 | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | nonsense mutation frameshift missense mutation | APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation. The International journal of biological markers:2012 | ||||
DCC gene NME1 gene TP53 gene APC gene MCC gene | Colorectal Carcinoma | 73 | heterozygous | p.Ile1307Lys p.Glu1317Gln | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.4003G>C (p.Glu1335Gln) APC:c.3979G>C (p.Glu1327Gln) APC:c.3874G>C (p.Glu1292Gln) APC:c.3865G>C (p.Glu1289Gln) APC:c.3826G>C (p.Glu1276Gln) APC:c.3772G>C (p.Glu1258Gln) APC:c.3676G>C (p.Glu1226Gln) APC:c.3646G>C (p.Glu1216Gln) APC:c.3571G>C (p.Glu1191Gln) APC:c.3469G>C (p.Glu1157Gln) APC:c.3100G>C (p.Glu1034Gln) | APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. Experimental and molecular pathology:2004 |
Gene | Symptoms or Disease | Variations from text | Variations from curated data | Odds Ratios | Citation |
---|---|---|---|---|---|
GSTP1 gene GSTT1 gene GSTM1 gene NAT2 gene NAT1 gene TP53 gene LINC01546 gene MTHFR gene HRAS gene APC gene | Colorectal Neoplasms colorectal cancer | p.Ile1307Lys | APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) | 1.58 2.5 0.76 | Polymorphisms and colorectal tumor risk. Gastroenterology:2001 |
Gene | Symptoms or Disease | History | Variations from text | Variations from curated data | Molecular Consequences | Citation |
---|---|---|---|---|---|---|
GATA2 gene | Lymphedema Leukemia, Myelocytic, Acute | myelodysplastic | p.Thr354Met | GATA2:c.1192C>T (p.Arg398Trp) GATA2:c.1150C>T (p.Arg384Trp) GATA2:c.1192C>T GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) GATA2:c.-200_871+527del GATA2:c.-45-155_871+527del GATA2:c.989_992dup (p.Leu332fs) GATA2:c.1017+2T>G | missense mutation frameshift splice site mutation | Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood:2012 |
ASXL1 gene GATA2 gene RUNX1 gene | Leukemia, Myelocytic, Acute cebpa myelodysplastic syndrome | p.Thr354Met | GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) | Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica:2012 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|---|
NPM1 gene TET2 gene GATA2 gene TERT gene TERC gene CEBPA gene RUNX1 gene | Leukemia, Myelocytic, Acute emberger syndrome nk lymphoid myelodysplastic | 27 | heterozygous | GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) GATA2:c.312_313dup (p.Leu105fs) GATA2:c.1021_1024dup (p.Ala342fs) GATA2:c.1018-39_1018-36dup GATA2:c.121C>G (p.Pro41Ala) GATA2:c.121C>G GATA2:c.1187G>A (p.Arg396Gln) GATA2:c.1187G>A GATA2:c.1145G>A (p.Arg382Gln) | Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. British journal of haematology:2012 | ||||
ASXL1 gene GATA2 gene CEBPA gene RUNX1 gene | Leukemia, Myelocytic, Acute myelodys-plastic syndrome myelodysplastic syndrome | p.Thr354Met | GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) | Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica:2012 | |||||
GATA2 gene | Lymphedema Leukemia, Myelocytic, Acute myelodysplastic syndrome | heterozygous | p.Thr354Met | GATA2:c.1192C>T (p.Arg398Trp) GATA2:c.1150C>T (p.Arg384Trp) GATA2:c.1192C>T GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) GATA2:c.-200_871+527del GATA2:c.-45-155_871+527del GATA2:c.989_992dup (p.Leu332fs) GATA2:c.1017+2T>G | frameshift splice site mutation | Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood:2012 | |||
GATA2 gene | myeloid malignancies | p.Arg396Gln p.Thr354Met | GATA2:c.1021_1024dup (p.Ala342fs) GATA2:c.1018-39_1018-36dup GATA2:c.1187G>A (p.Arg396Gln) GATA2:c.1187G>A GATA2:c.1145G>A (p.Arg382Gln) GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) | GATA2 germline mutations impair GATA2 transcription, causing haploinsufficiency: functional analysis of the p.Arg396Gln mutation. Journal of immunology (Baltimore, Md. : 1950):2015 | |||||
GATA2 gene | Anemia Congenital neutropenia Monocytopenia Leukemia, Myelocytic, Acute emberger syndrome mycobacterial infections myelodysplastic syndrome | 28 | GATA2:c.1192C>T (p.Arg398Trp) GATA2:c.1150C>T (p.Arg384Trp) GATA2:c.1192C>T GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) GATA2:c.-200_871+527del GATA2:c.-45-155_871+527del GATA2:c.1084_1095del GATA2:c.1084_1095del (p.Arg362_Asn365del) GATA2:c.1042_1053del (p.Arg348_Asn351del) GATA2:c.243delinsGC (p.Gly82fs) GATA2:c.1009C>T (p.Arg337Ter) GATA2:c.1009C>T GATA2:c.1187G>A (p.Arg396Gln) GATA2:c.1187G>A GATA2:c.1145G>A (p.Arg382Gln) GATA2:c.1017+572C>T GATA2:c.988C>T (p.Arg330Ter) GATA2:c.1186C>T GATA2:c.1186C>T (p.Arg396Trp) GATA2:c.1144C>T (p.Arg382Trp) GATA2:c.1082G>A (p.Arg361His) GATA2:c.1040G>A (p.Arg347His) GATA2:c.1018-43G>A GATA2:c.1018-1G>A GATA2:c.941_951dup (p.Ala318fs) GATA2:c.769_778dup (p.Tyr260fs) GATA2:c.1117_1131del (p.Cys373_Tyr377del) GATA2:c.1075_1089del (p.Cys359_Tyr363del) GATA2:c.1099dup (p.Asp367fs) GATA2:c.1057dup (p.Asp353fs) GATA2:c.417dup (p.Val140fs) | nucleaotide-sequencing | GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood:2015 | ||||
RUNX1 gene GATA2 gene | Leukemia, Myelocytic, Acute myelodysplastic | 59 | 17 | GATA2:c.1192C>T (p.Arg398Trp) GATA2:c.1150C>T (p.Arg384Trp) GATA2:c.1192C>T GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) FANCA:c.1340C>T FANCA:c.1340C>T (p.Ser447Leu) GATA2:c.1017+572C>T FANCA:c.3349-3C>T | nucleaotide-sequencing | frameshift | Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood:2015 | ||
GATA2 gene | Bone Marrow Diseases Leukemia, Myelocytic, Acute clonal hematopoiesis hypocellular/aplastic bone marrows myelomonocytic leukemia myelodysplastic syndrome bone marrow failure | 25 | GATA2:c.1192C>T (p.Arg398Trp) GATA2:c.1150C>T (p.Arg384Trp) GATA2:c.1192C>T GATA2:c.1061C>T (p.Thr354Met) GATA2:c.1061C>T GATA2:c.1019C>T (p.Thr340Met) GATA2:c.1084C>T GATA2:c.1084C>T (p.Arg362Ter) GATA2:c.1042C>T (p.Arg348Ter) GATA2:c.1187G>A (p.Arg396Gln) GATA2:c.1187G>A GATA2:c.1145G>A (p.Arg382Gln) GATA2:c.1017+572C>T GATA2:c.988C>T (p.Arg330Ter) GATA2:c.1186C>T GATA2:c.1186C>T (p.Arg396Trp) GATA2:c.1144C>T (p.Arg382Trp) GATA2:c.1114G>A GATA2:c.1114G>A (p.Ala372Thr) GATA2:c.1072G>A (p.Ala358Thr) GATA2:c.1082G>A (p.Arg361His) GATA2:c.1040G>A (p.Arg347His) GATA2:c.586_593dup (p.Gly199fs) GATA2:c.1036G>A (p.Gly346Ser) GATA2:c.1018-24G>A GATA2:c.802G>T GATA2:c.802G>T (p.Gly268Ter) GATA2:c.417dup (p.Val140fs) GATA2:c.1021G>C (p.Ala341Pro) GATA2:c.1018-39G>C | MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations. Leukemia research:2019 |
Gene | Symptoms or Disease | Total Cases | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|
PRKN gene | melanoma s disease parkinson | 512 | PRKN:c.823C>T PRKN:c.823C>T (p.Arg275Trp) PRKN:c.739C>T (p.Arg247Trp) PRKN:c.376C>T (p.Arg126Trp) PRKN:c.1310C>T (p.Pro437Leu) PRKN:c.1226C>T (p.Pro409Leu) PRKN:c.863C>T (p.Pro288Leu) PRKN:c.1310C>T PRKN:c.155delA PRKN:c.155del (p.Asn52fs) PRKN:c.8-14A>G | nucleaotide-sequencing western blot | PARKIN Inactivation Links Parkinson's Disease to Melanoma. Journal of the National Cancer Institute:2016 |
Gene | Symptoms or Disease | Number of families | Variations from curated data | Citation |
---|---|---|---|---|
EPCAM gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene | lynch syndrome | 15 | MSH2:c.1786_1788del MSH2:c.1786_1788del (p.Asn596del) MSH2:c.1588_1590del (p.Asn530del) MLH1:c.382C>T (p.Arg128Ter) MLH1:c.-141C>T MLH1:c.-254C>T MLH1:c.-151C>T MLH1:c.676C>T (p.Arg226Ter) MLH1:c.577C>T (p.Arg193Ter) MLH1:c.56C>T (p.Thr19Met) MLH1:c.-467C>T MLH1:c.-580C>T MLH1:c.-477C>T MLH1:c.-385C>T MLH1:c.350C>T (p.Thr117Met) MLH1:c.251C>T (p.Thr84Met) MLH1:c.1018G>A (p.Ala340Thr) MLH1:c.967G>A (p.Ala323Thr) MLH1:c.1948G>A (p.Ala650Thr) MLH1:c.1942G>A (p.Ala648Thr) MLH1:c.1876G>A (p.Ala626Thr) MLH1:c.1896+1272G>A MSH2:c.1705_1706delGA MSH2:c.1705_1706del (p.Glu569fs) MSH2:c.1507_1508del (p.Glu503fs) MSH2:c.942+3A>T MSH2:c.744+3A>T PMS2:c.1032C>G (p.His344Gln) PMS2:c.1281C>G (p.His427Gln) PMS2:c.1119C>G (p.His373Gln) PMS2:c.876C>G (p.His292Gln) PMS2:c.504C>G (p.His168Gln) PMS2:c.864C>G (p.His288Gln) PMS2:c.1437C>G (p.His479Gln) PMS2:c.1128C>G (p.His376Gln) PMS2:c.1859T>C (p.Ile620Thr) PMS2:c.2108T>C (p.Ile703Thr) PMS2:c.1946T>C (p.Ile649Thr) PMS2:c.1703T>C (p.Ile568Thr) PMS2:c.1331T>C (p.Ile444Thr) PMS2:c.1691T>C (p.Ile564Thr) PMS2:c.2264T>C (p.Ile755Thr) PMS2:c.1955T>C (p.Ile652Thr) MSH6:c.124C>T (p.Pro42Ser) MSH6:c.-613C>T MSH6:c.1483C>T (p.Arg495Ter) MSH6:c.1093C>T (p.Arg365Ter) MSH6:c.577C>T (p.Arg193Ter) MSH6:c.1932G>C (p.Arg644Ser) MSH6:c.1542G>C (p.Arg514Ser) MSH6:c.1026G>C (p.Arg342Ser) MSH6:c.2194C>T (p.Arg732Ter) MSH6:c.1804C>T (p.Arg602Ter) MSH6:c.1288C>T (p.Arg430Ter) MSH6:c.3119_3120del (p.Asn1039_Phe1040insTer) MSH6:c.2729_2730del (p.Asn909_Phe910insTer) MSH6:c.2213_2214del (p.Asn737_Phe738insTer) MSH6:c.663A>C (p.Glu221Asp) MSH6:c.273A>C (p.Glu91Asp) MSH6:c.-244A>C MLH1:c.719A>G (p.Asn240Ser) MLH1:c.-11A>G MLH1:c.1013A>G (p.Asn338Ser) MLH1:c.914A>G (p.Asn305Ser) MLH1:c.-36-5199A>G MLH1:c.729del (p.Met244fs) MLH1:c.-1del MLH1:c.1023del (p.Met342fs) MLH1:c.924del (p.Met309fs) MLH1:c.-36-5189del MLH1:c.119del (p.Cys39_Leu40insTer) MLH1:c.-602-3del MLH1:c.-723+2731del MLH1:c.-705-3del MLH1:c.-510-3del MLH1:c.-168-3del MLH1:c.-608-3del MLH1:c.-517+2958del MLH1:c.-695A>G MLH1:c.-808A>G MLH1:c.-705A>G MLH1:c.-608A>G MLH1:c.122A>G (p.Asp41Gly) MLH1:c.-723+2734A>G MLH1:c.-517+2961A>G MLH1:c.982C>T (p.Gln328Ter) MLH1:c.253C>T (p.Gln85Ter) MLH1:c.202C>T (p.Gln68Ter) MLH1:c.1276C>T (p.Gln426Ter) MLH1:c.1177C>T (p.Gln393Ter) MLH1:c.337G>C (p.Gly113Arg) MLH1:c.286G>C (p.Gly96Arg) MLH1:c.1360G>C (p.Gly454Arg) MLH1:c.1261G>C (p.Gly421Arg) MLH1:c.1165C>T (p.Arg389Ter) MLH1:c.436C>T (p.Arg146Ter) MLH1:c.385C>T (p.Arg129Ter) MLH1:c.1459C>T (p.Arg487Ter) MLH1:c.1360C>T (p.Arg454Ter) MLH1:c.1206_1208del (p.Ile403del) MLH1:c.477_479del (p.Ile160del) MLH1:c.426_428del (p.Ile143del) MLH1:c.1500_1502del (p.Ile501del) MLH1:c.1401_1403del (p.Ile468del) MLH1:c.1558+1G>T MLH1:c.484+1G>T MLH1:c.835+1G>T MLH1:c.1459+1G>T MLH1:c.1264+1G>T MLH1:c.895C>T (p.Pro299Ser) MLH1:c.844C>T (p.Pro282Ser) MLH1:c.1819C>T (p.Pro607Ser) MLH1:c.1753C>T (p.Pro585Ser) MLH1:c.1897-366C>T MLH1:c.1896+855C>T MLH1:c.952C>T (p.Arg318Ter) MLH1:c.901C>T (p.Arg301Ter) MLH1:c.1876C>T (p.Arg626Ter) MLH1:c.1810C>T (p.Arg604Ter) MLH1:c.1897-309C>T MLH1:c.1896+912C>T MLH1:c.1975C>T (p.Arg659Ter) MLH1:c.-618G>A MLH1:c.-731G>A MLH1:c.-628G>A MLH1:c.-531G>A MLH1:c.199G>A (p.Gly67Arg) MLH1:c.-723+2811G>A MLH1:c.-517+3038G>A MLH1:c.1004T>C (p.Leu335Pro) MLH1:c.953T>C (p.Leu318Pro) MLH1:c.1934T>C (p.Leu645Pro) MLH1:c.1928T>C (p.Leu643Pro) MLH1:c.1862T>C (p.Leu621Pro) MLH1:c.1896+1258T>C MLH1:c.2027T>C (p.Leu676Pro) MLH1:c.1036C>T (p.Arg346Trp) MLH1:c.985C>T (p.Arg329Trp) MLH1:c.1966C>T (p.Arg656Trp) MLH1:c.1960C>T (p.Arg654Trp) MLH1:c.1894C>T (p.Arg632Trp) MLH1:c.1896+1290C>T MLH1:c.1369_1370del (p.Ser457fs) MLH1:c.1018_1019del (p.Ser340fs) MLH1:c.1999_2000del (p.Ser667fs) MLH1:c.1993_1994del (p.Ser665fs) MLH1:c.1927_1928del (p.Ser643fs) MLH1:c.1896+1323_1896+1324del MLH1:c.1930C>T (p.Gln644Ter) MLH1:c.1201C>T (p.Gln401Ter) MLH1:c.1150C>T (p.Gln384Ter) MLH1:c.2131C>T (p.Gln711Ter) MLH1:c.2125C>T (p.Gln709Ter) MLH1:c.2059C>T (p.Gln687Ter) MLH1:c.1958_1959dup (p.Val654fs) MLH1:c.1229_1230dup (p.Val411fs) MLH1:c.1178_1179dup (p.Val394fs) MLH1:c.2159_2160dup (p.Val721fs) MLH1:c.2153_2154dup (p.Val719fs) MLH1:c.2087_2088dup (p.Val697fs) MLH1:c.306+5G>A MLH1:c.-521+5G>A MLH1:c.-326+10G>A MLH1:c.208-3343G>A MLH1:c.-418+5G>A MLH1:c.-326+5G>A MLH1:c.12+10G>A MLH1:c.-429+10G>A MLH1:c.-427dup MLH1:c.-324dup MLH1:c.503dup (p.Asn168fs) MLH1:c.404dup (p.Asn135fs) MLH1:c.-179+1800dup MLH1:c.-282+1800dup MLH1:c.371del (p.Asn124fs) MLH1:c.-152del MLH1:c.-265del MLH1:c.-162del MLH1:c.665del (p.Asn222fs) MLH1:c.566del (p.Asn189fs) MLH1:c.677+1G>A MLH1:c.-150+1G>A MLH1:c.-47+1G>A MLH1:c.578+1G>A MLH1:c.383+1G>A MLH1:c.677+5G>A MLH1:c.-150+5G>A MLH1:c.-47+5G>A MLH1:c.578+5G>A MLH1:c.383+5G>A MLH1:c.790+1G>A MLH1:c.-37+1G>A MLH1:c.67+1G>A MLH1:c.691+1G>A MLH1:c.496+1G>A MLH1:c.-202C>T MLH1:c.-961C>T MLH1:c.-1074C>T MLH1:c.-983C>T MLH1:c.-744C>T MLH1:c.-642C>T MLH1:c.-739C>T MLH1:c.-971C>T MLH1:c.83C>T (p.Pro28Leu) MLH1:c.607C>T (p.Gln203Ter) MLH1:c.-123C>T MLH1:c.901C>T (p.Gln301Ter) MLH1:c.802C>T (p.Gln268Ter) MLH1:c.-36-5311C>T MLH1:c.-194_-193delinsTG MLH1:c.-953_-952delinsTG MLH1:c.-1066_-1065delinsTG MLH1:c.-975_-974delinsTG MLH1:c.-736_-735delinsTG MLH1:c.-634_-633delinsTG MLH1:c.-731_-730delinsTG MLH1:c.-963_-962delinsTG MLH1:c.91_92delinsTG (p.Ala31Cys) MSH2:c.1147C>T MSH2:c.1147C>T (p.Arg383Ter) MSH2:c.949C>T (p.Arg317Ter) MSH2:c.1215C>A MSH2:c.1215C>A (p.Tyr405Ter) MSH2:c.1017C>A (p.Tyr339Ter) MSH2:c.1255C>T MSH2:c.1255C>T (p.Gln419Ter) MSH2:c.1057C>T (p.Gln353Ter) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G MSH2:c.1759+1G>A MSH2:c.1561+1G>A MSH2:c.1777C>T (p.Gln593Ter) MSH2:c.1777C>T MSH2:c.1579C>T (p.Gln527Ter) MSH2:c.1861C>T MSH2:c.1861C>T (p.Arg621Ter) MSH2:c.1663C>T (p.Arg555Ter) MSH2:c.187del (p.Gly62_Val63insTer) MSH2:c.187del MSH2:c.-12del MSH2:c.1911del (p.Arg638fs) MSH2:c.1713del (p.Arg572fs) MSH2:c.1911del MSH2:c.2131C>T MSH2:c.2131C>T (p.Arg711Ter) MSH2:c.1933C>T (p.Arg645Ter) MSH2:c.2152C>T MSH2:c.2152C>T (p.Gln718Ter) MSH2:c.1954C>T (p.Gln652Ter) MSH2:c.226C>T MSH2:c.226C>T (p.Gln76Ter) MSH2:c.28C>T (p.Gln10Ter) MSH2:c.229_230del MSH2:c.229_230del (p.Ser77fs) MSH2:c.31_32del (p.Ser11fs) MSH2:c.2785C>T (p.Arg929Ter) MSH2:c.2587C>T (p.Arg863Ter) MSH2:c.2785C>T MSH2:c.289C>T MSH2:c.289C>T (p.Gln97Ter) MSH2:c.91C>T (p.Gln31Ter) MSH2:c.425C>G MSH2:c.425C>G (p.Ser142Ter) MSH2:c.227C>G (p.Ser76Ter) MSH2:c.435T>G MSH2:c.435T>G (p.Ile145Met) MSH2:c.237T>G (p.Ile79Met) MSH2:c.484G>A MSH2:c.484G>A (p.Gly162Arg) MSH2:c.286G>A (p.Gly96Arg) MSH2:c.528_529del MSH2:c.528_529del (p.Cys176_Glu177delinsTer) MSH2:c.330_331del (p.Cys110_Glu111delinsTer) MSH2:c.557A>G MSH2:c.557A>G (p.Asn186Ser) MSH2:c.359A>G (p.Asn120Ser) MSH2:c.862C>T MSH2:c.862C>T (p.Gln288Ter) MSH2:c.664C>T (p.Gln222Ter) PMS2:c.1675dup (p.Ile559fs) PMS2:c.1513dup (p.Ile505fs) PMS2:c.1426dup (p.Ile476fs) PMS2:c.1270dup (p.Ile424fs) PMS2:c.898dup (p.Ile300fs) PMS2:c.1258dup (p.Ile420fs) PMS2:c.1831dup (p.Ile611fs) PMS2:c.1522dup (p.Ile508fs) PMS2:c.1831dup PMS2:c.2036_2040del (p.Leu679fs) PMS2:c.1874_1878del (p.Leu625fs) PMS2:c.1787_1791del (p.Leu596fs) PMS2:c.1631_1635del (p.Leu544fs) PMS2:c.1259_1263del (p.Leu420fs) PMS2:c.1619_1623del (p.Leu540fs) PMS2:c.2192_2196del (p.Leu731fs) PMS2:c.1883_1887del (p.Leu628fs) PMS2:c.2192_2196delTAACT PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G MLH1:c.790+1G>T MLH1:c.-37+1G>T MLH1:c.67+1G>T MLH1:c.691+1G>T MLH1:c.496+1G>T PMS2:c.806C>G (p.Pro269Arg) PMS2:c.1055C>G (p.Pro352Arg) PMS2:c.893C>G (p.Pro298Arg) PMS2:c.650C>G (p.Pro217Arg) PMS2:c.278C>G (p.Pro93Arg) PMS2:c.638C>G (p.Pro213Arg) PMS2:c.1211C>G (p.Pro404Arg) PMS2:c.902C>G (p.Pro301Arg) MSH6:c.3971AGA[1] (p.Lys1325del) MSH6:c.3581AGA[1] (p.Lys1195del) MSH6:c.3065AGA[1] (p.Lys1023del) MLH1:c.1070C>G (p.Ser357Ter) MLH1:c.1019C>G (p.Ser340Ter) MLH1:c.2000C>G (p.Ser667Ter) MLH1:c.1994C>G (p.Ser665Ter) MLH1:c.1928C>G (p.Ser643Ter) MLH1:c.1896+1324C>G MLH1:c.545+3A>G MLH1:c.-282+3A>G MLH1:c.-179+1845A>G MLH1:c.446+3A>G MLH1:c.-179+3A>G MLH1:c.251+3A>G MLH1:c.-282+1845A>G MSH2:c.1662-2A>G MSH2:c.1464-2A>G MSH2:c.905T>A MSH2:c.905T>A (p.Leu302Ter) MSH2:c.707T>A (p.Leu236Ter) MSH6:c.3632T>C (p.Leu1211Pro) MSH6:c.3242T>C (p.Leu1081Pro) MSH6:c.2726T>C (p.Leu909Pro) MSH6:c.733A>T (p.Ile245Leu) MSH6:c.343A>T (p.Ile115Leu) MSH6:c.-174A>T MLH1:c.307-2A>G MLH1:c.-520-2A>G MLH1:c.-325-2A>G MLH1:c.208-2A>G MLH1:c.-417-2A>G MLH1:c.13-2A>G MLH1:c.-428-2A>G PMS2:c.2026_2028delinsG (p.Thr676fs) PMS2:c.1864_1866delinsG (p.Thr622fs) PMS2:c.1777_1779delinsG (p.Thr593fs) PMS2:c.1621_1623delinsG (p.Thr541fs) PMS2:c.1249_1251delinsG (p.Thr417fs) PMS2:c.1609_1611delinsG (p.Thr537fs) PMS2:c.2182_2184delinsG (p.Thr728fs) PMS2:c.1873_1875delinsG (p.Thr625fs) PMS2:c.2182_2187delACTCTCinsGCTC MSH6:c.3772C>G (p.Gln1258Glu) MSH6:c.3382C>G (p.Gln1128Glu) MSH6:c.2866C>G (p.Gln956Glu) MLH1:c.1021_1022del (p.Met341fs) MLH1:c.970_971del (p.Met324fs) MLH1:c.1951_1952del (p.Met651fs) MLH1:c.1945_1946del (p.Met649fs) MLH1:c.1879_1880del (p.Met627fs) MLH1:c.1896+1275_1896+1276del MSH2:c.897T>G MSH2:c.897T>G (p.Tyr299Ter) MSH2:c.699T>G (p.Tyr233Ter) MLH1:c.117-1G>A MLH1:c.-710-1G>A MLH1:c.-510-1G>A MLH1:c.-602-6G>A MLH1:c.-705-6G>A MLH1:c.-510-6G>A MLH1:c.-168-6G>A MLH1:c.-608-6G>A MLH1:c.-517+2955G>A MSH2:c.2078G>A (p.Cys693Tyr) MSH2:c.2078G>A MSH2:c.1880G>A (p.Cys627Tyr) MSH2:c.943-1G>T MSH2:c.745-1G>T MSH2:c.425C>A MSH2:c.425C>A (p.Ser142Ter) MSH2:c.227C>A (p.Ser76Ter) MLH1:c.-528T>G MLH1:c.-641T>G MLH1:c.-538T>G MLH1:c.-441T>G MLH1:c.289T>G (p.Tyr97Asp) MLH1:c.208-3365T>G MSH2:c.1759+57G>T MSH2:c.1561+57G>T MLH1:c.884+5T>C MLH1:c.-37+3060T>C MLH1:c.161+5T>C MLH1:c.785+5T>C MLH1:c.590+5T>C MLH1:c.588+5G>T MLH1:c.-239+5G>T MLH1:c.-136+5G>T MLH1:c.489+5G>T MLH1:c.294+5G>T MSH2:c.112G>T MSH2:c.112G>T (p.Asp38Tyr) MSH2:c.-30-57G>T MSH6:c.3486dup (p.Glu1163Terfs) MSH6:c.2580dup (p.Glu861Terfs) MSH6:c.3492dup (p.Glu1165Terfs) MSH6:c.1920dup (p.Glu641Terfs) MSH6:c.3189dup (p.Glu1064Terfs) MSH6:c.44C>T (p.Pro15Leu) MSH6:c.-693C>T MSH6:c.1519dup (p.Arg507fs) MSH6:c.1129dup (p.Arg377fs) MSH6:c.613dup (p.Arg205fs) PMS2:c.1631T>C (p.Ile544Thr) PMS2:c.1880T>C (p.Ile627Thr) PMS2:c.1718T>C (p.Ile573Thr) PMS2:c.1475T>C (p.Ile492Thr) PMS2:c.1103T>C (p.Ile368Thr) PMS2:c.1463T>C (p.Ile488Thr) PMS2:c.2036T>C (p.Ile679Thr) PMS2:c.1727T>C (p.Ile576Thr) MLH1:c.811dup (p.Ser271fs) MLH1:c.82dup (p.Ser28fs) MLH1:c.31dup (p.Ser11fs) MLH1:c.1105dup (p.Ser369fs) MLH1:c.1006dup (p.Ser336fs) MLH1:c.500G>C (p.Arg167Pro) MLH1:c.794G>C (p.Arg265Pro) MLH1:c.695G>C (p.Arg232Pro) MLH1:c.-139-2801G>C MLH1:c.-37+2965G>C MLH1:c.703_706del (p.Lys235fs) MLH1:c.-27_-24del MLH1:c.997_1000del (p.Lys333fs) MLH1:c.898_901del (p.Lys300fs) MLH1:c.-36-5215_-36-5212del MLH1:c.617del (p.Asp206fs) MLH1:c.-113del MLH1:c.911del (p.Asp304fs) MLH1:c.812del (p.Asp271fs) MLH1:c.-36-5301del MSH2:c.458C>G MSH2:c.458C>G (p.Ser153Cys) MSH2:c.260C>G (p.Ser87Cys) MSH6:c.3023C>T (p.Thr1008Ile) MSH6:c.2633C>T (p.Thr878Ile) MSH6:c.2117C>T (p.Thr706Ile) MLH1:c.-427del MLH1:c.-324del MLH1:c.503del (p.Asn168fs) MLH1:c.404del (p.Asn135fs) MLH1:c.-179+1800del MLH1:c.-282+1800del MLH1:c.1039C>T (p.Gln347Ter) MLH1:c.310C>T (p.Gln104Ter) MLH1:c.259C>T (p.Gln87Ter) MLH1:c.1333C>T (p.Gln445Ter) MLH1:c.1234C>T (p.Gln412Ter) PMS2:c.739G>C (p.Gly247Arg) PMS2:c.826G>C (p.Gly276Arg) PMS2:c.211G>C (p.Gly71Arg) PMS2:c.571G>C (p.Gly191Arg) PMS2:c.1144G>C (p.Gly382Arg) PMS2:c.835G>C (p.Gly279Arg) PMS2:c.583+2173G>C PMS2:c.988+2173G>C MSH6:c.1133_1134delGA MSH6:c.1133_1134del (p.Arg378fs) MSH6:c.743_744del (p.Arg248fs) MSH6:c.227_228del (p.Arg76fs) PMS2:c.231-1G>T PMS2:c.-130-1G>T PMS2:c.399-1G>T PMS2:c.495-1G>T PMS2:c.486-1G>T PMS2:c.804-1G>T | A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. BMC cancer:2017 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Zygosity | Variations from text | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|
MLH1 gene | Malignant neoplasm of brain Colon Carcinoma Mucinous Adenocarcinoma Colorectal Carcinoma tumor of the cecum lynch syndrome | 64(year) | female | heterozygous | c.910dupG | duplication | Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology:2018 |
Gene | Symptoms or Disease | Zygosity | Variations from text | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|
MLH1 gene MSH2 gene | Brain Neoplasms Colon Carcinoma Mucinous Adenocarcinoma Colorectal Carcinoma lynch syndrome | heterozygous | c.910dupG | frameshift | autosomal dominant | Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology:2018 |
Gene | Symptoms or Disease | Variations from curated data | Molecular Consequences | Citation |
---|---|---|---|---|
FH gene | Renal Cell Carcinoma leiomyomatosis and renal cancer leiomyomata multiple cutaneous and uterine leiomyomatosis fh deficiency syndrome | FH:c.521C>G FH:c.521C>G (p.Pro174Arg) FH:c.320A>C FH:c.320A>C (p.Asn107Thr) FH:c.1189G>A (p.Gly397Arg) FH:c.1097G>A (p.Ser366Asn) FH:c.688A>G (p.Lys230Glu) FH:c.425A>G (p.Gln142Arg) FH:c.425A>G FH:c.690G>C (p.Lys230Asn) FH:c.683TCA[1] (p.Ile229del) FH:c.1520T>C FH:c.1520T>C (p.Leu507Pro) FH:c.998G>A (p.Cys333Tyr) FH:c.1391-269A>G | premature stop | Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Human molecular genetics:2003 |
Gene | Symptoms or Disease | Patient's Sex | History | Zygosity | Variations from text | Variations from curated data | Tech | Interventions | Citation |
---|---|---|---|---|---|---|---|---|---|
DPYD gene | metastatic breast cancer | female | heterozygous | c.2846A>T | DPYD:c.2846A>T (p.Asp949Val) | vinorelbine capecitabine | Lethal toxicities after capecitabine intake in a previously 5-FU-treated patient: why dose matters with dihydropryimidine dehydrogenase deficiency. Pharmacogenomics:2019 | ||
DPYD gene | cancer metastatic | Hypertrophy of Breast | compound heterozygous | c.2194G>A c.1850C>T c.496A>G c.257C>T c.2846A>T c.IVS14+1G>A | DPYD:c.2194G>A (p.Val732Ile) DPYD:c.257C>T (p.Pro86Leu) DPYD:c.257C>T DPYD:c.496A>G (p.Met166Val) DPYD:c.2846A>T (p.Asp949Val) | nucleaotide-sequencing | capecitabine trastuzumab | Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant. Pharmacogenomics:2016 |
Gene | Symptoms or Disease | Total Cases | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|
DPYD gene | Colorectal Carcinoma | 568 | c.1236G>A c.2846A>T c.IVS14+1G>A | DPYD:c.1236G>A (p.Glu412=) DPYD:c.2846A>T (p.Asp949Val) | Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clinical cancer research : an official journal of the American Association for Cancer Research:2011 | ||
DPYD gene | Diarrhea hand-foot syndrome mucositis myelotoxicity solid cancers | c.1679T>G c.2846A>T c.+1G>A | DPYD:c.1905+1G>A DPYD:c.2846A>T (p.Asp949Val) DPYD:c.1679T>G (p.Ile560Ser) | nucleaotide-sequencing | splice site mutation | The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients. Cancer chemotherapy and pharmacology:2010 | |
UGT2B7 gene ABCG2 gene ABCC2 gene ABCB1 gene RAD54L gene RECQL gene ERCC1 gene ERCC2 gene XRCC3 gene XRCC1 gene DPYD gene GSTT1 gene GSTM1 gene GSTP1 gene MTHFR gene TYMS gene | Colorectal Carcinoma hand-foot syndrome neutropenia gastroesophageal cancer gastrointestinal malignancies | 64 | p.Ala313Gly p.Ala2846Thr p.Thr1896Cys p.Thr85Cys | DPYD:c.1905+1G>A DPYD:c.85T>C (p.Cys29Arg) DPYD:c.2846A>T (p.Asp949Val) DPYD:c.1896T>C (p.Phe632=) DPYD:c.1627A>G (p.Ile543Val) DPYD:c.496A>G (p.Met166Val) | Germline TYMS genotype is highly predictive in patients with metastatic gastrointestinal malignancies receiving capecitabine-based chemotherapy. Cancer chemotherapy and pharmacology:2015 | ||
UGT1A1 gene DPYD gene | Colorectal Carcinoma | 64 | c.1896T>C c.1129-5923C>G c.496A>G c.2846A>T c.1679T>G c.1905+1G>A | DPYD:c.1896T>C (p.Phe632=) DPYD:c.496A>G (p.Met166Val) DPYD:c.1129-5923C>G DPYD:c.2846A>T (p.Asp949Val) DPYD:c.1679T>G (p.Ile560Ser) | DPD and UGT1A1 deficiency in colorectal cancer patients receiving triplet chemotherapy with fluoropyrimidines, oxaliplatin and irinotecan. British journal of clinical pharmacology:2015 | ||
DPYD gene | fluoropyrimidine | 500 | c.2846A>T c.1905+1G>A c.1679T>G c.1129-5923C>G | DPYD:c.2846A>T (p.Asp949Val) DPYD:c.1679T>G (p.Ile560Ser) DPYD:c.1905+1G>A DPYD:c.85T>C (p.Cys29Arg) DPYD:c.2194G>A (p.Val732Ile) DPYD:c.1896T>C (p.Phe632=) DPYD:c.1627A>G (p.Ile543Val) DPYD:c.1601G>A (p.Ser534Asn) DPYD:c.1236G>A (p.Glu412=) DPYD:c.496A>G (p.Met166Val) DPYD:c.1129-5923C>G DPYD:c.632A>G (p.Tyr211Cys) DPYD:c.623G>T DPYD:c.623G>T (p.Arg208Leu) | splice site mutation | Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. International journal of cancer:2015 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Patient's Ethnicity | History | Variations from text | Variations from curated data | Tech | Interventions | Citation |
---|---|---|---|---|---|---|---|---|---|---|
CHEK2 gene | s disease of the breast paget | 53(year) | female | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | mastectomy | Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation. European journal of breast health:2020 | ||||
Breast Carcinoma | Breast Carcinoma | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C BRCA2:c.8290G>A (p.Ala2764Thr) | nucleaotide-sequencing | Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer. International journal of cancer:2020 | ||||||
CHEK2 gene BRCA2 gene | Breast Carcinoma | belarusian | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | |||||
TP53 gene | Li-Fraumeni Syndrome | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Li-fraumeni syndrome. Genes & cancer:2011 | |||||||
CHEK2 gene | Breast Carcinoma Li-Fraumeni Syndrome li-fraumeni | dutch | p.Phe328Ser | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.1566C>T CHEK2:c.1695C>T (p.Pro565=) CHEK2:c.903C>T (p.Pro301=) CHEK2:c.1365C>T (p.Pro455=) CHEK2:c.1566C>T (p.Pro522=) CHEK2:c.1479C>T (p.Pro493=) CHEK2:c.782T>C (p.Phe261Ser) CHEK2:c.983T>C (p.Phe328Ser) CHEK2:c.1112T>C (p.Phe371Ser) CHEK2:c.320T>C (p.Phe107Ser) CHEK2:c.983T>C | The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hereditary cancer in clinical practice:2009 | |||||
CHEK2 gene | Thyroid carcinoma Papillary thyroid carcinoma Breast Carcinoma breast, prostate and colorectal cancer | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 mutations and papillary thyroid cancer: correlation or coincidence? Hereditary cancer in clinical practice:2022 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
MSH6 gene CHEK2 gene CHEK1 gene TP53 gene | Li-Fraumeni Syndrome li-fraumeni-like syndrome | 44 | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) TP53:c.347G>A (p.Arg116Gln) TP53:c.626G>A (p.Arg209Gln) TP53:c.266G>A (p.Arg89Gln) TP53:c.743G>A (p.Arg248Gln) TP53:c.743G>A TP53:c.55C>A (p.Pro19Thr) TP53:c.334C>A (p.Pro112Thr) TP53:c.-27C>A TP53:c.55C>T (p.Pro19Ser) TP53:c.334C>T (p.Pro112Ser) TP53:c.-27C>T TP53:c.190C>T (p.Arg64Ter) TP53:c.469C>T (p.Arg157Ter) TP53:c.109C>T (p.Arg37Ter) TP53:c.241C>T (p.Arg81Ter) TP53:c.520C>T (p.Arg174Ter) TP53:c.160C>T (p.Arg54Ter) MSH6:c.2983G>T (p.Glu995Ter) MSH6:c.2593G>T (p.Glu865Ter) MSH6:c.2077G>T (p.Glu693Ter) | Electrophoresis | p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer research:2001 | |||||
BRCA2 gene BRCA1 gene TP53 gene CHEK2 gene | Breast Carcinoma Li-Fraumeni Syndrome unilateral cancer | 1035 | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. American journal of human genetics:2002 | ||||
CHEK2 gene | Breast Carcinoma | 68 | p.Arg137Gln p.Arg117Gly p.Arg180His c.1100delC c.*1100delC | CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.-368G>A (n.-368G>A) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.-239G>A (n.-239G>A) CHEK2:c.445-107G>A (n.445-107G>A) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. British journal of cancer:2002 | |||||
TP53 gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast and ovarian cancer | 718 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature genetics:2002 | ||||
CHEK2 gene | Malignant neoplasm of prostate prostate carcinogenesis | 149 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1109A>G (p.Tyr370Cys) CHEK2:c.317A>G (p.Tyr106Cys) CHEK2:c.779A>G (p.Tyr260Cys) CHEK2:c.980A>G (p.Tyr327Cys) CHEK2:c.980A>G CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | polymerase chain reaction | frameshift missense mutation | Mutations in CHEK2 associated with prostate cancer risk. American journal of human genetics:2003 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 737 | 335 | p.Ile157Thr p.Arg145Trp p.Arg117Gly c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. American journal of human genetics:2003 | ||||
CHEK2 gene | Colorectal Carcinoma Breast Carcinoma hereditary breast and colorectal cancer | 380 | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. American journal of human genetics:2003 | |||||
CHEK2 gene | Malignant neoplasm of prostate hereditary prostate cancer | 120 | p.Ile157Thr c.1100delC | CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2 variants associate with hereditary prostate cancer. British journal of cancer:2003 | ||||
CHEK2 gene | Breast Carcinoma | 1665 | c.*1100delC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC medical genetics:2003 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma Malignant neoplasm of ovary breast/ovarian cancer breast and | 22 | c.1100delC | BRCA2:c.4258G>T (p.Asp1420Tyr) BRCA1:c.646_650delTCCTC (p.Ser217Glufs) BRCA1:c.637_641delTCCTC (p.Ser214Glufs) BRCA1:c.634_638delTCCTC (p.Ser213Glufs) BRCA2:c.2892A>T (p.Lys964Asn) BRCA1:c.4158_4162del (p.Ser1387GlufsTer2) BRCA1:c.4017_4021del (p.Ser1340GlufsTer2) BRCA1:c.849_853del (p.Ser284GlufsTer2) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nonsense mutation premature stop deletion | BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pacific journal of cancer prevention : APJCP:2003 | ||||
BRCA2 gene CHEK2 gene | Breast Carcinoma | 237 | 71 | c.*1100delC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | frameshift | The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer research:2003 | |||
CHEK2 gene | Colorectal Carcinoma Adenoma of large intestine Li-Fraumeni Syndrome colorectal disease aneuploidy | 149 | heterozygous | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma. Cancer letters:2003 | ||||
CHEK2 gene BRCA2 gene | Breast Carcinoma Li-Fraumeni Syndrome Carcinoma of Male Breast | 114 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC is not a risk factor for male breast cancer population. International journal of cancer:2004 | |||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 516 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.1022A>C CHEK2:c.1151A>C (p.Asn384Thr) CHEK2:c.359A>C (p.Asn120Thr) CHEK2:c.821A>C (p.Asn274Thr) CHEK2:c.1022A>C (p.Asn341Thr) CHEK2:c.1009-1101A>C | splice site mutation | Limited relevance of the CHEK2 gene in hereditary breast cancer. International journal of cancer:2004 | ||||
CHEK2 gene | Breast Carcinoma | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variant I157T may be associated with increased breast cancer risk. International journal of cancer:2004 | ||||||
CHEK2 gene | Breast Carcinoma | 10860 | c.*1100delC c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | frameshift | CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. American journal of human genetics:2004 | ||||
CHEK2 gene | Thyroid carcinoma Malignant neoplasm of prostate Malignant neoplasm of kidney Colon Carcinoma Breast Carcinoma breast and prostate cancer | 4008 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | missense mutation premature stop | CHEK2 is a multiorgan cancer susceptibility gene. American journal of human genetics:2004 | ||||
TP53 gene CHEK2 gene | Adenocarcinoma Squamous cell carcinoma Breast Carcinoma oesophageal carcinogenesis oesophageal squamous cell carcinomas oesophageal adenocarcinoma oesophageal adenocarcinomas | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis. British journal of cancer:2004 | ||||||
CHEK2 gene BRCA2 gene | Malignant neoplasm of ovary Breast Carcinoma Malignant neoplasm of prostate breast | 506 | p.Ile175Thr p.Arg145Trp c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast cancer research : BCR:2004 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 140 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer research:2004 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma breast or ovarian cancer | 1084 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. Journal of medical genetics:2004 | |||||
CHEK2 gene | Breast Carcinoma | 26 | c.1100delC | CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Analysis of familial male breast cancer for germline mutations in CHEK2. Cancer letters:2004 | |||||
CHEK2 gene | Brain Neoplasms lfs syndrome sarcoma malignant melanoma | 101 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction nucleaotide-sequencing | Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skin. Melanoma research:2004 | ||||
CHEK2 gene | Breast Carcinoma | 1297 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients. International journal of cancer:2005 | |||||
CHEK2 gene | Breast Carcinoma | 996 | heterozygous | c.IVS2+1G>A p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Association of two mutations in the CHEK2 gene with breast cancer. International journal of cancer:2005 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 300 | heterozygous | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. British journal of cancer:2005 | ||||
CHEK2 gene | Colorectal Carcinoma Breast Carcinoma breast/ovarian cancer hereditary breast and colorectal cancer | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | frameshift | The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Familial cancer:2005 | |||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma breast-cancer | 469 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet (London, England):2005 | |||||
CHEK2 gene | Breast Carcinoma | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Chromosomal radiosensitivity of breast cancer with a CHEK2 mutation. Cancer genetics and cytogenetics:2005 | ||||||
CHEK2 gene | Breast Carcinoma | 1046 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast cancer research and treatment:2005 | |||||
CHEK2 gene | Breast Carcinoma lobular carcinoma | 482 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Pathology of breast cancer in women with constitutional CHEK2 mutations. Breast cancer research and treatment:2005 | ||||
CHEK2 gene | Breast Carcinoma | 962 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors. European journal of cancer (Oxford, England : 1990):2005 | |||||
CHEK2 gene | Breast Carcinoma colorectal and endometrial cancer breast and colorectal cancers | 629 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Colorectal cancer and the CHEK2 1100delC mutation. Genes, chromosomes & cancer:2005 | |||||
CHEK2 gene | Malignant neoplasm of prostate cancer breast and prostate cancer | 419 | c.1100delC c.*1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2*1100delC is not an important high-risk gene in families with hereditary prostate cancer in southern Sweden. Scandinavian journal of urology and nephrology:2006 | |||||
MSH2 gene CHEK2 gene | Colorectal Carcinoma Breast Carcinoma hbcc syndrome breast and colorectal cancer | 113 | 184 | c.1100delC | BRCA2:c.9699_9702del (p.Cys3233fs) BRCA2:c.9498del (p.Glu3167fs) BRCA2:c.9666del (p.Cys3222fs) BRCA2:c.9924C>G (p.Tyr3308Ter) BRCA2:c.9924C>T (p.Tyr3308=) BRCA2:c.9513_9516del (p.Leu3172fs) BRCA1:c.3163delC (p.Gln1055Lysfs) BRCA1:c.3160delC (p.Gln1054Lysfs) BRCA1:c.3145delC (p.Gln1049Lysfs) BRCA1:c.3142delC (p.Gln1048Lysfs) BRCA1:c.2953delC (p.Gln985Lysfs) MLH1:c.88del (p.Ala30fs) MLH1:c.-435del MLH1:c.-548del MLH1:c.-445del MLH1:c.-353del MLH1:c.382del (p.Ala128fs) MLH1:c.283del (p.Ala95fs) MLH1:c.607C>T (p.Gln203Ter) MLH1:c.-123C>T MLH1:c.901C>T (p.Gln301Ter) MLH1:c.802C>T (p.Gln268Ter) MLH1:c.-36-5311C>T MSH2:c.1777C>T (p.Gln593Ter) MSH2:c.1777C>T MSH2:c.1579C>T (p.Gln527Ter) BRCA2:c.9682del (p.Ser3228fs) BRCA2:c.9672dup (p.Tyr3225fs) BRCA2:c.9891_9894dup (p.Gln3299fs) BRCA2:c.9748dup (p.Ser3250fs) BRCA2:c.9789_9790del (p.Asn3264fs) BRCA2:c.9593_9594del (p.Cys3198fs) BRCA2:c.9777del (p.Ile3259fs) BRCA2:c.9584_9586delinsAT BRCA2:c.9584_9586delinsAT (p.Thr3195fs) BRCA2:c.9836dup (p.Leu3279fs) BRCA1:c.3286del (p.Gln1096LysfsTer13) BRCA1:c.3145del (p.Gln1049LysfsTer13) BRCA1:c.788-1213del (n.788-1213del) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. Clinical genetics:2006 | ||||
CHEK2 gene | Malignant neoplasm of ovary borderline ovarian cancers ovarian cystadenomas ovarian benign ovarian cystadenomas | 1108 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. Gynecologic oncology:2006 | |||||
CHEK2 gene | Breast Carcinoma | 296 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Low frequency of the CHEK2*1100delC mutation among breast cancer probands from three regions of Poland. Neoplasma:2006 | |||||
CHEK2 gene | Colorectal Carcinoma Breast Carcinoma breast and colorectal cancer hereditary breast and colorectal cancer hereditary cancer multiple primary tumors development | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum. BMC cancer:2006 | ||||||
CHEK2 gene | Breast Carcinoma | 1577 | c.1100delC | CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk. PLoS medicine:2006 | |||||
CHEK2 gene | Breast Carcinoma | p.Arg117Gly c.483-485delAGA c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer research:2006 | ||||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. Journal of medical genetics:2006 | ||||||
CHEK2 gene | Breast Carcinoma Colorectal Carcinoma breast and colorectal cancer | 644 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC variant in Swedish colorectal cancer. Anticancer research:2006 | |||||
CHEK2 gene | Breast Carcinoma | 660 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC mutation is frequent among Russian breast cancer patients. Breast cancer research and treatment:2006 | |||||
CHEK2 gene | Breast Carcinoma breast disease | 2311 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2006 | |||||
CHEK2 gene | Malignant neoplasm of lung Colorectal Carcinoma Malignant neoplasm of prostate Breast Carcinoma colorectal | 11116 | 67 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2006 | |||
CHEK2 gene | Breast Carcinoma | 3228 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | premature stop missense mutation | CHEK2-positive breast cancers in young Polish women. Clinical cancer research : an official journal of the American Association for Cancer Research:2006 | |||
BRCA1 gene CHEK2 gene | Breast Carcinoma | 248 | p.Pro85Leu p.His143Tyr c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.1312G>T (p.Val438Phe) CHEK2:c.520G>T (p.Val174Phe) CHEK2:c.982G>T (p.Val328Phe) CHEK2:c.1183G>T (p.Val395Phe) CHEK2:c.1096G>T (p.Val366Phe) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-524C>T (n.-524C>T) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. International journal of cancer:2007 | |||||
NLRP2 gene BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | 302 | p.Cys61Gly c.300T>G c.657_662del c.6174delT c.185delAG c.IVS2+1G>A c.4153delA c.1100delC c.5382insC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.469delA (p.Ser157Alafs) BRCA1:c.760delA (p.Ser254Alafs) BRCA1:c.763delA (p.Ser255Alafs) BRCA1:c.4282del (p.Ser1428fs) BRCA1:c.4141del (p.Ser1381fs) BRCA1:c.973del (p.Ser325fs) BRCA1:c.973delA (p.Ser325Alafs) BRCA1:c.4282del | Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Familial cancer:2007 | |||||
CHEK2 gene | Breast Carcinoma | 763 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. BMC cancer:2007 | ||||
CHEK2 gene | Breast Carcinoma | 4454 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop missense mutation deletion | A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast cancer research and treatment:2007 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene MDM2 gene | Breast Carcinoma breast carcinogenesis cancer | 343 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling. Breast cancer research and treatment:2007 | |||||
CHEK2 gene | Breast Carcinoma | 100 | heterozygous | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology:2007 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | one hundred and seventy breast/ovarian cancer | c.1100delC | BRCA1:c.598G>T (p.Glu200Ter) BRCA1:c.595G>T (p.Glu199Ter) BRCA1:c.568G>T (p.Glu190Ter) BRCA1:c.565G>T (p.Glu189Ter) BRCA1:c.544G>T (p.Glu182Ter) BRCA1:c.475G>T (p.Glu159Ter) BRCA1:c.1580_1584CTAAT[1] (p.Leu529Tyrfs) BRCA1:c.1577_1581CTAAT[1] (p.Leu528Tyrfs) BRCA2:c.6468_6469del (p.Gln2157fs) BRCA2:c.6124C>T (p.Gln2042Ter) BRCA2:c.8487+1G>A BRCA2:c.8961_8964del (p.Ser2988fs) BRCA1:c.999dup (p.Phe334Ilefs) BRCA1:c.1236dup (p.Phe413Ilefs) BRCA1:c.876dup (p.Phe293Ilefs) BRCA1:c.492dup (p.Phe165Ilefs) BRCA1:c.1380dup (p.Phe461Ilefs) BRCA1:c.1380dup (p.Phe461fs) BRCA1:c.1239dup (p.Phe414fs) BRCA1:c.787+593dup BRCA1:c.225T>G (p.Tyr75Ter) BRCA1:c.162T>G (p.Tyr54Ter) BRCA1:c.303T>G (p.Tyr101Ter) BRCA1:c.133delC (p.Gln45Asnfs) BRCA1:c.304delC (p.Gln102Asnfs) BRCA1:c.514delC (p.Gln172Asnfs) BRCA1:c.514del (p.Gln172fs) BRCA1:c.373del (p.Gln125fs) TP53:c.484G>T (p.Glu162Ter) TP53:c.763G>T (p.Glu255Ter) TP53:c.403G>T (p.Glu135Ter) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Annals of oncology : official journal of the European Society for Medical Oncology:2007 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 64 | c.1100delC | BRCA2:c.1929del (p.Arg645fs) BRCA2:c.755_758del (p.Asp252fs) BRCA2:c.6944_6947del (p.Ile2315fs) BRCA2:c.1395A>C (p.Val465=) BRCA2:c.26del (p.Pro9fs) BRCA2:c.6079dup (p.Arg2027fs) BRCA2:c.7166del (p.Arg2389fs) BRCA2:c.671A>T (p.Asp224Val) BRCA2:c.7166del (p.Arg2389LysfsTer5) BRCA2:c.8020_8021del (p.Lys2674AspfsTer6) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | BRCA1/2 mutation analysis in male breast cancer families from North West England. Familial cancer:2008 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer | p.Arg406His c.1217G>A p.Glu84Glu c.252A>G c.IVS2+1G>A p.Ser428Phe p.Ile157Thr c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.252A>G (p.Glu84=) CHEK2:c.-526A>G (n.-526A>G) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1073G>A (p.Arg358His) BRCA1:c.953G>A (p.Arg318His) BRCA1:c.926G>A (p.Arg309His) BRCA1:c.4766G>A (p.Arg1589His) BRCA1:c.4625G>A (p.Arg1542His) BRCA1:c.1454G>A (p.Arg485His) BRCA1:c.4829G>A (p.Arg1610His) BRCA1:c.980G>A (p.Ser327Asn) BRCA1:c.1217G>A (p.Ser406Asn) BRCA1:c.857G>A (p.Ser286Asn) BRCA1:c.473G>A (p.Ser158Asn) BRCA1:c.1361G>A (p.Ser454Asn) BRCA1:c.1220G>A (p.Ser407Asn) BRCA1:c.787+574G>A BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction | missense mutation | Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. BMC cancer:2008 | ||||
CHEK2 gene | Breast Carcinoma associated breast cancers | 3882 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer research:2008 | |||||
CHEK2 gene BRCA1 gene BRCA2 gene | Malignant neoplasm of prostate Breast Carcinoma Carcinoma of Male Breast breast/ovarian cancer | 102 | p.Ile157Thr c.IVS2+1G>A c.1100delC | BRCA2:c.1146A>T (p.Lys382Asn) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Breast cancer research and treatment:2008 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 493 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast cancer research and treatment:2008 | |||||
CHEK2 gene | Breast Carcinoma | 74 | p.His371Tyr c.1111C>T c.1100delC | CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. Advances in therapy:2008 | ||||
CHEK2 gene BRCA2 gene | melanoma malignant melanoma | 630 | homozygous | p.Ile157Thr c.1100delC p.Asn372His p.Asn991Asp p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA2:c.1114A>C BRCA2:c.1114A>C (p.Asn372His) BRCA2:c.2971A>G BRCA2:c.2971A>G (p.Asn991Asp) BRCA2:c.2971_2983del (p.Asn991AspfsTer3) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) | Common variants of DNA repair genes and malignant melanoma. European journal of cancer (Oxford, England : 1990):2008 | ||||
APC gene CHEK2 gene | Adenomatous Polyposis Coli Colorectal Carcinoma Breast Carcinoma cancer hereditary nonpolyposis colorectal cancer hereditary breast and colorectal cancer | 132 | 369 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. Clinical cancer research : an official journal of the American Association for Cancer Research:2008 | ||||
CHEK2 gene | Breast Carcinoma | 4441 | c.IVS2+1G>A c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clinical genetics:2009 | ||||
CHEK2 gene | Breast Carcinoma | 668 | c.*1100delC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Familial cancer:2009 | ||||
NBN gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary | 354 | heterozygous | c.657_662del c.IVS2+1G>A c.1100delC c.6174delT c.300T>G c.185delAG c.4153delA c.5382insC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.469delA (p.Ser157Alafs) BRCA1:c.760delA (p.Ser254Alafs) BRCA1:c.763delA (p.Ser255Alafs) BRCA1:c.4282del (p.Ser1428fs) BRCA1:c.4141del (p.Ser1381fs) BRCA1:c.973del (p.Ser325fs) BRCA1:c.973delA (p.Ser325Alafs) BRCA1:c.4282del | High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hereditary cancer in clinical practice:2009 | ||||
CHEK2 gene | Breast Carcinoma Li-Fraumeni Syndrome fraumeni | 65 | p.Phe328Ser c.*1100delC c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.1566C>T CHEK2:c.1695C>T (p.Pro565=) CHEK2:c.903C>T (p.Pro301=) CHEK2:c.1365C>T (p.Pro455=) CHEK2:c.1566C>T (p.Pro522=) CHEK2:c.1479C>T (p.Pro493=) CHEK2:c.782T>C (p.Phe261Ser) CHEK2:c.983T>C (p.Phe328Ser) CHEK2:c.1112T>C (p.Phe371Ser) CHEK2:c.320T>C (p.Phe107Ser) CHEK2:c.983T>C | The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hereditary cancer in clinical practice:2009 | |||||
TP53 gene ERBB2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary breast and ovarian cancer breast and hereditary cancers | 91 | c.*1100delC c.1100delC | BRCA1:c.874C>T (p.Arg292Ter) BRCA1:c.871C>T (p.Arg291Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.817C>T (p.Arg273Ter) BRCA1:c.814C>T (p.Arg272Ter) BRCA2:c.4779A>C (p.Glu1593Asp) BRCA2:c.5130_5133del (p.Asp1709_Tyr1710insTer) BRCA2:c.2538A>C (p.Ser846=) BRCA1:c.4186-10G>A BRCA1:c.4045-10G>A BRCA1:c.877-10G>A BRCA1:c.709C>T (p.Gln237Ter) BRCA1:c.706C>T (p.Gln236Ter) BRCA1:c.586C>T (p.Gln196Ter) BRCA1:c.4399C>T (p.Gln1467Ter) BRCA1:c.4258C>T (p.Gln1420Ter) BRCA1:c.1087C>T (p.Gln363Ter) BRCA1:c.4462C>T (p.Gln1488Ter) BRCA2:c.2892A>T (p.Lys964Asn) CHEK2:c.1175C>T CHEK2:c.1304C>T (p.Ala435Val) CHEK2:c.512C>T (p.Ala171Val) CHEK2:c.974C>T (p.Ala325Val) CHEK2:c.1175C>T (p.Ala392Val) CHEK2:c.1088C>T (p.Ala363Val) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A BRCA1:c.1025_1026delAT (p.Asn342Argfs) BRCA1:c.1022_1023delAT (p.Asn341Argfs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction nucleaotide-sequencing | Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. Hereditary cancer in clinical practice:2009 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 23 | c.1100delC | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1100delC CHEK2:c.1229delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC and male breast cancer in the Netherlands. Breast cancer research and treatment:2009 | |||||
CHEK2 gene BRCA2 gene | Breast Carcinoma | c.IVS2+1G>A c.1100delC p.Ile157Thr p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | ||||||
CHEK2 gene | Colorectal Carcinoma | 631 | c.1100delC p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. European journal of cancer (Oxford, England : 1990):2009 | |||||
CHEK2 gene | Breast Carcinoma | 1828 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2009 | |||||
MSH6 gene MLH1 gene MSH2 gene CHEK2 gene | Colorectal Carcinoma hereditary non-polyposis-colorectal cancer | 1 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutations and HNPCC-related colorectal cancer. International journal of cancer:2010 | ||||
CHEK2 gene | Squamous cell carcinoma of the head and neck Breast Carcinoma | 91 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | The checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN). Journal of negative results in biomedicine:2010 | ||||
PALB2 gene BRCA1 gene BRCA2 gene STK11 gene CHEK2 gene | Breast Carcinoma Peutz-Jeghers Syndrome peutz-jeghers li-fraumeni | 96 | c.1100delC | PALB2:c.2590C>T (p.Pro864Ser) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.2835-27C>T PALB2:c.2993G>A (p.Gly998Glu) PALB2:c.656A>G (p.Asp219Gly) PALB2:c.2442G>A (p.Glu814=) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) STK11:c.1185A>G (p.Thr395=) PALB2:c.3202-8G>T PALB2:c.1273G>A (p.Val425Met) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | autosomal dominant | Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genetic testing and molecular biomarkers:2010 | |||
CHEK2 gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene | Breast Carcinoma hereditary breast and colorectal cancer associated cancer hereditary non-polyposis colorectal cancer lynch syndrome | 68 | c.1100delC | MSH6:c.2633T>C (p.Val878Ala) MSH6:c.2243T>C (p.Val748Ala) MSH6:c.1727T>C (p.Val576Ala) MSH6:c.642C>T (p.Tyr214=) MSH6:c.252C>T (p.Tyr84=) MSH6:c.-265C>T MSH6:c.3246G>T (p.Pro1082=) MSH6:c.2856G>T (p.Pro952=) MSH6:c.2340G>T (p.Pro780=) MSH6:c.1508C>G (p.Ser503Cys) MSH6:c.1118C>G (p.Ser373Cys) MSH6:c.602C>G (p.Ser201Cys) MSH6:c.1508C>G MSH6:c.2775A>C (p.Gly925=) MSH6:c.2385A>C (p.Gly795=) MSH6:c.1869A>C (p.Gly623=) MSH6:c.4001+2TAAC[2] MSH6:c.3095+2TAAC[2] MSH6:c.3611+2TAAC[2] MSH6:c.4065_4066insTTGA MSH6:c.4068_4071dup (p.Lys1358delinsAspTer) MSH6:c.3678_3681dup (p.Lys1228delinsAspTer) MSH6:c.3162_3165dup (p.Lys1056delinsAspTer) MSH6:c.59C>T (p.Ala20Val) MSH6:c.-678C>T MSH6:c.73G>T (p.Ala25Ser) MSH6:c.-664G>T MSH6:c.751A>G (p.Ile251Val) MSH6:c.361A>G (p.Ile121Val) MSH6:c.-156A>G MSH6:c.2045C>T (p.Ser682Phe) MSH6:c.1655C>T (p.Ser552Phe) MSH6:c.1139C>T (p.Ser380Phe) MSH6:c.3557-4dup MSH6:c.2651-4dup MSH6:c.3167-4dup MSH6:c.1053C>T (p.His351=) MSH6:c.663C>T (p.His221=) MSH6:c.147C>T (p.His49=) MSH6:c.2775A>G (p.Gly925=) MSH6:c.2385A>G (p.Gly795=) MSH6:c.1869A>G (p.Gly623=) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Association of rare MSH6 variants with familial breast cancer. Breast cancer research and treatment:2010 | |||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 1303 | CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.1166G>T (p.Arg389Leu) CHEK2:c.374G>T (p.Arg125Leu) CHEK2:c.836G>T (p.Arg279Leu) CHEK2:c.1037G>T (p.Arg346Leu) CHEK2:c.1009-1086G>T CHEK2:c.1037G>T CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.405delA CHEK2:c.534del (p.Lys178fs) CHEK2:c.-373del CHEK2:c.405del (p.Lys135fs) CHEK2:c.1528C>T CHEK2:c.1657C>T (p.Gln553Ter) CHEK2:c.865C>T (p.Gln289Ter) CHEK2:c.1327C>T (p.Gln443Ter) CHEK2:c.1528C>T (p.Gln510Ter) CHEK2:c.1441C>T (p.Gln481Ter) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | premature stop | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast cancer research : BCR:2011 | |||||
LRP1 gene MUCL1 gene CALCOCO1 gene CLCA1 gene CHEK2 gene | Breast Carcinoma breast | 126 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | comparative genomic hybridization | premature stop | Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. Breast cancer research : BCR:2011 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma hereditary breast cancer | 507 | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 contribution to hereditary breast cancer in non-BRCA families. Breast cancer research : BCR:2011 | |||||
CHEK2 gene | Breast Carcinoma | homozygous heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. Journal of medical genetics:2011 | |||||
CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Carcinoma Malignant neoplasm of ovary Breast Carcinoma hereditary breast ovarian cancer | 100 | c.1100delC c.6589delA c.1166delG c.1938_1947_19381957del c.80+4_84del | BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA1:c.874C>T (p.Arg292Ter) BRCA1:c.871C>T (p.Arg291Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.817C>T (p.Arg273Ter) BRCA1:c.814C>T (p.Arg272Ter) BRCA1:c.2140C>T (p.Arg714Trp) BRCA1:c.2377C>T (p.Arg793Trp) BRCA1:c.2017C>T (p.Arg673Trp) BRCA1:c.1633C>T (p.Arg545Trp) BRCA1:c.2521C>T (p.Arg841Trp) BRCA1:c.2380C>T (p.Arg794Trp) BRCA1:c.787+1734C>T BRCA1:c.699_702delCTCA (p.Ser234Tyrfs) BRCA1:c.702_705delCTCA (p.Ser235Tyrfs) BRCA1:c.-73G>A BRCA1:c.116G>A (p.Cys39Tyr) BRCA1:c.-26G>A BRCA1:c.3895G>A (p.Glu1299Lys) BRCA1:c.4845+4A>C BRCA1:c.1674+4A>C BRCA1:c.4986+4A>C BRCA1:c.5049+4A>C BRCA1:c.430delG (p.Glu144Lysfs) BRCA1:c.721delG (p.Glu241Lysfs) BRCA1:c.724delG (p.Glu242Lysfs) BRCA1:c.4243delG (p.Glu1415Lysfs) BRCA1:c.4243del (p.Glu1415fs) BRCA1:c.4102del (p.Glu1368fs) BRCA1:c.934del (p.Glu312fs) BRCA1:c.934delG (p.Glu312Lysfs) BRCA2:c.7878G>C (p.Trp2626Cys) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) BRCA1:c.1933G>A (p.Asp645Asn) BRCA1:c.1573G>A (p.Asp525Asn) BRCA1:c.1189G>A (p.Asp397Asn) BRCA1:c.2077G>A (p.Asp693Asn) BRCA1:c.1936G>A (p.Asp646Asn) BRCA1:c.787+1290G>A BRCA1:c.2077G>A BRCA2:c.4928T>C (p.Val1643Ala) BRCA2:c.67+1G>T BRCA2:c.3075G>T (p.Lys1025Asn) BRCA2:c.8723T>G (p.Val2908Gly) BRCA1:c.115T>C (p.Cys39Arg) BRCA1:c.-8+8272T>C BRCA1:c.1559C>G (p.Pro520Arg) BRCA1:c.1562C>G (p.Pro521Arg) BRCA1:c.1672_1681delAGCAGTGAAG (p.Ser558Argfs) BRCA1:c.1669_1678delAGCAGTGAAG (p.Ser557Argfs) BRCA1:c.2271G>C (p.Gln757His) BRCA1:c.2711T>A (p.Leu904Ter) BRCA1:c.2708T>A (p.Leu903Ter) BRCA1:c.3037G>A (p.Val1013Ile) BRCA1:c.2653G>A (p.Val885Ile) BRCA1:c.937G>A (p.Val313Ile) BRCA1:c.3541G>A (p.Val1181Ile) BRCA1:c.3400G>A (p.Val1134Ile) BRCA1:c.788-958G>A BRCA1:c.4986+4A>T BRCA1:c.4845+4A>T BRCA1:c.1674+4A>T BRCA1:c.5049+4A>T BRCA1:c.1270_1271delTT (p.Phe424Cysfs) BRCA1:c.1243_1244delTT (p.Phe415Cysfs) BRCA1:c.847_848delTT (p.Phe283Cysfs) BRCA1:c.5083_5084delTT (p.Phe1695Cysfs) BRCA1:c.5084_5085del (p.Phe1695fs) BRCA1:c.4943_4944del (p.Phe1648fs) BRCA1:c.1772_1773del (p.Phe591fs) BRCA1:c.1771_1772delTT (p.Phe591Cysfs) BRCA1:c.5147_5148del (p.Phe1716fs) BRCA1:c.1517_1519GAG[1] (p.Gly507del) BRCA1:c.1397_1399GAG[1] (p.Gly467del) BRCA1:c.1370_1372GAG[1] (p.Gly458del) BRCA1:c.974_976GAG[1] (p.Gly326del) BRCA1:c.5210GAG[1] (p.Gly1738del) BRCA1:c.5069GAG[1] (p.Gly1691del) BRCA1:c.1898GAG[1] (p.Gly634del) BRCA1:c.1898_1900GAG[1] (p.Gly634del) BRCA1:c.5273GAG[1] (p.Gly1759del) BRCA1:c.1697G>A (p.Trp566Ter) BRCA1:c.1670G>A (p.Trp557Ter) BRCA1:c.1274G>A (p.Trp425Ter) BRCA1:c.5510G>A (p.Trp1837Ter) BRCA1:c.5369G>A (p.Trp1790Ter) BRCA1:c.2198G>A (p.Trp733Ter) BRCA1:c.*24G>A BRCA1:c.5573G>A (p.Trp1858Ter) BRCA2:c.1909+22del BRCA1:c.3233C>A (p.Thr1078Asn) BRCA1:c.2849C>A (p.Thr950Asn) BRCA1:c.1133C>A (p.Thr378Asn) BRCA1:c.3737C>A (p.Thr1246Asn) BRCA1:c.3596C>A (p.Thr1199Asn) BRCA1:c.788-762C>A BRCA1:c.4243del (p.Glu1415LysfsTer4) BRCA1:c.4102del (p.Glu1368LysfsTer4) BRCA1:c.934del (p.Glu312LysfsTer4) BRCA1:c.5084_5085del (p.Phe1695CysfsTer3) BRCA1:c.4943_4944del (p.Phe1648CysfsTer3) BRCA1:c.1772_1773del (p.Phe591CysfsTer3) BRCA1:c.5147_5148del (p.Phe1716CysfsTer3) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. Breast cancer research and treatment:2011 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma bilateral breast/ovarian cancer | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Genomic large rearrangement screening of BRCA1 and BRCA2 genes in high-risk Turkish breast/ovarian cancer patients by using multiplex ligation-dependent probe amplification assay. Cancer investigation:2011 | ||||||
CHEK2 gene | Colorectal Carcinoma | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. European journal of cancer (Oxford, England : 1990):2011 | ||||||
CHEK2 gene | Breast Carcinoma breast and ovarian cancer breast/ovarian | 284 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort. Journal of applied genetics:2011 | |||||
CHEK2 gene | Thrombocytosis Thrombocythemia, Essential myeloid and lymphoid malignancies | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. Haematologica:2012 | ||||||
CHEK2 gene | malignant melanoma | 1152 | heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | frameshift | CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. The Journal of investigative dermatology:2012 | |||
CHEK2 gene | Breast Carcinoma | 29154 | heterozygous | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls. Asian Pacific journal of cancer prevention : APJCP:2012 | ||||
CHEK2 gene | Colorectal Carcinoma | 210 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population. Cancer epidemiology:2012 | ||||
ATM gene CHEK2 gene | Breast Carcinoma Ataxia Telangiectasia hereditary breast and colorectal cancer syndrome breast and colorectal cancers breast and colorectal cancer | 59 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. Arquivos de gastroenterologia:2012 | ||||
CHEK2 gene | Breast Carcinoma breast | 155 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes. Breast cancer research and treatment:2012 | |||||
CHEK2 gene BRCA1 gene | Breast Carcinoma | 1255 | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast cancer research and treatment:2012 | ||||
CHEK2 gene | Breast Carcinoma | 25571 | heterozygous | c.*1100delC | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2012 | ||||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||||
CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary Breast Carcinoma hereditary breast and breast and | 103 | c.1100delC p.Ile1167Val | BRCA2:c.6468_6469del (p.Gln2157fs) BRCA2:c.3499A>G (p.Ile1167Val) BRCA2:c.5225_5230del (p.Asn1742_Ser1743del) BRCA2:c.5225_5230delACAGTA BRCA2:c.3900_3902del (p.Met1300_Thr1301delinsIle) BRCA2:c.8754+4A>G BRCA2:c.9382C>T (p.Arg3128Ter) BRCA2:c.4131_4132insTGAGGA (p.Thr1378Ter) BRCA1:c.3224dup (p.Gln1076Serfs) BRCA1:c.3209dup (p.Gln1071Serfs) BRCA1:c.3351dup (p.Gln1118SerfsTer4) BRCA1:c.3210dup (p.Gln1071SerfsTer4) BRCA1:c.788-1148dup (n.788-1148dup) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer. Clinical chemistry and laboratory medicine:2012 | |||||
CHEK2 gene TP53 gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene BRCA2 gene BRCA1 gene | Breast Carcinoma Papillary serous endometrial carcinoma li-fraumeni lynch lynch syndrome hereditary breast and ovarian carcinoma | 151 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C TP53:c.422G>A (p.Arg141His) TP53:c.701G>A (p.Arg234His) TP53:c.341G>A (p.Arg114His) BRCA1:c.1321C>T (p.Leu441Phe) BRCA1:c.1411C>T (p.Leu471Phe) BRCA1:c.1270C>T (p.Leu424Phe) BRCA1:c.2331delC (p.Asp777Glufs) BRCA1:c.2334delC (p.Asp778Glufs) BRCA1:c.2262delC (p.Asp754Glufs) BRCA1:c.2475delC (p.Asp825Glufs) BRCA1:c.2472delC (p.Asp824Glufs) BRCA1:c.3209C>T (p.Pro1070Leu) BRCA1:c.2825C>T (p.Pro942Leu) BRCA1:c.1109C>T (p.Pro370Leu) BRCA1:c.3713C>T (p.Pro1238Leu) BRCA1:c.3572C>T (p.Pro1191Leu) BRCA1:c.788-786C>T BRCA1:c.594-2A>C BRCA1:c.453-2A>C BRCA1:c.641A>G (p.Asp214Gly) BRCA1:c.638A>G (p.Asp213Gly) BRCA2:c.4585G>A (p.Gly1529Arg) BRCA2:c.4915G>A (p.Val1639Ile) BRCA2:c.5070A>C (p.Lys1690Asn) BRCA2:c.3569G>A (p.Arg1190Gln) BRCA2:c.6347A>G (p.His2116Arg) BRCA2:c.2960A>T (p.Asn987Ile) BRCA2:c.2960A>T BRCA2:c.4681C>A (p.His1561Asn) BRCA2:c.5635G>A (p.Glu1879Lys) BRCA2:c.6412G>T (p.Val2138Phe) BRCA2:c.673A>G (p.Thr225Ala) BRCA2:c.9816T>G (p.Asp3272Glu) BRCA1:c.1046A>G (p.His349Arg) BRCA1:c.1283A>G (p.His428Arg) BRCA1:c.923A>G (p.His308Arg) BRCA1:c.539A>G (p.His180Arg) BRCA1:c.1427A>G (p.His476Arg) BRCA1:c.1286A>G (p.His429Arg) BRCA1:c.787+640A>G BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) TP53:c.392G>A (p.Arg131His) TP53:c.869G>A TP53:c.869G>A (p.Arg290His) TP53:c.752G>A (p.Arg251His) TP53:c.473G>A (p.Arg158His) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) BRCA1:c.2353A>C (p.Lys785Gln) BRCA1:c.2590A>C (p.Lys864Gln) BRCA1:c.2230A>C (p.Lys744Gln) BRCA1:c.1846A>C (p.Lys616Gln) BRCA1:c.2734A>C (p.Lys912Gln) BRCA1:c.2593A>C (p.Lys865Gln) BRCA1:c.788-1765A>C | nucleaotide-sequencing | BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer:2013 | |||||
CHEK2 gene | Breast Carcinoma breast/ovarian cancer breast and ovarian hereditary breast/ovarian cancer | 57 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction nucleaotide-sequencing | CHEK2 1100delC and Del5395bp mutations in BRCA-negative individuals from Serbian hereditary breast and ovarian cancer families. Journal of B.U.ON. : official journal of the Balkan Union of Oncology:2013 | ||||
CHEK2 gene | Stomach Carcinoma breast and prostate cancers | 658 | p.Ile157Thr c.IVS2G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | The risk of gastric cancer in carriers of CHEK2 mutations. Familial cancer:2013 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer many breast cancers | 106 | p.Met784Val c.5382insC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA2:c.2350A>G (p.Met784Val) | Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer. Asian Pacific journal of cancer prevention : APJCP:2013 | |||||
CHEK2 gene ATM gene PALB2 gene STK11 gene PTEN gene TP53 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 7 | c.1100delC | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing sanger sequencing | Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PloS one:2013 | ||||
CHEK2 gene | Liver carcinoma | 165 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. Gene:2013 | ||||
CHEK2 gene | Breast Carcinoma breast | 2188 | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | Excess breast cancer risk in first degree relatives of CHEK21100delC positive familial breast cancer cases. European journal of cancer (Oxford, England : 1990):2013 | ||||||
MSH2 gene MLH1 gene TP53 gene | Colon Carcinoma Breast Carcinoma melanoma Glioma | 146 | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | multiplex ligation-dependent probe amplification | Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. Neuro-oncology:2014 | |||||
CDH1 gene MSH6 gene MSH2 gene MLH1 gene PALB2 gene BRIP1 gene RAD51 gene RAD50 gene NBN gene ATM gene PTEN gene CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer hereditary breast and ovarian cancer | 120 | c.1100delC p.Arg337His | BRCA2:c.2808_2811del (p.Ala938fs) BRCA2:c.5946del (p.Ser1982fs) TP53:c.614G>A (p.Arg205His) TP53:c.*117G>A TP53:c.*29G>A TP53:c.893G>A (p.Arg298His) TP53:c.533G>A (p.Arg178His) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA1:c.1573delA (p.Lys527Serfs) BRCA1:c.1810delA (p.Lys606Serfs) BRCA1:c.1450delA (p.Lys486Serfs) BRCA1:c.1066delA (p.Lys358Serfs) BRCA1:c.1954delA (p.Lys654Serfs) BRCA1:c.1961del (p.Lys654fs) BRCA1:c.1820del (p.Lys607fs) BRCA1:c.787+1174del BRCA1:c.2995_2998delAAGC (p.Gln1000Asnfs) BRCA1:c.3205_3208delAAGC (p.Gln1070Asnfs) BRCA1:c.2992_2995delAAGC (p.Gln999Asnfs) BRCA1:c.5081T>C (p.Met1694Thr) BRCA1:c.5078T>C (p.Met1693Thr) BRCA1:c.5015T>C (p.Met1672Thr) BRCA1:c.5012T>C (p.Met1671Thr) BRCA2:c.6131G>T (p.Gly2044Val) BRCA2:c.964A>C (p.Lys322Gln) BRCA2:c.10234A>G BRCA2:c.10234A>G (p.Ile3412Val) BRCA2:c.2350A>G (p.Met784Val) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) BRCA2:c.8830A>T (p.Ile2944Phe) BRCA2:c.4599A>C (p.Lys1533Asn) BRCA2:c.4681C>A (p.His1561Asn) BRCA2:c.1483G>A (p.Ala495Thr) BRCA2:c.6412G>T (p.Val2138Phe) BRCA2:c.8195T>G (p.Leu2732Ter) BRCA2:c.9085G>A (p.Ala3029Thr) BRCA2:c.9382C>T (p.Arg3128Ter) BRCA2:c.5972C>T (p.Ala1991Val) BRCA1:c.999dup (p.Phe334Ilefs) BRCA1:c.1236dup (p.Phe413Ilefs) BRCA1:c.876dup (p.Phe293Ilefs) BRCA1:c.492dup (p.Phe165Ilefs) BRCA1:c.1380dup (p.Phe461Ilefs) BRCA1:c.1380dup (p.Phe461fs) BRCA1:c.1239dup (p.Phe414fs) BRCA1:c.787+593dup BRCA1:c.188T>A (p.Leu63Ter) BRCA1:c.-188A>G BRCA1:c.-307A>G BRCA1:c.1A>G (p.Met1Val) BRCA1:c.-87A>G BRCA1:c.2020_2021TG[2] (p.Val675Glufs) BRCA1:c.2257_2258TG[2] (p.Val754Glufs) BRCA1:c.1897_1898TG[2] (p.Val634Glufs) BRCA1:c.1513_1514TG[2] (p.Val506Glufs) BRCA1:c.2401_2402TG[2] (p.Val802Glufs) BRCA1:c.2405_2406del (p.Val802fs) BRCA1:c.2264_2265del (p.Val755fs) BRCA1:c.787+1614TG[2] BRCA1:c.3136G>T (p.Glu1046Ter) BRCA1:c.2752G>T (p.Glu918Ter) BRCA1:c.1036G>T (p.Glu346Ter) BRCA1:c.3640G>T (p.Glu1214Ter) BRCA1:c.3499G>T (p.Glu1167Ter) BRCA1:c.788-859G>T BRCA1:c.3207A>G (p.Ile1069Met) BRCA1:c.2823A>G (p.Ile941Met) BRCA1:c.1107A>G (p.Ile369Met) BRCA1:c.3711A>G (p.Ile1237Met) BRCA1:c.3570A>G (p.Ile1190Met) BRCA1:c.788-788A>G BRCA1:c.529A>G (p.Ser177Gly) BRCA1:c.820A>G (p.Ser274Gly) BRCA1:c.823A>G (p.Ser275Gly) BRCA1:c.4342A>G (p.Ser1448Gly) BRCA1:c.4201A>G (p.Ser1401Gly) BRCA1:c.1033A>G (p.Ser345Gly) BRCA1:c.300+2T>A BRCA1:c.441+2T>A BRCA1:c.4738+1G>A BRCA1:c.4675+1G>A BRCA1:c.4534+1G>A BRCA1:c.1363+1G>A BRCA1:c.1015_1019delCTCTT (p.Phe340Terfs) BRCA1:c.895_899delCTCTT (p.Phe300Terfs) BRCA1:c.868_872delCTCTT (p.Phe291Terfs) BRCA1:c.4708_4712delCTCTT (p.Phe1571Terfs) BRCA1:c.4712_4716del (p.Leu1570_Phe1571insTer) BRCA1:c.4571_4575del (p.Leu1523_Phe1524insTer) BRCA1:c.1400_1404del (p.Leu466_Phe467insTer) BRCA1:c.1396_1400delCTCTT (p.Phe467Terfs) BRCA1:c.4775_4779del (p.Leu1591_Phe1592insTer) BRCA1:c.1318G>A (p.Ala440Thr) BRCA1:c.1294G>A (p.Ala432Thr) BRCA1:c.1288G>A (p.Ala430Thr) BRCA1:c.1270G>A (p.Ala424Thr) BRCA1:c.1267G>A (p.Ala423Thr) BRCA1:c.1601C>A (p.Ala534Glu) BRCA1:c.1598C>A (p.Ala533Glu) BRCA1:c.1574C>A (p.Ala525Glu) BRCA1:c.1568C>A (p.Ala523Glu) BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.1631G>A (p.Trp544Ter) BRCA1:c.1604G>A (p.Trp535Ter) BRCA1:c.1208G>A (p.Trp403Ter) BRCA1:c.5444G>A (p.Trp1815Ter) BRCA1:c.5303G>A (p.Trp1768Ter) BRCA1:c.2132G>A (p.Trp711Ter) BRCA1:c.2058G>A (p.Leu686_Asp687=) BRCA1:c.5507G>A (p.Trp1836Ter) BRCA1:c.3116T>A (p.Leu1039Ter) BRCA1:c.3257T>A (p.Leu1086Ter) BRCA1:c.788-1242T>A BRCA1:c.2876T>G (p.Leu959Ter) BRCA1:c.3113T>G (p.Leu1038Ter) BRCA1:c.2753T>G (p.Leu918Ter) BRCA1:c.2369T>G (p.Leu790Ter) BRCA1:c.3257T>G (p.Leu1086Ter) BRCA1:c.3116T>G (p.Leu1039Ter) BRCA1:c.788-1242T>G BRCA1:c.855C>A (p.Tyr285Ter) BRCA1:c.858C>A (p.Tyr286Ter) BRCA1:c.852C>A (p.Tyr284Ter) BRCA2:c.9481A>T (p.Lys3161Ter) BRCA1:c.1270_1271delTT (p.Phe424Cysfs) BRCA1:c.1243_1244delTT (p.Phe415Cysfs) BRCA1:c.847_848delTT (p.Phe283Cysfs) BRCA1:c.5083_5084delTT (p.Phe1695Cysfs) BRCA1:c.5084_5085del (p.Phe1695fs) BRCA1:c.4943_4944del (p.Phe1648fs) BRCA1:c.1772_1773del (p.Phe591fs) BRCA1:c.1771_1772delTT (p.Phe591Cysfs) BRCA1:c.5147_5148del (p.Phe1716fs) BRCA2:c.1096T>G (p.Leu366Val) BRCA2:c.7469T>C (p.Ile2490Thr) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) TP53:c.31G>A (p.Val11Met) TP53:c.310G>A (p.Val104Met) TP53:c.-51G>A TP53:c.427G>A BRCA1:c.946A>T (p.Lys316Ter) BRCA1:c.1183A>T (p.Lys395Ter) BRCA1:c.823A>T (p.Lys275Ter) BRCA1:c.439A>T (p.Lys147Ter) BRCA1:c.1327A>T (p.Lys443Ter) BRCA1:c.1186A>T (p.Lys396Ter) BRCA1:c.787+540A>T BRCA1:c.4675+2T>G BRCA1:c.4534+2T>G BRCA1:c.1363+2T>G BRCA1:c.4738+2T>G BRCA1:c.1363+2T>C BRCA1:c.4675+2T>C BRCA1:c.4534+2T>C BRCA1:c.4738+2T>C BRCA2:c.6550C>T (p.Gln2184Ter) BRCA2:c.4698C>T (p.Thr1566=) BRCA2:c.4740_4741dup (p.Glu1581fs) BRCA2:c.1324T>G (p.Ser442Ala) BRCA2:c.2266C>T (p.Gln756Ter) BRCA2:c.6014_6017del (p.Asp2005fs) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) BRCA2:c.4962T>A (p.Cys1654Ter) BRCA2:c.1370A>G (p.Lys457Arg) BRCA1:c.5316_5317insT (p.His1773Serfs) BRCA1:c.5127_5128insT (p.His1710Serfs) BRCA1:c.5124_5125insT (p.His1709Serfs) BRCA1:c.5082_5083insT (p.His1695Serfs) BRCA1:c.5079_5080insT (p.His1694Serfs) BRCA1:c.5076_5077insT (p.His1693Serfs) BRCA1:c.4075T>C (p.Ser1359Pro) BRCA1:c.4072T>C (p.Ser1358Pro) BRCA1:c.2359T>C (p.Ser787Pro) BRCA1:c.2356T>C (p.Ser786Pro) BRCA1:c.1720T>C (p.Ser574Pro) BRCA1:c.1717T>C (p.Ser573Pro) BRCA1:c.1654T>C (p.Ser552Pro) BRCA1:c.787+540A>T (n.787+540A>T) BRCA1:c.4712_4716del (p.Phe1571Ter) BRCA1:c.4571_4575del (p.Phe1524Ter) BRCA1:c.1400_1404del (p.Phe467Ter) BRCA1:c.4775_4779del (p.Phe1592Ter) BRCA1:c.5463_5464insT (p.His1822SerfsTer8) BRCA1:c.5322_5323insT (p.His1775SerfsTer8) BRCA1:c.2151_2152insT (p.His718SerfsTer8) BRCA1:c.2077_2078insT (p.Pro693LeufsTer13) BRCA1:c.5526_5527insT (p.His1843SerfsTer8) BRCA2:c.6014_6017del (p.Asp2005ValfsTer?) ATM:c.1010G>A (p.Arg337His) | nucleaotide-sequencing multiplex ligation-dependent probe amplification comparative genomic hybridization | point mutation splice site mutation | Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC medical genetics:2014 | |||
CHEK2 gene | Breast Carcinoma | 420 | p.Ile157Thr c.1100delC | CHEK2:c.1008+1G>C CHEK2:c.807+1G>C CHEK2:c.345+1G>C CHEK2:c.1137+1G>C CHEK2:c.1489_1490insCA (p.Glu497fs) CHEK2:c.697_698insCA (p.Glu233fs) CHEK2:c.1159_1160insCA (p.Glu387fs) CHEK2:c.1360_1361insCA (p.Glu454fs) CHEK2:c.1273_1274insCA (p.Glu425fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.1259+1G>C CHEK2:c.1172+1G>C CHEK2:c.1058+1G>C CHEK2:c.596+1G>C CHEK2:c.1388+1G>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.58C>T CHEK2:c.58C>T (p.Gln20Ter) CHEK2:c.-720C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.1260-1G>A CHEK2:c.1173-1G>A CHEK2:c.1059-1G>A CHEK2:c.597-1G>A CHEK2:c.1389-1G>A CHEK2:c.1140C>A (p.Tyr380Ter) CHEK2:c.348C>A (p.Tyr116Ter) CHEK2:c.810C>A (p.Tyr270Ter) CHEK2:c.1011C>A (p.Tyr337Ter) CHEK2:c.1009-1112C>A CHEK2:c.1011C>A CHEK2:c.902delT CHEK2:c.1031del (p.Leu344fs) CHEK2:c.239del (p.Leu80fs) CHEK2:c.701del (p.Leu234fs) CHEK2:c.902del (p.Leu301fs) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.790_793dup (p.Met265fs) CHEK2:c.-3_1dup (p.Met1fs) CHEK2:c.661_664dup (p.Met222fs) CHEK2:c.482+5469_482+5472dup CHEK2:c.661_664dupATCA CHEK2:c.655delG CHEK2:c.784del (p.Glu262fs) CHEK2:c.-9del CHEK2:c.655del (p.Glu219fs) CHEK2:c.482+5463del CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T CHEK2:c.846+1G>C CHEK2:c.645+1G>C CHEK2:c.183+1G>C CHEK2:c.975+1G>C CHEK2:c.792+2T>C CHEK2:c.591+2T>C CHEK2:c.129+2T>C CHEK2:c.921+2T>C CHEK2:c.1232G>A CHEK2:c.1361G>A (p.Trp454Ter) CHEK2:c.569G>A (p.Trp190Ter) CHEK2:c.1031G>A (p.Trp344Ter) CHEK2:c.1232G>A (p.Trp411Ter) CHEK2:c.1145G>A (p.Trp382Ter) CHEK2:c.372delC CHEK2:c.501del (p.Phe168fs) CHEK2:c.-406del CHEK2:c.372del (p.Phe125fs) CHEK2:c.276dupC CHEK2:c.276dup (p.Trp93fs) CHEK2:c.-502dup CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CHEK2:c.1376-1G>A CHEK2:c.1289-1G>A CHEK2:c.1175-1G>A CHEK2:c.713-1G>A CHEK2:c.1505-1G>A CHEK2:c.1375+1_1375+2delGT CHEK2:c.1288+1_1288+2del CHEK2:c.1174+1_1174+2del CHEK2:c.1375+1_1375+2del CHEK2:c.712+1_712+2del CHEK2:c.1504+1_1504+2del CHEK2:c.1315C>T CHEK2:c.1444C>T (p.Gln482Ter) CHEK2:c.652C>T (p.Gln218Ter) CHEK2:c.1114C>T (p.Gln372Ter) CHEK2:c.1315C>T (p.Gln439Ter) CHEK2:c.1228C>T (p.Gln410Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.920delG CHEK2:c.1049del (p.Gly350fs) CHEK2:c.257del (p.Gly86fs) CHEK2:c.719del (p.Gly240fs) CHEK2:c.920del (p.Gly307fs) CHEK2:c.875_876delTT CHEK2:c.1004_1005del (p.Phe334_Phe335insTer) CHEK2:c.212_213del (p.Phe70_Phe71insTer) CHEK2:c.674_675del (p.Phe224_Phe225insTer) CHEK2:c.875_876del (p.Phe291_Phe292insTer) CHEK2:c.876dupT CHEK2:c.1005dup (p.Asp336Ter) CHEK2:c.213dup (p.Asp72Ter) CHEK2:c.675dup (p.Asp226Ter) CHEK2:c.876dup (p.Asp293Ter) CHEK2:c.304G>T CHEK2:c.304G>T (p.Gly102Ter) CHEK2:c.-474G>T CHEK2:c.14_20delCGGATGT CHEK2:c.14_20del (p.Ser5fs) CHEK2:c.-764_-758del CHEK2:c.1201C>T (p.Gln401Ter) CHEK2:c.409C>T (p.Gln137Ter) CHEK2:c.871C>T (p.Gln291Ter) CHEK2:c.1072C>T (p.Gln358Ter) CHEK2:c.1009-1051C>T CHEK2:c.1072C>T CHEK2:c.683+1G>C CHEK2:c.482+5492G>C CHEK2:c.20+1G>C CHEK2:c.812+1G>C CHEK2:c.606delT CHEK2:c.735del (p.Phe245fs) CHEK2:c.-58del CHEK2:c.606del (p.Phe202fs) CHEK2:c.482+5414del CHEK2:c.507delT CHEK2:c.636del (p.Phe212fs) CHEK2:c.-271del CHEK2:c.507del (p.Phe169fs) CHEK2:c.445-139del CHEK2:c.1462-1G>A CHEK2:c.1375-1G>A CHEK2:c.1261-1G>A CHEK2:c.799-1G>A CHEK2:c.1591-1G>A CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.783_784delAA CHEK2:c.912_913del (p.Glu306fs) CHEK2:c.120_121del (p.Glu42fs) CHEK2:c.582_583del (p.Glu196fs) CHEK2:c.783_784del (p.Glu263fs) CHEK2:c.673dupA CHEK2:c.802dup (p.Thr268fs) CHEK2:c.10dup (p.Thr4fs) CHEK2:c.673dup (p.Thr225fs) CHEK2:c.482+5477dup CHEK2:c.31dupC CHEK2:c.31dup (p.Gln11fs) CHEK2:c.-747dup CHEK2:c.444+2T>C CHEK2:c.-334+2T>C CHEK2:c.573+2T>C CHEK2:c.282delT CHEK2:c.282del (p.Arg95fs) CHEK2:c.-496del CHEK2:c.1009-2A>G CHEK2:c.1009-1116A>G CHEK2:c.808-2A>G CHEK2:c.346-2A>G CHEK2:c.1138-2A>G CHEK2:c.417C>A CHEK2:c.546C>A (p.Tyr182Ter) CHEK2:c.-361C>A CHEK2:c.417C>A (p.Tyr139Ter) CHEK2:c.1259+2delT CHEK2:c.1172+2del CHEK2:c.1058+2del CHEK2:c.1259+2del CHEK2:c.596+2del CHEK2:c.1388+2del CHEK2:c.870del CHEK2:c.999del (p.Phe335fs) CHEK2:c.207del (p.Phe71fs) CHEK2:c.669del (p.Phe225fs) CHEK2:c.870del (p.Phe292fs) CHEK2:c.366delA CHEK2:c.495del (p.Glu165fs) CHEK2:c.-412del CHEK2:c.366del (p.Glu122fs) CHEK2:c.247C>T CHEK2:c.247C>T (p.Gln83Ter) CHEK2:c.-531C>T CHEK2:c.219_223delTATTC CHEK2:c.219_223del (p.Ser73_Ile74insTer) CHEK2:c.-564TATTC[1] CHEK2:c.109_119delGGCATATCCAG CHEK2:c.109_119del (p.Gly37fs) CHEK2:c.-669_-659del CHEK2:c.762delG CHEK2:c.891del (p.Lys298fs) CHEK2:c.99del (p.Lys34fs) CHEK2:c.561del (p.Lys188fs) CHEK2:c.762del (p.Lys255fs) CHEK2:c.326_327delTG CHEK2:c.455_456del (p.Val152fs) CHEK2:c.-456TG[2] CHEK2:c.326_327del (p.Val109fs) CHEK2:c.1163_1164dup CHEK2:c.1292_1293dup (p.Thr432fs) CHEK2:c.500_501dup (p.Thr168fs) CHEK2:c.962_963dup (p.Thr322fs) CHEK2:c.1163_1164dup (p.Thr389fs) CHEK2:c.1076_1077dup (p.Thr360fs) CHEK2:c.1008+1G>T CHEK2:c.807+1G>T CHEK2:c.345+1G>T CHEK2:c.1137+1G>T CHEK2:c.319+1G>C CHEK2:c.-459+1G>C CHEK2:c.616_617delGT CHEK2:c.745_746del (p.Val249fs) CHEK2:c.-48_-47del CHEK2:c.616_617del (p.Val206fs) CHEK2:c.482+5424_482+5425del CHEK2:c.529A>T CHEK2:c.658A>T (p.Lys220Ter) CHEK2:c.-249A>T CHEK2:c.529A>T (p.Lys177Ter) CHEK2:c.445-117A>T CHEK2:c.793-2A>G CHEK2:c.592-2A>G CHEK2:c.130-2A>G CHEK2:c.922-2A>G CHEK2:c.792+1G>A CHEK2:c.591+1G>A CHEK2:c.129+1G>A CHEK2:c.921+1G>A CHEK2:c.757A>T CHEK2:c.886A>T (p.Lys296Ter) CHEK2:c.94A>T (p.Lys32Ter) CHEK2:c.556A>T (p.Lys186Ter) CHEK2:c.757A>T (p.Lys253Ter) CHEK2:c.1375+2T>A CHEK2:c.1288+2T>A CHEK2:c.1174+2T>A CHEK2:c.712+2T>A CHEK2:c.1504+2T>A CHEK2:c.151C>T CHEK2:c.151C>T (p.Gln51Ter) CHEK2:c.-627C>T CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1443_1444delAA CHEK2:c.1572_1573del (p.Arg525fs) CHEK2:c.780_781del (p.Arg261fs) CHEK2:c.1242_1243del (p.Arg415fs) CHEK2:c.1443_1444del (p.Arg482fs) CHEK2:c.1356_1357del (p.Arg453fs) CHEK2:c.1063delC CHEK2:c.1192del (p.Leu398fs) CHEK2:c.400del (p.Leu134fs) CHEK2:c.862del (p.Leu288fs) CHEK2:c.1063del (p.Leu355fs) CHEK2:c.1009-1060del CHEK2:c.468C>A CHEK2:c.597C>A (p.Tyr199Ter) CHEK2:c.-310C>A CHEK2:c.468C>A (p.Tyr156Ter) CHEK2:c.444+142C>A CHEK2:c.1096-1G>T CHEK2:c.1009-1G>T CHEK2:c.895-1G>T CHEK2:c.433-1G>T CHEK2:c.1225-1G>T CHEK2:c.448delG CHEK2:c.577del (p.Val193fs) CHEK2:c.-330del CHEK2:c.448del (p.Val150fs) CHEK2:c.444+122del CHEK2:c.292delG CHEK2:c.292del (p.Ala98fs) CHEK2:c.-486del CHEK2:c.1096delA CHEK2:c.1225del (p.Ile409fs) CHEK2:c.433del (p.Ile145fs) CHEK2:c.895del (p.Ile299fs) CHEK2:c.1096del (p.Ile366fs) CHEK2:c.1009del (p.Ile337fs) CHEK2:c.836delA CHEK2:c.965del (p.Lys322fs) CHEK2:c.173del (p.Lys58fs) CHEK2:c.635del (p.Lys212fs) CHEK2:c.836del (p.Lys279fs) CHEK2:c.1454G>A CHEK2:c.1583G>A (p.Trp528Ter) CHEK2:c.791G>A (p.Trp264Ter) CHEK2:c.1253G>A (p.Trp418Ter) CHEK2:c.1454G>A (p.Trp485Ter) CHEK2:c.1367G>A (p.Trp456Ter) CHEK2:c.1188_1194dupTGTTTCT CHEK2:c.1317_1323dup (p.Val442fs) CHEK2:c.525_531dup (p.Val178fs) CHEK2:c.987_993dup (p.Val332fs) CHEK2:c.1188_1194dup (p.Val399fs) CHEK2:c.1101_1107dup (p.Val370fs) CHEK2:c.1022delA CHEK2:c.1151del (p.Asn384fs) CHEK2:c.359del (p.Asn120fs) CHEK2:c.821del (p.Asn274fs) CHEK2:c.1022del (p.Asn341fs) CHEK2:c.1009-1101del CHEK2:c.683+2T>C CHEK2:c.482+5493T>C CHEK2:c.20+2T>C CHEK2:c.812+2T>C CHEK2:c.383delC CHEK2:c.512del (p.Pro171fs) CHEK2:c.-395del CHEK2:c.383del (p.Pro128fs) CHEK2:c.161_164delACTC CHEK2:c.161_164del (p.His54fs) CHEK2:c.-617_-614del CHEK2:c.1007delA CHEK2:c.1136del (p.Gln379fs) CHEK2:c.344del (p.Gln115fs) CHEK2:c.806del (p.Gln269fs) CHEK2:c.1007del (p.Gln336fs) CHEK2:c.1114del (p.Tyr372fs) CHEK2:c.322del (p.Tyr108fs) CHEK2:c.784del (p.Tyr262fs) CHEK2:c.985del (p.Tyr329fs) CHEK2:c.985delT CHEK2:c.908+1_908+8delinsTT CHEK2:c.707+1_707+8delinsTT CHEK2:c.245+1_245+8delinsTT CHEK2:c.1037+1_1037+8delinsTT CHEK2:c.1347delT CHEK2:c.1476del (p.Glu493fs) CHEK2:c.684del (p.Glu229fs) CHEK2:c.1146del (p.Glu383fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.1260del (p.Glu421fs) CHEK2:c.1335_1336delCAinsAC CHEK2:c.1464_1465delinsAC (p.Tyr488_Asn489delinsTer) CHEK2:c.672_673delinsAC (p.Tyr224_Asn225delinsTer) CHEK2:c.1134_1135delinsAC (p.Tyr378_Asn379delinsTer) CHEK2:c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) CHEK2:c.1248_1249delinsAC (p.Tyr416_Asn417delinsTer) CHEK2:c.1049delC CHEK2:c.1178del (p.Pro393fs) CHEK2:c.386del (p.Pro129fs) CHEK2:c.848del (p.Pro283fs) CHEK2:c.1049del (p.Pro350fs) CHEK2:c.1009-1074del CHEK2:c.1019_1034del CHEK2:c.1148_1163del (p.Glu383fs) CHEK2:c.356_371del (p.Glu119fs) CHEK2:c.818_833del (p.Glu273fs) CHEK2:c.1019_1034del (p.Glu340fs) CHEK2:c.1009-1104_1009-1089del CHEK2:c.990del CHEK2:c.1119del (p.Met374fs) CHEK2:c.327del (p.Met110fs) CHEK2:c.789del (p.Met264fs) CHEK2:c.990del (p.Met331fs) CHEK2:c.655G>T CHEK2:c.784G>T (p.Glu262Ter) CHEK2:c.-9G>T CHEK2:c.655G>T (p.Glu219Ter) CHEK2:c.482+5463G>T CHEK2:c.537C>A (p.Tyr179Ter) CHEK2:c.-370C>A CHEK2:c.408C>A (p.Tyr136Ter) CHEK2:c.408C>A CHEK2:c.269delC CHEK2:c.269del (p.Pro90fs) CHEK2:c.-509del CHEK2:c.181delA CHEK2:c.181del (p.Ser61fs) CHEK2:c.-597del CHEK2:c.78_85delCCAGTCCC CHEK2:c.78_85del (p.Gln27fs) CHEK2:c.-700_-693del CHEK2:c.-747C>T CHEK2:c.31C>T (p.Gln11Ter) CHEK2:c.31C>T CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C CHEK2:c.319+1G>T CHEK2:c.-459+1G>T CHEK2:c.592+1G>A CHEK2:c.445-53G>A CHEK2:c.-186+1G>A CHEK2:c.721+1G>A CHEK2:c.1461+2delT CHEK2:c.1374+2del CHEK2:c.1260+2del CHEK2:c.1461+2del CHEK2:c.798+2del CHEK2:c.1590+2del CHEK2:c.1260-24_1263delCTTTCTCTCTCTACCAATATTAAGCCTT CHEK2:c.1173-24_1176del CHEK2:c.1059-24_1062del CHEK2:c.1260-24_1263del CHEK2:c.597-24_600del CHEK2:c.1389-24_1392del CHEK2:c.1344delT CHEK2:c.1473del (p.Pro492fs) CHEK2:c.681del (p.Pro228fs) CHEK2:c.1143del (p.Pro382fs) CHEK2:c.1344del (p.Pro449fs) CHEK2:c.1257del (p.Pro420fs) CHEK2:c.1334dupA CHEK2:c.1463dup (p.Tyr488Ter) CHEK2:c.671dup (p.Tyr224Ter) CHEK2:c.1133dup (p.Tyr378Ter) CHEK2:c.1334dup (p.Tyr445Ter) CHEK2:c.1247dup (p.Tyr416Ter) CHEK2:c.696dupA CHEK2:c.825dup (p.Glu276fs) CHEK2:c.33dup (p.Glu12fs) CHEK2:c.495dup (p.Glu166fs) CHEK2:c.696dup (p.Glu233fs) CHEK2:c.673delA CHEK2:c.802del (p.Thr268fs) CHEK2:c.10del (p.Thr4fs) CHEK2:c.673del (p.Thr225fs) CHEK2:c.482+5481del CHEK2:c.360delC CHEK2:c.489del (p.Cys164fs) CHEK2:c.-418del CHEK2:c.360del (p.Cys121fs) CHEK2:c.1288+1G>C CHEK2:c.1174+1G>C CHEK2:c.1375+1G>C CHEK2:c.712+1G>C CHEK2:c.1504+1G>C CHEK2:c.908+2T>C CHEK2:c.707+2T>C CHEK2:c.245+2T>C CHEK2:c.1037+2T>C CHEK2:c.1118dup CHEK2:c.1247dup (p.Ile417fs) CHEK2:c.455dup (p.Ile153fs) CHEK2:c.917dup (p.Ile307fs) CHEK2:c.1118dup (p.Ile374fs) CHEK2:c.1031dup (p.Ile345fs) CHEK2:c.948del CHEK2:c.1077del (p.Asn359fs) CHEK2:c.285del (p.Asn95fs) CHEK2:c.747del (p.Asn249fs) CHEK2:c.948del (p.Asn316fs) CHEK2:c.581del (p.Gly194fs) CHEK2:c.-326del CHEK2:c.452del (p.Gly151fs) CHEK2:c.444+126del CHEK2:c.452del CHEK2:c.397del CHEK2:c.526del (p.Thr176fs) CHEK2:c.-381del CHEK2:c.397del (p.Thr133fs) CHEK2:c.305del CHEK2:c.305del (p.Gly102fs) CHEK2:c.-473del CHEK2:c.291G>A CHEK2:c.291G>A (p.Trp97Ter) CHEK2:c.-487G>A CHEK2:c.234_262del CHEK2:c.234_262del (p.Gln78fs) CHEK2:c.-544_-516del CHEK2:c.199del CHEK2:c.199del (p.Ser67fs) CHEK2:c.-579del CHEK2:c.183del (p.Ser62fs) CHEK2:c.-595del CHEK2:c.183del CHEK2:c.1260-1G>T CHEK2:c.1173-1G>T CHEK2:c.1059-1G>T CHEK2:c.597-1G>T CHEK2:c.1389-1G>T CHEK2:c.1172T>G (p.Leu391Ter) CHEK2:c.380T>G (p.Leu127Ter) CHEK2:c.842T>G (p.Leu281Ter) CHEK2:c.1043T>G (p.Leu348Ter) CHEK2:c.1009-1080T>G CHEK2:c.1043T>G CHEK2:c.1430del CHEK2:c.1559del (p.Thr520fs) CHEK2:c.767del (p.Thr256fs) CHEK2:c.1430del (p.Thr477fs) CHEK2:c.1343del (p.Thr448fs) CHEK2:c.1371_1372del CHEK2:c.1500_1501del (p.Lys501fs) CHEK2:c.708_709del (p.Lys237fs) CHEK2:c.1170_1171del (p.Lys391fs) CHEK2:c.1371_1372del (p.Lys458fs) CHEK2:c.1284_1285del (p.Lys429fs) CHEK2:c.906del CHEK2:c.1035del (p.Glu345fs) CHEK2:c.243del (p.Glu81fs) CHEK2:c.705del (p.Glu235fs) CHEK2:c.906del (p.Glu302fs) CHEK2:c.842dup CHEK2:c.971dup (p.Asn324fs) CHEK2:c.179dup (p.Asn60fs) CHEK2:c.641dup (p.Asn214fs) CHEK2:c.842dup (p.Asn281fs) CHEK2:c.806_807del CHEK2:c.935_936del (p.Asn312fs) CHEK2:c.143_144del (p.Asn48fs) CHEK2:c.605_606del (p.Asn202fs) CHEK2:c.806_807del (p.Asn269fs) CHEK2:c.543_549del CHEK2:c.672_678del (p.Pro225fs) CHEK2:c.-235_-229del CHEK2:c.543_549del (p.Pro182fs) CHEK2:c.445-103_445-97del CHEK2:c.467dup CHEK2:c.596dup (p.Tyr199Ter) CHEK2:c.-311dup CHEK2:c.467dup (p.Tyr156Ter) CHEK2:c.444+141dup CHEK2:c.1419dup (p.Arg474Ter) CHEK2:c.627dup (p.Arg210Ter) CHEK2:c.1089dup (p.Arg364Ter) CHEK2:c.1290dup (p.Arg431Ter) CHEK2:c.1203dup (p.Arg402Ter) CHEK2:c.1290dup CHEK2:c.776del CHEK2:c.905del (p.Gly302fs) CHEK2:c.113del (p.Gly38fs) CHEK2:c.575del (p.Gly192fs) CHEK2:c.776del (p.Gly259fs) CHEK2:c.321_324del CHEK2:c.450_453del (p.Lys150_Cys151insTer) CHEK2:c.-457_-454del CHEK2:c.321_324del (p.Glu107_Cys108insTer) CHEK2:c.1485G>A CHEK2:c.1356G>A CHEK2:c.1485G>A (p.Trp495Ter) CHEK2:c.693G>A (p.Trp231Ter) CHEK2:c.1155G>A (p.Trp385Ter) CHEK2:c.1356G>A (p.Trp452Ter) CHEK2:c.1269G>A (p.Trp423Ter) CHEK2:c.1193del CHEK2:c.1322del (p.Ser441fs) CHEK2:c.530del (p.Ser177fs) CHEK2:c.992del (p.Ser331fs) CHEK2:c.1193del (p.Ser398fs) CHEK2:c.1106del (p.Ser369fs) CHEK2:c.1074del (p.Asn359fs) CHEK2:c.282del (p.Asn95fs) CHEK2:c.744del (p.Asn249fs) CHEK2:c.945del (p.Asn316fs) CHEK2:c.945del CHEK2:c.636T>G CHEK2:c.765T>G (p.Tyr255Ter) CHEK2:c.-28T>G CHEK2:c.636T>G (p.Tyr212Ter) CHEK2:c.482+5444T>G CHEK2:c.938del CHEK2:c.1067del (p.Val356fs) CHEK2:c.275del (p.Val92fs) CHEK2:c.737del (p.Val246fs) CHEK2:c.938del (p.Val313fs) CHEK2:c.684-2A>T CHEK2:c.483-2A>T CHEK2:c.21-2A>T CHEK2:c.813-2A>T CHEK2:c.1288+2T>C CHEK2:c.1174+2T>C CHEK2:c.1375+2T>C CHEK2:c.712+2T>C CHEK2:c.1504+2T>C CHEK2:c.847-12_847-2del CHEK2:c.646-12_646-2del CHEK2:c.184-12_184-2del CHEK2:c.976-12_976-2del CHEK2:c.593-2A>G CHEK2:c.482+5399A>G CHEK2:c.-71-2A>G CHEK2:c.722-2A>G CHEK2:c.1561G>T (p.Glu521Ter) CHEK2:c.769G>T (p.Glu257Ter) CHEK2:c.1231G>T (p.Glu411Ter) CHEK2:c.1432G>T (p.Glu478Ter) CHEK2:c.1345G>T (p.Glu449Ter) CHEK2:c.1549del (p.Arg517fs) CHEK2:c.757del (p.Arg253fs) CHEK2:c.1219del (p.Arg407fs) CHEK2:c.1420del (p.Arg474fs) CHEK2:c.1333del (p.Arg445fs) CHEK2:c.1461del (p.Lys487fs) CHEK2:c.669del (p.Lys223fs) CHEK2:c.1131del (p.Lys377fs) CHEK2:c.1332del (p.Lys444fs) CHEK2:c.1245del (p.Lys415fs) CHEK2:c.1375dup (p.Ile459fs) CHEK2:c.583dup (p.Ile195fs) CHEK2:c.1045dup (p.Ile349fs) CHEK2:c.1246dup (p.Ile416fs) CHEK2:c.1159dup (p.Ile387fs) CHEK2:c.1097_1098del (p.Thr366fs) CHEK2:c.305_306del (p.Thr102fs) CHEK2:c.767_768del (p.Thr256fs) CHEK2:c.968_969del (p.Thr323fs) CHEK2:c.959T>A (p.Leu320Ter) CHEK2:c.167T>A (p.Leu56Ter) CHEK2:c.629T>A (p.Leu210Ter) CHEK2:c.830T>A (p.Leu277Ter) CHEK2:c.916G>T (p.Glu306Ter) CHEK2:c.124G>T (p.Glu42Ter) CHEK2:c.586G>T (p.Glu196Ter) CHEK2:c.787G>T (p.Glu263Ter) CHEK2:c.879del (p.Ile294fs) CHEK2:c.87del (p.Ile30fs) CHEK2:c.549del (p.Ile184fs) CHEK2:c.750del (p.Ile251fs) CHEK2:c.847del (p.Arg283fs) CHEK2:c.55del (p.Arg19fs) CHEK2:c.517del (p.Arg173fs) CHEK2:c.718del (p.Arg240fs) CHEK2:c.793_805del (p.Met265fs) CHEK2:c.1_13del (p.Met1fs) CHEK2:c.664_676del (p.Met222fs) CHEK2:c.482+5472_482+5484del CHEK2:c.792_793insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met265fs) CHEK2:c.-1_1insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met1fs) CHEK2:c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) CHEK2:c.482+5471_482+5472insAAGAGATGAATACATCGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAA CHEK2:c.787dup (p.Tyr263fs) CHEK2:c.-6dup CHEK2:c.658dup (p.Tyr220fs) CHEK2:c.482+5466dup CHEK2:c.677del (p.Pro225_Leu226insTer) CHEK2:c.-230del CHEK2:c.548del (p.Pro182_Leu183insTer) CHEK2:c.445-98del CHEK2:c.674dup (p.Leu226fs) CHEK2:c.-233dup CHEK2:c.545dup (p.Leu183fs) CHEK2:c.445-102dup CHEK2:c.600del (p.Ile200fs) CHEK2:c.-307del CHEK2:c.471del (p.Ile157fs) CHEK2:c.444+145del CHEK2:c.478del (p.Arg160fs) CHEK2:c.-429del CHEK2:c.349del (p.Arg117fs) CHEK2:c.82del (p.Ser28fs) CHEK2:c.-696del CHEK2:c.55del (p.Ser19fs) CHEK2:c.-723del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.895-2A>G CHEK2:c.1096-2A>G CHEK2:c.433-2A>G CHEK2:c.1225-2A>G CHEK2:c.903_908+26del CHEK2:c.702_707+26del CHEK2:c.240_245+26del CHEK2:c.1032_1037+26del CHEK2:c.624_625insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn209fs) CHEK2:c.-298_-283AGA[2]TCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC[1] CHEK2:c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) CHEK2:c.445-151_445-150insAGAAGATCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAA CHEK2:c.1252_1253del (p.Leu418fs) CHEK2:c.460_461del (p.Leu154fs) CHEK2:c.922_923del (p.Leu308fs) CHEK2:c.1123_1124del (p.Leu375fs) CHEK2:c.1036_1037del (p.Leu346fs) CHEK2:c.1143_1165dup (p.Arg389fs) CHEK2:c.351_373dup (p.Arg125fs) CHEK2:c.813_835dup (p.Arg279fs) CHEK2:c.1014_1036dup (p.Arg346fs) CHEK2:c.1009-1109_1009-1087dup CHEK2:c.633del (p.Phe212fs) CHEK2:c.-274del CHEK2:c.504del (p.Phe169fs) CHEK2:c.445-142del CHEK2:c.676_677del (p.Leu226fs) CHEK2:c.-231_-230del CHEK2:c.547_548del (p.Leu183fs) CHEK2:c.445-99_445-98del CHEK2:c.6_10delTCGGG CHEK2:c.6_10del (p.Arg3fs) CHEK2:c.-772_-768del CHEK2:c.445-8_446del CHEK2:c.444+111_444+120del CHEK2:c.-333-8_-332del CHEK2:c.574-8_575del CHEK2:c.1021del (p.Tyr341fs) CHEK2:c.229del (p.Tyr77fs) CHEK2:c.691del (p.Tyr231fs) CHEK2:c.892del (p.Tyr298fs) CHEK2:c.1338_1362dup (p.Ser455delinsValTer) CHEK2:c.546_570dup (p.Ser191delinsValTer) CHEK2:c.1008_1032dup (p.Ser345delinsValTer) CHEK2:c.1209_1233dup (p.Ser412delinsValTer) CHEK2:c.1122_1146dup (p.Ser383delinsValTer) CHEK2:c.320-2A>G CHEK2:c.-458-2A>G CHEK2:c.449-2A>G CHEK2:c.1159del (p.Ile387fs) CHEK2:c.367del (p.Ile123fs) CHEK2:c.829del (p.Ile277fs) CHEK2:c.1030del (p.Ile344fs) CHEK2:c.1009-1093del CHEK2:c.46_61del (p.Ser16fs) CHEK2:c.-732_-717del CHEK2:c.1443del (p.Gln482fs) CHEK2:c.651del (p.Gln218fs) CHEK2:c.1113del (p.Gln372fs) CHEK2:c.1314del (p.Gln439fs) CHEK2:c.1227del (p.Gln410fs) CHEK2:c.94del (p.Ser32fs) CHEK2:c.-684del CHEK2:c.408C>G CHEK2:c.537C>G (p.Tyr179Ter) CHEK2:c.-370C>G CHEK2:c.408C>G (p.Tyr136Ter) CHEK2:c.1464C>A (p.Tyr488Ter) CHEK2:c.672C>A (p.Tyr224Ter) CHEK2:c.1134C>A (p.Tyr378Ter) CHEK2:c.1335C>A (p.Tyr445Ter) CHEK2:c.1248C>A (p.Tyr416Ter) CHEK2:c.16delG CHEK2:c.16del (p.Asp6fs) CHEK2:c.-762del CHEK2:c.1190T>A (p.Leu397Ter) CHEK2:c.398T>A (p.Leu133Ter) CHEK2:c.860T>A (p.Leu287Ter) CHEK2:c.1061T>A (p.Leu354Ter) CHEK2:c.1009-1062T>A CHEK2:c.492T>A (p.Cys164Ter) CHEK2:c.-415T>A CHEK2:c.363T>A (p.Cys121Ter) CHEK2:c.1009-1026T>C CHEK2:c.894+2T>C CHEK2:c.1095+2T>C CHEK2:c.432+2T>C CHEK2:c.1224+2T>C CHEK2:c.205C>T CHEK2:c.205C>T (p.Gln69Ter) CHEK2:c.-573C>T CHEK2:c.1337delA CHEK2:c.1466del (p.Asn489fs) CHEK2:c.674del (p.Asn225fs) CHEK2:c.1136del (p.Asn379fs) CHEK2:c.1337del (p.Asn446fs) CHEK2:c.1250del (p.Asn417fs) CHEK2:c.894T>G CHEK2:c.1023T>G (p.Tyr341Ter) CHEK2:c.231T>G (p.Tyr77Ter) CHEK2:c.693T>G (p.Tyr231Ter) CHEK2:c.894T>G (p.Tyr298Ter) CHEK2:c.876delT CHEK2:c.1005del (p.Phe335fs) CHEK2:c.213del (p.Phe71fs) CHEK2:c.675del (p.Phe225fs) CHEK2:c.876del (p.Phe292fs) CHEK2:c.1459C>T CHEK2:c.1588C>T (p.Gln530Ter) CHEK2:c.796C>T (p.Gln266Ter) CHEK2:c.1258C>T (p.Gln420Ter) CHEK2:c.1459C>T (p.Gln487Ter) CHEK2:c.1372C>T (p.Gln458Ter) CHEK2:c.1188delT CHEK2:c.1317del (p.Val440fs) CHEK2:c.525del (p.Val176fs) CHEK2:c.987del (p.Val330fs) CHEK2:c.1188del (p.Val397fs) CHEK2:c.1101del (p.Val368fs) CHEK2:c.847-1G>A CHEK2:c.646-1G>A CHEK2:c.184-1G>A CHEK2:c.976-1G>A CHEK2:c.683+1G>A CHEK2:c.482+5492G>A CHEK2:c.20+1G>A CHEK2:c.812+1G>A CHEK2:c.902T>A CHEK2:c.1031T>A (p.Leu344Ter) CHEK2:c.239T>A (p.Leu80Ter) CHEK2:c.701T>A (p.Leu234Ter) CHEK2:c.902T>A (p.Leu301Ter) CHEK2:c.860delA CHEK2:c.989del (p.Lys330fs) CHEK2:c.197del (p.Lys66fs) CHEK2:c.659del (p.Lys220fs) CHEK2:c.860del (p.Lys287fs) CHEK2:c.823delG CHEK2:c.952del (p.Glu318fs) CHEK2:c.160del (p.Glu54fs) CHEK2:c.622del (p.Glu208fs) CHEK2:c.823del (p.Glu275fs) CHEK2:c.28C>T CHEK2:c.28C>T (p.Gln10Ter) CHEK2:c.-750C>T CHEK2:c.1164dupC CHEK2:c.1293dup (p.Thr432fs) CHEK2:c.501dup (p.Thr168fs) CHEK2:c.963dup (p.Thr322fs) CHEK2:c.1164dup (p.Thr389fs) CHEK2:c.1077dup (p.Thr360fs) CHEK2:c.1259+1G>T CHEK2:c.1172+1G>T CHEK2:c.1058+1G>T CHEK2:c.596+1G>T CHEK2:c.1388+1G>T CHEK2:c.846+1G>A CHEK2:c.645+1G>A CHEK2:c.183+1G>A CHEK2:c.975+1G>A CHEK2:c.232C>T CHEK2:c.232C>T (p.Gln78Ter) CHEK2:c.-546C>T CHEK2:c.1240G>T CHEK2:c.1369G>T (p.Gly457Ter) CHEK2:c.577G>T (p.Gly193Ter) CHEK2:c.1039G>T (p.Gly347Ter) CHEK2:c.1240G>T (p.Gly414Ter) CHEK2:c.1153G>T (p.Gly385Ter) CHEK2:c.152_155dup CHEK2:c.152_155dup (p.Ser53fs) CHEK2:c.-626_-623dup CHEK2:c.577_578delCT CHEK2:c.706_707del (p.Leu236fs) CHEK2:c.-201_-200del CHEK2:c.577_578del (p.Leu193fs) CHEK2:c.445-69_445-68del CHEK2:c.1451delC CHEK2:c.1580del (p.Pro527fs) CHEK2:c.788del (p.Pro263fs) CHEK2:c.1250del (p.Pro417fs) CHEK2:c.1451del (p.Pro484fs) CHEK2:c.1364del (p.Pro455fs) CHEK2:c.1008+2T>G CHEK2:c.807+2T>G CHEK2:c.345+2T>G CHEK2:c.1137+2T>G CHEK2:c.133delA CHEK2:c.133del (p.Thr45fs) CHEK2:c.-645del CHEK2:c.319+1G>A CHEK2:c.-459+1G>A CHEK2:c.433delC CHEK2:c.562del (p.Arg188fs) CHEK2:c.-345del CHEK2:c.433del (p.Arg145fs) CHEK2:c.893_897delATATT CHEK2:c.1022_1026del (p.Tyr341fs) CHEK2:c.230_234del (p.Tyr77fs) CHEK2:c.692_696del (p.Tyr231fs) CHEK2:c.893_897del (p.Tyr298fs) CHEK2:c.1564G>T (p.Glu522Ter) CHEK2:c.772G>T (p.Glu258Ter) CHEK2:c.1234G>T (p.Glu412Ter) CHEK2:c.1435G>T (p.Glu479Ter) CHEK2:c.1348G>T (p.Glu450Ter) CHEK2:c.1435G>T CHEK2:c.909-1G>A CHEK2:c.708-1G>A CHEK2:c.246-1G>A CHEK2:c.1038-1G>A CHEK2:c.1209_1233del CHEK2:c.1338_1362del (p.Tyr447fs) CHEK2:c.546_570del (p.Tyr183fs) CHEK2:c.1008_1032del (p.Tyr337fs) CHEK2:c.1209_1233del (p.Tyr404fs) CHEK2:c.1122_1146del (p.Tyr375fs) CHEK2:c.606dup CHEK2:c.735dup (p.Asp246Ter) CHEK2:c.-58dup CHEK2:c.606dup (p.Asp203Ter) CHEK2:c.482+5409dup CHEK2:c.735dupT CHEK2:c.100C>T CHEK2:c.100C>T (p.Gln34Ter) CHEK2:c.-678C>T CHEK2:c.1461+1G>T CHEK2:c.1374+1G>T CHEK2:c.1260+1G>T CHEK2:c.798+1G>T CHEK2:c.1590+1G>T CHEK2:c.706delC CHEK2:c.835del (p.Leu279fs) CHEK2:c.43del (p.Leu15fs) CHEK2:c.505del (p.Leu169fs) CHEK2:c.706del (p.Leu236fs) CHEK2:c.1009-1G>A CHEK2:c.1009-1115G>A CHEK2:c.808-1G>A CHEK2:c.346-1G>A CHEK2:c.1138-1G>A CHEK2:c.1108dup (p.Tyr370fs) CHEK2:c.316dup (p.Tyr106fs) CHEK2:c.778dup (p.Tyr260fs) CHEK2:c.979dup (p.Tyr327fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) CHEK2:c.79C>T CHEK2:c.79C>T (p.Gln27Ter) CHEK2:c.-699C>T CHEK2:c.118_133delAGCTCCTCTACCAGCA CHEK2:c.118_133del (p.Ser40fs) CHEK2:c.-660_-645del CHEK2:c.1465G>T CHEK2:c.1594G>T (p.Glu532Ter) CHEK2:c.802G>T (p.Glu268Ter) CHEK2:c.1264G>T (p.Glu422Ter) CHEK2:c.1465G>T (p.Glu489Ter) CHEK2:c.1378G>T (p.Glu460Ter) CHEK2:c.400_401del CHEK2:c.529_530del (p.Thr176_Asp177insTer) CHEK2:c.-378_-377del CHEK2:c.400_401del (p.Thr133_Asp134insTer) CHEK2:c.621delT CHEK2:c.750del (p.Asp250fs) CHEK2:c.-43del CHEK2:c.621del (p.Asp207fs) CHEK2:c.482+5429del CHEK2:c.792_792+1delAG CHEK2:c.792_792+1del CHEK2:c.591_591+1del CHEK2:c.129_129+1del CHEK2:c.921_921+1del CHEK2:c.1095+2T>G CHEK2:c.1009-1026T>G CHEK2:c.894+2T>G CHEK2:c.432+2T>G CHEK2:c.1224+2T>G CHEK2:c.988C>T CHEK2:c.1117C>T (p.Gln373Ter) CHEK2:c.325C>T (p.Gln109Ter) CHEK2:c.787C>T (p.Gln263Ter) CHEK2:c.988C>T (p.Gln330Ter) CHEK2:c.445-2A>G CHEK2:c.444+117A>G CHEK2:c.-333-2A>G CHEK2:c.574-2A>G CHEK2:c.575C>A CHEK2:c.704C>A (p.Ser235Ter) CHEK2:c.-203C>A CHEK2:c.575C>A (p.Ser192Ter) CHEK2:c.445-71C>A CHEK2:c.252del (p.Glu84fs) CHEK2:c.-526del CHEK2:c.252del CHEK2:c.605_606delTT CHEK2:c.734_735del (p.Phe244_Phe245insTer) CHEK2:c.-59_-58del CHEK2:c.605_606del (p.Phe201_Phe202insTer) CHEK2:c.482+5413_482+5414del CHEK2:c.578del (p.Val193fs) CHEK2:c.-329del CHEK2:c.449del (p.Val150fs) CHEK2:c.444+123del CHEK2:c.449del CHEK2:c.1375+1G>A CHEK2:c.1288+1G>A CHEK2:c.1174+1G>A CHEK2:c.712+1G>A CHEK2:c.1504+1G>A CHEK2:c.1230C>A CHEK2:c.1359C>A (p.Cys453Ter) CHEK2:c.567C>A (p.Cys189Ter) CHEK2:c.1029C>A (p.Cys343Ter) CHEK2:c.1230C>A (p.Cys410Ter) CHEK2:c.1143C>A (p.Cys381Ter) CHEK2:c.995del CHEK2:c.1124del (p.Leu375fs) CHEK2:c.332del (p.Leu111fs) CHEK2:c.794del (p.Leu265fs) CHEK2:c.995del (p.Leu332fs) CHEK2:c.989del CHEK2:c.1118del (p.Gln373fs) CHEK2:c.326del (p.Gln109fs) CHEK2:c.788del (p.Gln263fs) CHEK2:c.989del (p.Gln330fs) CHEK2:c.763A>T CHEK2:c.892A>T (p.Lys298Ter) CHEK2:c.100A>T (p.Lys34Ter) CHEK2:c.562A>T (p.Lys188Ter) CHEK2:c.763A>T (p.Lys255Ter) CHEK2:c.788_791del (p.Tyr263fs) CHEK2:c.-5_-2del CHEK2:c.659_662del (p.Tyr220fs) CHEK2:c.482+5467_482+5470del CHEK2:c.659_662del CHEK2:c.194_195del CHEK2:c.194_195del (p.Thr65fs) CHEK2:c.-584_-583del CHEK2:c.159_160del CHEK2:c.159_160del (p.His54fs) CHEK2:c.-621TC[1] CHEK2:c.1400del CHEK2:c.1529del (p.Leu510fs) CHEK2:c.737del (p.Leu246fs) CHEK2:c.1199del (p.Leu400fs) CHEK2:c.1400del (p.Leu467fs) CHEK2:c.1313del (p.Leu438fs) CHEK2:c.1489_1490del (p.Glu497fs) CHEK2:c.697_698del (p.Glu233fs) CHEK2:c.1159_1160del (p.Glu387fs) CHEK2:c.1360_1361del (p.Glu454fs) CHEK2:c.1273_1274del (p.Glu425fs) CHEK2:c.1360_1361del CHEK2:c.1067C>G CHEK2:c.1196C>G (p.Ser399Ter) CHEK2:c.404C>G (p.Ser135Ter) CHEK2:c.866C>G (p.Ser289Ter) CHEK2:c.1067C>G (p.Ser356Ter) CHEK2:c.1009-1056C>G CHEK2:c.186del CHEK2:c.186del (p.Ser62_Leu63insTer) CHEK2:c.-592del CHEK2:c.444_444+1del CHEK2:c.-334_-334+1del CHEK2:c.573_573+1del CHEK2:c.792+2T>G CHEK2:c.591+2T>G CHEK2:c.129+2T>G CHEK2:c.921+2T>G CHEK2:c.1348G>T CHEK2:c.1477G>T (p.Glu493Ter) CHEK2:c.685G>T (p.Glu229Ter) CHEK2:c.1147G>T (p.Glu383Ter) CHEK2:c.1261G>T (p.Glu421Ter) CHEK2:c.1210_1219del CHEK2:c.1339_1348del (p.Tyr447fs) CHEK2:c.547_556del (p.Tyr183fs) CHEK2:c.1009_1018del (p.Tyr337fs) CHEK2:c.1210_1219del (p.Tyr404fs) CHEK2:c.1123_1132del (p.Tyr375fs) CHEK2:c.870_871insCTAC CHEK2:c.999_1000insCTAC (p.Phe334fs) CHEK2:c.207_208insCTAC (p.Phe70fs) CHEK2:c.669_670insCTAC (p.Phe224fs) CHEK2:c.870_871insCTAC (p.Phe291fs) CHEK2:c.862_865del (p.Lys287_Lys288insTer) CHEK2:c.70_73del (p.Lys23_Lys24insTer) CHEK2:c.532_535del (p.Lys177_Lys178insTer) CHEK2:c.733_736del (p.Lys244_Lys245insTer) CHEK2:c.733_736del CHEK2:c.267_268insT CHEK2:c.267_268insT (p.Pro90fs) CHEK2:c.-511_-510insT CHEK2:c.98C>A CHEK2:c.98C>A (p.Ser33Ter) CHEK2:c.-680C>A CHEK2:c.733A>T CHEK2:c.862A>T (p.Lys288Ter) CHEK2:c.70A>T (p.Lys24Ter) CHEK2:c.532A>T (p.Lys178Ter) CHEK2:c.733A>T (p.Lys245Ter) CHEK2:c.209_216del (p.Glu70fs) CHEK2:c.-569_-562del CHEK2:c.209_216del CHEK2:c.684-5_684-2delinsC CHEK2:c.483-5_483-2delinsC CHEK2:c.21-5_21-2delinsC CHEK2:c.813-5_813-2delinsC CHEK2:c.1210_1211insTT CHEK2:c.1339_1340insTT (p.Tyr447fs) CHEK2:c.547_548insTT (p.Tyr183fs) CHEK2:c.1009_1010insTT (p.Tyr337fs) CHEK2:c.1210_1211insTT (p.Tyr404fs) CHEK2:c.1123_1124insTT (p.Tyr375fs) CHEK2:c.726_727del CHEK2:c.855_856del (p.Thr285_Cys286insTer) CHEK2:c.63_64del (p.Thr21_Cys22insTer) CHEK2:c.525_526del (p.Thr175_Cys176insTer) CHEK2:c.726_727del (p.Thr242_Cys243insTer) CHEK2:c.666del (p.Lys222fs) CHEK2:c.-241del CHEK2:c.537del (p.Lys179fs) CHEK2:c.445-109del CHEK2:c.537del CHEK2:c.597C>G CHEK2:c.468C>G CHEK2:c.597C>G (p.Tyr199Ter) CHEK2:c.-310C>G CHEK2:c.444+142C>G CHEK2:c.803_804del CHEK2:c.932_933del (p.Leu311fs) CHEK2:c.140_141del (p.Leu47fs) CHEK2:c.602_603del (p.Leu201fs) CHEK2:c.803_804del (p.Leu268fs) CHEK2:c.792+2T>A CHEK2:c.591+2T>A CHEK2:c.129+2T>A CHEK2:c.921+2T>A CHEK2:c.1050del CHEK2:c.1179del (p.Glu394fs) CHEK2:c.387del (p.Glu130fs) CHEK2:c.849del (p.Glu284fs) CHEK2:c.1050del (p.Glu351fs) CHEK2:c.1009-1073del CHEK2:c.1092del (p.Ala365fs) CHEK2:c.300del (p.Ala101fs) CHEK2:c.762del (p.Ala255fs) CHEK2:c.963del (p.Ala322fs) CHEK2:c.963del CHEK2:c.391A>T CHEK2:c.520A>T (p.Lys174Ter) CHEK2:c.-387A>T CHEK2:c.391A>T (p.Lys131Ter) CHEK2:c.64del CHEK2:c.64del (p.His22fs) CHEK2:c.-714del CHEK2:c.684-1del CHEK2:c.483-1del CHEK2:c.21-1del CHEK2:c.813-1del CHEK2:c.1584G>A (p.Trp528Ter) CHEK2:c.792G>A (p.Trp264Ter) CHEK2:c.1254G>A (p.Trp418Ter) CHEK2:c.1455G>A (p.Trp485Ter) CHEK2:c.1368G>A (p.Trp456Ter) CHEK2:c.1400T>A CHEK2:c.1529T>A (p.Leu510Ter) CHEK2:c.737T>A (p.Leu246Ter) CHEK2:c.1199T>A (p.Leu400Ter) CHEK2:c.1400T>A (p.Leu467Ter) CHEK2:c.1313T>A (p.Leu438Ter) CHEK2:c.1496C>G (p.Ser499Ter) CHEK2:c.704C>G (p.Ser235Ter) CHEK2:c.1166C>G (p.Ser389Ter) CHEK2:c.1367C>G (p.Ser456Ter) CHEK2:c.1280C>G (p.Ser427Ter) CHEK2:c.1491del (p.Val498fs) CHEK2:c.699del (p.Val234fs) CHEK2:c.1161del (p.Val388fs) CHEK2:c.1362del (p.Val455fs) CHEK2:c.1275del (p.Val426fs) CHEK2:c.1393dup (p.Ser465fs) CHEK2:c.601dup (p.Ser201fs) CHEK2:c.1063dup (p.Ser355fs) CHEK2:c.1264dup (p.Ser422fs) CHEK2:c.1177dup (p.Ser393fs) CHEK2:c.1377del (p.Leu460fs) CHEK2:c.585del (p.Leu196fs) CHEK2:c.1047del (p.Leu350fs) CHEK2:c.1248del (p.Leu417fs) CHEK2:c.1161del (p.Leu388fs) CHEK2:c.1196_1206del (p.Leu398_Ser399insTer) CHEK2:c.404_414del (p.Leu134_Ser135insTer) CHEK2:c.866_876del (p.Leu288_Ser289insTer) CHEK2:c.1067_1077del (p.Leu355_Ser356insTer) CHEK2:c.1009-1056_1009-1046del CHEK2:c.1048G>T (p.Gly350Ter) CHEK2:c.256G>T (p.Gly86Ter) CHEK2:c.718G>T (p.Gly240Ter) CHEK2:c.919G>T (p.Gly307Ter) CHEK2:c.897dup (p.Ala300fs) CHEK2:c.105dup (p.Ala36fs) CHEK2:c.567dup (p.Ala190fs) CHEK2:c.768dup (p.Ala257fs) CHEK2:c.853del (p.Thr285fs) CHEK2:c.61del (p.Thr21fs) CHEK2:c.523del (p.Thr175fs) CHEK2:c.724del (p.Thr242fs) CHEK2:c.797_798insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser266_Lys267insTer) CHEK2:c.5_6insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser2_Lys3insTer) CHEK2:c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) CHEK2:c.482+5476_482+5477insTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTCT CHEK2:c.793del (p.Met265fs) CHEK2:c.1del (p.Met1fs) CHEK2:c.664del (p.Met222fs) CHEK2:c.482+5472del CHEK2:c.631del (p.Thr211fs) CHEK2:c.-276del CHEK2:c.502del (p.Thr168fs) CHEK2:c.445-144del CHEK2:c.598del (p.Ile200fs) CHEK2:c.-309del CHEK2:c.469del (p.Ile157fs) CHEK2:c.444+143del CHEK2:c.529_532del (p.Asp177fs) CHEK2:c.-378_-375del CHEK2:c.400_403del (p.Asp134fs) CHEK2:c.488del (p.Ser163fs) CHEK2:c.-419del CHEK2:c.359del (p.Ser120fs) CHEK2:c.33del (p.Gln11fs) CHEK2:c.-745del CHEK2:c.684-2A>G CHEK2:c.483-2A>G CHEK2:c.21-2A>G CHEK2:c.813-2A>G CHEK2:c.1284T>A (p.Cys428Ter) CHEK2:c.954T>A (p.Cys318Ter) CHEK2:c.1155T>A (p.Cys385Ter) CHEK2:c.1068T>A (p.Cys356Ter) CHEK2:c.1048_1049del (p.Gly350fs) CHEK2:c.256_257del (p.Gly86fs) CHEK2:c.718_719del (p.Gly240fs) CHEK2:c.919_920del (p.Gly307fs) CHEK2:c.788_789delAG CHEK2:c.917_918del (p.Glu306fs) CHEK2:c.125_126del (p.Glu42fs) CHEK2:c.587_588del (p.Glu196fs) CHEK2:c.788_789del (p.Glu263fs) CHEK2:c.233_234del (p.Gln78fs) CHEK2:c.-545_-544del CHEK2:c.222del (p.Pro75fs) CHEK2:c.-556del CHEK2:c.106C>T CHEK2:c.106C>T (p.Gln36Ter) CHEK2:c.-672C>T CHEK2:c.41del (p.Gly14fs) CHEK2:c.-737del CHEK2:c.1330_1334del (p.Thr444fs) CHEK2:c.538_542del (p.Thr180fs) CHEK2:c.1000_1004del (p.Thr334fs) CHEK2:c.1201_1205del (p.Thr401fs) CHEK2:c.1114_1118del (p.Thr372fs) CHEK2:c.1470del (p.Phe490fs) CHEK2:c.678del (p.Phe226fs) CHEK2:c.1140del (p.Phe380fs) CHEK2:c.1341del (p.Phe447fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1306delC CHEK2:c.1435del (p.Ser478_Leu479insTer) CHEK2:c.643del (p.Ser214_Leu215insTer) CHEK2:c.1105del (p.Ser368_Leu369insTer) CHEK2:c.1306del (p.Ser435_Leu436insTer) CHEK2:c.1219del (p.Ser406_Leu407insTer) CHEK2:c.1375del (p.Ile459fs) CHEK2:c.583del (p.Ile195fs) CHEK2:c.1045del (p.Ile349fs) CHEK2:c.1246del (p.Ile416fs) CHEK2:c.1227_1237dup (p.Gly413fs) CHEK2:c.435_445dup (p.Gly149fs) CHEK2:c.897_907dup (p.Gly303fs) CHEK2:c.1098_1108dup (p.Gly370fs) CHEK2:c.1011_1021dup (p.Gly341fs) CHEK2:c.891_908+3del CHEK2:c.690_707+3del CHEK2:c.228_245+3del CHEK2:c.1020_1037+3del CHEK2:c.188del (p.Ser62_Leu63insTer) CHEK2:c.-590del CHEK2:c.903_904del (p.Ile301fs) CHEK2:c.111_112del (p.Ile37fs) CHEK2:c.573_574del (p.Ile191fs) CHEK2:c.774_775del (p.Ile258fs) CHEK2:c.1127T>A (p.Leu376Ter) CHEK2:c.335T>A (p.Leu112Ter) CHEK2:c.797T>A (p.Leu266Ter) CHEK2:c.998T>A (p.Leu333Ter) CHEK2:c.32_35del (p.Gln11fs) CHEK2:c.-746_-743del CHEK2:c.1048_1069del (p.Gly350fs) CHEK2:c.256_277del (p.Gly86fs) CHEK2:c.718_739del (p.Gly240fs) CHEK2:c.919_940del (p.Gly307fs) CHEK2:c.1175dup (p.Pro393fs) CHEK2:c.383dup (p.Pro129fs) CHEK2:c.845dup (p.Pro283fs) CHEK2:c.1046dup (p.Pro350fs) CHEK2:c.1009-1077dup CHEK2:c.1299del (p.Leu434fs) CHEK2:c.507del (p.Leu170fs) CHEK2:c.969del (p.Leu324fs) CHEK2:c.1170del (p.Leu391fs) CHEK2:c.1083del (p.Leu362fs) CHEK2:c.490del (p.Cys164fs) CHEK2:c.-417del CHEK2:c.361del (p.Cys121fs) CHEK2:c.872dup (p.Ile293fs) CHEK2:c.80dup (p.Ile29fs) CHEK2:c.542dup (p.Ile183fs) CHEK2:c.743dup (p.Ile250fs) CHEK2:c.889del (p.Arg297fs) CHEK2:c.97del (p.Arg33fs) CHEK2:c.559del (p.Arg187fs) CHEK2:c.760del (p.Arg254fs) CHEK2:c.866_911dup (p.Arg305fs) CHEK2:c.74_119dup (p.Arg41fs) CHEK2:c.536_581dup (p.Arg195fs) CHEK2:c.737_782dup (p.Arg262fs) CHEK2:c.1125_1135del (p.Leu376fs) CHEK2:c.333_343del (p.Leu112fs) CHEK2:c.795_805del (p.Leu266fs) CHEK2:c.996_1006del (p.Leu333fs) CHEK2:c.1493dup (p.Ser499fs) CHEK2:c.701dup (p.Ser235fs) CHEK2:c.1163dup (p.Ser389fs) CHEK2:c.1364dup (p.Ser456fs) CHEK2:c.1277dup (p.Ser427fs) CHEK2:c.557delA CHEK2:c.686del (p.Asn229fs) CHEK2:c.-221del CHEK2:c.557del (p.Asn186fs) CHEK2:c.445-89del CHEK2:c.1508del (p.Leu503fs) CHEK2:c.716del (p.Leu239fs) CHEK2:c.1178del (p.Leu393fs) CHEK2:c.1379del (p.Leu460fs) CHEK2:c.1292del (p.Leu431fs) CHEK2:c.1472_1473del (p.Ile491fs) CHEK2:c.680_681del (p.Ile227fs) CHEK2:c.1142_1143del (p.Ile381fs) CHEK2:c.1343_1344del (p.Ile448fs) CHEK2:c.1256_1257del (p.Ile419fs) CHEK2:c.589_617dup (p.His206delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.-318_-290dup CHEK2:c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.444+134_445-158dup CHEK2:c.577_590del (p.Val193fs) CHEK2:c.-330_-317del CHEK2:c.448_461del (p.Val150fs) CHEK2:c.444+122_444+135del CHEK2:c.471G>A (p.Trp157Ter) CHEK2:c.-436G>A CHEK2:c.342G>A (p.Trp114Ter) CHEK2:c.776dupG CHEK2:c.905dup (p.Ser303fs) CHEK2:c.113dup (p.Ser39fs) CHEK2:c.575dup (p.Ser193fs) CHEK2:c.776dup (p.Ser260fs) CHEK2:c.773del (p.Ala258fs) CHEK2:c.-20del CHEK2:c.644del (p.Ala215fs) CHEK2:c.482+5452del CHEK2:c.1009-1026T>A CHEK2:c.894+2T>A CHEK2:c.1095+2T>A CHEK2:c.432+2T>A CHEK2:c.1224+2T>A CHEK2:c.1222_1223dup (p.Ile409fs) CHEK2:c.430_431dup (p.Ile145fs) CHEK2:c.892_893dup (p.Ile299fs) CHEK2:c.1093_1094dup (p.Ile366fs) CHEK2:c.1009-1030_1009-1029dup CHEK2:c.908del (p.Gly302_Ser303insTer) CHEK2:c.116del (p.Gly38_Ser39insTer) CHEK2:c.578del (p.Gly192_Ser193insTer) CHEK2:c.779del (p.Gly259_Ser260insTer) CHEK2:c.1245del (p.Lys416fs) CHEK2:c.453del (p.Lys152fs) CHEK2:c.915del (p.Lys306fs) CHEK2:c.1116del (p.Lys373fs) CHEK2:c.1029del (p.Lys344fs) CHEK2:c.1581del (p.Trp528fs) CHEK2:c.789del (p.Trp264fs) CHEK2:c.1251del (p.Trp418fs) CHEK2:c.1452del (p.Trp485fs) CHEK2:c.1365del (p.Trp456fs) CHEK2:c.683+2T>A CHEK2:c.482+5493T>A CHEK2:c.20+2T>A CHEK2:c.812+2T>A CHEK2:c.79del (p.Gln27fs) CHEK2:c.-699del CHEK2:c.1531delG CHEK2:c.1660del (p.Val554fs) CHEK2:c.868del (p.Val290fs) CHEK2:c.1330del (p.Val444fs) CHEK2:c.1531del (p.Val511fs) CHEK2:c.1444del (p.Val482fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.607del (p.Tyr202_Ile203insTer) CHEK2:c.-300del CHEK2:c.478del (p.Tyr159_Ile160insTer) CHEK2:c.444+152del CHEK2:c.478delA CHEK2:c.56C>G (p.Ser19Ter) CHEK2:c.-722C>G CHEK2:c.56C>G CHEK2:c.269dup CHEK2:c.269dup (p.Ala91fs) CHEK2:c.-509dup CHEK2:c.597delT CHEK2:c.726del (p.Phe242fs) CHEK2:c.-67del CHEK2:c.597del (p.Phe199fs) CHEK2:c.482+5405del | premature stop missense mutation | A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. Hereditary cancer in clinical practice:2014 | ||||
CHEK2 gene | Malignant neoplasm of prostate | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 () 1100delC Mutation and Risk of Prostate Cancer. Prostate cancer:2014 | ||||||
CHEK2 gene | Malignant neoplasm of lung Breast Carcinoma | 3 | 108 | homozygous | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer. European journal of human genetics : EJHG:2014 | |||
CHEK2 gene | Papillary thyroid carcinoma Thyroid carcinoma Breast Carcinoma multi-organ cancer | 468 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop missense mutation | CHEK2 mutations and the risk of papillary thyroid cancer. International journal of cancer:2015 | ||||
CHEK2 gene PALB2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma premenopausal hereditary breast cancer | 108 | c.1100delC | BRCA2:c.5213_5216del (p.Thr1738fs) BRCA2:c.582G>A (p.Trp194Ter) BRCA2:c.4798_4800del BRCA2:c.4795AAT[1] (p.Asn1600del) BRCA2:c.5771_5774del (p.Ile1924fs) BRCA2:c.581G>A (p.Trp194Ter) BRCA2:c.7712A>G (p.Glu2571Gly) BRCA2:c.9875C>T (p.Pro3292Leu) BRCA2:c.7934del (p.Arg2645fs) BRCA1:c.71G>A (p.Arg24Lys) BRCA1:c.212G>A (p.Arg71Lys) BRCA1:c.114dup (p.Glu41Glyfs) BRCA1:c.324dup (p.Glu111Glyfs) BRCA1:c.183dup (p.Glu64Glyfs) BRCA1:c.821G>A (p.Trp274Ter) BRCA1:c.818G>A (p.Trp273Ter) BRCA1:c.1155G>A (p.Trp385Ter) BRCA1:c.1014G>A (p.Trp338Ter) BRCA1:c.787+368G>A (n.787+368G>A) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer. BMC cancer:2015 | ||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. International journal of clinical and experimental medicine:2015 | |||||
BRCA1 gene CHEK2 gene | Breast Carcinoma | 2449 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases. Cancer genetics:2015 | |||||
BRCA2 gene CHEK2 gene | Malignant neoplasm of ovary Breast Carcinoma | 134 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population. SpringerPlus:2015 | |||||
NBN gene CHEK2 gene | Breast Carcinoma | 300 | heterozygous | c.657_662del p.Arg215Trp p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) | polymerase chain reaction | Clinical relevance of CHEK2 and NBN mutations in the macedonian population. Balkan journal of medical genetics : BJMG:2015 | |||
CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Colorectal Carcinoma Breast Carcinoma hereditary breast cancer syndromes | 902 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genetics and molecular biology:2016 | |||||
CDH1 gene CHEK2 gene | Breast Carcinoma breast | 183 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium. Breast cancer research : BCR:2016 | ||||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||||
CLCN5 gene TJP2 gene BRCA1 gene VHL gene TP53 gene NRAS gene KRAS gene BRAF gene TSC2 gene KIT gene CTNNB1 gene | Liver carcinoma Solid Neoplasm | 121 | VHL:c.499C>T (p.Arg167Trp) VHL:c.376C>T VHL:c.*53C>T VHL:c.376C>T (p.Arg126Trp) SBDS:c.258+2T>C MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MYBPC3:c.1624G>C (p.Glu542Gln) TP53:c.347G>A (p.Arg116Gln) TP53:c.626G>A (p.Arg209Gln) TP53:c.266G>A (p.Arg89Gln) TP53:c.743G>A (p.Arg248Gln) TP53:c.743G>A PTPN11:c.923A>G PTPN11:c.923A>G (p.Asn308Ser) PTPN11:c.920A>G (p.Asn307Ser) PIK3CA:c.3140A>G PIK3CA:c.3140A>G (p.His1047Arg) KIT:c.2447A>T (p.Asp816Val) KIT:c.2435A>T (p.Asp812Val) KIT:c.2450A>T (p.Asp817Val) KIT:c.2444A>T (p.Asp815Val) KIT:c.2432A>T (p.Asp811Val) KIT:c.2438A>T (p.Asp813Val) KIT:c.2446G>C (p.Asp816His) KIT:c.2434G>C (p.Asp812His) KIT:c.2449G>C (p.Asp817His) KIT:c.2443G>C (p.Asp815His) KIT:c.2431G>C (p.Asp811His) KIT:c.2437G>C (p.Asp813His) CTNNB1:c.133_135del CTNNB1:c.133_135del (p.Ser45del) CTNNB1:c.112_114del (p.Ser38del) CTNNB1:c.121A>G CTNNB1:c.121A>G (p.Thr41Ala) CTNNB1:c.100A>G (p.Thr34Ala) CTNNB1:c.94G>T (p.Asp32Tyr) CTNNB1:c.73G>T (p.Asp25Tyr) CTNNB1:c.98C>T (p.Ser33Phe) CTNNB1:c.77C>T (p.Ser26Phe) CTNNB1:c.101G>A (p.Gly34Glu) CTNNB1:c.80G>A (p.Gly27Glu) CTNNB1:c.134C>T (p.Ser45Phe) CTNNB1:c.113C>T (p.Ser38Phe) BRCA1:c.1119_1123delTAAAT (p.Leu375Alafs) BRCA1:c.1356_1360delTAAAT (p.Leu454Alafs) BRCA1:c.996_1000delTAAAT (p.Leu334Alafs) BRCA1:c.612_616delTAAAT (p.Leu206Alafs) BRCA1:c.1500_1504delTAAAT (p.Leu502Alafs) BRCA1:c.1504_1508del (p.Leu502fs) BRCA1:c.1363_1367del (p.Leu455fs) BRCA1:c.787+717_787+721del BRCA1:c.315_316delTG (p.Val106Asnfs) BRCA1:c.312_313delTG (p.Val105Asnfs) BRCA1:c.552_553delTG (p.Val185Asnfs) BRCA1:c.192_193delTG (p.Val65Asnfs) BRCA1:c.-193_-192delTG BRCA1:c.696_697delTG (p.Val233Asnfs) PTPN11:c.1520G>T (p.Gly507Val) PTPN11:c.1505G>T (p.Gly502Val) PTPN11:c.1508G>T (p.Gly503Val) BRCA2:c.1278del (p.Asp427fs) SCN5A:c.3908C>T (p.Thr1303Met) SCN5A:c.3911C>T (p.Thr1304Met) SCN5A:c.3749C>T (p.Thr1250Met) MED12:c.130G>A MED12:c.130G>A (p.Gly44Ser) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) MED12:c.131G>A MED12:c.131G>A (p.Gly44Asp) FANCL:c.1141_1144dup (p.Thr382fs) FANCL:c.1096_1099dup (p.Thr367fs) FANCL:c.*102_*105dup FANCL:c.*487_*490dup FGFR1:c.1632C>A (p.Asn544Lys) FGFR1:c.1371C>A (p.Asn457Lys) FGFR1:c.1731C>A (p.Asn577Lys) FGFR1:c.1359C>A (p.Asn453Lys) FGFR1:c.1626C>A (p.Asn542Lys) FGFR1:c.1365C>A (p.Asn455Lys) FGFR1:c.1638C>A (p.Asn546Lys) DICER1:c.2062C>T (p.Arg688Ter) BCOR:c.3883_3884delAG BCOR:c.3781_3782del (p.Leu1262fs) BCOR:c.3727_3728del (p.Leu1244fs) BCOR:c.3883_3884del (p.Leu1296fs) CTNNB1:c.98C>G (p.Ser33Cys) CTNNB1:c.77C>G (p.Ser26Cys) PPP1R1A:c.372_373delinsCA PPP1R1A:c.372_373delinsCA (p.Glu124_Ser125delinsAspThr) DIS3L2:c.2381_2382del (p.Arg794fs) DIS3L2:c.1582-8623_1582-8622del CTNNB1:c.84_95del (p.Gln28_Asp32delinsHis) CTNNB1:c.63_74del (p.Gln21_Asp25delinsHis) KIT:c.2851_2852dup (p.Val951_Asp952insTer) KIT:c.2839_2840dup (p.Val947_Asp948insTer) KIT:c.2854_2855dup (p.Val952_Asp953insTer) KIT:c.2848_2849dup (p.Val950_Asp951insTer) KIT:c.2836_2837dup (p.Val946_Asp947insTer) KIT:c.2842_2843dup (p.Val948_Asp949insTer) BRCA1:c.-240_-238delAGT BRCA1:c.-121_-119delAGT BRCA1:c.-352_-350delAGT BRCA1:c.68_70delAGT (p.Glu23_Cys24delinsGly) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) DDX3X:c.1588G>T (p.Gly530Cys) DDX3X:c.1540G>T (p.Gly514Cys) DDX3X:c.1030G>T (p.Gly344Cys) FGFR3:c.991T>C (p.Phe331Leu) FGFR3:c.1082-578T>C FGFR3:c.931-1072T>C FZD6:c.346C>T FZD6:c.346C>T (p.Arg116Ter) FZD6:c.250C>T (p.Arg84Ter) FZD6:c.33-6296C>T MAP2K7:c.800T>C (p.Leu267Pro) MAP2K7:c.752T>C (p.Leu251Pro) NF2:c.575A>G (p.Tyr192Cys) NF2:c.449A>G (p.Tyr150Cys) NF2:c.452A>G (p.Tyr151Cys) NF2:c.326A>G (p.Tyr109Cys) NF2:c.447+13367A>G PHF6:c.119C>A (p.Ala40Glu) KRAS:c.194G>T (p.Ser65Ile) KRAS:c.194G>T BUB1B:c.1648C>T (p.Arg550Ter) ALDH4A1:c.866+1G>A ALDH4A1:c.686+1G>A MSH2:c.1697del (p.Asn566fs) MSH2:c.1697delA MSH2:c.1499del (p.Asn500fs) WRAP53:c.1564dup (p.Ala522fs) DSG2:c.523+1G>C FANCC:c.1663C>T FANCC:c.1663C>T (p.Arg555Ter) RNF216:c.2468G>A (p.Arg823His) RNF216:c.2297G>A (p.Arg766His) RNF216:c.2297G>A TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C MSH2:c.1692_1693del (p.Lys565_Asn566insTer) MSH2:c.1494_1495del (p.Lys499_Asn500insTer) TJP2:c.744_745del (p.Ala250fs) TJP2:c.825_826del (p.Ala277fs) TJP2:c.906_907del (p.Ala304fs) TJP2:c.813_814del (p.Ala273fs) BRCA1:c.193_195delGTA (p.Val65del) BRCA1:c.487_489delGTA (p.Val163del) BRCA1:c.697_699delGTA (p.Val233del) BRCA1:c.697_699del (p.Val233del) BRCA1:c.556_558del (p.Val186del) MN1:c.912GCA[5] (p.Gln309del) ARID1B:c.3465+1G>A ARID1B:c.3594+1G>A ARID1B:c.3714+1G>A ARID1B:c.3555+1G>A ARID1B:c.1215+1G>A DDX3X:c.1033G>C (p.Val345Leu) DDX3X:c.985G>C (p.Val329Leu) DDX3X:c.475G>C (p.Val159Leu) H3-3A:c.103G>A (p.Gly35Arg) JAK2:c.2798C>A (p.Pro933Gln) JAK2:c.1583C>A (p.Pro528Gln) JAK2:c.2351C>A (p.Pro784Gln) MAP2K4:c.571C>G (p.Leu191Val) MAP2K4:c.538C>G (p.Leu180Val) MET:c.985C>A (p.Leu329Ile) MET:c.-91+27492C>A NTRK2:c.970T>A (p.Leu324Met) NTRK2:c.931T>A (p.Leu311Met) NTRK2:c.502T>A (p.Leu168Met) PRKAR1A:c.329C>T PRKAR1A:c.329C>T (p.Ala110Val) RBM15:c.1912C>A (p.Gln638Lys) SET:c.740A>G (p.Glu247Gly) SET:c.674A>G (p.Glu225Gly) SET:c.668A>G (p.Glu223Gly) SET:c.701A>G (p.Glu234Gly) TNFRSF17:c.524C>T (p.Thr175Met) TSC2:c.3284+1G>T TSC2:c.3155+1G>T TSC2:c.3152+1G>T TSC2:c.3044+1G>T TSC2:c.2552+1G>T TSC2:c.3008+1G>T TSC2:c.3185+1G>T PSAP:c.1378G>T (p.Glu460Ter) PSAP:c.1375G>T (p.Glu459Ter) PSAP:c.1369G>T (p.Glu457Ter) SET:c.816dup (p.Asp273fs) SET:c.750dup (p.Asp251fs) SET:c.744dup (p.Asp249fs) SET:c.777dup (p.Asp260fs) WT1:c.879_881delCTA (p.Tyr294del) WT1:c.756_758delCTA (p.Tyr253del) WT1:c.117_119delCTA (p.Tyr40del) WT1:c.880_882del (p.Tyr294del) WT1:c.864_866delCTA (p.Tyr289del) SMARCA4:c.1155_1157del (p.Glu386del) ARID1A:c.6259G>A (p.Gly2087Arg) ARID1A:c.5608G>A (p.Gly1870Arg) BRCA2:c.1075G>A (p.Glu359Lys) FOXO3:c.699G>A (p.Trp233Ter) NSD1:c.7147G>T (p.Gly2383Cys) NSD1:c.6727G>T (p.Gly2243Cys) NSD1:c.6394G>T (p.Gly2132Cys) NSD1:c.6385G>T (p.Gly2129Cys) NSD1:c.6274G>T (p.Gly2092Cys) NSD1:c.6025G>T (p.Gly2009Cys) NSD1:c.6340G>T (p.Gly2114Cys) PRCC:c.908C>T (p.Pro303Leu) RNF213:c.12841C>T (p.Arg4281Trp) SMARCA4:c.2729C>T (p.Thr910Met) SMARCA4:c.2729C>T TET2:c.4456T>C (p.Ser1486Pro) BRCA2:c.1273_1274del (p.Glu425fs) TSC2:c.2764_2765del (p.Leu922fs) TSC2:c.2653_2654del (p.Leu885fs) TSC2:c.2617_2618del (p.Leu873fs) TSC2:c.2164_2165del (p.Leu722fs) TSC2:c.2797_2798del (p.Leu933fs) NONO:c.731dup (p.Asn244fs) NONO:c.464dup (p.Asn155fs) ARID1A:c.2732G>T (p.Arg911Met) CTNNB1:c.1374A>C (p.Glu458Asp) CTNNB1:c.1353A>C (p.Glu451Asp) CTNNB1:c.770C>T (p.Thr257Ile) CTNNB1:c.749C>T (p.Thr250Ile) DDX3X:c.1592G>A (p.Arg531His) DDX3X:c.1544G>A (p.Arg515His) DDX3X:c.1034G>A (p.Arg345His) FOXO3:c.583A>T (p.Lys195Ter) MED12:c.5980C>T (p.Arg1994Trp) CLCN5:c.1466G>A (p.Trp489Ter) CLCN5:c.1676G>A (p.Trp559Ter) CLCN5:c.1526G>A (p.Trp509Ter) BRCA1:c.854A>G (p.His285Arg) BRCA1:c.851A>G (p.His284Arg) BRCA1:c.-123_-122AG[1] BRCA1:c.-242_-241AG[1] BRCA1:c.68_69del (p.Glu23fs) BRCA1:c.-22AG[1] BRCA1:c.66_67AG[1] (p.Glu23Valfs) | nucleaotide-sequencing | Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA oncology:2016 | |||||
CHEK2 gene | Malignant neoplasm of prostate Malignant neoplasm of kidney Malignant neoplasm of stomach Breast Carcinoma sarcoma | 86975 | heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | loss-of-function | Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2016 | ||
CHEK2 gene | Breast Carcinoma | 44777 | heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2016 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene ATM gene | hereditary cancer | 439 | BRCA1:c.2075delC (p.Asp694Ilefs) BRCA1:c.2312delC (p.Asp773Ilefs) BRCA1:c.1952delC (p.Asp653Ilefs) BRCA1:c.1568delC (p.Asp525Ilefs) BRCA1:c.2456delC (p.Asp821Ilefs) BRCA1:c.2457del (p.Asp821fs) BRCA1:c.2316del (p.Asp774fs) BRCA1:c.787+1670del BRCA1:c.594-2A>C BRCA1:c.453-2A>C BRCA2:c.7543dup (p.Thr2515fs) BRCA2:c.8575del (p.Gln2859fs) BRCA1:c.131G>A (p.Cys44Tyr) BRCA1:c.-58G>T BRCA1:c.-173G>T BRCA1:c.-11G>T BRCA1:c.-289G>T BRCA1:c.131G>T (p.Cys44Phe) ATM:c.1564_1565del (p.Glu522fs) ATM:c.170G>A (p.Trp57Ter) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) ATM:c.8545C>T (p.Arg2849Ter) ATM:c.641-36798G>A ATM:c.695-10577G>A BRCA1:c.5193+1G>T BRCA1:c.5052+1G>T BRCA1:c.1881+1G>T BRCA1:c.5256+1G>T CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CDKN2A:c.35C>A (p.Ser12Ter) CDKN2A:c.-3-3585C>A CDKN2A:c.194-3585C>A BRCA2:c.5233del (p.Met1745CysfsTer?) | nucleaotide-sequencing | Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. Clinical cancer research : an official journal of the American Association for Cancer Research:2016 | |||||
Colorectal Carcinoma lynch syndrome | 274 | MLH3:c.885del (p.His296fs) BRCA1:c.4096+3A>G BRCA1:c.3955+3A>G BRCA1:c.788-400A>G BRCA1:c.2045A>G (p.Glu682Gly) BRCA1:c.2282A>G (p.Glu761Gly) BRCA1:c.1922A>G (p.Glu641Gly) BRCA1:c.1538A>G (p.Glu513Gly) BRCA1:c.2426A>G (p.Glu809Gly) BRCA1:c.2285A>G (p.Glu762Gly) BRCA1:c.787+1639A>G MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G MSH6:c.3261dup (p.Phe1088fs) MSH6:c.2871dup (p.Phe958fs) MSH6:c.2355dup (p.Phe786fs) MLH1:c.1896+1335G>A MLH1:c.1938+1G>A MLH1:c.1029+1G>A MLH1:c.1380+1G>A MLH1:c.2004+1G>A MLH1:c.1809+1G>A MLH1:c.1380+1G>C MLH1:c.1080+1G>C MLH1:c.1809+1G>C MLH1:c.1029+1G>C MLH1:c.2103+1G>C MLH1:c.2010+1G>C MSH2:c.1045C>G MSH2:c.1045C>G (p.Pro349Ala) MSH2:c.847C>G (p.Pro283Ala) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G BRCA2:c.714_716dup (p.Glu238_Ser239insArg) ATM:c.8494C>T (p.Arg2832Cys) ATM:c.641-36747G>A ATM:c.695-10526G>A PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G MUTYH:c.1143_1144dup (p.Glu382fs) MUTYH:c.1227_1228dup (p.Glu410fs) MUTYH:c.1188_1189dup (p.Glu397fs) MUTYH:c.1176_1177dup (p.Glu393fs) MUTYH:c.867_868dup (p.Glu290fs) MUTYH:c.798_799dup (p.Glu267fs) MUTYH:c.1218_1219dup (p.Glu407fs) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) APC:c.1139G>A (p.Arg380Gln) APC:c.1169G>A (p.Arg390Gln) APC:c.1064G>A (p.Arg355Gln) APC:c.1055G>A (p.Arg352Gln) APC:c.962G>A (p.Arg321Gln) APC:c.290G>A (p.Arg97Gln) APC:c.964-98G>A APC:c.859-98G>A APC:c.934-98G>A APC:c.757-98G>A ATM:c.8584+2T>C ATM:c.641-36839A>G ATM:c.695-10618A>G MSH6:c.2079dup (p.Cys694fs) MSH6:c.1689dup (p.Cys564fs) MSH6:c.1173dup (p.Cys392fs) APC:c.6190G>A (p.Ala2064Thr) APC:c.6166G>A (p.Ala2056Thr) APC:c.6061G>A (p.Ala2021Thr) APC:c.6052G>A (p.Ala2018Thr) APC:c.6013G>A (p.Ala2005Thr) APC:c.5959G>A (p.Ala1987Thr) APC:c.5863G>A (p.Ala1955Thr) APC:c.5833G>A (p.Ala1945Thr) APC:c.5758G>A (p.Ala1920Thr) APC:c.5656G>A (p.Ala1886Thr) APC:c.5287G>A (p.Ala1763Thr) PMS2:c.599A>T (p.Asn200Ile) PMS2:c.686A>T (p.Asn229Ile) PMS2:c.71A>T (p.Asn24Ile) PMS2:c.431A>T (p.Asn144Ile) PMS2:c.1004A>T (p.Asn335Ile) PMS2:c.695A>T (p.Asn232Ile) PMS2:c.583+2033A>T PMS2:c.988+2033A>T POLE:c.844C>T (p.Pro282Ser) POLE:c.844C>T POLE:c.4168C>T POLE:c.4168C>T (p.Arg1390Cys) PTEN:c.377C>T (p.Ala126Val) PTEN:c.896C>T (p.Ala299Val) PTEN:c.-374C>T PTEN:c.377C>T MSH6:c.1282A>G (p.Lys428Glu) MSH6:c.892A>G (p.Lys298Glu) MSH6:c.376A>G (p.Lys126Glu) MYH11:c.4624C>T (p.Arg1542Trp) MYH11:c.4624C>T MYH11:c.4603C>T MYH11:c.4603C>T (p.Arg1535Trp) MYH11:c.948-3164G>A MLH1:c.-1003C>T MLH1:c.-1116C>T MLH1:c.-1025C>T MLH1:c.-786C>T MLH1:c.-684C>T MLH1:c.-781C>T MLH1:c.-1013C>T MLH1:c.41C>T (p.Thr14Ile) BLM:c.2824-2A>T BLM:c.1699-2A>T POLE:c.229C>T (p.Arg77Cys) BLM:c.2983T>C (p.Tyr995His) BLM:c.1858T>C (p.Tyr620His) BLM:c.2983T>C MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A BRCA2:c.2808_2811del (p.Ala938fs) | sanger sequencing | Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clinical genetics:2017 | ||||||
FANCM gene RAD51D gene RAD51C gene PALB2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma or ovarian | 68 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) RAD51D:c.576+1G>A RAD51D:c.240+1G>A RAD51D:c.636+1G>A | CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC cancer:2017 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | breast/ovarian cancer hereditary breast/ovarian cancer | 36 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | sanger sequencing multiplex ligation-dependent probe amplification | point mutation deletion duplication | Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing. Cancer genetics:2017 | |||
PLAG1 gene HMGA2 gene RAD51B gene CHEK2 gene | leiomyosarcoma Breast Carcinoma leiomyoma leiomyomas type leiomyosarcoma | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. Cold Spring Harbor molecular case studies:2017 | |||||
PALB2 gene CHEK2 gene BRCA2 gene | Breast Carcinoma Carcinoma of Male Breast genetic | 715 | c.1100delC | PALB2:c.3549C>G (p.Tyr1183Ter) ATM:c.5762_5763insNG_009830.1 ATM:c.5763-1050A>G ATM:c.641-39T>C ATM:c.*39-39T>C BRCA1:c.1855_1858AAAG[1] (p.Arg621Lysfs) BRCA1:c.1852_1855AAAG[1] (p.Arg620Lysfs) BRCA1:c.1849_1852AAAG[1] (p.Arg619Lysfs) BRCA1:c.1786_1789AAAG[1] (p.Arg598Lysfs) BRCA1:c.1783_1786AAAG[1] (p.Arg597Lysfs) BRCA2:c.1296_1297del (p.Asn433fs) BRCA2:c.1929del (p.Arg645fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.518del BRCA2:c.5350_5351del (p.Asn1784fs) BRCA2:c.5799_5802del (p.Asn1933fs) BRCA2:c.778_779del (p.Glu260fs) BRCA2:c.7976G>A (p.Arg2659Lys) BRCA2:c.7977-1G>C BRCA2:c.8331+1G>A BRCA2:c.9076C>T (p.Gln3026Ter) BRCA2:c.9253dup BRCA2:c.9253dup (p.Thr3085fs) BRCA2:c.9435_9436delGT BRCA2:c.9435_9436del (p.Ser3147fs) BRCA2:c.3975_3978dup (p.Ala1327fs) BRCA2:c.4456_4459del (p.Val1486fs) BRCA2:c.475G>A (p.Val159Met) BRCA2:c.4940_4941del (p.Thr1647fs) BRCA2:c.5130_5133del (p.Asp1709_Tyr1710insTer) BRCA2:c.5616_5620del (p.Lys1872fs) BRCA2:c.5857G>T (p.Glu1953Ter) BRCA2:c.6676_6677del (p.Glu2226fs) BRCA2:c.7007G>C (p.Arg2336Pro) BRCA2:c.8575C>T (p.Gln2859Ter) BRCA2:c.9331G>T (p.Glu3111Ter) BRCA2:c.6068_6072del (p.Asp2023fs) BRCA2:c.1642C>T (p.Gln548Ter) BARD1:c.1690C>T BARD1:c.1690C>T (p.Gln564Ter) BARD1:c.1633C>T (p.Gln545Ter) BARD1:c.337C>T (p.Gln113Ter) BARD1:c.280C>T (p.Gln94Ter) BARD1:c.365-15334C>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.661_662delinsTA (p.Val221Ter) PTEN:c.1061C>A PTEN:c.1061C>A (p.Pro354Gln) PTEN:c.1580C>A (p.Pro527Gln) PTEN:c.470C>A (p.Pro157Gln) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del PALB2:c.109-2A>G ATM:c.901+1G>A MRE11:c.1867+2T>C MRE11:c.1864+2T>C MRE11:c.1783+1411T>C CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T BRCA2:c.3257_3258del (p.Ile1086fs) RAD51D:c.270_271dup (p.Lys91fs) RAD51D:c.330_331dup (p.Lys111fs) RAD51D:c.145-960_145-959dup BRCA2:c.7865dup (p.Asn2622fs) BRCA2:c.6938-1G>A NF1:c.1721+3A>G NF1:c.1724A>G (p.Tyr575Cys) PALB2:c.93dup PALB2:c.93dup (p.Leu32fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast cancer research and treatment:2017 | |||||
PALB2 gene CDH1 gene ATM gene MUTYH gene APC gene CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Colon Carcinoma Breast Carcinoma | 118 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) CDH1:c.1018A>G CDH1:c.1018A>G (p.Thr340Ala) CDH1:c.-598A>G CDH1:c.-802A>G CDH1:c.2494G>A CDH1:c.2311G>A (p.Val771Met) CDH1:c.946G>A (p.Val316Met) CDH1:c.529G>A (p.Val177Met) CDH1:c.2494G>A (p.Val832Met) BRCA1:c.3433C>T (p.Gln1145Ter) BRCA1:c.3049C>T (p.Gln1017Ter) BRCA1:c.1333C>T (p.Gln445Ter) BRCA1:c.3937C>T (p.Gln1313Ter) BRCA1:c.3796C>T (p.Gln1266Ter) BRCA1:c.788-562C>T BRCA1:c.5049+6T>C BRCA1:c.4986+6T>C BRCA1:c.4845+6T>C BRCA1:c.1674+6T>C BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.9294C>G (p.Tyr3098Ter) BRCA2:c.7504C>T (p.Arg2502Cys) MSH6:c.2667G>T (p.Gln889His) MSH6:c.2277G>T (p.Gln759His) MSH6:c.1761G>T (p.Gln587His) PMS2:c.167A>G (p.Tyr56Cys) PMS2:c.572A>G (p.Tyr191Cys) PMS2:c.254A>G (p.Tyr85Cys) PMS2:c.263A>G (p.Tyr88Cys) PMS2:c.133-1818A>G PMS2:c.-347-15A>G TP53:c.241C>T (p.Arg81Ter) TP53:c.520C>T (p.Arg174Ter) TP53:c.160C>T (p.Arg54Ter) BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) BRCA1:c.427_436dup (p.Thr149Alafs) BRCA1:c.664_673dup (p.Thr228Alafs) BRCA1:c.304_313dup (p.Thr108Alafs) BRCA1:c.-81_-72dup BRCA1:c.808_817dup (p.Thr276Alafs) BRCA1:c.815_824dup (p.Thr276fs) BRCA1:c.674_683dup (p.Thr229fs) BRCA1:c.787+28_787+37dup PALB2:c.2674G>A (p.Glu892Lys) ATM:c.2932T>C (p.Ser978Pro) ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G PMS2:c.857A>G (p.Asp286Gly) PMS2:c.539A>G (p.Asp180Gly) PMS2:c.452A>G (p.Asp151Gly) PMS2:c.-77A>G PMS2:c.284A>G (p.Asp95Gly) PMS2:c.548A>G (p.Asp183Gly) PMS2:c.857A>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) BRIP1:c.1774T>G (p.Trp592Gly) BRCA2:c.6331_6332del (p.Lys2111fs) APC:c.479A>G (p.Lys160Arg) APC:c.374A>G (p.Lys125Arg) APC:c.449A>G (p.Lys150Arg) APC:c.272A>G (p.Lys91Arg) APC:c.-587A>G APC:c.449A>G CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T BRIP1:c.550G>T (p.Asp184Tyr) ATM:c.2927T>C (p.Val976Ala) MSH2:c.2048G>T MSH2:c.2048G>T (p.Gly683Val) MSH2:c.1850G>T (p.Gly617Val) MLH1:c.593T>C (p.Leu198Ser) MLH1:c.-137T>C MLH1:c.887T>C (p.Leu296Ser) MLH1:c.788T>C (p.Leu263Ser) MLH1:c.-36-5325T>C ATM:c.4148C>T (p.Ser1383Leu) BRIP1:c.3378A>C (p.Glu1126Asp) BRCA2:c.6176G>A (p.Ser2059Asn) CHEK2:c.1567C>T CHEK2:c.1696C>T (p.Arg566Cys) CHEK2:c.904C>T (p.Arg302Cys) CHEK2:c.1366C>T (p.Arg456Cys) CHEK2:c.1567C>T (p.Arg523Cys) CHEK2:c.1480C>T (p.Arg494Cys) APC:c.7525A>G (p.Met2509Val) APC:c.7501A>G (p.Met2501Val) APC:c.7396A>G (p.Met2466Val) APC:c.7387A>G (p.Met2463Val) APC:c.7348A>G (p.Met2450Val) APC:c.7294A>G (p.Met2432Val) APC:c.7198A>G (p.Met2400Val) APC:c.7168A>G (p.Met2390Val) APC:c.7093A>G (p.Met2365Val) APC:c.6991A>G (p.Met2331Val) APC:c.6622A>G (p.Met2208Val) BRCA2:c.1384G>T (p.Glu462Ter) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.6331_6332dup (p.Asn2113GlufsTer7) | Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. Breast cancer research and treatment:2017 | ||||||
PALB2 gene RAD51D gene BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate prostate | 692 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T BRCA2:c.6591_6592del (p.Glu2198fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.3170_3174del (p.Lys1057fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4472_4475del (p.Leu1491fs) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.5645C>A (p.Ser1882Ter) BRCA2:c.8575del (p.Gln2859fs) BRCA2:c.517-2A>G BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.6757_6758del (p.Leu2253fs) BRCA2:c.8754+4A>G BRCA2:c.5864C>G (p.Ser1955Ter) BRCA1:c.4009C>T (p.Gln1337Ter) BRCA1:c.913C>T (p.Gln305Ter) BRCA1:c.4222C>T (p.Gln1408Ter) BRCA1:c.4099C>T (p.Gln1367Ter) BRCA1:c.3958C>T (p.Gln1320Ter) BRCA1:c.5075-1G>A BRCA1:c.4934-1G>A BRCA1:c.1763-1G>A BRCA1:c.5138-1G>A BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.2385_2388delAGTT (p.Val796Ilefs) BRCA1:c.2622_2625delAGTT (p.Val875Ilefs) BRCA1:c.2262_2265delAGTT (p.Val755Ilefs) BRCA1:c.1878_1881delAGTT (p.Val627Ilefs) BRCA1:c.2766_2769delAGTT (p.Val923Ilefs) BRCA1:c.2767_2770del (p.Val923fs) BRCA1:c.2626_2629del (p.Val876fs) BRCA1:c.788-1732_788-1729del MSH6:c.642C>G (p.Tyr214Ter) MSH6:c.252C>G (p.Tyr84Ter) MSH6:c.-265C>G PALB2:c.3113G>A (p.Trp1038Ter) ATM:c.1339C>T (p.Arg447Ter) ATM:c.3802del (p.Glu1267_Val1268insTer) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A ATM:c.7630-2A>C ATM:c.641-22806T>G ATM:c.*38+3343T>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A BRIP1:c.2273dup (p.Ala759fs) ATM:c.1402_1403del (p.Lys468fs) ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T ATM:c.4373del (p.Gly1458fs) ATM:c.790del (p.Tyr264fs) CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.226del (p.Ile76fs) PALB2:c.2052del (p.Arg686fs) ATM:c.742C>T (p.Arg248Ter) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del MRE11:c.1222dup (p.Thr408fs) RAD51C:c.181_182delCT RAD51C:c.181_182del (p.Leu61fs) RAD51C:c.709C>T RAD51C:c.709C>T (p.Arg237Ter) MSH2:c.408del MSH2:c.408del (p.Phe136fs) MSH2:c.210del (p.Phe70fs) BRCA2:c.8754+4A>T BARD1:c.457_460dupAAAG BARD1:c.457_460dup (p.Val154fs) BARD1:c.400_403dup (p.Val135fs) BARD1:c.158+27995_158+27998dup BARD1:c.215+15644_215+15647dup BARD1:c.364+10880_364+10883dup BRCA2:c.4544dup (p.Ile1516fs) NBN:c.1958dup (p.Leu654fs) NBN:c.1712dup (p.Leu572fs) ATM:c.5910del ATM:c.5910del (p.Glu1971fs) ATM:c.641-1235del ATM:c.*39-1235del RAD51D:c.386dup (p.Gly130fs) RAD51D:c.326dup (p.Gly110fs) RAD51D:c.145-904dup NBN:c.56del NBN:c.-241del NBN:c.56del (p.Leu18_Leu19insTer) BRCA2:c.4691dup (p.Thr1566fs) BRCA2:c.2097delG (p.Gln699Hisfs) BRCA2:c.2097del (p.Gln699fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) RAD51D:c.264-1G>A RAD51D:c.145-967G>A RAD51D:c.324-1G>A RAD51D:c.814del (p.Thr272fs) RAD51D:c.754del (p.Thr252fs) RAD51D:c.418del (p.Thr140fs) BRCA1:c.2767_2770del (p.Val923IlefsTer?) BRCA1:c.2626_2629del (p.Val876IlefsTer?) BRCA1:c.788-1732_788-1729del (n.788-1732_788-1729del) BRCA2:c.2094del (p.Gln699SerfsTer?) BRCA2:c.4544dup (p.Ile1516AspfsTer13) BRCA2:c.4691dup (p.Thr1566AspfsTer9) BRCA2:c.5364dup (p.Lys1789GlnfsTer18) BRCA2:c.5585_5588del (p.Val1862GlufsTer11) | nucleaotide-sequencing | autosomal dominant | Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53. Urologic oncology:2017 | ||||
RAD51C gene CHEK2 gene PTEN gene TP53 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary breast or ovarian cancer breast and ovarian cancer | 95 | BRCA2:c.7480C>T (p.Arg2494Ter) BRCA2:c.7480C>T BRCA2:c.8314G>T (p.Glu2772Ter) BRCA1:c.3121delT (p.Leu1041Terfs) BRCA1:c.2737delT (p.Leu913Terfs) BRCA1:c.1021delT (p.Leu341Terfs) BRCA1:c.3625delT (p.Leu1209Terfs) BRCA1:c.3626del (p.Lys1208_Leu1209insTer) BRCA1:c.3485del (p.Lys1161_Leu1162insTer) BRCA1:c.788-873del BRCA1:c.5278-1G>C BRCA1:c.5137-1G>C BRCA1:c.1966-1G>C BRCA1:c.5341-1G>C BRCA1:c.966C>G (p.Tyr322Ter) BRCA1:c.963C>G (p.Tyr321Ter) BRCA1:c.843C>G (p.Tyr281Ter) BRCA1:c.4656C>G (p.Tyr1552Ter) BRCA1:c.4515C>G (p.Tyr1505Ter) BRCA1:c.1344C>G (p.Tyr448Ter) BRCA1:c.4719C>G (p.Tyr1573Ter) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A TP53:c.448C>G (p.Arg150Gly) TP53:c.727C>G (p.Arg243Gly) TP53:c.367C>G (p.Arg123Gly) RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) RAD51C:c.837+1G>C RAD51C:c.837+1G>A BRCA1:c.4656C>A (p.Tyr1552Ter) BRCA1:c.4515C>A (p.Tyr1505Ter) BRCA1:c.1344C>A (p.Tyr448Ter) BRCA1:c.4719C>A (p.Tyr1573Ter) BRCA2:c.1286T>G (p.Leu429Ter) | nucleaotide-sequencing | premature stop | Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. Clinical genetics:2018 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast | 41 | p.Ile157Thr p.Arg145Trp c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 Germ Line Mutations are Lacking among Familialand Sporadic Breast Cancer Patients in Rwanda Asian Pacific journal of cancer prevention : APJCP:2018 | ||||
RAF1 gene MST1R gene ERBB2 gene NOTCH2 gene ERCC1 gene BARD1 gene ATM gene CHEK2 gene TP53 gene | hereditary breast cancer known breast cancer | 17 | c.1100delC | SOS1:c.3347-1G>A SOS1:c.3326-1G>A SOS1:c.3347-1724G>A APC:c.1658C>T (p.Ser553Phe) APC:c.1634C>T (p.Ser545Phe) APC:c.1529C>T (p.Ser510Phe) APC:c.1520C>T (p.Ser507Phe) APC:c.1481C>T (p.Ser494Phe) APC:c.1427C>T (p.Ser476Phe) APC:c.1331C>T (p.Ser444Phe) APC:c.1301C>T (p.Ser434Phe) APC:c.1226C>T (p.Ser409Phe) APC:c.1124C>T (p.Ser375Phe) APC:c.755C>T (p.Ser252Phe) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del SLX4:c.3368C>A SLX4:c.3368C>A (p.Ser1123Tyr) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) TSC2:c.3584C>T TSC2:c.3485C>T (p.Ala1162Val) TSC2:c.3455C>T (p.Ala1152Val) TSC2:c.3584C>T (p.Ala1195Val) TSC2:c.3452C>T (p.Ala1151Val) TSC2:c.3344C>T (p.Ala1115Val) TSC2:c.3308C>T (p.Ala1103Val) MSH3:c.2659G>A MSH3:c.2659G>A (p.Asp887Asn) SLX4:c.4766G>A SLX4:c.4766G>A (p.Arg1589His) BARD1:c.2215dupT BARD1:c.2215dup (p.Tyr739fs) BARD1:c.2158dup (p.Tyr720fs) BARD1:c.862dup (p.Tyr288fs) BARD1:c.805dup (p.Tyr269fs) BARD1:c.676dup (p.Tyr226fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. Frontiers in genetics:2018 | ||||
TP53 gene RAD51D gene RAD51C gene PALB2 gene NBN gene CHEK2 gene CDH1 gene ATM gene | Breast Carcinoma hereditary breast cancer | 5589 | heterozygous | NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.4060C>A (p.Pro1354Thr) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) TP53:c.644C>A (p.Ala215Asp) TP53:c.*147C>A TP53:c.*59C>A TP53:c.923C>A (p.Ala308Asp) TP53:c.563C>A (p.Ala188Asp) PALB2:c.1001A>G (p.Tyr334Cys) PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.2752C>T (p.Pro918Ser) PALB2:c.2903C>G (p.Ala968Gly) PALB2:c.3251C>T (p.Ser1084Leu) PALB2:c.3428T>A (p.Leu1143His) CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) ATM:c.1010G>A (p.Arg337His) ATM:c.1516G>T (p.Gly506Cys) ATM:c.1564_1565del (p.Glu522fs) ATM:c.2333A>G (p.Asn778Ser) ATM:c.2770C>T (p.Arg924Trp) ATM:c.4709T>C (p.Val1570Ala) ATM:c.5185G>C (p.Val1729Leu) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.610G>A (p.Gly204Arg) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C NBN:c.1421T>A (p.Val474Glu) NBN:c.1667T>A (p.Val556Glu) NBN:c.1903A>T (p.Thr635Ser) NBN:c.2149A>T (p.Thr717Ser) NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) NBN:c.595C>T (p.Pro199Ser) NBN:c.349C>T (p.Pro117Ser) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1525C>T CHEK2:c.1654C>T (p.Pro552Ser) CHEK2:c.862C>T (p.Pro288Ser) CHEK2:c.1324C>T (p.Pro442Ser) CHEK2:c.1525C>T (p.Pro509Ser) CHEK2:c.1438C>T (p.Pro480Ser) CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) PALB2:c.194C>T (p.Pro65Leu) RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ATM:c.3630G>A (p.Met1210Ile) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.8071C>T (p.Arg2691Cys) ATM:c.641-25958G>A ATM:c.*38+191G>A ATM:c.8921C>T (p.Pro2974Leu) ATM:c.640+20768G>A ATM:c.694+20768G>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) ATM:c.7592T>C (p.Met2531Thr) ATM:c.641-22449A>G ATM:c.*38+3700A>G ATM:c.*1317A>G NBN:c.1925A>G (p.Lys642Arg) NBN:c.1679A>G (p.Lys560Arg) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) RAD51D:c.796C>T (p.Arg266Cys) RAD51D:c.856C>T (p.Arg286Cys) RAD51D:c.460C>T (p.Arg154Cys) PALB2:c.1037_1041del (p.Lys346fs) RAD51D:c.196G>A (p.Val66Met) RAD51D:c.144+543G>A ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.7328G>A (p.Arg2443Gln) ATM:c.641-21163C>T ATM:c.*38+4986C>T ATM:c.670A>G (p.Lys224Glu) NBN:c.803C>T (p.Thr268Met) NBN:c.557C>T (p.Thr186Met) ATM:c.3832G>A (p.Asp1278Asn) ATM:c.4724G>A (p.Arg1575His) ATM:c.6257A>T (p.Tyr2086Phe) ATM:c.641-8360T>A ATM:c.*39-8360T>A ATM:c.8428A>C (p.Lys2810Gln) ATM:c.641-36681T>G ATM:c.695-10460T>G PALB2:c.2106A>G (p.Ile702Met) PALB2:c.37G>A (p.Glu13Lys) RAD51D:c.845C>T (p.Pro282Leu) RAD51D:c.785C>T (p.Pro262Leu) RAD51D:c.449C>T (p.Pro150Leu) RAD51C:c.224dup (p.Tyr75Ter) RAD51C:c.224dupA RAD51C:c.224_225insA CHEK2:c.1039G>A CHEK2:c.1168G>A (p.Asp390Asn) CHEK2:c.376G>A (p.Asp126Asn) CHEK2:c.838G>A (p.Asp280Asn) CHEK2:c.1039G>A (p.Asp347Asn) CHEK2:c.1009-1084G>A CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A NBN:c.506G>A (p.Arg169His) NBN:c.260G>A (p.Arg87His) ATM:c.5938G>A (p.Gly1980Arg) ATM:c.641-3359C>T ATM:c.*39-3359C>T ATM:c.6860G>A (p.Gly2287Glu) ATM:c.641-17039C>T ATM:c.*38+9110C>T ATM:c.7375C>T (p.Arg2459Cys) ATM:c.641-21210G>A ATM:c.*38+4939G>A ATM:c.7463G>A (p.Cys2488Tyr) ATM:c.641-21298C>T ATM:c.*38+4851C>T PALB2:c.2792T>G (p.Leu931Arg) PALB2:c.1097A>G (p.Asn366Ser) PALB2:c.109C>A (p.Arg37Ser) PALB2:c.100C>T (p.Arg34Cys) TP53:c.-104dup TP53:c.259-2dup TP53:c.376-2dup CHEK2:c.1091T>C CHEK2:c.1220T>C (p.Ile407Thr) CHEK2:c.428T>C (p.Ile143Thr) CHEK2:c.890T>C (p.Ile297Thr) CHEK2:c.1091T>C (p.Ile364Thr) CHEK2:c.1009-1032T>C ATM:c.902G>A (p.Gly301Asp) NBN:c.211_212insGA (p.Asn71fs) NBN:c.-36_-35insGA ATM:c.1943T>C (p.Val648Ala) PALB2:c.2470dup (p.Cys824fs) PALB2:c.3073G>A (p.Ala1025Thr) NBN:c.1659G>A (p.Met553Ile) NBN:c.1413G>A (p.Met471Ile) NBN:c.1651dup (p.Arg551fs) NBN:c.1405dup (p.Arg469fs) NBN:c.1417C>A (p.Gln473Lys) NBN:c.1171C>A (p.Gln391Lys) ATM:c.200A>G (p.Tyr67Cys) ATM:c.3078G>T (p.Trp1026Cys) ATM:c.5263A>G (p.Met1755Val) ATM:c.8015A>C (p.Asp2672Ala) ATM:c.641-25902T>G ATM:c.*38+247T>G ATM:c.9019G>T (p.Glu3007Ter) ATM:c.640+20564C>A ATM:c.694+20564C>A PALB2:c.3494C>T (p.Ser1165Leu) PALB2:c.2325A>C (p.Gln775His) PALB2:c.1704A>C (p.Gln568His) RAD51C:c.397C>A RAD51C:c.397C>A (p.Gln133Lys) ATM:c.6914_6915AG[1] (p.Leu2307Cysfs) ATM:c.6916_6917del (p.Leu2307fs) ATM:c.641-17094_641-17093del ATM:c.*38+9055_*38+9056del ATM:c.3852del ATM:c.3852del (p.Asp1285fs) PALB2:c.13C>T (p.Pro5Ser) ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T ATM:c.8895G>C (p.Leu2965Phe) ATM:c.640+20794C>G ATM:c.694+20794C>G CHEK2:c.1556G>A CHEK2:c.1685G>A (p.Arg562Gln) CHEK2:c.893G>A (p.Arg298Gln) CHEK2:c.1355G>A (p.Arg452Gln) CHEK2:c.1556G>A (p.Arg519Gln) CHEK2:c.1469G>A (p.Arg490Gln) PALB2:c.1128T>G (p.Ser376Arg) ATM:c.2158C>T (p.Arg720Cys) ATM:c.4873A>G (p.Lys1625Glu) PALB2:c.1424dup (p.Arg476fs) RAD51D:c.202G>A (p.Gly68Ser) RAD51D:c.144+549G>A RAD51D:c.689C>A (p.Ala230Glu) RAD51D:c.629C>A (p.Ala210Glu) RAD51D:c.293C>A (p.Ala98Glu) TP53:c.404G>C (p.Arg135Pro) TP53:c.683G>C (p.Arg228Pro) TP53:c.323G>C (p.Arg108Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CDH1:c.1468G>A CDH1:c.1285G>A (p.Glu429Lys) CDH1:c.-81G>A CDH1:c.-352G>A CDH1:c.1468G>A (p.Glu490Lys) ATM:c.4237G>A (p.Asp1413Asn) ATM:c.8150A>G (p.Lys2717Arg) ATM:c.641-26037T>C ATM:c.*38+112T>C ATM:c.5319+2T>C RAD51D:c.80C>T (p.Thr27Ile) CDH1:c.1568A>G CDH1:c.1385A>G (p.Tyr462Cys) CDH1:c.20A>G (p.Tyr7Cys) CDH1:c.1568A>G (p.Tyr523Cys) CDH1:c.-254-2719A>G NBN:c.119C>T (p.Ser40Leu) NBN:c.-178C>T CDH1:c.2336G>A CDH1:c.2153G>A (p.Arg718Gln) CDH1:c.788G>A (p.Arg263Gln) CDH1:c.371G>A (p.Arg124Gln) CDH1:c.2336G>A (p.Arg779Gln) CDH1:c.344C>T CDH1:c.344C>T (p.Thr115Met) CDH1:c.-1272C>T CDH1:c.-1476C>T CDH1:c.1988A>G CDH1:c.1805A>G (p.Tyr602Cys) CDH1:c.440A>G (p.Tyr147Cys) CDH1:c.23A>G (p.Tyr8Cys) CDH1:c.1988A>G (p.Tyr663Cys) CHEK2:c.307T>C CHEK2:c.307T>C (p.Phe103Leu) CHEK2:c.-471T>C PALB2:c.1748T>G (p.Leu583Trp) CHEK2:c.1510A>G (p.Thr504Ala) CHEK2:c.1597A>G CHEK2:c.1726A>G (p.Thr576Ala) CHEK2:c.934A>G (p.Thr312Ala) CHEK2:c.1396A>G (p.Thr466Ala) CHEK2:c.1597A>G (p.Thr533Ala) ATM:c.2836A>G (p.Met946Val) ATM:c.737A>G (p.Asn246Ser) PALB2:c.18G>T (p.Gly6=) CHEK2:c.592+3A>T CHEK2:c.445-51A>T CHEK2:c.-186+3A>T CHEK2:c.721+3A>T CHEK2:c.1282T>C CHEK2:c.1153T>C CHEK2:c.1282T>C (p.Cys428Arg) CHEK2:c.490T>C (p.Cys164Arg) CHEK2:c.952T>C (p.Cys318Arg) CHEK2:c.1153T>C (p.Cys385Arg) CHEK2:c.1066T>C (p.Cys356Arg) PALB2:c.1448C>T (p.Ser483Leu) TP53:c.*146G>A TP53:c.*58G>A TP53:c.922G>A (p.Ala308Thr) TP53:c.562G>A (p.Ala188Thr) TP53:c.1039G>A (p.Ala347Thr) PALB2:c.2736G>A PALB2:c.2736G>A (p.Trp912Ter) ATM:c.2423C>T ATM:c.2423C>T (p.Thr808Ile) NBN:c.2029G>A (p.Asp677Asn) NBN:c.1783G>A (p.Asp595Asn) NBN:c.596C>G (p.Pro199Arg) NBN:c.350C>G (p.Pro117Arg) ATM:c.322G>A (p.Ala108Thr) ATM:c.6604T>G (p.Tyr2202Asp) ATM:c.641-16270A>C ATM:c.*38+9879A>C ATM:c.8228C>T (p.Thr2743Met) ATM:c.641-26850G>A ATM:c.695-629G>A ATM:c.9166G>T (p.Val3056Leu) ATM:c.640+20417C>A ATM:c.694+20417C>A CHEK2:c.322T>C CHEK2:c.451T>C (p.Cys151Arg) CHEK2:c.-456T>C CHEK2:c.322T>C (p.Cys108Arg) ATM:c.7568T>G (p.Leu2523Trp) ATM:c.*1341A>C ATM:c.641-22425A>C ATM:c.*38+3724A>C ATM:c.2519A>T (p.Asp840Val) ATM:c.6983C>T (p.Pro2328Leu) ATM:c.641-18581G>A ATM:c.*38+7568G>A ATM:c.7865C>G (p.Ala2622Gly) ATM:c.641-23767G>C ATM:c.*38+2382G>C ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T CDH1:c.1766A>G CDH1:c.1583A>G (p.Asn528Ser) CDH1:c.218A>G (p.Asn73Ser) CDH1:c.-200A>G CDH1:c.1766A>G (p.Asn589Ser) TP53:c.289T>G (p.Cys97Gly) TP53:c.568T>G (p.Cys190Gly) TP53:c.208T>G (p.Cys70Gly) NBN:c.1919A>G (p.Asn640Ser) NBN:c.1673A>G (p.Asn558Ser) ATM:c.7235A>G (p.Asn2412Ser) ATM:c.641-20095T>C ATM:c.*38+6054T>C RAD51C:c.613C>A (p.Leu205Ile) RAD51C:c.706-1G>A RAD51C:c.862del (p.Thr288fs) RAD51C:c.621T>A RAD51C:c.621T>A (p.His207Gln) CDH1:c.939C>G CDH1:c.939C>G (p.Asp313Glu) CDH1:c.-677C>G CDH1:c.-881C>G CDH1:c.2368A>G CDH1:c.2185A>G (p.Thr729Ala) CDH1:c.820A>G (p.Thr274Ala) CDH1:c.403A>G (p.Thr135Ala) CDH1:c.2368A>G (p.Thr790Ala) PALB2:c.3331C>G (p.Pro1111Ala) CHEK2:c.1033C>T CHEK2:c.1162C>T (p.His388Tyr) CHEK2:c.370C>T (p.His124Tyr) CHEK2:c.832C>T (p.His278Tyr) CHEK2:c.1033C>T (p.His345Tyr) CHEK2:c.1009-1090C>T CHEK2:c.1399_1401delTTG CHEK2:c.1525TTG[1] (p.Leu510del) CHEK2:c.733TTG[1] (p.Leu246del) CHEK2:c.1195TTG[1] (p.Leu400del) CHEK2:c.1396TTG[1] (p.Leu467del) CHEK2:c.1309TTG[1] (p.Leu438del) CHEK2:c.1546_1557del (p.Ala516_Thr519del) CHEK2:c.754_765del (p.Ala252_Thr255del) CHEK2:c.1216_1227del (p.Ala406_Thr409del) CHEK2:c.1417_1428del (p.Ala473_Thr476del) CHEK2:c.1330_1341del (p.Ala444_Thr447del) CHEK2:c.1417_1428del12 RAD51C:c.520A>G RAD51C:c.520A>G (p.Thr174Ala) ATM:c.3565C>T (p.Leu1189Phe) PALB2:c.2750T>C (p.Val917Ala) PALB2:c.229T>C (p.Cys77Arg) CDH1:c.2356G>A CDH1:c.2173G>A (p.Asp725Asn) CDH1:c.808G>A (p.Asp270Asn) CDH1:c.391G>A (p.Asp131Asn) CDH1:c.2356G>A (p.Asp786Asn) CHEK2:c.1408G>C CHEK2:c.1537G>C (p.Asp513His) CHEK2:c.745G>C (p.Asp249His) CHEK2:c.1207G>C (p.Asp403His) CHEK2:c.1408G>C (p.Asp470His) CHEK2:c.1321G>C (p.Asp441His) ATM:c.5262G>T (p.Lys1754Asn) NBN:c.1622C>G (p.Ala541Gly) NBN:c.1376C>G (p.Ala459Gly) CHEK2:c.695G>A CHEK2:c.824G>A (p.Gly275Glu) CHEK2:c.32G>A (p.Gly11Glu) CHEK2:c.494G>A (p.Gly165Glu) CHEK2:c.695G>A (p.Gly232Glu) TP53:c.286_288delTCT TP53:c.283TCT[1] (p.Ser96del) TP53:c.166TCT[1] (p.Ser57del) CDH1:c.2033T>C CDH1:c.1850T>C (p.Val617Ala) CDH1:c.485T>C (p.Val162Ala) CDH1:c.68T>C (p.Val23Ala) CDH1:c.2033T>C (p.Val678Ala) ATM:c.4631A>G (p.Tyr1544Cys) ATM:c.5237G>T (p.Gly1746Val) CHEK2:c.1591G>T CHEK2:c.1720G>T (p.Glu574Ter) CHEK2:c.928G>T (p.Glu310Ter) CHEK2:c.1390G>T (p.Glu464Ter) CHEK2:c.1591G>T (p.Glu531Ter) CHEK2:c.1504G>T (p.Glu502Ter) CDH1:c.261G>C CDH1:c.261G>C (p.Arg87Ser) CDH1:c.-1355G>C CDH1:c.-1559G>C RAD51D:c.959G>A (p.Arg320Gln) RAD51D:c.899G>A (p.Arg300Gln) RAD51D:c.563G>A (p.Arg188Gln) ATM:c.8098A>T (p.Lys2700Ter) ATM:c.641-25985T>A ATM:c.*38+164T>A ATM:c.5319+1G>T NBN:c.350C>T (p.Ser117Phe) NBN:c.104C>T (p.Ser35Phe) ATM:c.8806G>C (p.Glu2936Gln) ATM:c.640+31090C>G ATM:c.695-19538C>G ATM:c.2662G>C (p.Glu888Gln) ATM:c.8314G>A (p.Gly2772Arg) ATM:c.641-34196C>T ATM:c.695-7975C>T CDH1:c.781G>A CDH1:c.781G>A (p.Glu261Lys) CDH1:c.-835G>A CDH1:c.-1039G>A RAD51D:c.758G>A (p.Arg253Gln) RAD51D:c.818G>A (p.Arg273Gln) RAD51D:c.422G>A (p.Arg141Gln) ATM:c.3403-3A>C PALB2:c.839del (p.Asn280fs) NBN:c.2201C>T (p.Ala734Val) NBN:c.1955C>T (p.Ala652Val) PALB2:c.481G>C (p.Asp161His) RAD51C:c.193A>G RAD51C:c.193A>G (p.Arg65Gly) CHEK2:c.1382A>G CHEK2:c.1511A>G (p.Asp504Gly) CHEK2:c.719A>G (p.Asp240Gly) CHEK2:c.1181A>G (p.Asp394Gly) CHEK2:c.1382A>G (p.Asp461Gly) CHEK2:c.1295A>G (p.Asp432Gly) CDH1:c.1103C>G CDH1:c.1103C>G (p.Thr368Ser) CDH1:c.-513C>G CDH1:c.-717C>G ATM:c.5476T>G (p.Leu1826Val) ATM:c.6215G>C (p.Gly2072Ala) ATM:c.641-8318C>G ATM:c.*39-8318C>G PALB2:c.1292G>A (p.Ser431Asn) ATM:c.3709A>T (p.Ile1237Phe) PALB2:c.3433G>T (p.Gly1145Cys) PALB2:c.1919C>G (p.Ser640Ter) NBN:c.343G>A (p.Ala115Thr) NBN:c.97G>A (p.Ala33Thr) RAD51D:c.1031A>T (p.Gln344Leu) RAD51D:c.971A>T (p.Gln324Leu) RAD51D:c.635A>T (p.Gln212Leu) RAD51D:c.167T>G (p.Val56Gly) RAD51D:c.144+514T>G RAD51C:c.65C>T (p.Ala22Val) RAD51C:c.308T>A (p.Phe103Tyr) RAD51C:c.388G>A (p.Gly130Arg) RAD51D:c.26G>C (p.Cys9Ser) | Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer medicine:2018 | |||||
ERCC6L2 gene MECOM gene SAMD9L gene SAMD9 gene LIG4 gene RPL5 gene DNAJC21 gene SBDS gene RTEL1 gene TERT gene TERC gene RUNX1 gene GATA2 gene BMF gene | myelodysplasia ribosome disorders telomeropathies hematopoietic disorders bone marrow | 179 | 173 | TNFRSF13B:c.310T>C (p.Cys104Arg) CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) PTPN11:c.1519G>C PTPN11:c.1507G>C PTPN11:c.1507G>C (p.Gly503Arg) PTPN11:c.1519G>C (p.Gly507Arg) PTPN11:c.1504G>C (p.Gly502Arg) ERCC6L2:c.1930C>T (p.Arg644Ter) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) LIG4:c.1070_1074del (p.Lys357fs) LIG4:c.1271_1275del (p.Lys424fs) LIG4:c.1307_1311del (p.Lys436fs) KIT:c.2663G>A (p.Arg888Gln) KIT:c.2651G>A (p.Arg884Gln) KIT:c.2666G>A (p.Arg889Gln) KIT:c.2660G>A (p.Arg887Gln) KIT:c.2648G>A (p.Arg883Gln) KIT:c.2654G>A (p.Arg885Gln) ERCC6L2:c.52C>T ERCC6L2:c.19C>T (p.Gln7Ter) GATA2:c.1084C>T GATA2:c.1084C>T (p.Arg362Ter) GATA2:c.1042C>T (p.Arg348Ter) GATA2:c.1082G>A (p.Arg361His) GATA2:c.1040G>A (p.Arg347His) ERCC6L2:c.1333dup (p.Tyr445fs) ERCC6L2:c.1051_1054del (p.Ala351fs) ERCC6L2:c.1987C>T (p.Arg663Ter) ERCC6L2:c.3493-2A>G ERCC6L2:c.950+2T>G ERCC6L2:c.153dup (p.Ala52fs) LIG4:c.1703del (p.Lys568fs) LIG4:c.1904del (p.Lys635fs) LIG4:c.1940del (p.Lys647fs) SAMD9L:c.2956C>T SAMD9L:c.2956C>T (p.Arg986Cys) SLC37A4:c.80A>G (p.Asn27Ser) SLC37A4:c.-172+102A>G RUNX1:c.733C>T (p.Pro245Ser) RUNX1:c.652C>T (p.Pro218Ser) CTC1:c.833G>T CTC1:c.833G>T (p.Gly278Val) TINF2:c.*352G>C TINF2:c.1116+1G>C TINF2:c.1221+1G>C GATA2:c.423C>A (p.Tyr141Ter) GATA2:c.1079G>T (p.Trp360Leu) GATA2:c.1037G>T (p.Trp346Leu) DNAJC21:c.983+1G>A MECOM:c.2520C>G (p.Asn840Lys) MECOM:c.1326C>G (p.Asn442Lys) MECOM:c.2325C>G (p.Asn775Lys) MECOM:c.2889C>G (p.Asn963Lys) MECOM:c.2301C>G (p.Asn767Lys) MECOM:c.2298C>G (p.Asn766Lys) MECOM:c.2862C>G (p.Asn954Lys) MECOM:c.2328C>G (p.Asn776Lys) MECOM:c.2013+4A>T MECOM:c.2016+4A>T MECOM:c.2208+4A>T MECOM:c.2577+4A>T | nucleaotide-sequencing | A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood:2018 | ||||
XRCC2 gene RECQL4 gene RBBP8 gene PPM1D gene MCPH1 gene FANCM gene FANCE gene ERCC5 gene ERCC3 gene BARD1 gene PMS2 gene PTEN gene BRIP1 gene APC gene TP53 gene RAD51D gene ATM gene PALB2 gene BRCA2 gene BRCA1 gene | hereditary breast/ovarian cancer breast or ovarian cancer | 17 | CHEK2:c.917G>T CHEK2:c.1046G>T (p.Gly349Val) CHEK2:c.254G>T (p.Gly85Val) CHEK2:c.716G>T (p.Gly239Val) CHEK2:c.917G>T (p.Gly306Val) XPC:c.1001C>A (p.Pro334His) XPC:c.422C>A (p.Pro141His) XPC:c.983C>A (p.Pro328His) APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) XRCC2:c.643C>T XRCC2:c.643C>T (p.Arg215Ter) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G MSH6:c.4002-10T>A MSH6:c.3096-10T>A MSH6:c.3612-10T>A MLH1:c.251G>A (p.Arg84Gln) MLH1:c.-36-5238G>A MLH1:c.680G>A (p.Arg227Gln) MLH1:c.-50G>A MSH2:c.1045C>G MSH2:c.1045C>G (p.Pro349Ala) MSH2:c.847C>G (p.Pro283Ala) PMS2:c.416-2A>G PMS2:c.56-2A>G PMS2:c.584-2A>G PMS2:c.680-2A>G PMS2:c.671-2A>G PMS2:c.988+2016A>G PMS2:c.989-2A>G PALB2:c.3428T>A (p.Leu1143His) NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.2289T>A (p.Phe763Leu) ATM:c.2932T>C (p.Ser978Pro) ATM:c.610G>A (p.Gly204Arg) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C ATM:c.7475T>G (p.Leu2492Arg) ATM:c.641-21310A>C ATM:c.*38+4839A>C BLM:c.11T>C BLM:c.11T>C (p.Val4Ala) BLM:c.-1281T>C BLM:c.2333C>G BLM:c.2333C>G (p.Ser778Cys) BLM:c.1208C>G (p.Ser403Cys) FANCC:c.178G>A FANCC:c.178G>A (p.Val60Ile) MSH6:c.3235A>C (p.Ile1079Leu) MSH6:c.2845A>C (p.Ile949Leu) MSH6:c.2329A>C (p.Ile777Leu) PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G TP53:c.71G>A (p.Arg24His) TP53:c.350G>A (p.Arg117His) TP53:c.-11G>A NBN:c.456G>A (p.Met152Ile) NBN:c.210G>A (p.Met70Ile) CDH1:c.2644G>A CDH1:c.2461G>A (p.Asp821Asn) CDH1:c.1096G>A (p.Asp366Asn) CDH1:c.679G>A (p.Asp227Asn) CDH1:c.2644G>A (p.Asp882Asn) XRCC2:c.450C>G XRCC2:c.450C>G (p.Ser150Arg) RAD50:c.1094G>A RAD50:c.1094G>A (p.Arg365Gln) CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ERCC3:c.847C>T (p.Arg283Cys) ERCC3:c.655C>T (p.Arg219Cys) RAD50:c.3790C>T (p.Leu1264Phe) RAD50:c.3790C>T PALB2:c.101G>A (p.Arg34His) MSH6:c.4004A>C (p.Glu1335Ala) MSH6:c.3614A>C (p.Glu1205Ala) MSH6:c.3098A>C (p.Glu1033Ala) PALB2:c.2257C>T (p.Arg753Ter) MUTYH:c.1017dup (p.Arg340fs) MUTYH:c.1101dup (p.Arg368fs) MUTYH:c.1062dup (p.Arg355fs) MUTYH:c.1050dup (p.Arg351fs) MUTYH:c.741dup (p.Arg248fs) MUTYH:c.672dup (p.Arg225fs) MUTYH:c.1092dup (p.Arg365fs) CDH1:c.369C>G CDH1:c.369C>G (p.His123Gln) CDH1:c.-1247C>G CDH1:c.-1451C>G RAD51D:c.94_95del (p.Val32fs) FANCL:c.1141_1144dup (p.Thr382fs) FANCL:c.1096_1099dup (p.Thr367fs) FANCL:c.*102_*105dup FANCL:c.*487_*490dup APC:c.4449T>A (p.Ser1483Arg) APC:c.4425T>A (p.Ser1475Arg) APC:c.4320T>A (p.Ser1440Arg) APC:c.4311T>A (p.Ser1437Arg) APC:c.4272T>A (p.Ser1424Arg) APC:c.4218T>A (p.Ser1406Arg) APC:c.4122T>A (p.Ser1374Arg) APC:c.4092T>A (p.Ser1364Arg) APC:c.4017T>A (p.Ser1339Arg) APC:c.3915T>A (p.Ser1305Arg) APC:c.3546T>A (p.Ser1182Arg) BRIP1:c.1702_1703del (p.Asn568fs) CDH1:c.2590G>A CDH1:c.2407G>A (p.Glu803Lys) CDH1:c.1042G>A (p.Glu348Lys) CDH1:c.625G>A (p.Glu209Lys) CDH1:c.2590G>A (p.Glu864Lys) ATM:c.5278A>G (p.Met1760Val) TP53:c.191G>C (p.Arg64Pro) TP53:c.470G>C (p.Arg157Pro) TP53:c.110G>C (p.Arg37Pro) FANCA:c.2602-9_2602-8del FANCA:c.2602-13CT[2] POLE:c.1309G>A POLE:c.1309G>A (p.Val437Met) ERCC5:c.4180G>A (p.Val1394Met) ERCC5:c.2818G>A (p.Val940Met) ATM:c.4148C>T (p.Ser1383Leu) FANCL:c.1066_1067del (p.Ser356fs) FANCL:c.1096_1097del (p.Ser366fs) FANCL:c.1051_1052del (p.Ser351fs) APC:c.3575A>C (p.Asn1192Thr) APC:c.3566A>C (p.Asn1189Thr) APC:c.3527A>C (p.Asn1176Thr) APC:c.3473A>C (p.Asn1158Thr) APC:c.3377A>C (p.Asn1126Thr) APC:c.3347A>C (p.Asn1116Thr) APC:c.3272A>C (p.Asn1091Thr) APC:c.3170A>C (p.Asn1057Thr) APC:c.2801A>C (p.Asn934Thr) APC:c.3650A>C APC:c.6988C>T (p.Pro2330Ser) APC:c.6883C>T (p.Pro2295Ser) APC:c.6874C>T (p.Pro2292Ser) APC:c.6835C>T (p.Pro2279Ser) APC:c.6781C>T (p.Pro2261Ser) APC:c.6685C>T (p.Pro2229Ser) APC:c.6655C>T (p.Pro2219Ser) APC:c.6580C>T (p.Pro2194Ser) APC:c.6478C>T (p.Pro2160Ser) APC:c.6109C>T (p.Pro2037Ser) APC:c.6958C>T RECQL4:c.1868G>A (p.Arg623His) BAP1:c.1441C>A BAP1:c.1441C>A (p.His481Asn) ATM:c.3993+5G>T SLX4:c.832C>T SLX4:c.832C>T (p.Arg278Trp) CHEK2:c.1228T>G CHEK2:c.1357T>G (p.Cys453Gly) CHEK2:c.565T>G (p.Cys189Gly) CHEK2:c.1027T>G (p.Cys343Gly) CHEK2:c.1228T>G (p.Cys410Gly) CHEK2:c.1141T>G (p.Cys381Gly) PALB2:c.1675C>T (p.Gln559Ter) RECQL4:c.2272C>T (p.Arg758Ter) RET:c.432G>A (p.Ala144=) RET:c.168G>A (p.Ala56=) RET:c.1158G>A (p.Ala386=) RET:c.1158G>A (p.Ala386_Gly387=) RECQL4:c.2636dup (p.Gln880fs) RECQL4:c.1238C>G RECQL4:c.1238C>G (p.Ala413Gly) CDH1:c.2558C>T CDH1:c.2375C>T (p.Ser792Leu) CDH1:c.1010C>T (p.Ser337Leu) CDH1:c.593C>T (p.Ser198Leu) CDH1:c.2558C>T (p.Ser853Leu) ERCC3:c.1757delA ERCC3:c.1757del (p.Gln586fs) ERCC3:c.1565del (p.Gln522fs) POLE:c.2090C>G POLE:c.2090C>G (p.Pro697Arg) RECQL4:c.3055+5G>A POLD1:c.2429C>T POLD1:c.2429C>T (p.Ala810Val) POLD1:c.2507C>T (p.Ala836Val) FANCD2:c.2273G>C FANCD2:c.2273G>C (p.Cys758Ser) FANCD2:c.2162G>C (p.Cys721Ser) ATM:c.7462T>C (p.Cys2488Arg) ATM:c.641-21297A>G ATM:c.*38+4852A>G CDKN2A:c.197A>C (p.His66Pro) CDKN2A:c.44A>C (p.His15Pro) CDKN2A:c.240A>C (p.Pro80=) CDKN2A:c.*120A>C MLH1:c.173G>A (p.Ser58Asn) MLH1:c.896G>A (p.Ser299Asn) MLH1:c.602G>A (p.Ser201Asn) MLH1:c.-128G>A BAP1:c.1553G>A BAP1:c.1553G>A (p.Arg518Gln) SDHAF2:c.139A>G (p.Met47Val) PALB2:c.2989G>T (p.Asp997Tyr) ATM:c.4432C>T (p.Gln1478Ter) NF2:c.1252C>T (p.Arg418Cys) NF2:c.1126C>T (p.Arg376Cys) NF2:c.1129C>T (p.Arg377Cys) NF2:c.1003C>T (p.Arg335Cys) NF2:c.448-21354C>T STK11:c.662C>T (p.Pro221Leu) RECQL4:c.1237G>A RECQL4:c.1237G>A (p.Ala413Thr) ERCC3:c.2087T>G ERCC3:c.2087T>G (p.Met696Arg) ERCC3:c.1895T>G (p.Met632Arg) BIVM-ERCC5;ERCC5:c.4916A>C BIVM-ERCC5;ERCC5:c.4916A>C (p.Lys1639Thr) BIVM-ERCC5;ERCC5:c.3554A>C (p.Lys1185Thr) BIVM-ERCC5;ERCC5:c.3554A>C RAD51C:c.489T>G (p.Ser163Arg) RECQL4:c.1211del (p.Phe404fs) RAD51C:c.13A>T (p.Thr5Ser) BARD1:c.580_581delAG BARD1:c.580_581del (p.Arg194fs) BARD1:c.523_524del (p.Arg175fs) BARD1:c.158+28118_158+28119del BARD1:c.215+15767_215+15768del BARD1:c.364+11003_364+11004del NBN:c.37+5G>A NBN:c.-260+5G>A ATM:c.95G>A (p.Arg32His) BRCA1:c.2105dup (p.Leu702PhefsTer10) BRCA1:c.1964dup (p.Leu655PhefsTer10) BRCA1:c.787+1318dup (n.787+1318dup) BRCA1:c.2194delinsAA (p.Glu732LysfsTer8) BRCA1:c.2053delinsAA (p.Glu685LysfsTer8) BRCA1:c.787+1407delinsAA (n.787+1407delinsAA) BRCA2:c.4030_4034del (p.Asn1344TyrfsTer6) | nucleaotide-sequencing | Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. Journal of cancer research and clinical oncology:2018 | |||||
CHEK2 gene | Malignant neoplasm of prostate | 703 | c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.1254delT CHEK2:c.1383del (p.Phe461fs) CHEK2:c.591del (p.Phe197fs) CHEK2:c.1053del (p.Phe351fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1167del (p.Phe389fs) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. The Prostate:2018 | |||||
FANCM gene RAD51D gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | c.556C>T c.5791C>T p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.7007G>C (p.Arg2336Pro) FANCM:c.5791C>T FANCM:c.5713C>T (p.Arg1905Ter) FANCM:c.5791C>T (p.Arg1931Ter) RAD51D:c.556C>T (p.Arg186Ter) RAD51D:c.616C>T (p.Arg206Ter) RAD51D:c.220C>T (p.Arg74Ter) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA2:c.5791C>T (p.Gln1931Ter) BRCA1:c.391C>T (p.His131Tyr) BRCA1:c.682C>T (p.His228Tyr) BRCA1:c.685C>T (p.His229Tyr) BRCA1:c.4204C>T (p.His1402Tyr) BRCA1:c.4063C>T (p.His1355Tyr) BRCA1:c.895C>T (p.His299Tyr) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | nucleaotide-sequencing | Mutational analysis of candidate genes in Israeli male breast cancer cases. Breast cancer research and treatment:2018 | |||||
KDM3B gene DICER1 gene TP53 gene | Weaver syndrome Coffin-Siris syndrome Rubinstein-Taybi Syndrome Intellectual Disability winter syndrome | 146 | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) DICER1:c.5126A>G (p.Asp1709Gly) DICER1:c.5427_5428delinsTT (p.Asp1810Tyr) DICER1:c.5365-194_5365-193delinsTT DICER1:c.5427_5428delinsTT DICER1:c.5113G>A (p.Glu1705Lys) DICER1:c.5113G>A DICER1:c.2414T>C (p.Leu805Pro) DICER1:c.2414T>C KDM3B:c.277G>T KDM3B:c.277G>T (p.Glu93Ter) DICER1:c.5127T>G DICER1:c.5127T>G (p.Asp1709Glu) KDM3B:c.3095A>T KDM3B:c.3095A>T (p.Asp1032Val) DICER1:c.1363delG DICER1:c.1363del (p.Val455fs) BAP1:c.2116A>G (p.Ile706Val) | nucleaotide-sequencing | High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research:2018 | |||||
CHEK2 gene | Breast Carcinoma | 19 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C BRCA2:c.8290G>A (p.Ala2764Thr) | nucleaotide-sequencing microarray | Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer. International journal of cancer:2020 | ||||
CHEK2 gene ATM gene | Breast Carcinoma radiation therapy | 708 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Radiation Treatment, ATM, BRCA1/2, and CHEK2*1100delC Pathogenic Variants and Risk of Contralateral Breast Cancer. Journal of the National Cancer Institute:2020 | |||||
CHEK2 gene NBN gene PALB2 gene ATM gene BRCA2 gene | Ductal Breast Carcinoma Breast Carcinoma | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | High risk of breast cancer in women with biallelic pathogenic variants in CHEK2. Breast cancer research and treatment:2020 | |||||||
CHEK2 gene | Malignant neoplasm of testis | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. Familial cancer:2021 | ||||||
CHEK2 gene | Carcinoma of bladder Malignant neoplasm of kidney stage t1 disease stage ta bladder cancer t1 disease t1 bladder cancer bladder or kidney cancer | 1016 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Survival of bladder or renal cancer in patients with CHEK2 mutations. PloS one:2021 | ||||
CHEK2 gene | Breast Carcinoma | 26 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry. Cancers:2021 | ||||
CHEK2 gene | Breast Carcinoma | 28 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients. Scientific reports:2021 | ||||
SERPINB3 gene CHEK2 gene | Squamous cell carcinoma of skin Cutaneous Melanoma melanoma Malignant neoplasm of skin Breast Carcinoma basal cell carcinomas melanoma skin cancers | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C | Skin cancer risk in CHEK2 mutation carriers. Journal of the European Academy of Dermatology and Venereology : JEADV:2021 | ||||||
CHEK2 gene PALB2 gene | Breast Carcinoma breast nonmucinous ovarian cancer breast and ovarian cancer | 35 | c._1100delC c.1100delC | PALB2:c.3549C>G (p.Tyr1183Ter) PALB2:c.196C>T (p.Gln66Ter) PALB2:c.2982dup (p.Ala995fs) PALB2:c.3116del (p.Asn1039fs) PALB2:c.786del (p.Glu263fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics:2021 | |||||
PALB2 gene CHEK2 gene | Malignant neoplasm of ovary Breast Carcinoma breast and/or ovarian cancer | 95 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients. Human heredity:2022 | ||||
BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | c.1100delC p.Ile157Thr p.Arg95Ter p.Arg145Trp c.444+1G>A | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.-495C>T (n.-495C>T) CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) | microarray nucleaotide-sequencing | Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review. European journal of medical genetics:2022 | |||||
FOXL2 gene CHEK2 gene | Malignant neoplasm of ovary Thyroid carcinoma granulosa cell tumors | 93 | p.Cys134Trp p.Ile157Thr c.1100delC | FOXL2:c.402C>G (p.Cys134Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors. Cancers:2022 | |||||
FANCM gene BRIP1 gene RAD51D gene RAD51C gene BARD1 gene ATM gene CHEK2 gene PALB2 gene BRCA2 gene BRCA1 gene | breast and ovarian cancer | c.1100delC c.1592delT | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1478delT (p.His494Metfs) BRCA1:c.1715delT (p.His573Metfs) BRCA1:c.1355delT (p.His453Metfs) BRCA1:c.971delT (p.His325Metfs) BRCA1:c.1859delT (p.His621Metfs) BRCA1:c.1860del (p.His621fs) BRCA1:c.1719del (p.His574fs) BRCA1:c.787+1073del | nucleaotide-sequencing | Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients. Cancers:2022 | |||||
CHEK2 gene | Malignant neoplasm of prostate node involvement | 150 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer. Genes:2022 | |||||
CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Ductal Breast Carcinoma Breast Carcinoma | 379 | c.1100delC | BRCA2:c.7988A>T (p.Glu2663Val) BRCA1:c.5152+4A>G BRCA1:c.5011+4A>G BRCA1:c.1840+4A>G BRCA1:c.5215+4A>G TP53:c.436C>T (p.Pro146Ser) TP53:c.715C>T (p.Pro239Ser) TP53:c.355C>T (p.Pro119Ser) TP53:c.876+1G>A TP53:c.993+1G>A TP53:c.516+1G>A TP53:c.597+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. Journal of medical genetics:2022 | ||||
PALB2 gene CHEK2 gene BRCA2 gene BRCA1 gene ATM gene | Breast Carcinoma | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Penetrance of male breast cancer susceptibility genes: a systematic review. Breast cancer research and treatment:2022 | ||||||
CYP1A1 gene NLRP2 gene NOD2 gene NBN gene MLH1 gene HOXB13 gene CYP1B1 gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of prostate | 110 | c.3020insC p.Ile171Val c.IVS2+1G>A c.1100delC p.Gly84Glu | NBN:c.511A>G (p.Ile171Val) NBN:c.265A>G (p.Ile89Val) HOXB13:c.251G>A (p.Gly84Glu) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | sanger sequencing | premature stop | Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men. Cancer control : journal of the Moffitt Cancer Center:2022 | |||
MUTYH gene APC gene CHEK2 gene | Colorectal Carcinoma | heterozygous | c.1100delC p.Ile1307Lys c.3920T>A p.Ile157Thr c.470T>C p.Thr367fs | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.3920T>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genetics in medicine : official journal of the American College of Medical Genetics:2022 | |||||
CHEK2 gene | Breast Carcinoma | 14 | homozygous | p.Asp438Tyr c.1100delC | CHEK2:c.1312G>T CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | high resolution melting | Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition. Familial cancer:2023 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Patient's Ethnicity | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|---|
CHEK2 gene BRCA2 gene | Breast Carcinoma | belarusian | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | |||
NOD2 gene ERCC2 gene BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | 18(year) | female | polish | p.Glu1008Ter p.Lys751Gln p.Ala1991Val p.Ile157Thr | ERCC2:c.2251A>C (p.Lys751Gln) BRCA2:c.5972C>T (p.Ala1991Val) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA1:c.3406G>T (p.Glu1136Ter) BRCA1:c.3022G>T (p.Glu1008Ter) BRCA1:c.1306G>T (p.Glu436Ter) BRCA1:c.3910G>T (p.Glu1304Ter) BRCA1:c.3769G>T (p.Glu1257Ter) BRCA1:c.788-589G>T | nucleaotide-sequencing | Breast cancer in an 18-year-old female: A fatal case report and literature review. Cancer biology & therapy:2018 |
CHEK2 gene | Precursor B-cell lymphoblastic leukemia Leukemia, Myelomonocytic, Chronic Hematologic Neoplasms myelodysplastic syndrome myeloid and lymphoid neoplasms | p.Tyr159His c.475T>C | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-303T>C (n.-303T>C) CHEK2:c.444+149T>C (n.444+149T>C) | nucleaotide-sequencing Exome sequencing | Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant. Cold Spring Harbor molecular case studies:2021 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
CHEK2 gene | Malignant neoplasm of prostate prostate carcinogenesis | 149 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1109A>G (p.Tyr370Cys) CHEK2:c.317A>G (p.Tyr106Cys) CHEK2:c.779A>G (p.Tyr260Cys) CHEK2:c.980A>G (p.Tyr327Cys) CHEK2:c.980A>G CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | polymerase chain reaction | frameshift missense mutation | Mutations in CHEK2 associated with prostate cancer risk. American journal of human genetics:2003 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 737 | 335 | p.Ile157Thr p.Arg145Trp p.Arg117Gly c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. American journal of human genetics:2003 | ||||
CHEK2 gene | Malignant neoplasm of prostate hereditary prostate cancer | 120 | p.Ile157Thr c.1100delC | CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2 variants associate with hereditary prostate cancer. British journal of cancer:2003 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 516 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.1022A>C CHEK2:c.1151A>C (p.Asn384Thr) CHEK2:c.359A>C (p.Asn120Thr) CHEK2:c.821A>C (p.Asn274Thr) CHEK2:c.1022A>C (p.Asn341Thr) CHEK2:c.1009-1101A>C | splice site mutation | Limited relevance of the CHEK2 gene in hereditary breast cancer. International journal of cancer:2004 | ||||
CHEK2 gene | Breast Carcinoma | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variant I157T may be associated with increased breast cancer risk. International journal of cancer:2004 | ||||||
CHEK2 gene | Thyroid carcinoma Malignant neoplasm of prostate Malignant neoplasm of kidney Colon Carcinoma Breast Carcinoma breast and prostate cancer | 4008 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | missense mutation premature stop | CHEK2 is a multiorgan cancer susceptibility gene. American journal of human genetics:2004 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 140 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer research:2004 | ||||
CHEK2 gene TP53 gene BRCA1 gene CDC25C gene | Breast Carcinoma Li-Fraumeni Syndrome | 53 | c.1368insA p.Ile157Thr c.470T>C | TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Alternative splicing and mutation status of CHEK2 in stage III breast cancer. Oncogene:2004 | ||||
CHEK2 gene | Breast Carcinoma | 996 | heterozygous | c.IVS2+1G>A p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Association of two mutations in the CHEK2 gene with breast cancer. International journal of cancer:2005 | |||
CHEK2 gene | Breast Carcinoma lobular carcinoma | 482 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Pathology of breast cancer in women with constitutional CHEK2 mutations. Breast cancer research and treatment:2005 | ||||
NBN gene CHEK2 gene BRCA1 gene | Breast Carcinoma | p.Ile157Thr c.5382insC c.4153delA p.Cys61Gly | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA1:c.469delA (p.Ser157Alafs) BRCA1:c.760delA (p.Ser254Alafs) BRCA1:c.763delA (p.Ser255Alafs) BRCA1:c.4282del (p.Ser1428fs) BRCA1:c.4141del (p.Ser1381fs) BRCA1:c.973del (p.Ser325fs) BRCA1:c.973delA (p.Ser325Alafs) BRCA1:c.4282del BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) | missense mutation | Breast cancer predisposing alleles in Poland. Breast cancer research and treatment:2005 | |||||
CHEK2 gene | Malignant neoplasm of ovary borderline ovarian cancers ovarian cystadenomas ovarian benign ovarian cystadenomas | 1108 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. Gynecologic oncology:2006 | |||||
NOD2 gene CHEK2 gene | Colorectal Carcinoma Colon Carcinoma Breast Carcinoma colorectal breast and colorectal cancers | 978 | p.Ile157Thr c.3020insC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia. Hereditary cancer in clinical practice:2006 | |||||
CHEK2 gene | Colorectal Carcinoma | 1042 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | restriction fragment length polymorphism | CHEK2 I157T associates with familial and sporadic colorectal cancer. Journal of medical genetics:2006 | ||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. Journal of medical genetics:2006 | ||||||
BUB1B gene BRCA2 gene CHEK2 gene ATM gene | Chronic Lymphocytic Leukemia | 992 | p.Gln349Arg p.Asn372His p.Ile157Thr p.Pro1054Arg p.Phe858Leu | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.6100C>T (p.Arg2034Cys) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G ATM:c.1744T>C (p.Phe582Leu) ATM:c.2572T>C (p.Phe858Leu) ATM:c.1746C>G (p.Phe582Leu) BRCA2:c.1114A>C BRCA2:c.1114A>C (p.Asn372His) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) ATM:c.3161C>G (p.Pro1054Arg) | Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. Blood:2006 | |||||
CHEK2 gene | Malignant neoplasm of prostate | p.Glu321Lys c.967A>C p.Arg117Gly c.349A>G | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1160C>T CHEK2:c.1289C>T (p.Thr430Ile) CHEK2:c.497C>T (p.Thr166Ile) CHEK2:c.959C>T (p.Thr320Ile) CHEK2:c.1160C>T (p.Thr387Ile) CHEK2:c.1073C>T (p.Thr358Ile) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.1160C>A CHEK2:c.1289C>A (p.Thr430Asn) CHEK2:c.497C>A (p.Thr166Asn) CHEK2:c.959C>A (p.Thr320Asn) CHEK2:c.1160C>A (p.Thr387Asn) CHEK2:c.1073C>A (p.Thr358Asn) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.347G>C CHEK2:c.-431G>C CHEK2:c.347G>C (p.Gly116Ala) CHEK2:c.476G>C (p.Gly159Ala) CHEK2:c.1276A>G (p.Thr426Ala) CHEK2:c.484A>G (p.Thr162Ala) CHEK2:c.946A>G (p.Thr316Ala) CHEK2:c.1147A>G (p.Thr383Ala) CHEK2:c.1060A>G (p.Thr354Ala) CHEK2:c.1147A>G CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) CHEK2:c.1159A>G CHEK2:c.1288A>G (p.Thr430Ala) CHEK2:c.496A>G (p.Thr166Ala) CHEK2:c.958A>G (p.Thr320Ala) CHEK2:c.1159A>G (p.Thr387Ala) CHEK2:c.1072A>G (p.Thr358Ala) CHEK2:c.961G>A CHEK2:c.1090G>A (p.Glu364Lys) CHEK2:c.298G>A (p.Glu100Lys) CHEK2:c.760G>A (p.Glu254Lys) CHEK2:c.961G>A (p.Glu321Lys) CHEK2:c.-429A>G (n.-429A>G) | Characterization of CHEK2 mutations in prostate cancer. Human mutation:2006 | ||||||
CHEK2 gene | Breast Carcinoma | 3228 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | premature stop missense mutation | CHEK2-positive breast cancers in young Polish women. Clinical cancer research : an official journal of the American Association for Cancer Research:2006 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | p.Tyr424His p.Glu84Glu p.Ser428Phe p.Arg180Cys p.Arg3Trp c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-771C>T (n.-771C>T) BRCA1:c.4438T>C (p.Tyr1480His) BRCA1:c.4531T>C (p.Tyr1511His) BRCA1:c.4390T>C (p.Tyr1464His) BRCA1:c.4387T>C (p.Tyr1463His) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction Electrophoresis nucleaotide-sequencing | premature stop missense mutation | Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. The Israel Medical Association journal : IMAJ:2007 | ||||
CHEK2 gene | Breast Carcinoma | 4454 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop missense mutation deletion | A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast cancer research and treatment:2007 | ||||
CHEK2 gene | Breast Carcinoma | 100 | heterozygous | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology:2007 | ||||
CHEK2 gene | Colorectal Carcinoma | 1085 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? European journal of human genetics : EJHG:2007 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer | p.Arg406His c.1217G>A p.Glu84Glu c.252A>G c.IVS2+1G>A p.Ser428Phe p.Ile157Thr c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.252A>G (p.Glu84=) CHEK2:c.-526A>G (n.-526A>G) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1073G>A (p.Arg358His) BRCA1:c.953G>A (p.Arg318His) BRCA1:c.926G>A (p.Arg309His) BRCA1:c.4766G>A (p.Arg1589His) BRCA1:c.4625G>A (p.Arg1542His) BRCA1:c.1454G>A (p.Arg485His) BRCA1:c.4829G>A (p.Arg1610His) BRCA1:c.980G>A (p.Ser327Asn) BRCA1:c.1217G>A (p.Ser406Asn) BRCA1:c.857G>A (p.Ser286Asn) BRCA1:c.473G>A (p.Ser158Asn) BRCA1:c.1361G>A (p.Ser454Asn) BRCA1:c.1220G>A (p.Ser407Asn) BRCA1:c.787+574G>A BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction | missense mutation | Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. BMC cancer:2008 | ||||
CDKN2A gene CHEK2 gene TP53 gene | Breast Carcinoma | 109 | p.Arg95Ter | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.1091T>C CHEK2:c.1220T>C (p.Ile407Thr) CHEK2:c.428T>C (p.Ile143Thr) CHEK2:c.890T>C (p.Ile297Thr) CHEK2:c.1091T>C (p.Ile364Thr) CHEK2:c.1009-1032T>C CHEK2:c.-495C>T (n.-495C>T) | nucleaotide-sequencing | CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. PloS one:2008 | ||||
CHEK2 gene | Carcinoma of larynx Malignant neoplasm of lung Colon Carcinoma tobacco upper aero-digestive cancers | 895 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers. Carcinogenesis:2008 | |||||
CHEK2 gene BRCA1 gene BRCA2 gene | Malignant neoplasm of prostate Breast Carcinoma Carcinoma of Male Breast breast/ovarian cancer | 102 | p.Ile157Thr c.IVS2+1G>A c.1100delC | BRCA2:c.1146A>T (p.Lys382Asn) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Breast cancer research and treatment:2008 | ||||
CHEK2 gene | Breast Carcinoma | 673 | p.Leu174Phe p.Thr172Ala p.Tyr159His c.IVS2+1G>A c.470T>C p.Ile157Thr | CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.573+1G>T CHEK2:c.444+1G>T CHEK2:c.-334+1G>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.514A>G CHEK2:c.643A>G (p.Thr215Ala) CHEK2:c.-264A>G CHEK2:c.514A>G (p.Thr172Ala) CHEK2:c.445-132A>G CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C CHEK2:c.520C>T CHEK2:c.649C>T (p.Leu217Phe) CHEK2:c.-258C>T CHEK2:c.520C>T (p.Leu174Phe) CHEK2:c.445-126C>T CHEK2:c.444+3A>G CHEK2:c.-334+3A>G CHEK2:c.573+3A>G CHEK2:c.-303T>C (n.-303T>C) CHEK2:c.444+149T>C (n.444+149T>C) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations. Breast cancer research and treatment:2008 | |||||
CHEK2 gene BRCA2 gene | melanoma malignant melanoma | 630 | homozygous | p.Ile157Thr c.1100delC p.Asn372His p.Asn991Asp p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA2:c.1114A>C BRCA2:c.1114A>C (p.Asn372His) BRCA2:c.2971A>G BRCA2:c.2971A>G (p.Asn991Asp) BRCA2:c.2971_2983del (p.Asn991AspfsTer3) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) | Common variants of DNA repair genes and malignant melanoma. European journal of cancer (Oxford, England : 1990):2008 | ||||
BRCA1 gene CHEK2 gene | Breast Carcinoma | 7782 | heterozygous | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. Journal of medical genetics:2009 | |||
CHEK2 gene BRCA2 gene | Breast Carcinoma | c.IVS2+1G>A c.1100delC p.Ile157Thr p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | ||||||
CHEK2 gene | Endometrial Carcinoma | 268 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | CHEK2 I157T and endometrial cancer. DNA and cell biology:2009 | |||||
CHEK2 gene | Colorectal Carcinoma | 631 | c.1100delC p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. European journal of cancer (Oxford, England : 1990):2009 | |||||
MSH6 gene MLH1 gene MSH2 gene CHEK2 gene | Colorectal Carcinoma hereditary non-polyposis-colorectal cancer | 1 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutations and HNPCC-related colorectal cancer. International journal of cancer:2010 | ||||
CHEK2 gene | Colorectal Carcinoma colorectal carcinogenesis | 802 | heterozygous | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | CHEK2 I157T and colorectal cancer in Bulgaria. Journal of B.U.ON. : official journal of the Balkan Union of Oncology:2010 | ||||
CHEK2 gene | Hodgkin Disease | 298 | p.Ile157Thr c.470T>C | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C | liquid chromatography | Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma. Neoplasma:2011 | ||||
CHEK2 gene | Thrombocytosis Thrombocythemia, Essential myeloid and lymphoid malignancies | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. Haematologica:2012 | ||||||
CHEK2 gene | Colorectal Carcinoma | 210 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population. Cancer epidemiology:2012 | ||||
CHEK2 gene BRCA1 gene | Breast Carcinoma | 1255 | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast cancer research and treatment:2012 | ||||
CHEK2 gene MLH1 gene | Colorectal Carcinoma | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer. Mutagenesis:2012 | ||||||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||||
CHEK2 gene TP53 gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene BRCA2 gene BRCA1 gene | Breast Carcinoma Papillary serous endometrial carcinoma li-fraumeni lynch lynch syndrome hereditary breast and ovarian carcinoma | 151 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C TP53:c.422G>A (p.Arg141His) TP53:c.701G>A (p.Arg234His) TP53:c.341G>A (p.Arg114His) BRCA1:c.1321C>T (p.Leu441Phe) BRCA1:c.1411C>T (p.Leu471Phe) BRCA1:c.1270C>T (p.Leu424Phe) BRCA1:c.2331delC (p.Asp777Glufs) BRCA1:c.2334delC (p.Asp778Glufs) BRCA1:c.2262delC (p.Asp754Glufs) BRCA1:c.2475delC (p.Asp825Glufs) BRCA1:c.2472delC (p.Asp824Glufs) BRCA1:c.3209C>T (p.Pro1070Leu) BRCA1:c.2825C>T (p.Pro942Leu) BRCA1:c.1109C>T (p.Pro370Leu) BRCA1:c.3713C>T (p.Pro1238Leu) BRCA1:c.3572C>T (p.Pro1191Leu) BRCA1:c.788-786C>T BRCA1:c.594-2A>C BRCA1:c.453-2A>C BRCA1:c.641A>G (p.Asp214Gly) BRCA1:c.638A>G (p.Asp213Gly) BRCA2:c.4585G>A (p.Gly1529Arg) BRCA2:c.4915G>A (p.Val1639Ile) BRCA2:c.5070A>C (p.Lys1690Asn) BRCA2:c.3569G>A (p.Arg1190Gln) BRCA2:c.6347A>G (p.His2116Arg) BRCA2:c.2960A>T (p.Asn987Ile) BRCA2:c.2960A>T BRCA2:c.4681C>A (p.His1561Asn) BRCA2:c.5635G>A (p.Glu1879Lys) BRCA2:c.6412G>T (p.Val2138Phe) BRCA2:c.673A>G (p.Thr225Ala) BRCA2:c.9816T>G (p.Asp3272Glu) BRCA1:c.1046A>G (p.His349Arg) BRCA1:c.1283A>G (p.His428Arg) BRCA1:c.923A>G (p.His308Arg) BRCA1:c.539A>G (p.His180Arg) BRCA1:c.1427A>G (p.His476Arg) BRCA1:c.1286A>G (p.His429Arg) BRCA1:c.787+640A>G BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) TP53:c.392G>A (p.Arg131His) TP53:c.869G>A TP53:c.869G>A (p.Arg290His) TP53:c.752G>A (p.Arg251His) TP53:c.473G>A (p.Arg158His) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) BRCA1:c.2353A>C (p.Lys785Gln) BRCA1:c.2590A>C (p.Lys864Gln) BRCA1:c.2230A>C (p.Lys744Gln) BRCA1:c.1846A>C (p.Lys616Gln) BRCA1:c.2734A>C (p.Lys912Gln) BRCA1:c.2593A>C (p.Lys865Gln) BRCA1:c.788-1765A>C | nucleaotide-sequencing | BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer:2013 | |||||
CHEK2 gene | Stomach Carcinoma breast and prostate cancers | 658 | p.Ile157Thr c.IVS2G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | The risk of gastric cancer in carriers of CHEK2 mutations. Familial cancer:2013 | ||||
CHEK2 gene | Liver carcinoma | 165 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. Gene:2013 | ||||
CHEK2 gene | Breast Carcinoma | 420 | p.Ile157Thr c.1100delC | CHEK2:c.1008+1G>C CHEK2:c.807+1G>C CHEK2:c.345+1G>C CHEK2:c.1137+1G>C CHEK2:c.1489_1490insCA (p.Glu497fs) CHEK2:c.697_698insCA (p.Glu233fs) CHEK2:c.1159_1160insCA (p.Glu387fs) CHEK2:c.1360_1361insCA (p.Glu454fs) CHEK2:c.1273_1274insCA (p.Glu425fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.1259+1G>C CHEK2:c.1172+1G>C CHEK2:c.1058+1G>C CHEK2:c.596+1G>C CHEK2:c.1388+1G>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.58C>T CHEK2:c.58C>T (p.Gln20Ter) CHEK2:c.-720C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.1260-1G>A CHEK2:c.1173-1G>A CHEK2:c.1059-1G>A CHEK2:c.597-1G>A CHEK2:c.1389-1G>A CHEK2:c.1140C>A (p.Tyr380Ter) CHEK2:c.348C>A (p.Tyr116Ter) CHEK2:c.810C>A (p.Tyr270Ter) CHEK2:c.1011C>A (p.Tyr337Ter) CHEK2:c.1009-1112C>A CHEK2:c.1011C>A CHEK2:c.902delT CHEK2:c.1031del (p.Leu344fs) CHEK2:c.239del (p.Leu80fs) CHEK2:c.701del (p.Leu234fs) CHEK2:c.902del (p.Leu301fs) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.790_793dup (p.Met265fs) CHEK2:c.-3_1dup (p.Met1fs) CHEK2:c.661_664dup (p.Met222fs) CHEK2:c.482+5469_482+5472dup CHEK2:c.661_664dupATCA CHEK2:c.655delG CHEK2:c.784del (p.Glu262fs) CHEK2:c.-9del CHEK2:c.655del (p.Glu219fs) CHEK2:c.482+5463del CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T CHEK2:c.846+1G>C CHEK2:c.645+1G>C CHEK2:c.183+1G>C CHEK2:c.975+1G>C CHEK2:c.792+2T>C CHEK2:c.591+2T>C CHEK2:c.129+2T>C CHEK2:c.921+2T>C CHEK2:c.1232G>A CHEK2:c.1361G>A (p.Trp454Ter) CHEK2:c.569G>A (p.Trp190Ter) CHEK2:c.1031G>A (p.Trp344Ter) CHEK2:c.1232G>A (p.Trp411Ter) CHEK2:c.1145G>A (p.Trp382Ter) CHEK2:c.372delC CHEK2:c.501del (p.Phe168fs) CHEK2:c.-406del CHEK2:c.372del (p.Phe125fs) CHEK2:c.276dupC CHEK2:c.276dup (p.Trp93fs) CHEK2:c.-502dup CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CHEK2:c.1376-1G>A CHEK2:c.1289-1G>A CHEK2:c.1175-1G>A CHEK2:c.713-1G>A CHEK2:c.1505-1G>A CHEK2:c.1375+1_1375+2delGT CHEK2:c.1288+1_1288+2del CHEK2:c.1174+1_1174+2del CHEK2:c.1375+1_1375+2del CHEK2:c.712+1_712+2del CHEK2:c.1504+1_1504+2del CHEK2:c.1315C>T CHEK2:c.1444C>T (p.Gln482Ter) CHEK2:c.652C>T (p.Gln218Ter) CHEK2:c.1114C>T (p.Gln372Ter) CHEK2:c.1315C>T (p.Gln439Ter) CHEK2:c.1228C>T (p.Gln410Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.920delG CHEK2:c.1049del (p.Gly350fs) CHEK2:c.257del (p.Gly86fs) CHEK2:c.719del (p.Gly240fs) CHEK2:c.920del (p.Gly307fs) CHEK2:c.875_876delTT CHEK2:c.1004_1005del (p.Phe334_Phe335insTer) CHEK2:c.212_213del (p.Phe70_Phe71insTer) CHEK2:c.674_675del (p.Phe224_Phe225insTer) CHEK2:c.875_876del (p.Phe291_Phe292insTer) CHEK2:c.876dupT CHEK2:c.1005dup (p.Asp336Ter) CHEK2:c.213dup (p.Asp72Ter) CHEK2:c.675dup (p.Asp226Ter) CHEK2:c.876dup (p.Asp293Ter) CHEK2:c.304G>T CHEK2:c.304G>T (p.Gly102Ter) CHEK2:c.-474G>T CHEK2:c.14_20delCGGATGT CHEK2:c.14_20del (p.Ser5fs) CHEK2:c.-764_-758del CHEK2:c.1201C>T (p.Gln401Ter) CHEK2:c.409C>T (p.Gln137Ter) CHEK2:c.871C>T (p.Gln291Ter) CHEK2:c.1072C>T (p.Gln358Ter) CHEK2:c.1009-1051C>T CHEK2:c.1072C>T CHEK2:c.683+1G>C CHEK2:c.482+5492G>C CHEK2:c.20+1G>C CHEK2:c.812+1G>C CHEK2:c.606delT CHEK2:c.735del (p.Phe245fs) CHEK2:c.-58del CHEK2:c.606del (p.Phe202fs) CHEK2:c.482+5414del CHEK2:c.507delT CHEK2:c.636del (p.Phe212fs) CHEK2:c.-271del CHEK2:c.507del (p.Phe169fs) CHEK2:c.445-139del CHEK2:c.1462-1G>A CHEK2:c.1375-1G>A CHEK2:c.1261-1G>A CHEK2:c.799-1G>A CHEK2:c.1591-1G>A CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.783_784delAA CHEK2:c.912_913del (p.Glu306fs) CHEK2:c.120_121del (p.Glu42fs) CHEK2:c.582_583del (p.Glu196fs) CHEK2:c.783_784del (p.Glu263fs) CHEK2:c.673dupA CHEK2:c.802dup (p.Thr268fs) CHEK2:c.10dup (p.Thr4fs) CHEK2:c.673dup (p.Thr225fs) CHEK2:c.482+5477dup CHEK2:c.31dupC CHEK2:c.31dup (p.Gln11fs) CHEK2:c.-747dup CHEK2:c.444+2T>C CHEK2:c.-334+2T>C CHEK2:c.573+2T>C CHEK2:c.282delT CHEK2:c.282del (p.Arg95fs) CHEK2:c.-496del CHEK2:c.1009-2A>G CHEK2:c.1009-1116A>G CHEK2:c.808-2A>G CHEK2:c.346-2A>G CHEK2:c.1138-2A>G CHEK2:c.417C>A CHEK2:c.546C>A (p.Tyr182Ter) CHEK2:c.-361C>A CHEK2:c.417C>A (p.Tyr139Ter) CHEK2:c.1259+2delT CHEK2:c.1172+2del CHEK2:c.1058+2del CHEK2:c.1259+2del CHEK2:c.596+2del CHEK2:c.1388+2del CHEK2:c.870del CHEK2:c.999del (p.Phe335fs) CHEK2:c.207del (p.Phe71fs) CHEK2:c.669del (p.Phe225fs) CHEK2:c.870del (p.Phe292fs) CHEK2:c.366delA CHEK2:c.495del (p.Glu165fs) CHEK2:c.-412del CHEK2:c.366del (p.Glu122fs) CHEK2:c.247C>T CHEK2:c.247C>T (p.Gln83Ter) CHEK2:c.-531C>T CHEK2:c.219_223delTATTC CHEK2:c.219_223del (p.Ser73_Ile74insTer) CHEK2:c.-564TATTC[1] CHEK2:c.109_119delGGCATATCCAG CHEK2:c.109_119del (p.Gly37fs) CHEK2:c.-669_-659del CHEK2:c.762delG CHEK2:c.891del (p.Lys298fs) CHEK2:c.99del (p.Lys34fs) CHEK2:c.561del (p.Lys188fs) CHEK2:c.762del (p.Lys255fs) CHEK2:c.326_327delTG CHEK2:c.455_456del (p.Val152fs) CHEK2:c.-456TG[2] CHEK2:c.326_327del (p.Val109fs) CHEK2:c.1163_1164dup CHEK2:c.1292_1293dup (p.Thr432fs) CHEK2:c.500_501dup (p.Thr168fs) CHEK2:c.962_963dup (p.Thr322fs) CHEK2:c.1163_1164dup (p.Thr389fs) CHEK2:c.1076_1077dup (p.Thr360fs) CHEK2:c.1008+1G>T CHEK2:c.807+1G>T CHEK2:c.345+1G>T CHEK2:c.1137+1G>T CHEK2:c.319+1G>C CHEK2:c.-459+1G>C CHEK2:c.616_617delGT CHEK2:c.745_746del (p.Val249fs) CHEK2:c.-48_-47del CHEK2:c.616_617del (p.Val206fs) CHEK2:c.482+5424_482+5425del CHEK2:c.529A>T CHEK2:c.658A>T (p.Lys220Ter) CHEK2:c.-249A>T CHEK2:c.529A>T (p.Lys177Ter) CHEK2:c.445-117A>T CHEK2:c.793-2A>G CHEK2:c.592-2A>G CHEK2:c.130-2A>G CHEK2:c.922-2A>G CHEK2:c.792+1G>A CHEK2:c.591+1G>A CHEK2:c.129+1G>A CHEK2:c.921+1G>A CHEK2:c.757A>T CHEK2:c.886A>T (p.Lys296Ter) CHEK2:c.94A>T (p.Lys32Ter) CHEK2:c.556A>T (p.Lys186Ter) CHEK2:c.757A>T (p.Lys253Ter) CHEK2:c.1375+2T>A CHEK2:c.1288+2T>A CHEK2:c.1174+2T>A CHEK2:c.712+2T>A CHEK2:c.1504+2T>A CHEK2:c.151C>T CHEK2:c.151C>T (p.Gln51Ter) CHEK2:c.-627C>T CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1443_1444delAA CHEK2:c.1572_1573del (p.Arg525fs) CHEK2:c.780_781del (p.Arg261fs) CHEK2:c.1242_1243del (p.Arg415fs) CHEK2:c.1443_1444del (p.Arg482fs) CHEK2:c.1356_1357del (p.Arg453fs) CHEK2:c.1063delC CHEK2:c.1192del (p.Leu398fs) CHEK2:c.400del (p.Leu134fs) CHEK2:c.862del (p.Leu288fs) CHEK2:c.1063del (p.Leu355fs) CHEK2:c.1009-1060del CHEK2:c.468C>A CHEK2:c.597C>A (p.Tyr199Ter) CHEK2:c.-310C>A CHEK2:c.468C>A (p.Tyr156Ter) CHEK2:c.444+142C>A CHEK2:c.1096-1G>T CHEK2:c.1009-1G>T CHEK2:c.895-1G>T CHEK2:c.433-1G>T CHEK2:c.1225-1G>T CHEK2:c.448delG CHEK2:c.577del (p.Val193fs) CHEK2:c.-330del CHEK2:c.448del (p.Val150fs) CHEK2:c.444+122del CHEK2:c.292delG CHEK2:c.292del (p.Ala98fs) CHEK2:c.-486del CHEK2:c.1096delA CHEK2:c.1225del (p.Ile409fs) CHEK2:c.433del (p.Ile145fs) CHEK2:c.895del (p.Ile299fs) CHEK2:c.1096del (p.Ile366fs) CHEK2:c.1009del (p.Ile337fs) CHEK2:c.836delA CHEK2:c.965del (p.Lys322fs) CHEK2:c.173del (p.Lys58fs) CHEK2:c.635del (p.Lys212fs) CHEK2:c.836del (p.Lys279fs) CHEK2:c.1454G>A CHEK2:c.1583G>A (p.Trp528Ter) CHEK2:c.791G>A (p.Trp264Ter) CHEK2:c.1253G>A (p.Trp418Ter) CHEK2:c.1454G>A (p.Trp485Ter) CHEK2:c.1367G>A (p.Trp456Ter) CHEK2:c.1188_1194dupTGTTTCT CHEK2:c.1317_1323dup (p.Val442fs) CHEK2:c.525_531dup (p.Val178fs) CHEK2:c.987_993dup (p.Val332fs) CHEK2:c.1188_1194dup (p.Val399fs) CHEK2:c.1101_1107dup (p.Val370fs) CHEK2:c.1022delA CHEK2:c.1151del (p.Asn384fs) CHEK2:c.359del (p.Asn120fs) CHEK2:c.821del (p.Asn274fs) CHEK2:c.1022del (p.Asn341fs) CHEK2:c.1009-1101del CHEK2:c.683+2T>C CHEK2:c.482+5493T>C CHEK2:c.20+2T>C CHEK2:c.812+2T>C CHEK2:c.383delC CHEK2:c.512del (p.Pro171fs) CHEK2:c.-395del CHEK2:c.383del (p.Pro128fs) CHEK2:c.161_164delACTC CHEK2:c.161_164del (p.His54fs) CHEK2:c.-617_-614del CHEK2:c.1007delA CHEK2:c.1136del (p.Gln379fs) CHEK2:c.344del (p.Gln115fs) CHEK2:c.806del (p.Gln269fs) CHEK2:c.1007del (p.Gln336fs) CHEK2:c.1114del (p.Tyr372fs) CHEK2:c.322del (p.Tyr108fs) CHEK2:c.784del (p.Tyr262fs) CHEK2:c.985del (p.Tyr329fs) CHEK2:c.985delT CHEK2:c.908+1_908+8delinsTT CHEK2:c.707+1_707+8delinsTT CHEK2:c.245+1_245+8delinsTT CHEK2:c.1037+1_1037+8delinsTT CHEK2:c.1347delT CHEK2:c.1476del (p.Glu493fs) CHEK2:c.684del (p.Glu229fs) CHEK2:c.1146del (p.Glu383fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.1260del (p.Glu421fs) CHEK2:c.1335_1336delCAinsAC CHEK2:c.1464_1465delinsAC (p.Tyr488_Asn489delinsTer) CHEK2:c.672_673delinsAC (p.Tyr224_Asn225delinsTer) CHEK2:c.1134_1135delinsAC (p.Tyr378_Asn379delinsTer) CHEK2:c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) CHEK2:c.1248_1249delinsAC (p.Tyr416_Asn417delinsTer) CHEK2:c.1049delC CHEK2:c.1178del (p.Pro393fs) CHEK2:c.386del (p.Pro129fs) CHEK2:c.848del (p.Pro283fs) CHEK2:c.1049del (p.Pro350fs) CHEK2:c.1009-1074del CHEK2:c.1019_1034del CHEK2:c.1148_1163del (p.Glu383fs) CHEK2:c.356_371del (p.Glu119fs) CHEK2:c.818_833del (p.Glu273fs) CHEK2:c.1019_1034del (p.Glu340fs) CHEK2:c.1009-1104_1009-1089del CHEK2:c.990del CHEK2:c.1119del (p.Met374fs) CHEK2:c.327del (p.Met110fs) CHEK2:c.789del (p.Met264fs) CHEK2:c.990del (p.Met331fs) CHEK2:c.655G>T CHEK2:c.784G>T (p.Glu262Ter) CHEK2:c.-9G>T CHEK2:c.655G>T (p.Glu219Ter) CHEK2:c.482+5463G>T CHEK2:c.537C>A (p.Tyr179Ter) CHEK2:c.-370C>A CHEK2:c.408C>A (p.Tyr136Ter) CHEK2:c.408C>A CHEK2:c.269delC CHEK2:c.269del (p.Pro90fs) CHEK2:c.-509del CHEK2:c.181delA CHEK2:c.181del (p.Ser61fs) CHEK2:c.-597del CHEK2:c.78_85delCCAGTCCC CHEK2:c.78_85del (p.Gln27fs) CHEK2:c.-700_-693del CHEK2:c.-747C>T CHEK2:c.31C>T (p.Gln11Ter) CHEK2:c.31C>T CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C CHEK2:c.319+1G>T CHEK2:c.-459+1G>T CHEK2:c.592+1G>A CHEK2:c.445-53G>A CHEK2:c.-186+1G>A CHEK2:c.721+1G>A CHEK2:c.1461+2delT CHEK2:c.1374+2del CHEK2:c.1260+2del CHEK2:c.1461+2del CHEK2:c.798+2del CHEK2:c.1590+2del CHEK2:c.1260-24_1263delCTTTCTCTCTCTACCAATATTAAGCCTT CHEK2:c.1173-24_1176del CHEK2:c.1059-24_1062del CHEK2:c.1260-24_1263del CHEK2:c.597-24_600del CHEK2:c.1389-24_1392del CHEK2:c.1344delT CHEK2:c.1473del (p.Pro492fs) CHEK2:c.681del (p.Pro228fs) CHEK2:c.1143del (p.Pro382fs) CHEK2:c.1344del (p.Pro449fs) CHEK2:c.1257del (p.Pro420fs) CHEK2:c.1334dupA CHEK2:c.1463dup (p.Tyr488Ter) CHEK2:c.671dup (p.Tyr224Ter) CHEK2:c.1133dup (p.Tyr378Ter) CHEK2:c.1334dup (p.Tyr445Ter) CHEK2:c.1247dup (p.Tyr416Ter) CHEK2:c.696dupA CHEK2:c.825dup (p.Glu276fs) CHEK2:c.33dup (p.Glu12fs) CHEK2:c.495dup (p.Glu166fs) CHEK2:c.696dup (p.Glu233fs) CHEK2:c.673delA CHEK2:c.802del (p.Thr268fs) CHEK2:c.10del (p.Thr4fs) CHEK2:c.673del (p.Thr225fs) CHEK2:c.482+5481del CHEK2:c.360delC CHEK2:c.489del (p.Cys164fs) CHEK2:c.-418del CHEK2:c.360del (p.Cys121fs) CHEK2:c.1288+1G>C CHEK2:c.1174+1G>C CHEK2:c.1375+1G>C CHEK2:c.712+1G>C CHEK2:c.1504+1G>C CHEK2:c.908+2T>C CHEK2:c.707+2T>C CHEK2:c.245+2T>C CHEK2:c.1037+2T>C CHEK2:c.1118dup CHEK2:c.1247dup (p.Ile417fs) CHEK2:c.455dup (p.Ile153fs) CHEK2:c.917dup (p.Ile307fs) CHEK2:c.1118dup (p.Ile374fs) CHEK2:c.1031dup (p.Ile345fs) CHEK2:c.948del CHEK2:c.1077del (p.Asn359fs) CHEK2:c.285del (p.Asn95fs) CHEK2:c.747del (p.Asn249fs) CHEK2:c.948del (p.Asn316fs) CHEK2:c.581del (p.Gly194fs) CHEK2:c.-326del CHEK2:c.452del (p.Gly151fs) CHEK2:c.444+126del CHEK2:c.452del CHEK2:c.397del CHEK2:c.526del (p.Thr176fs) CHEK2:c.-381del CHEK2:c.397del (p.Thr133fs) CHEK2:c.305del CHEK2:c.305del (p.Gly102fs) CHEK2:c.-473del CHEK2:c.291G>A CHEK2:c.291G>A (p.Trp97Ter) CHEK2:c.-487G>A CHEK2:c.234_262del CHEK2:c.234_262del (p.Gln78fs) CHEK2:c.-544_-516del CHEK2:c.199del CHEK2:c.199del (p.Ser67fs) CHEK2:c.-579del CHEK2:c.183del (p.Ser62fs) CHEK2:c.-595del CHEK2:c.183del CHEK2:c.1260-1G>T CHEK2:c.1173-1G>T CHEK2:c.1059-1G>T CHEK2:c.597-1G>T CHEK2:c.1389-1G>T CHEK2:c.1172T>G (p.Leu391Ter) CHEK2:c.380T>G (p.Leu127Ter) CHEK2:c.842T>G (p.Leu281Ter) CHEK2:c.1043T>G (p.Leu348Ter) CHEK2:c.1009-1080T>G CHEK2:c.1043T>G CHEK2:c.1430del CHEK2:c.1559del (p.Thr520fs) CHEK2:c.767del (p.Thr256fs) CHEK2:c.1430del (p.Thr477fs) CHEK2:c.1343del (p.Thr448fs) CHEK2:c.1371_1372del CHEK2:c.1500_1501del (p.Lys501fs) CHEK2:c.708_709del (p.Lys237fs) CHEK2:c.1170_1171del (p.Lys391fs) CHEK2:c.1371_1372del (p.Lys458fs) CHEK2:c.1284_1285del (p.Lys429fs) CHEK2:c.906del CHEK2:c.1035del (p.Glu345fs) CHEK2:c.243del (p.Glu81fs) CHEK2:c.705del (p.Glu235fs) CHEK2:c.906del (p.Glu302fs) CHEK2:c.842dup CHEK2:c.971dup (p.Asn324fs) CHEK2:c.179dup (p.Asn60fs) CHEK2:c.641dup (p.Asn214fs) CHEK2:c.842dup (p.Asn281fs) CHEK2:c.806_807del CHEK2:c.935_936del (p.Asn312fs) CHEK2:c.143_144del (p.Asn48fs) CHEK2:c.605_606del (p.Asn202fs) CHEK2:c.806_807del (p.Asn269fs) CHEK2:c.543_549del CHEK2:c.672_678del (p.Pro225fs) CHEK2:c.-235_-229del CHEK2:c.543_549del (p.Pro182fs) CHEK2:c.445-103_445-97del CHEK2:c.467dup CHEK2:c.596dup (p.Tyr199Ter) CHEK2:c.-311dup CHEK2:c.467dup (p.Tyr156Ter) CHEK2:c.444+141dup CHEK2:c.1419dup (p.Arg474Ter) CHEK2:c.627dup (p.Arg210Ter) CHEK2:c.1089dup (p.Arg364Ter) CHEK2:c.1290dup (p.Arg431Ter) CHEK2:c.1203dup (p.Arg402Ter) CHEK2:c.1290dup CHEK2:c.776del CHEK2:c.905del (p.Gly302fs) CHEK2:c.113del (p.Gly38fs) CHEK2:c.575del (p.Gly192fs) CHEK2:c.776del (p.Gly259fs) CHEK2:c.321_324del CHEK2:c.450_453del (p.Lys150_Cys151insTer) CHEK2:c.-457_-454del CHEK2:c.321_324del (p.Glu107_Cys108insTer) CHEK2:c.1485G>A CHEK2:c.1356G>A CHEK2:c.1485G>A (p.Trp495Ter) CHEK2:c.693G>A (p.Trp231Ter) CHEK2:c.1155G>A (p.Trp385Ter) CHEK2:c.1356G>A (p.Trp452Ter) CHEK2:c.1269G>A (p.Trp423Ter) CHEK2:c.1193del CHEK2:c.1322del (p.Ser441fs) CHEK2:c.530del (p.Ser177fs) CHEK2:c.992del (p.Ser331fs) CHEK2:c.1193del (p.Ser398fs) CHEK2:c.1106del (p.Ser369fs) CHEK2:c.1074del (p.Asn359fs) CHEK2:c.282del (p.Asn95fs) CHEK2:c.744del (p.Asn249fs) CHEK2:c.945del (p.Asn316fs) CHEK2:c.945del CHEK2:c.636T>G CHEK2:c.765T>G (p.Tyr255Ter) CHEK2:c.-28T>G CHEK2:c.636T>G (p.Tyr212Ter) CHEK2:c.482+5444T>G CHEK2:c.938del CHEK2:c.1067del (p.Val356fs) CHEK2:c.275del (p.Val92fs) CHEK2:c.737del (p.Val246fs) CHEK2:c.938del (p.Val313fs) CHEK2:c.684-2A>T CHEK2:c.483-2A>T CHEK2:c.21-2A>T CHEK2:c.813-2A>T CHEK2:c.1288+2T>C CHEK2:c.1174+2T>C CHEK2:c.1375+2T>C CHEK2:c.712+2T>C CHEK2:c.1504+2T>C CHEK2:c.847-12_847-2del CHEK2:c.646-12_646-2del CHEK2:c.184-12_184-2del CHEK2:c.976-12_976-2del CHEK2:c.593-2A>G CHEK2:c.482+5399A>G CHEK2:c.-71-2A>G CHEK2:c.722-2A>G CHEK2:c.1561G>T (p.Glu521Ter) CHEK2:c.769G>T (p.Glu257Ter) CHEK2:c.1231G>T (p.Glu411Ter) CHEK2:c.1432G>T (p.Glu478Ter) CHEK2:c.1345G>T (p.Glu449Ter) CHEK2:c.1549del (p.Arg517fs) CHEK2:c.757del (p.Arg253fs) CHEK2:c.1219del (p.Arg407fs) CHEK2:c.1420del (p.Arg474fs) CHEK2:c.1333del (p.Arg445fs) CHEK2:c.1461del (p.Lys487fs) CHEK2:c.669del (p.Lys223fs) CHEK2:c.1131del (p.Lys377fs) CHEK2:c.1332del (p.Lys444fs) CHEK2:c.1245del (p.Lys415fs) CHEK2:c.1375dup (p.Ile459fs) CHEK2:c.583dup (p.Ile195fs) CHEK2:c.1045dup (p.Ile349fs) CHEK2:c.1246dup (p.Ile416fs) CHEK2:c.1159dup (p.Ile387fs) CHEK2:c.1097_1098del (p.Thr366fs) CHEK2:c.305_306del (p.Thr102fs) CHEK2:c.767_768del (p.Thr256fs) CHEK2:c.968_969del (p.Thr323fs) CHEK2:c.959T>A (p.Leu320Ter) CHEK2:c.167T>A (p.Leu56Ter) CHEK2:c.629T>A (p.Leu210Ter) CHEK2:c.830T>A (p.Leu277Ter) CHEK2:c.916G>T (p.Glu306Ter) CHEK2:c.124G>T (p.Glu42Ter) CHEK2:c.586G>T (p.Glu196Ter) CHEK2:c.787G>T (p.Glu263Ter) CHEK2:c.879del (p.Ile294fs) CHEK2:c.87del (p.Ile30fs) CHEK2:c.549del (p.Ile184fs) CHEK2:c.750del (p.Ile251fs) CHEK2:c.847del (p.Arg283fs) CHEK2:c.55del (p.Arg19fs) CHEK2:c.517del (p.Arg173fs) CHEK2:c.718del (p.Arg240fs) CHEK2:c.793_805del (p.Met265fs) CHEK2:c.1_13del (p.Met1fs) CHEK2:c.664_676del (p.Met222fs) CHEK2:c.482+5472_482+5484del CHEK2:c.792_793insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met265fs) CHEK2:c.-1_1insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met1fs) CHEK2:c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) CHEK2:c.482+5471_482+5472insAAGAGATGAATACATCGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAA CHEK2:c.787dup (p.Tyr263fs) CHEK2:c.-6dup CHEK2:c.658dup (p.Tyr220fs) CHEK2:c.482+5466dup CHEK2:c.677del (p.Pro225_Leu226insTer) CHEK2:c.-230del CHEK2:c.548del (p.Pro182_Leu183insTer) CHEK2:c.445-98del CHEK2:c.674dup (p.Leu226fs) CHEK2:c.-233dup CHEK2:c.545dup (p.Leu183fs) CHEK2:c.445-102dup CHEK2:c.600del (p.Ile200fs) CHEK2:c.-307del CHEK2:c.471del (p.Ile157fs) CHEK2:c.444+145del CHEK2:c.478del (p.Arg160fs) CHEK2:c.-429del CHEK2:c.349del (p.Arg117fs) CHEK2:c.82del (p.Ser28fs) CHEK2:c.-696del CHEK2:c.55del (p.Ser19fs) CHEK2:c.-723del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.895-2A>G CHEK2:c.1096-2A>G CHEK2:c.433-2A>G CHEK2:c.1225-2A>G CHEK2:c.903_908+26del CHEK2:c.702_707+26del CHEK2:c.240_245+26del CHEK2:c.1032_1037+26del CHEK2:c.624_625insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn209fs) CHEK2:c.-298_-283AGA[2]TCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC[1] CHEK2:c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) CHEK2:c.445-151_445-150insAGAAGATCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAA CHEK2:c.1252_1253del (p.Leu418fs) CHEK2:c.460_461del (p.Leu154fs) CHEK2:c.922_923del (p.Leu308fs) CHEK2:c.1123_1124del (p.Leu375fs) CHEK2:c.1036_1037del (p.Leu346fs) CHEK2:c.1143_1165dup (p.Arg389fs) CHEK2:c.351_373dup (p.Arg125fs) CHEK2:c.813_835dup (p.Arg279fs) CHEK2:c.1014_1036dup (p.Arg346fs) CHEK2:c.1009-1109_1009-1087dup CHEK2:c.633del (p.Phe212fs) CHEK2:c.-274del CHEK2:c.504del (p.Phe169fs) CHEK2:c.445-142del CHEK2:c.676_677del (p.Leu226fs) CHEK2:c.-231_-230del CHEK2:c.547_548del (p.Leu183fs) CHEK2:c.445-99_445-98del CHEK2:c.6_10delTCGGG CHEK2:c.6_10del (p.Arg3fs) CHEK2:c.-772_-768del CHEK2:c.445-8_446del CHEK2:c.444+111_444+120del CHEK2:c.-333-8_-332del CHEK2:c.574-8_575del CHEK2:c.1021del (p.Tyr341fs) CHEK2:c.229del (p.Tyr77fs) CHEK2:c.691del (p.Tyr231fs) CHEK2:c.892del (p.Tyr298fs) CHEK2:c.1338_1362dup (p.Ser455delinsValTer) CHEK2:c.546_570dup (p.Ser191delinsValTer) CHEK2:c.1008_1032dup (p.Ser345delinsValTer) CHEK2:c.1209_1233dup (p.Ser412delinsValTer) CHEK2:c.1122_1146dup (p.Ser383delinsValTer) CHEK2:c.320-2A>G CHEK2:c.-458-2A>G CHEK2:c.449-2A>G CHEK2:c.1159del (p.Ile387fs) CHEK2:c.367del (p.Ile123fs) CHEK2:c.829del (p.Ile277fs) CHEK2:c.1030del (p.Ile344fs) CHEK2:c.1009-1093del CHEK2:c.46_61del (p.Ser16fs) CHEK2:c.-732_-717del CHEK2:c.1443del (p.Gln482fs) CHEK2:c.651del (p.Gln218fs) CHEK2:c.1113del (p.Gln372fs) CHEK2:c.1314del (p.Gln439fs) CHEK2:c.1227del (p.Gln410fs) CHEK2:c.94del (p.Ser32fs) CHEK2:c.-684del CHEK2:c.408C>G CHEK2:c.537C>G (p.Tyr179Ter) CHEK2:c.-370C>G CHEK2:c.408C>G (p.Tyr136Ter) CHEK2:c.1464C>A (p.Tyr488Ter) CHEK2:c.672C>A (p.Tyr224Ter) CHEK2:c.1134C>A (p.Tyr378Ter) CHEK2:c.1335C>A (p.Tyr445Ter) CHEK2:c.1248C>A (p.Tyr416Ter) CHEK2:c.16delG CHEK2:c.16del (p.Asp6fs) CHEK2:c.-762del CHEK2:c.1190T>A (p.Leu397Ter) CHEK2:c.398T>A (p.Leu133Ter) CHEK2:c.860T>A (p.Leu287Ter) CHEK2:c.1061T>A (p.Leu354Ter) CHEK2:c.1009-1062T>A CHEK2:c.492T>A (p.Cys164Ter) CHEK2:c.-415T>A CHEK2:c.363T>A (p.Cys121Ter) CHEK2:c.1009-1026T>C CHEK2:c.894+2T>C CHEK2:c.1095+2T>C CHEK2:c.432+2T>C CHEK2:c.1224+2T>C CHEK2:c.205C>T CHEK2:c.205C>T (p.Gln69Ter) CHEK2:c.-573C>T CHEK2:c.1337delA CHEK2:c.1466del (p.Asn489fs) CHEK2:c.674del (p.Asn225fs) CHEK2:c.1136del (p.Asn379fs) CHEK2:c.1337del (p.Asn446fs) CHEK2:c.1250del (p.Asn417fs) CHEK2:c.894T>G CHEK2:c.1023T>G (p.Tyr341Ter) CHEK2:c.231T>G (p.Tyr77Ter) CHEK2:c.693T>G (p.Tyr231Ter) CHEK2:c.894T>G (p.Tyr298Ter) CHEK2:c.876delT CHEK2:c.1005del (p.Phe335fs) CHEK2:c.213del (p.Phe71fs) CHEK2:c.675del (p.Phe225fs) CHEK2:c.876del (p.Phe292fs) CHEK2:c.1459C>T CHEK2:c.1588C>T (p.Gln530Ter) CHEK2:c.796C>T (p.Gln266Ter) CHEK2:c.1258C>T (p.Gln420Ter) CHEK2:c.1459C>T (p.Gln487Ter) CHEK2:c.1372C>T (p.Gln458Ter) CHEK2:c.1188delT CHEK2:c.1317del (p.Val440fs) CHEK2:c.525del (p.Val176fs) CHEK2:c.987del (p.Val330fs) CHEK2:c.1188del (p.Val397fs) CHEK2:c.1101del (p.Val368fs) CHEK2:c.847-1G>A CHEK2:c.646-1G>A CHEK2:c.184-1G>A CHEK2:c.976-1G>A CHEK2:c.683+1G>A CHEK2:c.482+5492G>A CHEK2:c.20+1G>A CHEK2:c.812+1G>A CHEK2:c.902T>A CHEK2:c.1031T>A (p.Leu344Ter) CHEK2:c.239T>A (p.Leu80Ter) CHEK2:c.701T>A (p.Leu234Ter) CHEK2:c.902T>A (p.Leu301Ter) CHEK2:c.860delA CHEK2:c.989del (p.Lys330fs) CHEK2:c.197del (p.Lys66fs) CHEK2:c.659del (p.Lys220fs) CHEK2:c.860del (p.Lys287fs) CHEK2:c.823delG CHEK2:c.952del (p.Glu318fs) CHEK2:c.160del (p.Glu54fs) CHEK2:c.622del (p.Glu208fs) CHEK2:c.823del (p.Glu275fs) CHEK2:c.28C>T CHEK2:c.28C>T (p.Gln10Ter) CHEK2:c.-750C>T CHEK2:c.1164dupC CHEK2:c.1293dup (p.Thr432fs) CHEK2:c.501dup (p.Thr168fs) CHEK2:c.963dup (p.Thr322fs) CHEK2:c.1164dup (p.Thr389fs) CHEK2:c.1077dup (p.Thr360fs) CHEK2:c.1259+1G>T CHEK2:c.1172+1G>T CHEK2:c.1058+1G>T CHEK2:c.596+1G>T CHEK2:c.1388+1G>T CHEK2:c.846+1G>A CHEK2:c.645+1G>A CHEK2:c.183+1G>A CHEK2:c.975+1G>A CHEK2:c.232C>T CHEK2:c.232C>T (p.Gln78Ter) CHEK2:c.-546C>T CHEK2:c.1240G>T CHEK2:c.1369G>T (p.Gly457Ter) CHEK2:c.577G>T (p.Gly193Ter) CHEK2:c.1039G>T (p.Gly347Ter) CHEK2:c.1240G>T (p.Gly414Ter) CHEK2:c.1153G>T (p.Gly385Ter) CHEK2:c.152_155dup CHEK2:c.152_155dup (p.Ser53fs) CHEK2:c.-626_-623dup CHEK2:c.577_578delCT CHEK2:c.706_707del (p.Leu236fs) CHEK2:c.-201_-200del CHEK2:c.577_578del (p.Leu193fs) CHEK2:c.445-69_445-68del CHEK2:c.1451delC CHEK2:c.1580del (p.Pro527fs) CHEK2:c.788del (p.Pro263fs) CHEK2:c.1250del (p.Pro417fs) CHEK2:c.1451del (p.Pro484fs) CHEK2:c.1364del (p.Pro455fs) CHEK2:c.1008+2T>G CHEK2:c.807+2T>G CHEK2:c.345+2T>G CHEK2:c.1137+2T>G CHEK2:c.133delA CHEK2:c.133del (p.Thr45fs) CHEK2:c.-645del CHEK2:c.319+1G>A CHEK2:c.-459+1G>A CHEK2:c.433delC CHEK2:c.562del (p.Arg188fs) CHEK2:c.-345del CHEK2:c.433del (p.Arg145fs) CHEK2:c.893_897delATATT CHEK2:c.1022_1026del (p.Tyr341fs) CHEK2:c.230_234del (p.Tyr77fs) CHEK2:c.692_696del (p.Tyr231fs) CHEK2:c.893_897del (p.Tyr298fs) CHEK2:c.1564G>T (p.Glu522Ter) CHEK2:c.772G>T (p.Glu258Ter) CHEK2:c.1234G>T (p.Glu412Ter) CHEK2:c.1435G>T (p.Glu479Ter) CHEK2:c.1348G>T (p.Glu450Ter) CHEK2:c.1435G>T CHEK2:c.909-1G>A CHEK2:c.708-1G>A CHEK2:c.246-1G>A CHEK2:c.1038-1G>A CHEK2:c.1209_1233del CHEK2:c.1338_1362del (p.Tyr447fs) CHEK2:c.546_570del (p.Tyr183fs) CHEK2:c.1008_1032del (p.Tyr337fs) CHEK2:c.1209_1233del (p.Tyr404fs) CHEK2:c.1122_1146del (p.Tyr375fs) CHEK2:c.606dup CHEK2:c.735dup (p.Asp246Ter) CHEK2:c.-58dup CHEK2:c.606dup (p.Asp203Ter) CHEK2:c.482+5409dup CHEK2:c.735dupT CHEK2:c.100C>T CHEK2:c.100C>T (p.Gln34Ter) CHEK2:c.-678C>T CHEK2:c.1461+1G>T CHEK2:c.1374+1G>T CHEK2:c.1260+1G>T CHEK2:c.798+1G>T CHEK2:c.1590+1G>T CHEK2:c.706delC CHEK2:c.835del (p.Leu279fs) CHEK2:c.43del (p.Leu15fs) CHEK2:c.505del (p.Leu169fs) CHEK2:c.706del (p.Leu236fs) CHEK2:c.1009-1G>A CHEK2:c.1009-1115G>A CHEK2:c.808-1G>A CHEK2:c.346-1G>A CHEK2:c.1138-1G>A CHEK2:c.1108dup (p.Tyr370fs) CHEK2:c.316dup (p.Tyr106fs) CHEK2:c.778dup (p.Tyr260fs) CHEK2:c.979dup (p.Tyr327fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) CHEK2:c.79C>T CHEK2:c.79C>T (p.Gln27Ter) CHEK2:c.-699C>T CHEK2:c.118_133delAGCTCCTCTACCAGCA CHEK2:c.118_133del (p.Ser40fs) CHEK2:c.-660_-645del CHEK2:c.1465G>T CHEK2:c.1594G>T (p.Glu532Ter) CHEK2:c.802G>T (p.Glu268Ter) CHEK2:c.1264G>T (p.Glu422Ter) CHEK2:c.1465G>T (p.Glu489Ter) CHEK2:c.1378G>T (p.Glu460Ter) CHEK2:c.400_401del CHEK2:c.529_530del (p.Thr176_Asp177insTer) CHEK2:c.-378_-377del CHEK2:c.400_401del (p.Thr133_Asp134insTer) CHEK2:c.621delT CHEK2:c.750del (p.Asp250fs) CHEK2:c.-43del CHEK2:c.621del (p.Asp207fs) CHEK2:c.482+5429del CHEK2:c.792_792+1delAG CHEK2:c.792_792+1del CHEK2:c.591_591+1del CHEK2:c.129_129+1del CHEK2:c.921_921+1del CHEK2:c.1095+2T>G CHEK2:c.1009-1026T>G CHEK2:c.894+2T>G CHEK2:c.432+2T>G CHEK2:c.1224+2T>G CHEK2:c.988C>T CHEK2:c.1117C>T (p.Gln373Ter) CHEK2:c.325C>T (p.Gln109Ter) CHEK2:c.787C>T (p.Gln263Ter) CHEK2:c.988C>T (p.Gln330Ter) CHEK2:c.445-2A>G CHEK2:c.444+117A>G CHEK2:c.-333-2A>G CHEK2:c.574-2A>G CHEK2:c.575C>A CHEK2:c.704C>A (p.Ser235Ter) CHEK2:c.-203C>A CHEK2:c.575C>A (p.Ser192Ter) CHEK2:c.445-71C>A CHEK2:c.252del (p.Glu84fs) CHEK2:c.-526del CHEK2:c.252del CHEK2:c.605_606delTT CHEK2:c.734_735del (p.Phe244_Phe245insTer) CHEK2:c.-59_-58del CHEK2:c.605_606del (p.Phe201_Phe202insTer) CHEK2:c.482+5413_482+5414del CHEK2:c.578del (p.Val193fs) CHEK2:c.-329del CHEK2:c.449del (p.Val150fs) CHEK2:c.444+123del CHEK2:c.449del CHEK2:c.1375+1G>A CHEK2:c.1288+1G>A CHEK2:c.1174+1G>A CHEK2:c.712+1G>A CHEK2:c.1504+1G>A CHEK2:c.1230C>A CHEK2:c.1359C>A (p.Cys453Ter) CHEK2:c.567C>A (p.Cys189Ter) CHEK2:c.1029C>A (p.Cys343Ter) CHEK2:c.1230C>A (p.Cys410Ter) CHEK2:c.1143C>A (p.Cys381Ter) CHEK2:c.995del CHEK2:c.1124del (p.Leu375fs) CHEK2:c.332del (p.Leu111fs) CHEK2:c.794del (p.Leu265fs) CHEK2:c.995del (p.Leu332fs) CHEK2:c.989del CHEK2:c.1118del (p.Gln373fs) CHEK2:c.326del (p.Gln109fs) CHEK2:c.788del (p.Gln263fs) CHEK2:c.989del (p.Gln330fs) CHEK2:c.763A>T CHEK2:c.892A>T (p.Lys298Ter) CHEK2:c.100A>T (p.Lys34Ter) CHEK2:c.562A>T (p.Lys188Ter) CHEK2:c.763A>T (p.Lys255Ter) CHEK2:c.788_791del (p.Tyr263fs) CHEK2:c.-5_-2del CHEK2:c.659_662del (p.Tyr220fs) CHEK2:c.482+5467_482+5470del CHEK2:c.659_662del CHEK2:c.194_195del CHEK2:c.194_195del (p.Thr65fs) CHEK2:c.-584_-583del CHEK2:c.159_160del CHEK2:c.159_160del (p.His54fs) CHEK2:c.-621TC[1] CHEK2:c.1400del CHEK2:c.1529del (p.Leu510fs) CHEK2:c.737del (p.Leu246fs) CHEK2:c.1199del (p.Leu400fs) CHEK2:c.1400del (p.Leu467fs) CHEK2:c.1313del (p.Leu438fs) CHEK2:c.1489_1490del (p.Glu497fs) CHEK2:c.697_698del (p.Glu233fs) CHEK2:c.1159_1160del (p.Glu387fs) CHEK2:c.1360_1361del (p.Glu454fs) CHEK2:c.1273_1274del (p.Glu425fs) CHEK2:c.1360_1361del CHEK2:c.1067C>G CHEK2:c.1196C>G (p.Ser399Ter) CHEK2:c.404C>G (p.Ser135Ter) CHEK2:c.866C>G (p.Ser289Ter) CHEK2:c.1067C>G (p.Ser356Ter) CHEK2:c.1009-1056C>G CHEK2:c.186del CHEK2:c.186del (p.Ser62_Leu63insTer) CHEK2:c.-592del CHEK2:c.444_444+1del CHEK2:c.-334_-334+1del CHEK2:c.573_573+1del CHEK2:c.792+2T>G CHEK2:c.591+2T>G CHEK2:c.129+2T>G CHEK2:c.921+2T>G CHEK2:c.1348G>T CHEK2:c.1477G>T (p.Glu493Ter) CHEK2:c.685G>T (p.Glu229Ter) CHEK2:c.1147G>T (p.Glu383Ter) CHEK2:c.1261G>T (p.Glu421Ter) CHEK2:c.1210_1219del CHEK2:c.1339_1348del (p.Tyr447fs) CHEK2:c.547_556del (p.Tyr183fs) CHEK2:c.1009_1018del (p.Tyr337fs) CHEK2:c.1210_1219del (p.Tyr404fs) CHEK2:c.1123_1132del (p.Tyr375fs) CHEK2:c.870_871insCTAC CHEK2:c.999_1000insCTAC (p.Phe334fs) CHEK2:c.207_208insCTAC (p.Phe70fs) CHEK2:c.669_670insCTAC (p.Phe224fs) CHEK2:c.870_871insCTAC (p.Phe291fs) CHEK2:c.862_865del (p.Lys287_Lys288insTer) CHEK2:c.70_73del (p.Lys23_Lys24insTer) CHEK2:c.532_535del (p.Lys177_Lys178insTer) CHEK2:c.733_736del (p.Lys244_Lys245insTer) CHEK2:c.733_736del CHEK2:c.267_268insT CHEK2:c.267_268insT (p.Pro90fs) CHEK2:c.-511_-510insT CHEK2:c.98C>A CHEK2:c.98C>A (p.Ser33Ter) CHEK2:c.-680C>A CHEK2:c.733A>T CHEK2:c.862A>T (p.Lys288Ter) CHEK2:c.70A>T (p.Lys24Ter) CHEK2:c.532A>T (p.Lys178Ter) CHEK2:c.733A>T (p.Lys245Ter) CHEK2:c.209_216del (p.Glu70fs) CHEK2:c.-569_-562del CHEK2:c.209_216del CHEK2:c.684-5_684-2delinsC CHEK2:c.483-5_483-2delinsC CHEK2:c.21-5_21-2delinsC CHEK2:c.813-5_813-2delinsC CHEK2:c.1210_1211insTT CHEK2:c.1339_1340insTT (p.Tyr447fs) CHEK2:c.547_548insTT (p.Tyr183fs) CHEK2:c.1009_1010insTT (p.Tyr337fs) CHEK2:c.1210_1211insTT (p.Tyr404fs) CHEK2:c.1123_1124insTT (p.Tyr375fs) CHEK2:c.726_727del CHEK2:c.855_856del (p.Thr285_Cys286insTer) CHEK2:c.63_64del (p.Thr21_Cys22insTer) CHEK2:c.525_526del (p.Thr175_Cys176insTer) CHEK2:c.726_727del (p.Thr242_Cys243insTer) CHEK2:c.666del (p.Lys222fs) CHEK2:c.-241del CHEK2:c.537del (p.Lys179fs) CHEK2:c.445-109del CHEK2:c.537del CHEK2:c.597C>G CHEK2:c.468C>G CHEK2:c.597C>G (p.Tyr199Ter) CHEK2:c.-310C>G CHEK2:c.444+142C>G CHEK2:c.803_804del CHEK2:c.932_933del (p.Leu311fs) CHEK2:c.140_141del (p.Leu47fs) CHEK2:c.602_603del (p.Leu201fs) CHEK2:c.803_804del (p.Leu268fs) CHEK2:c.792+2T>A CHEK2:c.591+2T>A CHEK2:c.129+2T>A CHEK2:c.921+2T>A CHEK2:c.1050del CHEK2:c.1179del (p.Glu394fs) CHEK2:c.387del (p.Glu130fs) CHEK2:c.849del (p.Glu284fs) CHEK2:c.1050del (p.Glu351fs) CHEK2:c.1009-1073del CHEK2:c.1092del (p.Ala365fs) CHEK2:c.300del (p.Ala101fs) CHEK2:c.762del (p.Ala255fs) CHEK2:c.963del (p.Ala322fs) CHEK2:c.963del CHEK2:c.391A>T CHEK2:c.520A>T (p.Lys174Ter) CHEK2:c.-387A>T CHEK2:c.391A>T (p.Lys131Ter) CHEK2:c.64del CHEK2:c.64del (p.His22fs) CHEK2:c.-714del CHEK2:c.684-1del CHEK2:c.483-1del CHEK2:c.21-1del CHEK2:c.813-1del CHEK2:c.1584G>A (p.Trp528Ter) CHEK2:c.792G>A (p.Trp264Ter) CHEK2:c.1254G>A (p.Trp418Ter) CHEK2:c.1455G>A (p.Trp485Ter) CHEK2:c.1368G>A (p.Trp456Ter) CHEK2:c.1400T>A CHEK2:c.1529T>A (p.Leu510Ter) CHEK2:c.737T>A (p.Leu246Ter) CHEK2:c.1199T>A (p.Leu400Ter) CHEK2:c.1400T>A (p.Leu467Ter) CHEK2:c.1313T>A (p.Leu438Ter) CHEK2:c.1496C>G (p.Ser499Ter) CHEK2:c.704C>G (p.Ser235Ter) CHEK2:c.1166C>G (p.Ser389Ter) CHEK2:c.1367C>G (p.Ser456Ter) CHEK2:c.1280C>G (p.Ser427Ter) CHEK2:c.1491del (p.Val498fs) CHEK2:c.699del (p.Val234fs) CHEK2:c.1161del (p.Val388fs) CHEK2:c.1362del (p.Val455fs) CHEK2:c.1275del (p.Val426fs) CHEK2:c.1393dup (p.Ser465fs) CHEK2:c.601dup (p.Ser201fs) CHEK2:c.1063dup (p.Ser355fs) CHEK2:c.1264dup (p.Ser422fs) CHEK2:c.1177dup (p.Ser393fs) CHEK2:c.1377del (p.Leu460fs) CHEK2:c.585del (p.Leu196fs) CHEK2:c.1047del (p.Leu350fs) CHEK2:c.1248del (p.Leu417fs) CHEK2:c.1161del (p.Leu388fs) CHEK2:c.1196_1206del (p.Leu398_Ser399insTer) CHEK2:c.404_414del (p.Leu134_Ser135insTer) CHEK2:c.866_876del (p.Leu288_Ser289insTer) CHEK2:c.1067_1077del (p.Leu355_Ser356insTer) CHEK2:c.1009-1056_1009-1046del CHEK2:c.1048G>T (p.Gly350Ter) CHEK2:c.256G>T (p.Gly86Ter) CHEK2:c.718G>T (p.Gly240Ter) CHEK2:c.919G>T (p.Gly307Ter) CHEK2:c.897dup (p.Ala300fs) CHEK2:c.105dup (p.Ala36fs) CHEK2:c.567dup (p.Ala190fs) CHEK2:c.768dup (p.Ala257fs) CHEK2:c.853del (p.Thr285fs) CHEK2:c.61del (p.Thr21fs) CHEK2:c.523del (p.Thr175fs) CHEK2:c.724del (p.Thr242fs) CHEK2:c.797_798insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser266_Lys267insTer) CHEK2:c.5_6insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser2_Lys3insTer) CHEK2:c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) CHEK2:c.482+5476_482+5477insTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTCT CHEK2:c.793del (p.Met265fs) CHEK2:c.1del (p.Met1fs) CHEK2:c.664del (p.Met222fs) CHEK2:c.482+5472del CHEK2:c.631del (p.Thr211fs) CHEK2:c.-276del CHEK2:c.502del (p.Thr168fs) CHEK2:c.445-144del CHEK2:c.598del (p.Ile200fs) CHEK2:c.-309del CHEK2:c.469del (p.Ile157fs) CHEK2:c.444+143del CHEK2:c.529_532del (p.Asp177fs) CHEK2:c.-378_-375del CHEK2:c.400_403del (p.Asp134fs) CHEK2:c.488del (p.Ser163fs) CHEK2:c.-419del CHEK2:c.359del (p.Ser120fs) CHEK2:c.33del (p.Gln11fs) CHEK2:c.-745del CHEK2:c.684-2A>G CHEK2:c.483-2A>G CHEK2:c.21-2A>G CHEK2:c.813-2A>G CHEK2:c.1284T>A (p.Cys428Ter) CHEK2:c.954T>A (p.Cys318Ter) CHEK2:c.1155T>A (p.Cys385Ter) CHEK2:c.1068T>A (p.Cys356Ter) CHEK2:c.1048_1049del (p.Gly350fs) CHEK2:c.256_257del (p.Gly86fs) CHEK2:c.718_719del (p.Gly240fs) CHEK2:c.919_920del (p.Gly307fs) CHEK2:c.788_789delAG CHEK2:c.917_918del (p.Glu306fs) CHEK2:c.125_126del (p.Glu42fs) CHEK2:c.587_588del (p.Glu196fs) CHEK2:c.788_789del (p.Glu263fs) CHEK2:c.233_234del (p.Gln78fs) CHEK2:c.-545_-544del CHEK2:c.222del (p.Pro75fs) CHEK2:c.-556del CHEK2:c.106C>T CHEK2:c.106C>T (p.Gln36Ter) CHEK2:c.-672C>T CHEK2:c.41del (p.Gly14fs) CHEK2:c.-737del CHEK2:c.1330_1334del (p.Thr444fs) CHEK2:c.538_542del (p.Thr180fs) CHEK2:c.1000_1004del (p.Thr334fs) CHEK2:c.1201_1205del (p.Thr401fs) CHEK2:c.1114_1118del (p.Thr372fs) CHEK2:c.1470del (p.Phe490fs) CHEK2:c.678del (p.Phe226fs) CHEK2:c.1140del (p.Phe380fs) CHEK2:c.1341del (p.Phe447fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1306delC CHEK2:c.1435del (p.Ser478_Leu479insTer) CHEK2:c.643del (p.Ser214_Leu215insTer) CHEK2:c.1105del (p.Ser368_Leu369insTer) CHEK2:c.1306del (p.Ser435_Leu436insTer) CHEK2:c.1219del (p.Ser406_Leu407insTer) CHEK2:c.1375del (p.Ile459fs) CHEK2:c.583del (p.Ile195fs) CHEK2:c.1045del (p.Ile349fs) CHEK2:c.1246del (p.Ile416fs) CHEK2:c.1227_1237dup (p.Gly413fs) CHEK2:c.435_445dup (p.Gly149fs) CHEK2:c.897_907dup (p.Gly303fs) CHEK2:c.1098_1108dup (p.Gly370fs) CHEK2:c.1011_1021dup (p.Gly341fs) CHEK2:c.891_908+3del CHEK2:c.690_707+3del CHEK2:c.228_245+3del CHEK2:c.1020_1037+3del CHEK2:c.188del (p.Ser62_Leu63insTer) CHEK2:c.-590del CHEK2:c.903_904del (p.Ile301fs) CHEK2:c.111_112del (p.Ile37fs) CHEK2:c.573_574del (p.Ile191fs) CHEK2:c.774_775del (p.Ile258fs) CHEK2:c.1127T>A (p.Leu376Ter) CHEK2:c.335T>A (p.Leu112Ter) CHEK2:c.797T>A (p.Leu266Ter) CHEK2:c.998T>A (p.Leu333Ter) CHEK2:c.32_35del (p.Gln11fs) CHEK2:c.-746_-743del CHEK2:c.1048_1069del (p.Gly350fs) CHEK2:c.256_277del (p.Gly86fs) CHEK2:c.718_739del (p.Gly240fs) CHEK2:c.919_940del (p.Gly307fs) CHEK2:c.1175dup (p.Pro393fs) CHEK2:c.383dup (p.Pro129fs) CHEK2:c.845dup (p.Pro283fs) CHEK2:c.1046dup (p.Pro350fs) CHEK2:c.1009-1077dup CHEK2:c.1299del (p.Leu434fs) CHEK2:c.507del (p.Leu170fs) CHEK2:c.969del (p.Leu324fs) CHEK2:c.1170del (p.Leu391fs) CHEK2:c.1083del (p.Leu362fs) CHEK2:c.490del (p.Cys164fs) CHEK2:c.-417del CHEK2:c.361del (p.Cys121fs) CHEK2:c.872dup (p.Ile293fs) CHEK2:c.80dup (p.Ile29fs) CHEK2:c.542dup (p.Ile183fs) CHEK2:c.743dup (p.Ile250fs) CHEK2:c.889del (p.Arg297fs) CHEK2:c.97del (p.Arg33fs) CHEK2:c.559del (p.Arg187fs) CHEK2:c.760del (p.Arg254fs) CHEK2:c.866_911dup (p.Arg305fs) CHEK2:c.74_119dup (p.Arg41fs) CHEK2:c.536_581dup (p.Arg195fs) CHEK2:c.737_782dup (p.Arg262fs) CHEK2:c.1125_1135del (p.Leu376fs) CHEK2:c.333_343del (p.Leu112fs) CHEK2:c.795_805del (p.Leu266fs) CHEK2:c.996_1006del (p.Leu333fs) CHEK2:c.1493dup (p.Ser499fs) CHEK2:c.701dup (p.Ser235fs) CHEK2:c.1163dup (p.Ser389fs) CHEK2:c.1364dup (p.Ser456fs) CHEK2:c.1277dup (p.Ser427fs) CHEK2:c.557delA CHEK2:c.686del (p.Asn229fs) CHEK2:c.-221del CHEK2:c.557del (p.Asn186fs) CHEK2:c.445-89del CHEK2:c.1508del (p.Leu503fs) CHEK2:c.716del (p.Leu239fs) CHEK2:c.1178del (p.Leu393fs) CHEK2:c.1379del (p.Leu460fs) CHEK2:c.1292del (p.Leu431fs) CHEK2:c.1472_1473del (p.Ile491fs) CHEK2:c.680_681del (p.Ile227fs) CHEK2:c.1142_1143del (p.Ile381fs) CHEK2:c.1343_1344del (p.Ile448fs) CHEK2:c.1256_1257del (p.Ile419fs) CHEK2:c.589_617dup (p.His206delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.-318_-290dup CHEK2:c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.444+134_445-158dup CHEK2:c.577_590del (p.Val193fs) CHEK2:c.-330_-317del CHEK2:c.448_461del (p.Val150fs) CHEK2:c.444+122_444+135del CHEK2:c.471G>A (p.Trp157Ter) CHEK2:c.-436G>A CHEK2:c.342G>A (p.Trp114Ter) CHEK2:c.776dupG CHEK2:c.905dup (p.Ser303fs) CHEK2:c.113dup (p.Ser39fs) CHEK2:c.575dup (p.Ser193fs) CHEK2:c.776dup (p.Ser260fs) CHEK2:c.773del (p.Ala258fs) CHEK2:c.-20del CHEK2:c.644del (p.Ala215fs) CHEK2:c.482+5452del CHEK2:c.1009-1026T>A CHEK2:c.894+2T>A CHEK2:c.1095+2T>A CHEK2:c.432+2T>A CHEK2:c.1224+2T>A CHEK2:c.1222_1223dup (p.Ile409fs) CHEK2:c.430_431dup (p.Ile145fs) CHEK2:c.892_893dup (p.Ile299fs) CHEK2:c.1093_1094dup (p.Ile366fs) CHEK2:c.1009-1030_1009-1029dup CHEK2:c.908del (p.Gly302_Ser303insTer) CHEK2:c.116del (p.Gly38_Ser39insTer) CHEK2:c.578del (p.Gly192_Ser193insTer) CHEK2:c.779del (p.Gly259_Ser260insTer) CHEK2:c.1245del (p.Lys416fs) CHEK2:c.453del (p.Lys152fs) CHEK2:c.915del (p.Lys306fs) CHEK2:c.1116del (p.Lys373fs) CHEK2:c.1029del (p.Lys344fs) CHEK2:c.1581del (p.Trp528fs) CHEK2:c.789del (p.Trp264fs) CHEK2:c.1251del (p.Trp418fs) CHEK2:c.1452del (p.Trp485fs) CHEK2:c.1365del (p.Trp456fs) CHEK2:c.683+2T>A CHEK2:c.482+5493T>A CHEK2:c.20+2T>A CHEK2:c.812+2T>A CHEK2:c.79del (p.Gln27fs) CHEK2:c.-699del CHEK2:c.1531delG CHEK2:c.1660del (p.Val554fs) CHEK2:c.868del (p.Val290fs) CHEK2:c.1330del (p.Val444fs) CHEK2:c.1531del (p.Val511fs) CHEK2:c.1444del (p.Val482fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.607del (p.Tyr202_Ile203insTer) CHEK2:c.-300del CHEK2:c.478del (p.Tyr159_Ile160insTer) CHEK2:c.444+152del CHEK2:c.478delA CHEK2:c.56C>G (p.Ser19Ter) CHEK2:c.-722C>G CHEK2:c.56C>G CHEK2:c.269dup CHEK2:c.269dup (p.Ala91fs) CHEK2:c.-509dup CHEK2:c.597delT CHEK2:c.726del (p.Phe242fs) CHEK2:c.-67del CHEK2:c.597del (p.Phe199fs) CHEK2:c.482+5405del | premature stop missense mutation | A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. Hereditary cancer in clinical practice:2014 | ||||
BRCA1 gene CHEK2 gene ATM gene | Thyroid carcinoma Papillary thyroid carcinoma | 1781 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G | Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma. Genes, chromosomes & cancer:2014 | ||||||
CHEK2 gene | Papillary thyroid carcinoma Thyroid carcinoma Breast Carcinoma multi-organ cancer | 468 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop missense mutation | CHEK2 mutations and the risk of papillary thyroid cancer. International journal of cancer:2015 | ||||
BRCA1 gene RAD51D gene BARD1 gene PALB2 gene ATM gene NBN gene CHEK2 gene BRCA2 gene | Breast Carcinoma hereditary negative breast cancers | 202 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) NBN:c.511A>G (p.Ile171Val) NBN:c.265A>G (p.Ile89Val) BRCA1:c.1483C>T (p.Gln495Ter) BRCA1:c.1477C>T (p.Gln493Ter) BRCA1:c.1474C>T (p.Gln492Ter) BRCA1:c.1706_1709delTAAC (p.Thr570Ilefs) BRCA1:c.1643_1646delTAAC (p.Thr549Ilefs) BRCA1:c.1640_1643delTAAC (p.Thr548Ilefs) BRCA1:c.1637_1640delTAAC (p.Thr547Ilefs) BRCA1:c.1601_1604delTAAC (p.Thr535Ilefs) BRCA1:c.3313C>T (p.Gln1105Ter) BRCA1:c.2929C>T (p.Gln977Ter) BRCA1:c.1213C>T (p.Gln405Ter) BRCA1:c.3817C>T (p.Gln1273Ter) BRCA1:c.3676C>T (p.Gln1226Ter) BRCA1:c.788-682C>T PALB2:c.509_510del (p.Arg170fs) RAD51D:c.576+1G>A RAD51D:c.240+1G>A RAD51D:c.636+1G>A | Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers. PloS one:2015 | ||||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. International journal of clinical and experimental medicine:2015 | |||||
NBN gene CHEK2 gene | Breast Carcinoma | 300 | heterozygous | c.657_662del p.Arg215Trp p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) | polymerase chain reaction | Clinical relevance of CHEK2 and NBN mutations in the macedonian population. Balkan journal of medical genetics : BJMG:2015 | |||
ATM gene CHEK2 gene MUTYH gene MSH2 gene TP53 gene | Breast Carcinoma | 278 | double heterozygous heterozygous | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) TP53:c.55C>A (p.Pro19Thr) TP53:c.334C>A (p.Pro112Thr) TP53:c.-27C>A BRCA2:c.62A>G (p.Lys21Arg) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G PMS2:c.86G>C (p.Gly29Ala) PMS2:c.-130G>C PMS2:c.-320G>C PMS2:c.-799G>C PMS2:c.-399G>C PMS2:c.-52-1911G>C PMS2:c.-242-1911G>C MUTYH:c.1174C>A (p.Leu392Met) MUTYH:c.1258C>A (p.Leu420Met) MUTYH:c.1219C>A (p.Leu407Met) MUTYH:c.1207C>A (p.Leu403Met) MUTYH:c.898C>A (p.Leu300Met) MUTYH:c.829C>A (p.Leu277Met) MUTYH:c.1249C>A (p.Leu417Met) BRCA1:c.966T>G (p.Asp322Glu) BRCA1:c.969T>G (p.Asp323Glu) BRCA1:c.1110T>G (p.Asp370Glu) BRCA1:c.1107T>G (p.Asp369Glu) BRCA1:c.1408G>A (p.Glu470Lys) BRCA1:c.1645G>A (p.Glu549Lys) BRCA1:c.1285G>A (p.Glu429Lys) BRCA1:c.901G>A (p.Glu301Lys) BRCA1:c.1789G>A (p.Glu597Lys) BRCA1:c.1648G>A (p.Glu550Lys) BRCA1:c.787+1002G>A BRCA2:c.502C>A (p.Pro168Thr) BRCA2:c.742G>A (p.Ala248Thr) BRCA2:c.94T>C (p.Phe32Leu) MSH6:c.1932G>C (p.Arg644Ser) MSH6:c.1542G>C (p.Arg514Ser) MSH6:c.1026G>C (p.Arg342Ser) MSH6:c.3245C>T (p.Pro1082Leu) MSH6:c.2855C>T (p.Pro952Leu) MSH6:c.2339C>T (p.Pro780Leu) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MLH1:c.1880G>A (p.Arg627His) MLH1:c.1151G>A (p.Arg384His) MLH1:c.1100G>A (p.Arg367His) MLH1:c.2081G>A (p.Arg694His) MLH1:c.2075G>A (p.Arg692His) MLH1:c.2009G>A (p.Arg670His) MSH2:c.1321A>C (p.Thr441Pro) MSH2:c.1123A>C (p.Thr375Pro) MSH2:c.1321A>C MSH2:c.2503A>C (p.Asn835His) MSH2:c.2503A>C MSH2:c.2305A>C (p.Asn769His) BRCA2:c.2835A>C (p.Lys945Asn) MSH6:c.3203G>A (p.Arg1068Gln) MSH6:c.2813G>A (p.Arg938Gln) MSH6:c.2297G>A (p.Arg766Gln) MSH6:c.3203G>A PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.94C>G (p.Leu32Val) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.7313C>T (p.Thr2438Ile) ATM:c.641-21148G>A ATM:c.*38+5001G>A ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C ATM:c.8156G>A (p.Arg2719His) ATM:c.641-26778C>T ATM:c.695-557C>T ATM:c.8558C>G (p.Thr2853Arg) ATM:c.641-36811G>C ATM:c.695-10590G>C MLH1:c.1126C>G (p.Arg376Gly) MLH1:c.397C>G (p.Arg133Gly) MLH1:c.346C>G (p.Arg116Gly) MLH1:c.1420C>G (p.Arg474Gly) MLH1:c.1321C>G (p.Arg441Gly) MLH1:c.651C>G (p.His217Gln) MLH1:c.-79C>G MLH1:c.945C>G (p.His315Gln) MLH1:c.846C>G (p.His282Gln) MLH1:c.-36-5267C>G PMS2:c.691G>C (p.Asp231His) PMS2:c.778G>C (p.Asp260His) PMS2:c.163G>C (p.Asp55His) PMS2:c.523G>C (p.Asp175His) PMS2:c.1096G>C (p.Asp366His) PMS2:c.787G>C (p.Asp263His) PMS2:c.583+2125G>C PMS2:c.988+2125G>C PMS2:c.-240C>G PMS2:c.166C>G (p.Leu56Val) PMS2:c.-50C>G PMS2:c.-719C>G PMS2:c.-319C>G PMS2:c.215G>A (p.Gly72Glu) PMS2:c.620G>A (p.Gly207Glu) PMS2:c.302G>A (p.Gly101Glu) PMS2:c.-314G>A PMS2:c.311G>A (p.Gly104Glu) PMS2:c.133-1770G>A NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) MRE11:c.529G>A (p.Ala177Thr) CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A TP53:c.*115T>G TP53:c.979T>G (p.Ser327Ala) TP53:c.*203T>G TP53:c.619T>G (p.Ser207Ala) TP53:c.1096T>G TP53:c.1096T>G (p.Ser366Ala) ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) MRE11:c.1090C>T (p.Arg364Ter) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.8558C>T (p.Thr2853Met) ATM:c.641-36811G>A ATM:c.695-10590G>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A MSH2:c.55T>C (p.Phe19Leu) MSH2:c.55T>C MSH2:c.-31+71T>C MSH6:c.1061G>T (p.Gly354Val) MSH6:c.671G>T (p.Gly224Val) MSH6:c.155G>T (p.Gly52Val) TP53:c.604G>C (p.Gly202Arg) TP53:c.*107G>C TP53:c.*19G>C TP53:c.883G>C (p.Gly295Arg) TP53:c.523G>C (p.Gly175Arg) MUTYH:c.206G>A (p.Arg69Gln) MUTYH:c.290G>A (p.Arg97Gln) MUTYH:c.251G>A (p.Arg84Gln) MUTYH:c.239G>A (p.Arg80Gln) MUTYH:c.-71G>A MUTYH:c.-66G>A MUTYH:c.281G>A (p.Arg94Gln) PMS2:c.944G>A (p.Arg315Gln) PMS2:c.626G>A (p.Arg209Gln) PMS2:c.539G>A (p.Arg180Gln) PMS2:c.11G>A (p.Arg4Gln) PMS2:c.371G>A (p.Arg124Gln) PMS2:c.635G>A (p.Arg212Gln) PMS2:c.944G>A TP53:c.374C>T TP53:c.374C>T (p.Thr125Met) TP53:c.257C>T (p.Thr86Met) COL3A1:c.2002C>A (p.Pro668Thr) TP53:c.472C>T (p.Arg158Cys) TP53:c.751C>T (p.Arg251Cys) TP53:c.391C>T (p.Arg131Cys) RAD50:c.1679G>T RAD50:c.1679G>T (p.Ser560Ile) MLH1:c.1879C>G (p.Arg627Gly) MLH1:c.1150C>G (p.Arg384Gly) MLH1:c.1099C>G (p.Arg367Gly) MLH1:c.2080C>G (p.Arg694Gly) MLH1:c.2074C>G (p.Arg692Gly) MLH1:c.2008C>G (p.Arg670Gly) BRIP1:c.2992_2993del (p.Lys998fs) PALB2:c.23C>T (p.Pro8Leu) ATM:c.4087A>G (p.Thr1363Ala) RAD50:c.2177G>A (p.Arg726His) RAD50:c.2177G>A RAD50:c.1253_1254delTT RAD50:c.1253_1254del (p.Phe418fs) NBN:c.1274G>A (p.Arg425Lys) NBN:c.1028G>A (p.Arg343Lys) RAD50:c.260G>A RAD50:c.260G>A (p.Arg87His) CDKN2A:c.104G>C (p.Gly35Ala) CDKN2A:c.-3-3516G>C CDKN2A:c.194-3516G>C ATM:c.6839del ATM:c.6839del (p.Gln2280fs) ATM:c.641-17018del ATM:c.*38+9131del RAD50:c.3824A>G RAD50:c.3824A>G (p.Glu1275Gly) TP53:c.*186G>T TP53:c.*98G>T TP53:c.962G>T (p.Gly321Val) TP53:c.602G>T (p.Gly201Val) TP53:c.1079G>T (p.Gly360Val) BRCA2:c.818C>T (p.Ser273Leu) MSH6:c.3478G>A (p.Val1160Ile) MSH6:c.3088G>A (p.Val1030Ile) MSH6:c.2572G>A (p.Val858Ile) MLH1:c.1878_1879delinsAG (p.Arg627Gly) MLH1:c.1149_1150delinsAG (p.Arg384Gly) MLH1:c.1098_1099delinsAG (p.Arg367Gly) MLH1:c.2079_2080delinsAG (p.Arg694Gly) MLH1:c.2073_2074delinsAG (p.Arg692Gly) MLH1:c.2007_2008delinsAG (p.Arg670Gly) ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T BRCA2:c.4813G>A (p.Val1605Ile) ATM:c.8155C>T (p.Arg2719Cys) ATM:c.641-26777G>A ATM:c.695-556G>A MUTYH:c.887C>T (p.Ser296Leu) MUTYH:c.971C>T (p.Ser324Leu) MUTYH:c.932C>T (p.Ser311Leu) MUTYH:c.920C>T (p.Ser307Leu) MUTYH:c.611C>T (p.Ser204Leu) MUTYH:c.542C>T (p.Ser181Leu) MUTYH:c.962C>T (p.Ser321Leu) STK11:c.976C>A (p.Pro326Thr) MLH1:c.-205G>A MLH1:c.-964G>A MLH1:c.-1077G>A MLH1:c.-986G>A MLH1:c.-747G>A MLH1:c.-645G>A MLH1:c.-742G>A MLH1:c.-974G>A MLH1:c.80G>A (p.Arg27Gln) ATM:c.3601T>A (p.Phe1201Ile) PMS2:c.611A>G (p.Asn204Ser) PMS2:c.293A>G (p.Asn98Ser) PMS2:c.206A>G (p.Asn69Ser) PMS2:c.-323A>G PMS2:c.302A>G (p.Asn101Ser) PMS2:c.133-1779A>G PMS2:c.611A>G BRCA1:c.2087G>T (p.Arg696Ile) BRCA1:c.2324G>T (p.Arg775Ile) BRCA1:c.1964G>T (p.Arg655Ile) BRCA1:c.1580G>T (p.Arg527Ile) BRCA1:c.2468G>T (p.Arg823Ile) BRCA1:c.2327G>T (p.Arg776Ile) BRCA1:c.787+1681G>T MSH6:c.1870G>A (p.Gly624Ser) MSH6:c.1480G>A (p.Gly494Ser) MSH6:c.964G>A (p.Gly322Ser) BRCA2:c.3836A>G (p.Asn1279Ser) ATM:c.5080G>A (p.Ala1694Thr) MSH6:c.1231A>T (p.Arg411Trp) MSH6:c.841A>T (p.Arg281Trp) MSH6:c.325A>T (p.Arg109Trp) ATM:c.8774G>T (p.Gly2925Val) ATM:c.640+32052C>A ATM:c.695-18576C>A BRCA2:c.6463C>G (p.Leu2155Val) CHEK2:c.506T>C CHEK2:c.635T>C (p.Phe212Ser) CHEK2:c.-272T>C CHEK2:c.506T>C (p.Phe169Ser) CHEK2:c.445-140T>C RAD50:c.3358G>C RAD50:c.3358G>C (p.Asp1120His) RAD50:c.1680T>A RAD50:c.1680T>A (p.Ser560Arg) CHEK2:c.163T>G (p.Ser55Ala) CHEK2:c.-615T>G CHEK2:c.163T>G MRE11:c.1378G>T (p.Glu460Ter) | nucleaotide-sequencing | Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genetics in medicine : official journal of the American College of Medical Genetics:2015 | ||||
CHEK2 gene | Stomach Carcinoma Breast Carcinoma | 100 | p.Ile157Thr c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. Oncology:2016 | |||||
CDH1 gene CHEK2 gene | Breast Carcinoma breast | 183 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium. Breast cancer research : BCR:2016 | ||||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||||
BRCA2 gene ATM gene CHEK2 gene PALB2 gene | Breast Carcinoma | c.7271T>G c.1343T>G c.1312G>T c.1036C>T c.715G>A c.538C>T c.349A>G c.3113G>A c.2816T>G c.1592delT | ATM:c.7271T>G (p.Val2424Gly) ATM:c.641-20131A>C ATM:c.*38+6018A>C CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) PALB2:c.1592del (p.Leu531fs) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.3113G>A (p.Trp1038Ter) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T ATM:c.1215del (p.Asn405fs) ATM:c.641-20131A>C (n.641-20131A>C) ATM:c.*38+6018A>C (n.*38+6018A>C) ATM:c.538C>T (p.Gln180Ter) CHEK2:c.1312G>T (p.Val438Phe) CHEK2:c.520G>T (p.Val174Phe) CHEK2:c.982G>T (p.Val328Phe) CHEK2:c.1183G>T (p.Val395Phe) CHEK2:c.1096G>T (p.Val366Phe) CHEK2:c.1009-1087C>T (n.1009-1087C>T) CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.-369C>T (n.-369C>T) CHEK2:c.-429A>G (n.-429A>G) | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of medical genetics:2016 | ||||||
APC gene MSH6 gene RET gene MSH2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary Breast Carcinoma breast/ovarian cancer | 282 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.6024dup BRCA2:c.6024dup (p.Gln2009fs) BRCA1:c.1572dup (p.Lys525Glufs) BRCA1:c.1809dup (p.Lys604Glufs) BRCA1:c.1449dup (p.Lys484Glufs) BRCA1:c.1065dup (p.Lys356Glufs) BRCA1:c.1953dup (p.Lys652Glufs) BRCA1:c.1953dup (p.Lys652fs) BRCA1:c.1812dup (p.Lys605fs) BRCA1:c.787+1166dup MSH6:c.3477C>A (p.Tyr1159Ter) MSH6:c.3087C>A (p.Tyr1029Ter) MSH6:c.2571C>A (p.Tyr857Ter) BRCA2:c.5682C>A (p.Tyr1894Ter) RAD51C:c.502A>T RAD51C:c.502A>T (p.Arg168Ter) RAD51C:c.*1597A>T RET:c.813G>C (p.Lys271Asn) RET:c.693G>C (p.Lys231Asn) RET:c.549G>C (p.Lys183Asn) RET:c.1998G>C (p.Lys666Asn) MSH6:c.3477del (p.Cys1158_Tyr1159insTer) MSH6:c.3087del (p.Cys1028_Tyr1029insTer) MSH6:c.2571del (p.Cys856_Tyr857insTer) BRCA2:c.67+2del (n.67+2del) | Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. Breast cancer research and treatment:2016 | ||||||
XRCC2 gene RAD51D gene RAD51C gene RAD51B gene RAD51 gene FANCM gene FANCC gene FANCA gene BRIP1 gene NLRP2 gene RAD50 gene MRE11 gene ATM gene CHEK2 gene PALB2 gene CDH1 gene STK11 gene TP53 gene PTEN gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast-cancer | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C | Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management. Breast (Edinburgh, Scotland):2016 | |||||||
FANCM gene RAD51D gene RAD51C gene PALB2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma or ovarian | 68 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) RAD51D:c.576+1G>A RAD51D:c.240+1G>A RAD51D:c.636+1G>A | CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC cancer:2017 | |||||
CHEK2 gene | Breast Carcinoma | c.IVS2+1G>A p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | An association study between CHEK2 gene mutations and susceptibility to breast cancer. Comparative clinical pathology:2017 | ||||||
RAD50 gene MRE11 gene PALB2 gene CHEK2 gene | Breast Carcinoma hereditary breast cancer | 235 | c.3790C>T c.1456C>T c.140C>T c.3054G>C c.1492G>T c.686A>G c.3811_3813delGAA c.1276C>T c.1773_1774delAA c.1048C>T c.1245dupC c.2257C>T | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C PALB2:c.3054G>C (p.Glu1018Asp) PALB2:c.3307G>A (p.Val1103Met) PALB2:c.2509G>A (p.Glu837Lys) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) RAD50:c.3790C>T (p.Leu1264Phe) RAD50:c.3790C>T RAD50:c.353T>C RAD50:c.353T>C (p.Ile118Thr) PALB2:c.2257C>T (p.Arg753Ter) PALB2:c.1492G>T (p.Asp498Tyr) CHEK2:c.557A>G CHEK2:c.686A>G (p.Asn229Ser) CHEK2:c.-221A>G CHEK2:c.557A>G (p.Asn186Ser) CHEK2:c.445-89A>G PALB2:c.1048C>T (p.Gln350Ter) RAD50:c.3813_3815del (p.Glu1271del) RAD50:c.3813_3815delAGA PALB2:c.1538C>T (p.Thr513Ile) RAD50:c.3836G>A RAD50:c.3836G>A (p.Arg1279His) RAD50:c.1456C>T RAD50:c.1456C>T (p.Arg486Cys) MRE11:c.140C>T (p.Ala47Val) MRE11:c.1418T>C (p.Leu473Ser) RAD50:c.1048C>T RAD50:c.1048C>T (p.Gln350Ter) CHEK2:c.1016A>G (p.Asp339Gly) CHEK2:c.224A>G (p.Asp75Gly) CHEK2:c.887A>G (p.Asp296Gly) CHEK2:c.686A>G (p.Asp229Gly) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | nucleaotide-sequencing sanger sequencing | Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. Breast cancer research and treatment:2017 | ||||
PALB2 gene RAD51D gene BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate prostate | 692 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T BRCA2:c.6591_6592del (p.Glu2198fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.3170_3174del (p.Lys1057fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4472_4475del (p.Leu1491fs) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.5645C>A (p.Ser1882Ter) BRCA2:c.8575del (p.Gln2859fs) BRCA2:c.517-2A>G BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.6757_6758del (p.Leu2253fs) BRCA2:c.8754+4A>G BRCA2:c.5864C>G (p.Ser1955Ter) BRCA1:c.4009C>T (p.Gln1337Ter) BRCA1:c.913C>T (p.Gln305Ter) BRCA1:c.4222C>T (p.Gln1408Ter) BRCA1:c.4099C>T (p.Gln1367Ter) BRCA1:c.3958C>T (p.Gln1320Ter) BRCA1:c.5075-1G>A BRCA1:c.4934-1G>A BRCA1:c.1763-1G>A BRCA1:c.5138-1G>A BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.2385_2388delAGTT (p.Val796Ilefs) BRCA1:c.2622_2625delAGTT (p.Val875Ilefs) BRCA1:c.2262_2265delAGTT (p.Val755Ilefs) BRCA1:c.1878_1881delAGTT (p.Val627Ilefs) BRCA1:c.2766_2769delAGTT (p.Val923Ilefs) BRCA1:c.2767_2770del (p.Val923fs) BRCA1:c.2626_2629del (p.Val876fs) BRCA1:c.788-1732_788-1729del MSH6:c.642C>G (p.Tyr214Ter) MSH6:c.252C>G (p.Tyr84Ter) MSH6:c.-265C>G PALB2:c.3113G>A (p.Trp1038Ter) ATM:c.1339C>T (p.Arg447Ter) ATM:c.3802del (p.Glu1267_Val1268insTer) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A ATM:c.7630-2A>C ATM:c.641-22806T>G ATM:c.*38+3343T>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A BRIP1:c.2273dup (p.Ala759fs) ATM:c.1402_1403del (p.Lys468fs) ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T ATM:c.4373del (p.Gly1458fs) ATM:c.790del (p.Tyr264fs) CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.226del (p.Ile76fs) PALB2:c.2052del (p.Arg686fs) ATM:c.742C>T (p.Arg248Ter) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del MRE11:c.1222dup (p.Thr408fs) RAD51C:c.181_182delCT RAD51C:c.181_182del (p.Leu61fs) RAD51C:c.709C>T RAD51C:c.709C>T (p.Arg237Ter) MSH2:c.408del MSH2:c.408del (p.Phe136fs) MSH2:c.210del (p.Phe70fs) BRCA2:c.8754+4A>T BARD1:c.457_460dupAAAG BARD1:c.457_460dup (p.Val154fs) BARD1:c.400_403dup (p.Val135fs) BARD1:c.158+27995_158+27998dup BARD1:c.215+15644_215+15647dup BARD1:c.364+10880_364+10883dup BRCA2:c.4544dup (p.Ile1516fs) NBN:c.1958dup (p.Leu654fs) NBN:c.1712dup (p.Leu572fs) ATM:c.5910del ATM:c.5910del (p.Glu1971fs) ATM:c.641-1235del ATM:c.*39-1235del RAD51D:c.386dup (p.Gly130fs) RAD51D:c.326dup (p.Gly110fs) RAD51D:c.145-904dup NBN:c.56del NBN:c.-241del NBN:c.56del (p.Leu18_Leu19insTer) BRCA2:c.4691dup (p.Thr1566fs) BRCA2:c.2097delG (p.Gln699Hisfs) BRCA2:c.2097del (p.Gln699fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) RAD51D:c.264-1G>A RAD51D:c.145-967G>A RAD51D:c.324-1G>A RAD51D:c.814del (p.Thr272fs) RAD51D:c.754del (p.Thr252fs) RAD51D:c.418del (p.Thr140fs) BRCA1:c.2767_2770del (p.Val923IlefsTer?) BRCA1:c.2626_2629del (p.Val876IlefsTer?) BRCA1:c.788-1732_788-1729del (n.788-1732_788-1729del) BRCA2:c.2094del (p.Gln699SerfsTer?) BRCA2:c.4544dup (p.Ile1516AspfsTer13) BRCA2:c.4691dup (p.Thr1566AspfsTer9) BRCA2:c.5364dup (p.Lys1789GlnfsTer18) BRCA2:c.5585_5588del (p.Val1862GlufsTer11) | nucleaotide-sequencing | autosomal dominant | Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53. Urologic oncology:2017 | ||||
CHEK2 gene | Breast Carcinoma | 39139 | c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C | Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. Genetics in medicine : official journal of the American College of Medical Genetics:2017 | |||||
CHEK2 gene POLD1 gene KRAS gene MUTYH gene APC gene | Colorectal Carcinoma mutyh colon polyposis colorectal malignancies | heterozygous | p.Ile157Thr p.Leu460Arg p.Gln293Ter p.Arg245Ser p.Leu111Pro p.Arg245His p.Gly396Asp p.Tyr179Cys p.Gly12Cys p.Leu1564Ter | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) KRAS:c.34G>T KRAS:c.34G>T (p.Gly12Cys) MUTYH:c.248T>C (p.Leu83Pro) MUTYH:c.332T>C (p.Leu111Pro) MUTYH:c.293T>C (p.Leu98Pro) MUTYH:c.281T>C (p.Leu94Pro) MUTYH:c.-29T>C MUTYH:c.-24T>C MUTYH:c.323T>C (p.Leu108Pro) MUTYH:c.650G>A (p.Arg217His) MUTYH:c.734G>A (p.Arg245His) MUTYH:c.695G>A (p.Arg232His) MUTYH:c.683G>A (p.Arg228His) MUTYH:c.374G>A (p.Arg125His) MUTYH:c.305G>A (p.Arg102His) MUTYH:c.725G>A (p.Arg242His) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) APC:c.3624_3628del (p.Glu1208fs) APC:c.3549_3553del (p.Glu1183fs) APC:c.3447_3451del (p.Glu1149fs) APC:c.3078_3082del (p.Glu1026fs) APC:c.3927_3931del (p.Glu1309fs) APC:c.3873_3877del (p.Glu1291fs) APC:c.3981_3985del (p.Glu1327fs) APC:c.3957_3961del (p.Glu1319fs) APC:c.3852_3856del (p.Glu1284fs) APC:c.2577_2580del (p.Asp859fs) APC:c.2472_2475del (p.Asp824fs) APC:c.2463_2466del (p.Asp821fs) APC:c.2424_2427del (p.Asp808fs) APC:c.2370_2373del (p.Asp790fs) APC:c.2274_2277del (p.Asp758fs) APC:c.2244_2247del (p.Asp748fs) APC:c.2169_2172del (p.Asp723fs) APC:c.2067_2070del (p.Asp689fs) APC:c.1698_1701del (p.Asp566fs) APC:c.2547_2550delTAGA MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.241C>T (p.Arg81Trp) MUTYH:c.325C>T (p.Arg109Trp) MUTYH:c.286C>T (p.Arg96Trp) MUTYH:c.274C>T (p.Arg92Trp) MUTYH:c.-36C>T MUTYH:c.-31C>T MUTYH:c.316C>T (p.Arg106Trp) APC:c.1312+5G>A APC:c.1237+5G>A APC:c.934+5G>A APC:c.463+5G>A APC:c.1009+5G>A APC:c.1228+5G>A APC:c.1135+5G>A APC:c.832+5G>A MUTYH:c.1305G>C (p.Gln435His) MUTYH:c.1389G>C (p.Gln463His) MUTYH:c.1350G>C (p.Gln450His) MUTYH:c.1338G>C (p.Gln446His) MUTYH:c.1029G>C (p.Gln343His) MUTYH:c.960G>C (p.Gln320His) MUTYH:c.1380G>C (p.Gln460His) MUTYH:c.1389G>C APC:c.4745T>A (p.Leu1582Ter) APC:c.4721T>A (p.Leu1574Ter) APC:c.4616T>A (p.Leu1539Ter) APC:c.4607T>A (p.Leu1536Ter) APC:c.4568T>A (p.Leu1523Ter) APC:c.4514T>A (p.Leu1505Ter) APC:c.4418T>A (p.Leu1473Ter) APC:c.4388T>A (p.Leu1463Ter) APC:c.4313T>A (p.Leu1438Ter) APC:c.4211T>A (p.Leu1404Ter) APC:c.3842T>A (p.Leu1281Ter) | Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. Clinical genetics:2018 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast | 41 | p.Ile157Thr p.Arg145Trp c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 Germ Line Mutations are Lacking among Familialand Sporadic Breast Cancer Patients in Rwanda Asian Pacific journal of cancer prevention : APJCP:2018 | ||||
NOD2 gene ERCC2 gene BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | p.Glu1008Ter p.Lys751Gln p.Ala1991Val p.Ile157Thr | ERCC2:c.2251A>C (p.Lys751Gln) BRCA2:c.5972C>T (p.Ala1991Val) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA1:c.3406G>T (p.Glu1136Ter) BRCA1:c.3022G>T (p.Glu1008Ter) BRCA1:c.1306G>T (p.Glu436Ter) BRCA1:c.3910G>T (p.Glu1304Ter) BRCA1:c.3769G>T (p.Glu1257Ter) BRCA1:c.788-589G>T | nucleaotide-sequencing | Breast cancer in an 18-year-old female: A fatal case report and literature review. Cancer biology & therapy:2018 | |||||
FANCM gene RAD51D gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | c.556C>T c.5791C>T p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.7007G>C (p.Arg2336Pro) FANCM:c.5791C>T FANCM:c.5713C>T (p.Arg1905Ter) FANCM:c.5791C>T (p.Arg1931Ter) RAD51D:c.556C>T (p.Arg186Ter) RAD51D:c.616C>T (p.Arg206Ter) RAD51D:c.220C>T (p.Arg74Ter) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA2:c.5791C>T (p.Gln1931Ter) BRCA1:c.391C>T (p.His131Tyr) BRCA1:c.682C>T (p.His228Tyr) BRCA1:c.685C>T (p.His229Tyr) BRCA1:c.4204C>T (p.His1402Tyr) BRCA1:c.4063C>T (p.His1355Tyr) BRCA1:c.895C>T (p.His299Tyr) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | nucleaotide-sequencing | Mutational analysis of candidate genes in Israeli male breast cancer cases. Breast cancer research and treatment:2018 | |||||
WRN gene TP53 gene RAD51C gene FANCM gene ERCC5 gene CHEK2 gene ATM gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary hereditary breast and ovarian cancer breast and ovarian cancer | 101 | ATM:c.3245_3247delinsTGAT (p.His1082fs) WRN:c.1105C>T (p.Arg369Ter) WRN:c.1105C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) TP53:c.422G>A (p.Arg141His) TP53:c.701G>A (p.Arg234His) TP53:c.341G>A (p.Arg114His) NF1:c.7595C>T (p.Ala2532Val) NF1:c.7532C>T (p.Ala2511Val) MLH1:c.-291C>T MLH1:c.-1050C>T MLH1:c.-1163C>T MLH1:c.-1072C>T MLH1:c.-833C>T MLH1:c.-731C>T MLH1:c.-828C>T MLH1:c.-1060C>T MLH1:c.-7C>T MLH1:c.509A>G (p.Glu170Gly) MLH1:c.803A>G (p.Glu268Gly) MLH1:c.704A>G (p.Glu235Gly) MLH1:c.-139-2792A>G MLH1:c.-37+2974A>G MSH2:c.2503A>C (p.Asn835His) MSH2:c.2503A>C MSH2:c.2305A>C (p.Asn769His) ATM:c.4324T>C (p.Tyr1442His) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T BRIP1:c.2087C>T (p.Pro696Leu) RAD51C:c.1026+5_1026+7del RAD51C:c.1026+5_1026+7delGTA ATM:c.8734A>G (p.Arg2912Gly) ATM:c.640+32092T>C ATM:c.695-18536T>C ATM:c.1986T>C (p.Phe662=) PMS2:c.1780A>C (p.Arg594=) PMS2:c.1618A>C (p.Arg540=) PMS2:c.1531A>C (p.Arg511=) PMS2:c.1375A>C (p.Arg459=) PMS2:c.1003A>C (p.Arg335=) PMS2:c.1363A>C (p.Arg455=) PMS2:c.1936A>C (p.Arg646=) PMS2:c.1627A>C (p.Arg543=) PMS2:c.1936A>C CHEK2:c.319+2T>A CHEK2:c.-459+2T>A ATM:c.2804C>T (p.Thr935Met) ATM:c.1727T>C (p.Ile576Thr) NF1:c.5793T>C (p.Ile1931=) NF1:c.5730T>C (p.Ile1910=) NF1:c.7291C>T (p.Arg2431Cys) NF1:c.7354C>T (p.Arg2452Cys) PMS2:c.1360G>C (p.Asp454His) PMS2:c.1609G>C (p.Asp537His) PMS2:c.1447G>C (p.Asp483His) PMS2:c.1204G>C (p.Asp402His) PMS2:c.832G>C (p.Asp278His) PMS2:c.1192G>C (p.Asp398His) PMS2:c.1765G>C (p.Asp589His) PMS2:c.1456G>C (p.Asp486His) FANCF:c.1087C>T (p.Gln363Ter) ATM:c.8432del (p.Lys2811fs) ATM:c.8432del ATM:c.641-36679del ATM:c.695-10458del MLH1:c.642T>C (p.Leu214=) MLH1:c.591T>C (p.Leu197=) MLH1:c.1665T>C (p.Leu555=) MLH1:c.1566T>C (p.Leu522=) NF1:c.960T>A (p.Ala320=) NF1:c.5162A>G (p.Asn1721Ser) NF1:c.5225A>G (p.Asn1742Ser) ATM:c.5229A>G (p.Thr1743=) ATM:c.3549T>C (p.Asn1183=) ATM:c.3703C>T (p.Pro1235Ser) CHEK2:c.1205_1206delCTinsTC CHEK2:c.1334_1335delinsTC (p.Ala445Val) CHEK2:c.542_543delinsTC (p.Ala181Val) CHEK2:c.1004_1005delinsTC (p.Ala335Val) CHEK2:c.1205_1206delinsTC (p.Ala402Val) CHEK2:c.1118_1119delinsTC (p.Ala373Val) ATM:c.1727T>A (p.Ile576Lys) | nucleaotide-sequencing | Identifying sequence variants contributing to hereditary breast and ovarian cancer inBRCA1 and BRCA2 negative breast and ovarian cancer patients. Scientific reports:2019 | |||||
CHEK2 gene MLH1 gene MEN1 gene | Breast Carcinoma multilocus inherited neoplasia alleles syndrome | 1023 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A ATM:c.3712_3716del (p.Leu1238fs) FLCN:c.346C>T FLCN:c.346C>T (p.Gln116Ter) APC:c.3007C>T (p.His1003Tyr) APC:c.2953C>T (p.His985Tyr) APC:c.2869C>T (p.His957Tyr) APC:c.2407C>T (p.His803Tyr) APC:c.2104C>T (p.His702Tyr) | Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? Journal of medical genetics:2019 | ||||||
CHEK2 gene | Malignant neoplasm of testis | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. Familial cancer:2021 | ||||||
CHEK2 gene | Lymphoma | 91 | p.Ile157Thr | TP53:c.404G>A (p.Arg135Gln) TP53:c.683G>A (p.Arg228Gln) TP53:c.323G>A (p.Arg108Gln) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | nucleaotide-sequencing | Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series. Familial cancer:2021 | ||||
CHEK2 gene | Carcinoma of bladder Malignant neoplasm of kidney stage t1 disease stage ta bladder cancer t1 disease t1 bladder cancer bladder or kidney cancer | 1016 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Survival of bladder or renal cancer in patients with CHEK2 mutations. PloS one:2021 | ||||
CHEK2 gene MUTYH gene BRCA2 gene ATM gene | Pancreatic Ductal Adenocarcinoma | heterozygous | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma. Cancers:2021 | |||||
CHEK2 gene RAD51C gene PALB2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary | 2270 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.7913_7917del (p.Ala2637_Phe2638insTer) | Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer. Cancers:2021 | ||||||
TP53 gene RAD51D gene RAD51C gene PTEN gene PALB2 gene CHEK2 gene CDH1 gene BRIP1 gene BRCA2 gene BRCA1 gene BARD1 gene ATM gene | Stomach Carcinoma Ductal Breast Carcinoma Breast Carcinoma lobular carcinoma | 2999 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2021 | |||||
CHEK2 gene RAD51C gene PALB2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary ovarian cancer g1 grade ovarian cancer low-grade ovarian carcinomas type i ovarian tumors | 167 | c.470T>C | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | missense mutation | Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor. Hereditary cancer in clinical practice:2022 | ||||
BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | c.1100delC p.Ile157Thr p.Arg95Ter p.Arg145Trp c.444+1G>A | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.-495C>T (n.-495C>T) CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) | microarray nucleaotide-sequencing | Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review. European journal of medical genetics:2022 | |||||
FOXL2 gene CHEK2 gene | Malignant neoplasm of ovary Thyroid carcinoma granulosa cell tumors | 93 | p.Cys134Trp p.Ile157Thr c.1100delC | FOXL2:c.402C>G (p.Cys134Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors. Cancers:2022 | |||||
TP53 gene STK11 gene SMAD4 gene PTEN gene PMS2 gene MUTYH gene MSH6 gene MSH2 gene MLH1 gene EPCAM gene CHEK2 gene CDH1 gene APC gene | Malignant neoplasm of appendix lynch syndrome | c.263287dup p.Ile157Thr c.470T>C p.Ile1307Lys c.3920T>A | TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C MSH2:c.668T>C (p.Leu223Pro) MSH2:c.668T>C MSH2:c.470T>C (p.Leu157Pro) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) CDH1:c.470T>C CDH1:c.470T>C (p.Val157Ala) CDH1:c.-1146T>C CDH1:c.-1350T>C | nucleaotide-sequencing | Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology:2022 | |||||
MUTYH gene APC gene CHEK2 gene | Colorectal Carcinoma | heterozygous | c.1100delC p.Ile1307Lys c.3920T>A p.Ile157Thr c.470T>C p.Thr367fs | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.3920T>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genetics in medicine : official journal of the American College of Medical Genetics:2022 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|
CHEK2 gene MUTYH gene BRCA1 gene | breast and colon cancers bilateral breast cancer cancer | p.Thr476Met c.1427C>T p.Pro295Leu c.884C>T | CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.803C>T (p.Pro268Leu) MUTYH:c.842C>T (p.Ala281Val) MUTYH:c.839C>T (p.Ala280Val) MUTYH:c.884C>T (p.Ala295Val) MUTYH:c.872C>T (p.Ala291Val) MUTYH:c.563C>T (p.Ala188Val) MUTYH:c.494C>T (p.Ala165Val) MUTYH:c.914C>T (p.Ala305Val) BRCA1:c.1430C>T (p.Ala477Val) BRCA1:c.1238C>T (p.Ala413Val) BRCA1:c.1235C>T (p.Ala412Val) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) BRCA1:c.1259C>T (p.Ser420Phe) BRCA1:c.1139C>T (p.Ser380Phe) BRCA1:c.1112C>T (p.Ser371Phe) BRCA1:c.4952C>T (p.Ser1651Phe) BRCA1:c.4811C>T (p.Ser1604Phe) BRCA1:c.1640C>T (p.Ser547Phe) BRCA1:c.5015C>T (p.Ser1672Phe) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) BRCA1:c.4739C>T (p.Ser1580Phe) BRCA1:c.4598C>T (p.Ser1533Phe) BRCA1:c.1427C>T (p.Ser476Phe) BRCA1:c.4802C>T (p.Ser1601Phe) BRCA1:c.1200delC (p.Pro401Leufs) BRCA1:c.1197delC (p.Pro400Leufs) BRCA1:c.1173delC (p.Pro392Leufs) BRCA1:c.1167delC (p.Pro390Leufs) BRCA1:c.1149delC (p.Pro384Leufs) | nucleaotide-sequencing | Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family. Cancer genetics:2022 | ||
TP53 gene MDM2 gene CHEK2 gene | liposarcoma Breast Carcinoma retroperitoneal dedifferentiated liposarcoma sarcoma | 61(year) | female | CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T | Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation. Virchows Archiv : an international journal of pathology:2014 |
Gene | Symptoms or Disease | Total Cases | Number of families | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 516 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.1022A>C CHEK2:c.1151A>C (p.Asn384Thr) CHEK2:c.359A>C (p.Asn120Thr) CHEK2:c.821A>C (p.Asn274Thr) CHEK2:c.1022A>C (p.Asn341Thr) CHEK2:c.1009-1101A>C | splice site mutation | Limited relevance of the CHEK2 gene in hereditary breast cancer. International journal of cancer:2004 | ||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 1303 | CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.1166G>T (p.Arg389Leu) CHEK2:c.374G>T (p.Arg125Leu) CHEK2:c.836G>T (p.Arg279Leu) CHEK2:c.1037G>T (p.Arg346Leu) CHEK2:c.1009-1086G>T CHEK2:c.1037G>T CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.405delA CHEK2:c.534del (p.Lys178fs) CHEK2:c.-373del CHEK2:c.405del (p.Lys135fs) CHEK2:c.1528C>T CHEK2:c.1657C>T (p.Gln553Ter) CHEK2:c.865C>T (p.Gln289Ter) CHEK2:c.1327C>T (p.Gln443Ter) CHEK2:c.1528C>T (p.Gln510Ter) CHEK2:c.1441C>T (p.Gln481Ter) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | premature stop | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast cancer research : BCR:2011 | |||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||
PALB2 gene ATM gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast/ovarian cancer lynch syndrome breast/ovarian breast or ovarian cancer ovarian | 2158 | APC:c.4387A>G (p.Thr1463Ala) APC:c.4363A>G (p.Thr1455Ala) APC:c.4258A>G (p.Thr1420Ala) APC:c.4249A>G (p.Thr1417Ala) APC:c.4210A>G (p.Thr1404Ala) APC:c.4156A>G (p.Thr1386Ala) APC:c.4060A>G (p.Thr1354Ala) APC:c.4030A>G (p.Thr1344Ala) APC:c.3955A>G (p.Thr1319Ala) APC:c.3853A>G (p.Thr1285Ala) APC:c.3484A>G (p.Thr1162Ala) APC:c.5194G>A (p.Asp1732Asn) APC:c.5170G>A (p.Asp1724Asn) APC:c.5065G>A (p.Asp1689Asn) APC:c.5056G>A (p.Asp1686Asn) APC:c.5017G>A (p.Asp1673Asn) APC:c.4963G>A (p.Asp1655Asn) APC:c.4867G>A (p.Asp1623Asn) APC:c.4837G>A (p.Asp1613Asn) APC:c.4762G>A (p.Asp1588Asn) APC:c.4660G>A (p.Asp1554Asn) APC:c.4291G>A (p.Asp1431Asn) ATM:c.6315G>C (p.Arg2105Ser) ATM:c.641-8418C>G ATM:c.*39-8418C>G CDK4:c.122A>G CDK4:c.122A>G (p.Asn41Ser) CDK4:c.625C>T CDK4:c.625C>T (p.Arg209Cys) MSH2:c.835C>G MSH2:c.835C>G (p.Leu279Val) MSH2:c.637C>G (p.Leu213Val) STK11:c.1225C>T (p.Arg409Trp) SMAD4:c.575C>T (p.Thr192Ile) PALB2:c.2289G>C (p.Leu763Phe) RAD51C:c.146-8A>G NBN:c.1124+6G>T NBN:c.878+6G>T RAD51D:c.904-3C>T RAD51D:c.568-3C>T RAD51D:c.964-3C>T STK11:c.465-18G>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CDH1:c.521dupA CDH1:c.521dup (p.Asn174fs) CDH1:c.-1095dup CDH1:c.-1299dup ATM:c.6997dup (p.Thr2333Asnfs) ATM:c.6997dup (p.Thr2333fs) ATM:c.641-18595dup ATM:c.*38+7554dup BRIP1:c.3149C>A (p.Thr1050Asn) ATM:c.133C>T (p.Arg45Trp) ATM:c.2149C>T (p.Arg717Trp) APC:c.6872G>T (p.Gly2291Val) APC:c.6848G>T (p.Gly2283Val) APC:c.6743G>T (p.Gly2248Val) APC:c.6734G>T (p.Gly2245Val) APC:c.6695G>T (p.Gly2232Val) APC:c.6641G>T (p.Gly2214Val) APC:c.6545G>T (p.Gly2182Val) APC:c.6515G>T (p.Gly2172Val) APC:c.6440G>T (p.Gly2147Val) APC:c.6338G>T (p.Gly2113Val) APC:c.5969G>T (p.Gly1990Val) ATM:c.749G>A (p.Arg250Gln) ATM:c.1703G>T (p.Arg568Ile) CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.1141A>G CHEK2:c.1270A>G (p.Met424Val) CHEK2:c.478A>G (p.Met160Val) CHEK2:c.940A>G (p.Met314Val) CHEK2:c.1141A>G (p.Met381Val) CHEK2:c.1054A>G (p.Met352Val) APC:c.4126G>A (p.Ala1376Thr) APC:c.4102G>A (p.Ala1368Thr) APC:c.3997G>A (p.Ala1333Thr) APC:c.3988G>A (p.Ala1330Thr) APC:c.3949G>A (p.Ala1317Thr) APC:c.3895G>A (p.Ala1299Thr) APC:c.3799G>A (p.Ala1267Thr) APC:c.3769G>A (p.Ala1257Thr) APC:c.3694G>A (p.Ala1232Thr) APC:c.3592G>A (p.Ala1198Thr) APC:c.3223G>A (p.Ala1075Thr) CDKN2A:c.-2G>A CDKN2A:c.-3-3621G>A CDKN2A:c.194-3621G>A CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G ATM:c.5712dup (p.Ser1905fs) ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T MUTYH:c.1333G>A (p.Ala445Thr) MUTYH:c.1417G>A (p.Ala473Thr) MUTYH:c.1378G>A (p.Ala460Thr) MUTYH:c.1366G>A (p.Ala456Thr) MUTYH:c.1057G>A (p.Ala353Thr) MUTYH:c.988G>A (p.Ala330Thr) MUTYH:c.1408G>A (p.Ala470Thr) PMS2:c.1663A>C (p.Lys555Gln) PMS2:c.1912A>C (p.Lys638Gln) PMS2:c.1750A>C (p.Lys584Gln) PMS2:c.1507A>C (p.Lys503Gln) PMS2:c.1135A>C (p.Lys379Gln) PMS2:c.1495A>C (p.Lys499Gln) PMS2:c.2068A>C (p.Lys690Gln) PMS2:c.1759A>C (p.Lys587Gln) ATM:c.2354G>A (p.Arg785His) CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C TP53:c.683G>C (p.Gly228Ala) TP53:c.*186G>C TP53:c.*98G>C TP53:c.962G>C (p.Gly321Ala) TP53:c.602G>C (p.Gly201Ala) APC:c.2530T>G (p.Leu844Val) APC:c.2506T>G (p.Leu836Val) APC:c.2401T>G (p.Leu801Val) APC:c.2392T>G (p.Leu798Val) APC:c.2353T>G (p.Leu785Val) APC:c.2299T>G (p.Leu767Val) APC:c.2203T>G (p.Leu735Val) APC:c.2173T>G (p.Leu725Val) APC:c.2098T>G (p.Leu700Val) APC:c.1996T>G (p.Leu666Val) APC:c.1627T>G (p.Leu543Val) ATM:c.361T>A (p.Leu121Ile) PMS2:c.964G>A (p.Val322Ile) PMS2:c.646G>A (p.Val216Ile) PMS2:c.559G>A (p.Val187Ile) PMS2:c.31G>A (p.Val11Ile) PMS2:c.391G>A (p.Val131Ile) PMS2:c.655G>A (p.Val219Ile) PMS2:c.964G>A RAD51D:c.620C>T (p.Ser207Leu) RAD51D:c.680C>T (p.Ser227Leu) RAD51D:c.284C>T (p.Ser95Leu) ATM:c.5645G>A (p.Arg1882Gln) BARD1:c.2252G>A BARD1:c.2252G>A (p.Arg751Gln) BARD1:c.2195G>A (p.Arg732Gln) BARD1:c.899G>A (p.Arg300Gln) BARD1:c.842G>A (p.Arg281Gln) BARD1:c.713G>A (p.Arg238Gln) ATM:c.2414G>A (p.Arg805Gln) ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A BARD1:c.346C>T BARD1:c.346C>T (p.His116Tyr) BARD1:c.289C>T (p.His97Tyr) BARD1:c.158+17097C>T BARD1:c.215+4746C>T BARD1:c.568G>A BARD1:c.568G>A (p.Asp190Asn) BARD1:c.511G>A (p.Asp171Asn) BARD1:c.158+28106G>A BARD1:c.215+15755G>A BARD1:c.364+10991G>A CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T ATM:c.3154-4G>A CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) TP53:c.146G>A (p.Arg49His) TP53:c.425G>A (p.Arg142His) TP53:c.65G>A (p.Arg22His) PTEN:c.210-12_210-8delCTTTT PTEN:c.730-7_730-3del PTEN:c.210-7_210-3del PTEN:c.-541-7_-541-3del PALB2:c.2257C>T (p.Arg753Ter) PMS2:c.1951C>A (p.Leu651Met) PMS2:c.2200C>A (p.Leu734Met) PMS2:c.2038C>A (p.Leu680Met) PMS2:c.1984C>A (p.Leu662Met) PMS2:c.1795C>A (p.Leu599Met) PMS2:c.1423C>A (p.Leu475Met) PMS2:c.1783C>A (p.Leu595Met) PMS2:c.2389C>A (p.Leu797Met) PMS2:c.2047C>A (p.Leu683Met) PMS2:c.2356C>A CHEK2:c.1489G>A CHEK2:c.1618G>A (p.Asp540Asn) CHEK2:c.826G>A (p.Asp276Asn) CHEK2:c.1288G>A (p.Asp430Asn) CHEK2:c.1489G>A (p.Asp497Asn) CHEK2:c.1402G>A (p.Asp468Asn) APC:c.6733G>T (p.Gly2245Cys) APC:c.6709G>T (p.Gly2237Cys) APC:c.6604G>T (p.Gly2202Cys) APC:c.6595G>T (p.Gly2199Cys) APC:c.6556G>T (p.Gly2186Cys) APC:c.6502G>T (p.Gly2168Cys) APC:c.6406G>T (p.Gly2136Cys) APC:c.6376G>T (p.Gly2126Cys) APC:c.6301G>T (p.Gly2101Cys) APC:c.6199G>T (p.Gly2067Cys) APC:c.5830G>T (p.Gly1944Cys) MSH6:c.2827G>T (p.Asp943Tyr) MSH6:c.2437G>T (p.Asp813Tyr) MSH6:c.1921G>T (p.Asp641Tyr) MSH6:c.2027A>G (p.Lys676Arg) MSH6:c.1637A>G (p.Lys546Arg) MSH6:c.1121A>G (p.Lys374Arg) PALB2:c.3296C>G (p.Thr1099Arg) NBN:c.1520A>G (p.His507Arg) NBN:c.1274A>G (p.His425Arg) ATM:c.670A>G (p.Lys224Glu) CDH1:c.394G>A CDH1:c.394G>A (p.Val132Ile) CDH1:c.-1222G>A CDH1:c.-1426G>A PMS2:c.472A>G (p.Asn158Asp) PMS2:c.877A>G (p.Asn293Asp) PMS2:c.559A>G (p.Asn187Asp) PMS2:c.-57A>G PMS2:c.304A>G (p.Asn102Asp) PMS2:c.568A>G (p.Asn190Asp) BMPR1A:c.760C>T (p.Arg254Cys) PMS2:c.2154C>G (p.Ile718Met) PMS2:c.2403C>G (p.Ile801Met) PMS2:c.2241C>G (p.Ile747Met) PMS2:c.2187C>G (p.Ile729Met) PMS2:c.1998C>G (p.Ile666Met) PMS2:c.1626C>G (p.Ile542Met) PMS2:c.1986C>G (p.Ile662Met) PMS2:c.2592C>G (p.Ile864Met) PMS2:c.2250C>G (p.Ile750Met) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A RAD51C:c.431T>C RAD51C:c.431T>C (p.Ile144Thr) PMS2:c.936G>A (p.Met312Ile) PMS2:c.618G>A (p.Met206Ile) PMS2:c.531G>A (p.Met177Ile) PMS2:c.3G>A (p.Met1Ile) PMS2:c.363G>A (p.Met121Ile) PMS2:c.627G>A (p.Met209Ile) PMS2:c.936G>A MSH6:c.2555AGA[2] (p.Lys854del) MSH6:c.2165AGA[2] (p.Lys724del) MSH6:c.1649AGA[2] (p.Lys552del) BRIP1:c.550G>T (p.Asp184Tyr) MSH6:c.161G>C (p.Gly54Ala) MSH6:c.-576G>C MSH2:c.126C>G MSH2:c.126C>G (p.Phe42Leu) MSH2:c.-30-43C>G MSH2:c.1813G>A (p.Val605Ile) MSH2:c.1813G>A MSH2:c.1615G>A (p.Val539Ile) MSH6:c.831A>C (p.Glu277Asp) MSH6:c.441A>C (p.Glu147Asp) MSH6:c.-76A>C MSH6:c.1844G>C (p.Cys615Ser) MSH6:c.1454G>C (p.Cys485Ser) MSH6:c.938G>C (p.Cys313Ser) CDKN2A:c.365G>T CDKN2A:c.365G>T (p.Gly122Val) CDKN2A:c.212G>T (p.Gly71Val) CDKN2A:c.*9G>T CDKN2A:c.*288G>T ATM:c.283C>A (p.Gln95Lys) ATM:c.6025T>C (p.Tyr2009His) ATM:c.641-6770A>G ATM:c.*39-6770A>G ATM:c.6348-8T>C ATM:c.641-10875A>G ATM:c.*39-10875A>G ATM:c.7552C>T (p.Pro2518Ser) ATM:c.641-22409G>A ATM:c.*38+3740G>A ATM:c.*1357G>A BRCA2:c.517G>C (p.Gly173Arg) PALB2:c.1492G>T (p.Asp498Tyr) BRIP1:c.3196del (p.Ser1066fs) TP53:c.*257A>G TP53:c.*169A>G TP53:c.1033A>G (p.Met345Val) TP53:c.673A>G (p.Met225Val) TP53:c.1150A>G STK11:c.1148G>A (p.Arg383His) CHEK2:c.1513T>A CHEK2:c.1642T>A (p.Ser548Thr) CHEK2:c.850T>A (p.Ser284Thr) CHEK2:c.1312T>A (p.Ser438Thr) CHEK2:c.1513T>A (p.Ser505Thr) CHEK2:c.1426T>A (p.Ser476Thr) MUTYH:c.1392+2C>T MUTYH:c.1437+2C>T MUTYH:c.1467+2C>T MUTYH:c.1476+2C>T MUTYH:c.1116+2C>T MUTYH:c.1395+2C>T MUTYH:c.1425+2C>T MUTYH:c.1434+2C>T MUTYH:c.206G>A (p.Arg69Gln) MUTYH:c.290G>A (p.Arg97Gln) MUTYH:c.251G>A (p.Arg84Gln) MUTYH:c.239G>A (p.Arg80Gln) MUTYH:c.-71G>A MUTYH:c.-66G>A MUTYH:c.281G>A (p.Arg94Gln) BARD1:c.632T>C BARD1:c.632T>C (p.Leu211Ser) BARD1:c.575T>C (p.Leu192Ser) BARD1:c.158+28170T>C BARD1:c.215+15819T>C BARD1:c.364+11055T>C BARD1:c.298C>T BARD1:c.298C>T (p.Gln100Ter) BARD1:c.241C>T (p.Gln81Ter) BARD1:c.158+17049C>T BARD1:c.215+4698C>T MSH2:c.2354A>C (p.His785Pro) MSH2:c.2354A>C MSH2:c.2156A>C (p.His719Pro) APC:c.2537C>T (p.Thr846Ile) APC:c.2513C>T (p.Thr838Ile) APC:c.2408C>T (p.Thr803Ile) APC:c.2399C>T (p.Thr800Ile) APC:c.2360C>T (p.Thr787Ile) APC:c.2306C>T (p.Thr769Ile) APC:c.2210C>T (p.Thr737Ile) APC:c.2180C>T (p.Thr727Ile) APC:c.2105C>T (p.Thr702Ile) APC:c.2003C>T (p.Thr668Ile) APC:c.1634C>T (p.Thr545Ile) APC:c.7456T>C (p.Ser2486Pro) APC:c.7432T>C (p.Ser2478Pro) APC:c.7327T>C (p.Ser2443Pro) APC:c.7318T>C (p.Ser2440Pro) APC:c.7279T>C (p.Ser2427Pro) APC:c.7225T>C (p.Ser2409Pro) APC:c.7129T>C (p.Ser2377Pro) APC:c.7099T>C (p.Ser2367Pro) APC:c.7024T>C (p.Ser2342Pro) APC:c.6922T>C (p.Ser2308Pro) APC:c.6553T>C (p.Ser2185Pro) PMS2:c.1312A>T (p.Thr438Ser) PMS2:c.1561A>T (p.Thr521Ser) PMS2:c.1399A>T (p.Thr467Ser) PMS2:c.1156A>T (p.Thr386Ser) PMS2:c.784A>T (p.Thr262Ser) PMS2:c.1144A>T (p.Thr382Ser) PMS2:c.1717A>T (p.Thr573Ser) PMS2:c.1408A>T (p.Thr470Ser) PMS2:c.1559C>T (p.Ala520Val) PMS2:c.1397C>T (p.Ala466Val) PMS2:c.1310C>T (p.Ala437Val) PMS2:c.1154C>T (p.Ala385Val) PMS2:c.782C>T (p.Ala261Val) PMS2:c.1142C>T (p.Ala381Val) PMS2:c.1715C>T (p.Ala572Val) PMS2:c.1406C>T (p.Ala469Val) PMS2:c.1715C>T PMS2:c.621A>C (p.Gln207His) PMS2:c.708A>C (p.Gln236His) PMS2:c.93A>C (p.Gln31His) PMS2:c.453A>C (p.Gln151His) PMS2:c.1026A>C (p.Gln342His) PMS2:c.717A>C (p.Gln239His) PMS2:c.583+2055A>C PMS2:c.988+2055A>C ATM:c.131A>G (p.Asp44Gly) ATM:c.1271C>A (p.Pro424His) ATM:c.2615C>T (p.Pro872Leu) MLH1:c.437G>A (p.Arg146Gln) MLH1:c.386G>A (p.Arg129Gln) MLH1:c.1460G>A (p.Arg487Gln) MLH1:c.1361G>A (p.Arg454Gln) ATM:c.4210A>G (p.Ile1404Val) ATM:c.4445G>A (p.Cys1482Tyr) ATM:c.6537T>G (p.Ile2179Met) ATM:c.641-12314A>C ATM:c.*39-12314A>C BRCA2:c.620C>T (p.Thr207Ile) BRCA2:c.8118T>C (p.Asn2706=) BRCA2:c.9209C>T (p.Ser3070Phe) CDH1:c.1171G>A CDH1:c.-445G>A CDH1:c.-649G>A CDH1:c.1171G>A (p.Val391Ile) CDH1:c.1137+1083G>A STK11:c.116G>T (p.Arg39Leu) CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.551A>C (p.Lys184Thr) CHEK2:c.-356A>C CHEK2:c.422A>C (p.Lys141Thr) CHEK2:c.422A>C BMPR1A:c.499A>G (p.Met167Val) CDH1:c.1793G>A CDH1:c.1610G>A (p.Arg537Gln) CDH1:c.245G>A (p.Arg82Gln) CDH1:c.-173G>A CDH1:c.1793G>A (p.Arg598Gln) MSH2:c.2533A>G (p.Lys845Glu) MSH2:c.2533A>G MSH2:c.2335A>G (p.Lys779Glu) BRCA2:c.9573G>A (p.Trp3191Ter) APC:c.1660G>A (p.Glu554Lys) APC:c.1636G>A (p.Glu546Lys) APC:c.1531G>A (p.Glu511Lys) APC:c.1522G>A (p.Glu508Lys) APC:c.1483G>A (p.Glu495Lys) APC:c.1429G>A (p.Glu477Lys) APC:c.1333G>A (p.Glu445Lys) APC:c.1303G>A (p.Glu435Lys) APC:c.1228G>A (p.Glu410Lys) APC:c.1126G>A (p.Glu376Lys) APC:c.757G>A (p.Glu253Lys) BMPR1A:c.1235T>C (p.Val412Ala) PALB2:c.3473A>G (p.His1158Arg) CHEK2:c.846+4_846+7delAGTA CHEK2:c.846+4_846+7del CHEK2:c.645+4_645+7del CHEK2:c.183+4_183+7del CHEK2:c.975+4_975+7del CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T MSH2:c.842C>G (p.Ser281Ter) MSH2:c.644C>G (p.Ser215Ter) MSH2:c.842C>G ATM:c.7291A>G (p.Lys2431Glu) ATM:c.641-20151T>C ATM:c.*38+5998T>C ATM:c.8393C>A (p.Ala2798Asp) ATM:c.641-34275G>T ATM:c.695-8054G>T MUTYH:c.391C>A (p.Leu131Met) MUTYH:c.475C>A (p.Leu159Met) MUTYH:c.436C>A (p.Leu146Met) MUTYH:c.424C>A (p.Leu142Met) MUTYH:c.115C>A (p.Leu39Met) MUTYH:c.46C>A (p.Leu16Met) MUTYH:c.466C>A (p.Leu156Met) BARD1:c.556A>G BARD1:c.556A>G (p.Ser186Gly) BARD1:c.499A>G (p.Ser167Gly) BARD1:c.158+28094A>G BARD1:c.215+15743A>G BARD1:c.364+10979A>G MLH1:c.-143T>G MLH1:c.287T>G (p.Val96Gly) MLH1:c.-236T>G MLH1:c.-349T>G NBN:c.2070+4G>A NBN:c.1824+4G>A ATM:c.175G>T (p.Ala59Ser) ATM:c.8915A>G (p.Gln2972Arg) ATM:c.640+20774T>C ATM:c.694+20774T>C BRCA2:c.3900G>A (p.Met1300Ile) PALB2:c.1847A>G (p.Asp616Gly) PALB2:c.658del (p.Ser220fs) BRCA1:c.122A>T (p.His41Leu) CHEK2:c.1259G>A CHEK2:c.1388G>A (p.Cys463Tyr) CHEK2:c.596G>A (p.Cys199Tyr) CHEK2:c.1058G>A (p.Cys353Tyr) CHEK2:c.1259G>A (p.Cys420Tyr) CHEK2:c.1172G>A (p.Cys391Tyr) MSH2:c.755A>G (p.Gln252Arg) MSH2:c.557A>G (p.Gln186Arg) MSH2:c.755A>G APC:c.5017A>G (p.Thr1673Ala) APC:c.4993A>G (p.Thr1665Ala) APC:c.4888A>G (p.Thr1630Ala) APC:c.4879A>G (p.Thr1627Ala) APC:c.4840A>G (p.Thr1614Ala) APC:c.4786A>G (p.Thr1596Ala) APC:c.4690A>G (p.Thr1564Ala) APC:c.4660A>G (p.Thr1554Ala) APC:c.4585A>G (p.Thr1529Ala) APC:c.4483A>G (p.Thr1495Ala) APC:c.4114A>G (p.Thr1372Ala) APC:c.5233T>C (p.Cys1745Arg) APC:c.5209T>C (p.Cys1737Arg) APC:c.5104T>C (p.Cys1702Arg) APC:c.5095T>C (p.Cys1699Arg) APC:c.5056T>C (p.Cys1686Arg) APC:c.5002T>C (p.Cys1668Arg) APC:c.4906T>C (p.Cys1636Arg) APC:c.4876T>C (p.Cys1626Arg) APC:c.4801T>C (p.Cys1601Arg) APC:c.4699T>C (p.Cys1567Arg) APC:c.4330T>C (p.Cys1444Arg) APC:c.5336A>C (p.Asn1779Thr) APC:c.5312A>C (p.Asn1771Thr) APC:c.5207A>C (p.Asn1736Thr) APC:c.5198A>C (p.Asn1733Thr) APC:c.5159A>C (p.Asn1720Thr) APC:c.5105A>C (p.Asn1702Thr) APC:c.5009A>C (p.Asn1670Thr) APC:c.4979A>C (p.Asn1660Thr) APC:c.4904A>C (p.Asn1635Thr) APC:c.4802A>C (p.Asn1601Thr) APC:c.4433A>C (p.Asn1478Thr) ATM:c.4091A>G (p.Asp1364Gly) PALB2:c.1468C>G (p.Pro490Ala) BRCA2:c.486del (p.Ser163fs) BRCA2:c.6320del (p.Pro2107fs) BRCA2:c.8331+2T>C PALB2:c.23C>T (p.Pro8Leu) PALB2:c.2514+3A>G ATM:c.2275A>G (p.Ser759Gly) BRCA1:c.696_697delAA (p.Ser233Argfs) BRCA1:c.693_694delAA (p.Ser232Argfs) BRCA1:c.684_685delAA (p.Ser229Argfs) BRCA1:c.678_679delAA (p.Ser227Argfs) BRCA2:c.489_490insG (p.Leu164fs) ATM:c.6974C>T (p.Ala2325Val) ATM:c.641-17153G>A ATM:c.*38+8996G>A ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T MSH6:c.2780T>C (p.Ile927Thr) MSH6:c.2390T>C (p.Ile797Thr) MSH6:c.1874T>C (p.Ile625Thr) MSH6:c.3788G>A (p.Arg1263His) MSH6:c.3398G>A (p.Arg1133His) MSH6:c.2882G>A (p.Arg961His) MSH2:c.1963G>A MSH2:c.1963G>A (p.Val655Ile) MSH2:c.1765G>A (p.Val589Ile) STK11:c.1211C>T (p.Ser404Phe) MUTYH:c.1393-17C>G MUTYH:c.1438-17C>G MUTYH:c.1468-17C>G MUTYH:c.1477-17C>G MUTYH:c.1117-17C>G MUTYH:c.1396-17C>G MUTYH:c.1426-17C>G RAD51D:c.146C>T (p.Ala49Val) RAD51D:c.144+493C>T RAD51D:c.26G>C (p.Cys9Ser) RAD51D:c.413A>G (p.Asn138Ser) RAD51D:c.473A>G (p.Asn158Ser) RAD51D:c.145-574A>G RAD51D:c.628G>A (p.Ala210Thr) RAD51D:c.568G>A (p.Ala190Thr) RAD51D:c.232G>A (p.Ala78Thr) RAD51D:c.973G>A (p.Gly325Ser) RAD51D:c.1033G>A (p.Gly345Ser) RAD51D:c.637G>A (p.Gly213Ser) BMPR1A:c.953A>G (p.Tyr318Cys) BMPR1A:c.231-9C>T CHEK2:c.1556G>A CHEK2:c.1685G>A (p.Arg562Gln) CHEK2:c.893G>A (p.Arg298Gln) CHEK2:c.1355G>A (p.Arg452Gln) CHEK2:c.1556G>A (p.Arg519Gln) CHEK2:c.1469G>A (p.Arg490Gln) MSH6:c.3824G>A (p.Cys1275Tyr) MSH6:c.3434G>A (p.Cys1145Tyr) MSH6:c.2918G>A (p.Cys973Tyr) MSH2:c.386C>T (p.Ser129Phe) MSH2:c.386C>T MSH2:c.188C>T (p.Ser63Phe) MSH2:c.403C>T MSH2:c.403C>T (p.Leu135Phe) MSH2:c.205C>T (p.Leu69Phe) RAD51D:c.919G>A (p.Glu307Lys) RAD51D:c.979G>A (p.Glu327Lys) RAD51D:c.583G>A (p.Glu195Lys) CDKN2A:c.315C>A CDKN2A:c.315C>A (p.Asp105Glu) CDKN2A:c.162C>A (p.Asp54Glu) CDKN2A:c.358C>A (p.Arg120Ser) CDKN2A:c.*238C>A BMPR1A:c.98C>G (p.Thr33Ser) MUTYH:c.914-9C>T MUTYH:c.947-9C>T MUTYH:c.569-9C>T MUTYH:c.638-9C>T MUTYH:c.959-9C>T MUTYH:c.989-9C>T MUTYH:c.998-9C>T PALB2:c.1424dup (p.Arg476fs) PALB2:c.1492G>A (p.Asp498Asn) MSH6:c.95G>A (p.Gly32Asp) MSH6:c.-642G>A APC:c.8327A>G (p.Glu2776Gly) APC:c.8303A>G (p.Glu2768Gly) APC:c.8198A>G (p.Glu2733Gly) APC:c.8189A>G (p.Glu2730Gly) APC:c.8150A>G (p.Glu2717Gly) APC:c.8096A>G (p.Glu2699Gly) APC:c.8000A>G (p.Glu2667Gly) APC:c.7970A>G (p.Glu2657Gly) APC:c.7895A>G (p.Glu2632Gly) APC:c.7793A>G (p.Glu2598Gly) APC:c.7424A>G (p.Glu2475Gly) MSH6:c.2511C>G (p.His837Gln) MSH6:c.2121C>G (p.His707Gln) MSH6:c.1605C>G (p.His535Gln) NBN:c.1777C>G (p.Pro593Ala) NBN:c.1531C>G (p.Pro511Ala) BRIP1:c.1741C>T (p.Arg581Ter) ATM:c.2449G>C (p.Asp817His) ATM:c.4658A>C (p.Glu1553Ala) APC:c.5991CAA[1] (p.Asn1999del) APC:c.5967CAA[1] (p.Asn1991del) APC:c.5862CAA[1] (p.Asn1956del) APC:c.5853CAA[1] (p.Asn1953del) APC:c.5814CAA[1] (p.Asn1940del) APC:c.5760CAA[1] (p.Asn1922del) APC:c.5664CAA[1] (p.Asn1890del) APC:c.5634CAA[1] (p.Asn1880del) APC:c.5559CAA[1] (p.Asn1855del) APC:c.5457CAA[1] (p.Asn1821del) APC:c.5088CAA[1] (p.Asn1698del) APC:c.3743A>G (p.Gln1248Arg) APC:c.3719A>G (p.Gln1240Arg) APC:c.3614A>G (p.Gln1205Arg) APC:c.3605A>G (p.Gln1202Arg) APC:c.3566A>G (p.Gln1189Arg) APC:c.3512A>G (p.Gln1171Arg) APC:c.3416A>G (p.Gln1139Arg) APC:c.3386A>G (p.Gln1129Arg) APC:c.3311A>G (p.Gln1104Arg) APC:c.3209A>G (p.Gln1070Arg) APC:c.2840A>G (p.Gln947Arg) BRCA2:c.7828G>A (p.Val2610Met) BMPR1A:c.676-6A>C BARD1:c.1738G>A BARD1:c.1738G>A (p.Glu580Lys) BARD1:c.365-15286G>A BARD1:c.1681G>A (p.Glu561Lys) BARD1:c.385G>A (p.Glu129Lys) BARD1:c.328G>A (p.Glu110Lys) BRIP1:c.3178G>A (p.Val1060Ile) BRIP1:c.477_481del (p.Lys159fs) MUTYH:c.1450G>A (p.Ala484Thr) MUTYH:c.1411G>A (p.Ala471Thr) MUTYH:c.1399G>A (p.Ala467Thr) MUTYH:c.1090G>A (p.Ala364Thr) MUTYH:c.1021G>A (p.Ala341Thr) MUTYH:c.1441G>A (p.Ala481Thr) APC:c.5440A>G (p.Lys1814Glu) APC:c.5416A>G (p.Lys1806Glu) APC:c.5311A>G (p.Lys1771Glu) APC:c.5302A>G (p.Lys1768Glu) APC:c.5263A>G (p.Lys1755Glu) APC:c.5209A>G (p.Lys1737Glu) APC:c.5113A>G (p.Lys1705Glu) APC:c.5083A>G (p.Lys1695Glu) APC:c.5008A>G (p.Lys1670Glu) APC:c.4906A>G (p.Lys1636Glu) APC:c.4537A>G (p.Lys1513Glu) APC:c.7214A>G (p.Asn2405Ser) APC:c.7190A>G (p.Asn2397Ser) APC:c.7085A>G (p.Asn2362Ser) APC:c.7076A>G (p.Asn2359Ser) APC:c.7037A>G (p.Asn2346Ser) APC:c.6983A>G (p.Asn2328Ser) APC:c.6887A>G (p.Asn2296Ser) APC:c.6857A>G (p.Asn2286Ser) APC:c.6782A>G (p.Asn2261Ser) APC:c.6680A>G (p.Asn2227Ser) APC:c.6311A>G (p.Asn2104Ser) RAD51D:c.695G>A (p.Arg232Gln) RAD51D:c.755G>A (p.Arg252Gln) RAD51D:c.359G>A (p.Arg120Gln) RAD51D:c.755G>A PALB2:c.3290C>G (p.Pro1097Arg) CDH1:c.160A>G CDH1:c.160A>G (p.Arg54Gly) CDH1:c.-1456A>G CDH1:c.-1660A>G MSH2:c.1347G>C MSH2:c.1347G>C (p.Lys449Asn) MSH2:c.1149G>C (p.Lys383Asn) MUTYH:c.836G>A (p.Arg279Gln) MUTYH:c.920G>A (p.Arg307Gln) MUTYH:c.881G>A (p.Arg294Gln) MUTYH:c.869G>A (p.Arg290Gln) MUTYH:c.560G>A (p.Arg187Gln) MUTYH:c.491G>A (p.Arg164Gln) MUTYH:c.911G>A (p.Arg304Gln) BRCA2:c.971G>A (p.Arg324Lys) RAD51D:c.481-7G>A RAD51D:c.145-7G>A RAD51D:c.541-7G>A RAD51C:c.*8071C>T RAD51C:c.640C>T RAD51C:c.640C>T (p.Arg214Cys) RAD51C:c.*68C>T ATM:c.5893_5897delAAAAG (p.Lys1965Tyrfs) ATM:c.5893_5897del (p.Lys1965fs) ATM:c.641-1220_641-1216del ATM:c.*39-1220_*39-1216del BRCA1:c.635A>C (p.Lys212Thr) BRCA1:c.872A>C (p.Lys291Thr) BRCA1:c.512A>C (p.Lys171Thr) BRCA1:c.128A>C (p.Lys43Thr) BRCA1:c.1016A>C (p.Lys339Thr) BRCA1:c.875A>C (p.Lys292Thr) BRCA1:c.787+229A>C MSH6:c.2226C>G (p.Asn742Lys) MSH6:c.1836C>G (p.Asn612Lys) MSH6:c.1320C>G (p.Asn440Lys) APC:c.8443A>G (p.Ser2815Gly) APC:c.8419A>G (p.Ser2807Gly) APC:c.8314A>G (p.Ser2772Gly) APC:c.8305A>G (p.Ser2769Gly) APC:c.8266A>G (p.Ser2756Gly) APC:c.8212A>G (p.Ser2738Gly) APC:c.8116A>G (p.Ser2706Gly) APC:c.8086A>G (p.Ser2696Gly) APC:c.8011A>G (p.Ser2671Gly) APC:c.7909A>G (p.Ser2637Gly) APC:c.7540A>G (p.Ser2514Gly) ATM:c.5858C>T (p.Thr1953Ile) ATM:c.641-1184G>A ATM:c.*39-1184G>A CDH1:c.325A>C CDH1:c.325A>C (p.Lys109Gln) CDH1:c.-1291A>C CDH1:c.-1495A>C CDH1:c.2398C>T CDH1:c.2215C>T (p.Arg739Cys) CDH1:c.850C>T (p.Arg284Cys) CDH1:c.433C>T (p.Arg145Cys) CDH1:c.2398C>T (p.Arg800Cys) BRCA1:c.3268A>C (p.Lys1090Gln) BRCA1:c.3271A>C (p.Lys1091Gln) BRCA1:c.3412A>C (p.Lys1138Gln) BRCA1:c.3409A>C (p.Lys1137Gln) BRCA1:c.3394A>C (p.Lys1132Gln) BRCA1:c.3391A>C (p.Lys1131Gln) BRIP1:c.2863A>C (p.Asn955His) PMS2:c.-51G>T PMS2:c.355G>T (p.Asp119Tyr) PMS2:c.37G>T (p.Asp13Tyr) PMS2:c.-530G>T PMS2:c.46G>T (p.Asp16Tyr) APC:c.1871T>C (p.Ile624Thr) APC:c.1847T>C (p.Ile616Thr) APC:c.1742T>C (p.Ile581Thr) APC:c.1733T>C (p.Ile578Thr) APC:c.1694T>C (p.Ile565Thr) APC:c.1640T>C (p.Ile547Thr) APC:c.1544T>C (p.Ile515Thr) APC:c.1514T>C (p.Ile505Thr) APC:c.1439T>C (p.Ile480Thr) APC:c.1337T>C (p.Ile446Thr) APC:c.968T>C (p.Ile323Thr) MSH6:c.3832C>A (p.Pro1278Thr) MSH6:c.3442C>A (p.Pro1148Thr) MSH6:c.2926C>A (p.Pro976Thr) ATM:c.95G>T (p.Arg32Leu) CHEK2:c.707T>C CHEK2:c.836T>C (p.Leu279Pro) CHEK2:c.44T>C (p.Leu15Pro) CHEK2:c.506T>C (p.Leu169Pro) CHEK2:c.707T>C (p.Leu236Pro) MSH6:c.2147C>T (p.Thr716Ile) MSH6:c.1757C>T (p.Thr586Ile) MSH6:c.1241C>T (p.Thr414Ile) BRCA2:c.2488A>G (p.Asn830Asp) PMS2:c.2071G>A (p.Glu691Lys) PMS2:c.2320G>A (p.Glu774Lys) PMS2:c.2158G>A (p.Glu720Lys) PMS2:c.2104G>A (p.Glu702Lys) PMS2:c.1915G>A (p.Glu639Lys) PMS2:c.1543G>A (p.Glu515Lys) PMS2:c.1903G>A (p.Glu635Lys) PMS2:c.2509G>A (p.Glu837Lys) PMS2:c.2167G>A (p.Glu723Lys) PALB2:c.1756G>A (p.Asp586Asn) ATM:c.3772C>A (p.His1258Asn) MSH6:c.2161A>G (p.Arg721Gly) MSH6:c.1771A>G (p.Arg591Gly) MSH6:c.1255A>G (p.Arg419Gly) MSH6:c.491A>C (p.His164Pro) MSH6:c.-412A>C MSH6:c.-279-2684A>C MSH6:c.238-2684A>C ATM:c.439A>G (p.Lys147Glu) BRIP1:c.326A>G (p.Asn109Ser) PALB2:c.3053A>C (p.Glu1018Ala) MUTYH:c.17C>A (p.Ser6Tyr) MUTYH:c.-238C>A MUTYH:c.-297C>A MUTYH:c.-233C>A MUTYH:c.-42C>A MUTYH:c.-22C>A MUTYH:c.-15G>T PALB2:c.995T>A (p.Leu332His) BRCA2:c.9409A>T (p.Thr3137Ser) APC:c.2749G>C (p.Gly917Arg) APC:c.2644G>C (p.Gly882Arg) APC:c.2635G>C (p.Gly879Arg) APC:c.2596G>C (p.Gly866Arg) APC:c.2542G>C (p.Gly848Arg) APC:c.2446G>C (p.Gly816Arg) APC:c.2416G>C (p.Gly806Arg) APC:c.2341G>C (p.Gly781Arg) APC:c.2239G>C (p.Gly747Arg) APC:c.1870G>C (p.Gly624Arg) APC:c.2719G>C PALB2:c.1646A>G (p.His549Arg) CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C BRCA2:c.8699A>G BRCA2:c.8699A>G (p.Asp2900Gly) BRCA2:c.9650T>A BRCA2:c.9650T>A (p.Met3217Lys) PALB2:c.2093T>C PALB2:c.2093T>C (p.Leu698Pro) MSH6:c.1054G>A (p.Val352Ile) MSH6:c.664G>A (p.Val222Ile) MSH6:c.148G>A (p.Val50Ile) MUTYH:c.848G>A (p.Arg283Lys) MUTYH:c.932G>A (p.Arg311Lys) MUTYH:c.893G>A (p.Arg298Lys) MUTYH:c.881G>A (p.Arg294Lys) MUTYH:c.572G>A (p.Arg191Lys) MUTYH:c.503G>A (p.Arg168Lys) MUTYH:c.923G>A (p.Arg308Lys) BARD1:c.1360C>G BARD1:c.1360C>G (p.Pro454Ala) BARD1:c.1303C>G (p.Pro435Ala) BARD1:c.159-16712C>G BARD1:c.216-16712C>G BARD1:c.364+23030C>G MSH2:c.701C>T (p.Thr234Ile) MSH2:c.701C>T MSH2:c.503C>T (p.Thr168Ile) APC:c.3011A>G (p.Tyr1004Cys) APC:c.2987A>G (p.Tyr996Cys) APC:c.2882A>G (p.Tyr961Cys) APC:c.2873A>G (p.Tyr958Cys) APC:c.2834A>G (p.Tyr945Cys) APC:c.2780A>G (p.Tyr927Cys) APC:c.2684A>G (p.Tyr895Cys) APC:c.2654A>G (p.Tyr885Cys) APC:c.2579A>G (p.Tyr860Cys) APC:c.2477A>G (p.Tyr826Cys) APC:c.2108A>G (p.Tyr703Cys) APC:c.3401G>A (p.Gly1134Asp) APC:c.3377G>A (p.Gly1126Asp) APC:c.3272G>A (p.Gly1091Asp) APC:c.3263G>A (p.Gly1088Asp) APC:c.3224G>A (p.Gly1075Asp) APC:c.3170G>A (p.Gly1057Asp) APC:c.3074G>A (p.Gly1025Asp) APC:c.3044G>A (p.Gly1015Asp) APC:c.2969G>A (p.Gly990Asp) APC:c.2867G>A (p.Gly956Asp) APC:c.2498G>A (p.Gly833Asp) BRCA2:c.6614T>G (p.Val2205Gly) CDH1:c.2026G>A CDH1:c.1843G>A (p.Asp615Asn) CDH1:c.478G>A (p.Asp160Asn) CDH1:c.61G>A (p.Asp21Asn) CDH1:c.2026G>A (p.Asp676Asn) RAD51D:c.355T>C (p.Cys119Arg) RAD51D:c.415T>C (p.Cys139Arg) RAD51D:c.145-632T>C STK11:c.632G>A (p.Arg211Gln) MUTYH:c.1038G>A (p.Ser346=) MUTYH:c.999G>A (p.Ser333=) MUTYH:c.987G>A (p.Ser329=) MUTYH:c.678G>A (p.Ser226=) MUTYH:c.954G>A (p.Ser318=) MUTYH:c.609G>A (p.Ser203=) MUTYH:c.1029G>A (p.Ser343=) MUTYH:c.409G>A (p.Ala137Thr) MUTYH:c.493G>A (p.Ala165Thr) MUTYH:c.454G>A (p.Ala152Thr) MUTYH:c.442G>A (p.Ala148Thr) MUTYH:c.133G>A (p.Ala45Thr) MUTYH:c.64G>A (p.Ala22Thr) MUTYH:c.484G>A (p.Ala162Thr) MLH1:c.262C>A (p.His88Asn) MLH1:c.-261C>A MLH1:c.-374C>A MLH1:c.-271C>A MLH1:c.556C>A (p.His186Asn) MLH1:c.457C>A (p.His153Asn) MSH6:c.3782C>T (p.Ala1261Val) MSH6:c.3392C>T (p.Ala1131Val) MSH6:c.2876C>T (p.Ala959Val) MLH1:c.667C>T (p.Leu223Phe) MLH1:c.616C>T (p.Leu206Phe) MLH1:c.1690C>T (p.Leu564Phe) MLH1:c.1591C>T (p.Leu531Phe) RAD51C:c.779G>C RAD51C:c.*14739G>C RAD51C:c.779G>C (p.Arg260Pro) RAD51C:c.*207G>C PMS2:c.762A>G (p.Ile254Met) PMS2:c.675A>G (p.Ile225Met) PMS2:c.147A>G (p.Ile49Met) PMS2:c.507A>G (p.Ile169Met) PMS2:c.1080A>G (p.Ile360Met) PMS2:c.771A>G (p.Ile257Met) PMS2:c.583+2109A>G PMS2:c.988+2109A>G PMS2:c.1080A>G PMS2:c.277C>T (p.Arg93Cys) PMS2:c.190C>T (p.Arg64Cys) PMS2:c.-339C>T PMS2:c.595C>T (p.Arg199Cys) PMS2:c.286C>T (p.Arg96Cys) PMS2:c.133-1795C>T PMS2:c.595C>T ATM:c.4196C>A (p.Thr1399Asn) BRCA2:c.8450G>T (p.Cys2817Phe) BRCA1:c.712A>G (p.Arg238Gly) BRCA1:c.949A>G (p.Arg317Gly) BRCA1:c.589A>G (p.Arg197Gly) BRCA1:c.205A>G (p.Arg69Gly) BRCA1:c.1093A>G (p.Arg365Gly) BRCA1:c.952A>G (p.Arg318Gly) BRCA1:c.787+306A>G APC:c.5633A>G (p.Asp1878Gly) APC:c.5528A>G (p.Asp1843Gly) APC:c.5519A>G (p.Asp1840Gly) APC:c.5480A>G (p.Asp1827Gly) APC:c.5426A>G (p.Asp1809Gly) APC:c.5330A>G (p.Asp1777Gly) APC:c.5300A>G (p.Asp1767Gly) APC:c.5225A>G (p.Asp1742Gly) APC:c.5123A>G (p.Asp1708Gly) APC:c.4754A>G (p.Asp1585Gly) APC:c.5603A>G PMS2:c.1769C>T (p.Ala590Val) PMS2:c.2018C>T (p.Ala673Val) PMS2:c.1856C>T (p.Ala619Val) PMS2:c.1613C>T (p.Ala538Val) PMS2:c.1241C>T (p.Ala414Val) PMS2:c.1601C>T (p.Ala534Val) PMS2:c.2174C>T (p.Ala725Val) PMS2:c.1865C>T (p.Ala622Val) PMS2:c.917T>C (p.Val306Ala) PMS2:c.599T>C (p.Val200Ala) PMS2:c.512T>C (p.Val171Ala) PMS2:c.-17T>C PMS2:c.344T>C (p.Val115Ala) PMS2:c.608T>C (p.Val203Ala) PMS2:c.917T>C ATM:c.566G>C (p.Arg189Thr) ATM:c.5267C>G (p.Thr1756Arg) PMS2:c.1601+1G>C PMS2:c.1241+1G>C PMS2:c.1769+1G>C PMS2:c.1865+1G>C PMS2:c.1856+1G>C PMS2:c.2018+1G>C PMS2:c.2174+1G>C PALB2:c.3244A>G (p.Ser1082Gly) CDH1:c.1996A>C CDH1:c.1813A>C (p.Asn605His) CDH1:c.448A>C (p.Asn150His) CDH1:c.31A>C (p.Asn11His) CDH1:c.1996A>C (p.Asn666His) BRIP1:c.3260A>G (p.Asn1087Ser) BRIP1:c.1208G>A (p.Arg403Gln) RAD51D:c.772G>A (p.Gly258Arg) RAD51D:c.832G>A (p.Gly278Arg) RAD51D:c.436G>A (p.Gly146Arg) RAD51D:c.409T>A (p.Cys137Ser) RAD51D:c.349T>A (p.Cys117Ser) RAD51D:c.145-638T>A BMPR1A:c.5C>T (p.Pro2Leu) CHEK2:c.1118A>G CHEK2:c.1247A>G (p.Lys416Arg) CHEK2:c.455A>G (p.Lys152Arg) CHEK2:c.917A>G (p.Lys306Arg) CHEK2:c.1118A>G (p.Lys373Arg) CHEK2:c.1031A>G (p.Lys344Arg) NBN:c.1343A>T (p.Gln448Leu) NBN:c.1097A>T (p.Gln366Leu) BRCA2:c.4793delT BRCA2:c.4793del (p.Leu1598fs) CHEK2:c.1052A>C CHEK2:c.1181A>C (p.Glu394Ala) CHEK2:c.389A>C (p.Glu130Ala) CHEK2:c.851A>C (p.Glu284Ala) CHEK2:c.1052A>C (p.Glu351Ala) CHEK2:c.1009-1071A>C SMAD4:c.172A>G (p.Ile58Val) MSH6:c.3856_3859del (p.Leu1286fs) MSH6:c.3466_3469del (p.Leu1156fs) MSH6:c.2950_2953del (p.Leu984fs) CDH1:c.1813A>G CDH1:c.1630A>G (p.Arg544Gly) CDH1:c.265A>G (p.Arg89Gly) CDH1:c.-153A>G CDH1:c.1813A>G (p.Arg605Gly) PALB2:c.1123C>A (p.Leu375Ile) BRIP1:c.1474-3T>C ATM:c.3080A>G (p.His1027Arg) MSH2:c.2195C>T (p.Thr732Ile) MSH2:c.2285C>T (p.Thr762Ile) MSH2:c.1925C>T (p.Thr642Ile) MSH2:c.1448C>T (p.Thr483Ile) MSH2:c.989C>T (p.Thr330Ile) MSH2:c.2345C>T (p.Thr782Ile) MSH6:c.899G>A (p.Arg300Gln) MSH6:c.509G>A (p.Arg170Gln) MSH6:c.-8G>A MSH6:c.3101G>A (p.Arg1034Gln) MSH6:c.2711G>A (p.Arg904Gln) MSH6:c.2195G>A (p.Arg732Gln) CDH1:c.2164+3A>G CDH1:c.616+3A>G CDH1:c.199+3A>G CDH1:c.1981+3A>G BRIP1:c.2563C>T (p.Arg855Cys) MSH6:c.3802-8T>G MSH6:c.2896-8T>G MSH6:c.3412-8T>G MUTYH:c.-277-7G>A MUTYH:c.-6-7G>A MUTYH:c.37-7G>A MUTYH:c.-218-7G>A ATM:c.2480A>G (p.Lys827Arg) MSH6:c.261-1G>C MSH6:c.-476-1G>C MSH6:c.237+7456G>C MSH6:c.-642-1G>C CDKN2A:c.-14C>T CDKN2A:c.-3-3633C>T CDKN2A:c.194-3633C>T MLH1:c.1244T>C (p.Ile415Thr) MLH1:c.515T>C (p.Ile172Thr) MLH1:c.464T>C (p.Ile155Thr) MLH1:c.1538T>C (p.Ile513Thr) MLH1:c.1439T>C (p.Ile480Thr) PMS2:c.2404G>A (p.Ala802Thr) PMS2:c.2242G>A (p.Ala748Thr) PMS2:c.2188G>A (p.Ala730Thr) PMS2:c.1999G>A (p.Ala667Thr) PMS2:c.1627G>A (p.Ala543Thr) PMS2:c.1987G>A (p.Ala663Thr) PMS2:c.2593G>A (p.Ala865Thr) PMS2:c.2251G>A (p.Ala751Thr) PMS2:c.2560G>A MUTYH:c.492G>A (p.Lys164=) MUTYH:c.576G>A (p.Lys192=) MUTYH:c.537G>A (p.Lys179=) MUTYH:c.525G>A (p.Lys175=) MUTYH:c.216G>A (p.Lys72=) MUTYH:c.147G>A (p.Lys49=) MUTYH:c.567G>A (p.Lys189=) MSH6:c.2983G>A (p.Glu995Lys) MSH6:c.2593G>A (p.Glu865Lys) MSH6:c.2077G>A (p.Glu693Lys) MSH6:c.3724C>T (p.Arg1242Cys) MSH6:c.3334C>T (p.Arg1112Cys) MSH6:c.2818C>T (p.Arg940Cys) NBN:c.91T>C (p.Cys31Arg) NBN:c.-206T>C BRCA2:c.8040C>G (p.Asp2680Glu) MSH6:c.3070C>T (p.Arg1024Trp) MSH6:c.2680C>T (p.Arg894Trp) MSH6:c.2164C>T (p.Arg722Trp) BRCA2:c.413_417del (p.Ser137_Cys138insTer) BRCA1:c.212A>T (p.His71Leu) BRCA1:c.506A>T (p.His169Leu) BRCA1:c.716A>T (p.His239Leu) BRCA1:c.575A>T (p.His192Leu) RAD51C:c.397C>G RAD51C:c.397C>G (p.Gln133Glu) ATM:c.6741T>G (p.Ile2247Met) ATM:c.641-16407A>C ATM:c.*38+9742A>C ATM:c.4631A>G (p.Tyr1544Cys) APC:c.7139G>T (p.Gly2380Val) APC:c.7034G>T (p.Gly2345Val) APC:c.7025G>T (p.Gly2342Val) APC:c.6986G>T (p.Gly2329Val) APC:c.6932G>T (p.Gly2311Val) APC:c.6836G>T (p.Gly2279Val) APC:c.6806G>T (p.Gly2269Val) APC:c.6731G>T (p.Gly2244Val) APC:c.6629G>T (p.Gly2210Val) APC:c.6260G>T (p.Gly2087Val) APC:c.7109G>T BRCA1:c.2265_2266insGCAG (p.Thr757Glyfs) BRCA1:c.2502_2503insGCAG (p.Thr836Glyfs) BRCA1:c.2142_2143insGCAG (p.Thr716Glyfs) BRCA1:c.1758_1759insGCAG (p.Thr588Glyfs) BRCA1:c.2646_2647insGCAG (p.Thr884Glyfs) BRCA1:c.2649_2650insGGCA (p.Thr884fs) BRCA1:c.2508_2509insGGCA (p.Thr837fs) BRCA1:c.788-1850_788-1849insGCAG BRCA1:c.-167G>A BRCA1:c.-286G>A BRCA1:c.22G>A (p.Val8Ile) BRCA1:c.-66G>A BRCA1:c.1707dup (p.Glu572Argfs) BRCA1:c.1944dup (p.Glu651Argfs) BRCA1:c.1584dup (p.Glu531Argfs) BRCA1:c.1200dup (p.Glu403Argfs) BRCA1:c.2088dup (p.Glu699Argfs) BRCA1:c.2090dup (p.Glu699fs) BRCA1:c.1949dup (p.Glu652fs) BRCA1:c.787+1303dup CHEK2:c.1008G>A CHEK2:c.1137G>A (p.Gln379=) CHEK2:c.345G>A (p.Gln115=) CHEK2:c.807G>A (p.Gln269=) CHEK2:c.1008G>A (p.Gln336=) MLH1:c.687-8C>T MLH1:c.387-8C>T MLH1:c.336-8C>T MLH1:c.1116-8C>T MLH1:c.1410-8C>T APC:c.3661G>C (p.Gly1221Arg) APC:c.3637G>C (p.Gly1213Arg) APC:c.3532G>C (p.Gly1178Arg) APC:c.3523G>C (p.Gly1175Arg) APC:c.3484G>C (p.Gly1162Arg) APC:c.3430G>C (p.Gly1144Arg) APC:c.3334G>C (p.Gly1112Arg) APC:c.3304G>C (p.Gly1102Arg) APC:c.3229G>C (p.Gly1077Arg) APC:c.3127G>C (p.Gly1043Arg) APC:c.2758G>C (p.Gly920Arg) MSH6:c.3607C>A (p.His1203Asn) MSH6:c.3217C>A (p.His1073Asn) MSH6:c.2701C>A (p.His901Asn) APC:c.6972T>A (p.Asp2324Glu) APC:c.6948T>A (p.Asp2316Glu) APC:c.6843T>A (p.Asp2281Glu) APC:c.6834T>A (p.Asp2278Glu) APC:c.6795T>A (p.Asp2265Glu) APC:c.6741T>A (p.Asp2247Glu) APC:c.6645T>A (p.Asp2215Glu) APC:c.6615T>A (p.Asp2205Glu) APC:c.6540T>A (p.Asp2180Glu) APC:c.6438T>A (p.Asp2146Glu) APC:c.6069T>A (p.Asp2023Glu) BRCA2:c.9932C>T (p.Pro3311Leu) BRCA2:c.3077A>G (p.Lys1026Arg) BRCA1:c.1667A>G (p.Lys556Arg) BRCA1:c.1904A>G (p.Lys635Arg) BRCA1:c.1544A>G (p.Lys515Arg) BRCA1:c.1160A>G (p.Lys387Arg) BRCA1:c.2048A>G (p.Lys683Arg) BRCA1:c.1907A>G (p.Lys636Arg) BRCA1:c.787+1261A>G BRIP1:c.2705T>C (p.Ile902Thr) APC:c.2263T>C (p.Tyr755His) APC:c.2239T>C (p.Tyr747His) APC:c.2134T>C (p.Tyr712His) APC:c.2125T>C (p.Tyr709His) APC:c.2086T>C (p.Tyr696His) APC:c.2032T>C (p.Tyr678His) APC:c.1936T>C (p.Tyr646His) APC:c.1906T>C (p.Tyr636His) APC:c.1831T>C (p.Tyr611His) APC:c.1729T>C (p.Tyr577His) APC:c.1360T>C (p.Tyr454His) PALB2:c.2272C>A (p.Pro758Thr) PALB2:c.127A>G (p.Lys43Glu) RAD51D:c.38C>T (p.Thr13Ile) STK11:c.1063G>A (p.Asp355Asn) APC:c.2465A>G (p.Asn822Ser) APC:c.2441A>G (p.Asn814Ser) APC:c.2336A>G (p.Asn779Ser) APC:c.2327A>G (p.Asn776Ser) APC:c.2288A>G (p.Asn763Ser) APC:c.2234A>G (p.Asn745Ser) APC:c.2138A>G (p.Asn713Ser) APC:c.2108A>G (p.Asn703Ser) APC:c.2033A>G (p.Asn678Ser) APC:c.1931A>G (p.Asn644Ser) APC:c.1562A>G (p.Asn521Ser) MSH6:c.170C>G (p.Pro57Arg) MSH6:c.-567C>G APC:c.3479A>G (p.Asn1160Ser) APC:c.3455A>G (p.Asn1152Ser) APC:c.3350A>G (p.Asn1117Ser) APC:c.3341A>G (p.Asn1114Ser) APC:c.3302A>G (p.Asn1101Ser) APC:c.3248A>G (p.Asn1083Ser) APC:c.3152A>G (p.Asn1051Ser) APC:c.3122A>G (p.Asn1041Ser) APC:c.3047A>G (p.Asn1016Ser) APC:c.2945A>G (p.Asn982Ser) APC:c.2576A>G (p.Asn859Ser) BRCA2:c.5625G>T (p.Lys1875Asn) BRIP1:c.791G>A (p.Arg264Gln) CDH1:c.1202C>T CDH1:c.-414C>T CDH1:c.-618C>T CDH1:c.1202C>T (p.Ala401Val) CDH1:c.1137+1114C>T BARD1:c.344T>C BARD1:c.344T>C (p.Leu115Pro) BARD1:c.287T>C (p.Leu96Pro) BARD1:c.158+17095T>C BARD1:c.215+4744T>C PMS2:c.444T>A (p.Ser148Arg) PMS2:c.849T>A (p.Ser283Arg) PMS2:c.531T>A (p.Ser177Arg) PMS2:c.-85T>A PMS2:c.276T>A (p.Ser92Arg) PMS2:c.540T>A (p.Ser180Arg) ATM:c.8998C>G (p.Gln3000Glu) ATM:c.640+20585G>C ATM:c.694+20585G>C PALB2:c.3500C>T (p.Thr1167Ile) CHEK2:c.653T>C (p.Val218Ala) CHEK2:c.-254T>C CHEK2:c.524T>C (p.Val175Ala) CHEK2:c.445-122T>C CHEK2:c.524T>C PMS2:c.1436A>G (p.Lys479Arg) PMS2:c.1685A>G (p.Lys562Arg) PMS2:c.1523A>G (p.Lys508Arg) PMS2:c.1280A>G (p.Lys427Arg) PMS2:c.908A>G (p.Lys303Arg) PMS2:c.1268A>G (p.Lys423Arg) PMS2:c.1841A>G (p.Lys614Arg) PMS2:c.1532A>G (p.Lys511Arg) RAD51D:c.620C>G (p.Ser207Trp) RAD51D:c.680C>G (p.Ser227Trp) RAD51D:c.284C>G (p.Ser95Trp) BRCA2:c.9604C>T (p.Pro3202Ser) BARD1:c.2033A>G BARD1:c.2033A>G (p.Tyr678Cys) BARD1:c.1976A>G (p.Tyr659Cys) BARD1:c.680A>G (p.Tyr227Cys) BARD1:c.623A>G (p.Tyr208Cys) BARD1:c.494A>G (p.Tyr165Cys) APC:c.878G>A (p.Ser293Asn) APC:c.908G>A (p.Ser303Asn) APC:c.803G>A (p.Ser268Asn) APC:c.794G>A (p.Ser265Asn) APC:c.701G>A (p.Ser234Asn) APC:c.29G>A (p.Ser10Asn) MSH6:c.3160A>G (p.Ile1054Val) MSH6:c.2770A>G (p.Ile924Val) MSH6:c.2254A>G (p.Ile752Val) RAD51C:c.19C>A RAD51C:c.19C>A (p.Arg7Ser) NBN:c.1382C>T (p.Pro461Leu) NBN:c.1136C>T (p.Pro379Leu) PMS2:c.-165G>C PMS2:c.241G>C (p.Glu81Gln) PMS2:c.26G>C (p.Arg9Pro) PMS2:c.-644G>C PMS2:c.-244G>C PALB2:c.109-5T>C APC:c.5321C>T (p.Ser1774Phe) APC:c.5297C>T (p.Ser1766Phe) APC:c.5192C>T (p.Ser1731Phe) APC:c.5183C>T (p.Ser1728Phe) APC:c.5144C>T (p.Ser1715Phe) APC:c.5090C>T (p.Ser1697Phe) APC:c.4994C>T (p.Ser1665Phe) APC:c.4964C>T (p.Ser1655Phe) APC:c.4889C>T (p.Ser1630Phe) APC:c.4787C>T (p.Ser1596Phe) APC:c.4418C>T (p.Ser1473Phe) ATM:c.4652A>G (p.Asp1551Gly) BRCA2:c.3901A>T (p.Thr1301Ser) ATM:c.6629A>C (p.Gln2210Pro) ATM:c.641-16295T>G ATM:c.*38+9854T>G PALB2:c.1468C>T (p.Pro490Ser) PALB2:c.1376A>G (p.Asp459Gly) BRCA2:c.9486_9488del (p.Met3162_Lys3163delinsIle) APC:c.6707G>C (p.Arg2236Pro) APC:c.6602G>C (p.Arg2201Pro) APC:c.6593G>C (p.Arg2198Pro) APC:c.6554G>C (p.Arg2185Pro) APC:c.6500G>C (p.Arg2167Pro) APC:c.6404G>C (p.Arg2135Pro) APC:c.6374G>C (p.Arg2125Pro) APC:c.6299G>C (p.Arg2100Pro) APC:c.6197G>C (p.Arg2066Pro) APC:c.5828G>C (p.Arg1943Pro) APC:c.6677G>C BRCA2:c.2651C>T (p.Ser884Leu) BRCA2:c.2860delG BRCA2:c.2860del (p.Glu954fs) RAD51C:c.199G>C (p.Glu67Gln) RAD51C:c.199G>C PALB2:c.1206del (p.Leu403fs) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) ATM:c.7271T>G (p.Val2424Gly) ATM:c.641-20131A>C ATM:c.*38+6018A>C BRIP1:c.139C>G (p.Pro47Ala) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) TP53:c.448C>T (p.Arg150Trp) TP53:c.727C>T (p.Arg243Trp) TP53:c.367C>T (p.Arg123Trp) BRCA1:c.2T>G (p.Met1Arg) BRCA1:c.49T>G (p.Cys17Gly) BRCA1:c.190T>G (p.Cys64Gly) MLH1:c.914A>G (p.Tyr305Cys) MLH1:c.863A>G (p.Tyr288Cys) MLH1:c.1838A>G (p.Tyr613Cys) MLH1:c.1772A>G (p.Tyr591Cys) MLH1:c.1897-347A>G MLH1:c.1896+874A>G BRCA1:c.-35C>T BRCA1:c.13C>T (p.Leu5Phe) BRCA1:c.154C>T (p.Leu52Phe) BRCA1:c.2049delC (p.Lys685Argfs) BRCA1:c.2286delC (p.Lys764Argfs) BRCA1:c.1926delC (p.Lys644Argfs) BRCA1:c.1542delC (p.Lys516Argfs) BRCA1:c.2430delC (p.Lys812Argfs) BRCA1:c.2433del (p.Lys812fs) BRCA1:c.2292del (p.Lys765fs) BRCA1:c.787+1646del BRCA1:c.2866A>C (p.Met956Leu) BRCA1:c.3103A>C (p.Met1035Leu) BRCA1:c.2743A>C (p.Met915Leu) BRCA1:c.2359A>C (p.Met787Leu) BRCA1:c.3247A>C (p.Met1083Leu) BRCA1:c.3106A>C (p.Met1036Leu) BRCA1:c.788-1252A>C BRCA1:c.3955+1G>A BRCA1:c.788-402G>A BRCA1:c.4096+1G>A BRCA2:c.1755_1759del (p.Lys585fs) BRCA2:c.2426T>G (p.Leu809Ter) BRCA2:c.4058_4062del (p.Glu1353fs) BRCA2:c.440A>T (p.Gln147Leu) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.4965C>G (p.Tyr1655Ter) BRCA2:c.5238dup (p.Asn1747Ter) BRCA2:c.5655C>A (p.Cys1885Ter) BRCA2:c.7007G>A (p.Arg2336His) BRCA2:c.7414_7415del (p.Lys2472fs) BRCA2:c.7598C>G (p.Ser2533Cys) BRCA2:c.7976G>A (p.Arg2659Lys) BRCA2:c.8585dup BRCA2:c.8585dup (p.Glu2863fs) BRCA2:c.865A>G (p.Asn289Asp) BRCA2:c.8869C>T (p.Gln2957Ter) BRCA2:c.9117G>A (p.Pro3039=) BRCA2:c.9294C>G (p.Tyr3098Ter) BRCA2:c.9380G>A (p.Trp3127Ter) BRCA2:c.938C>T (p.Ser313Phe) BRCA2:c.9812T>C (p.Leu3271Ser) APC:c.6778A>G (p.Ser2260Gly) APC:c.6754A>G (p.Ser2252Gly) APC:c.6649A>G (p.Ser2217Gly) APC:c.6640A>G (p.Ser2214Gly) APC:c.6601A>G (p.Ser2201Gly) APC:c.6547A>G (p.Ser2183Gly) APC:c.6451A>G (p.Ser2151Gly) APC:c.6421A>G (p.Ser2141Gly) APC:c.6346A>G (p.Ser2116Gly) APC:c.6244A>G (p.Ser2082Gly) APC:c.5875A>G (p.Ser1959Gly) APC:c.2234C>T (p.Ala745Val) APC:c.2129C>T (p.Ala710Val) APC:c.2120C>T (p.Ala707Val) APC:c.2081C>T (p.Ala694Val) APC:c.2027C>T (p.Ala676Val) APC:c.1931C>T (p.Ala644Val) APC:c.1901C>T (p.Ala634Val) APC:c.1826C>T (p.Ala609Val) APC:c.1724C>T (p.Ala575Val) APC:c.1355C>T (p.Ala452Val) APC:c.2204C>T APC:c.3406A>G (p.Asn1136Asp) APC:c.3382A>G (p.Asn1128Asp) APC:c.3277A>G (p.Asn1093Asp) APC:c.3268A>G (p.Asn1090Asp) APC:c.3229A>G (p.Asn1077Asp) APC:c.3175A>G (p.Asn1059Asp) APC:c.3079A>G (p.Asn1027Asp) APC:c.3049A>G (p.Asn1017Asp) APC:c.2974A>G (p.Asn992Asp) APC:c.2872A>G (p.Asn958Asp) APC:c.2503A>G (p.Asn835Asp) CDKN2A:c.373G>C (p.Asp125His) CDKN2A:c.220G>C (p.Asp74His) CDKN2A:c.*17G>C CDKN2A:c.*296G>C PMS2:c.1744G>A (p.Val582Met) PMS2:c.1993G>A (p.Val665Met) PMS2:c.1831G>A (p.Val611Met) PMS2:c.1588G>A (p.Val530Met) PMS2:c.1216G>A (p.Val406Met) PMS2:c.1576G>A (p.Val526Met) PMS2:c.2149G>A (p.Val717Met) PMS2:c.1840G>A (p.Val614Met) PMS2:c.53T>C (p.Ile18Thr) PMS2:c.-163T>C PMS2:c.-353T>C PMS2:c.-832T>C PMS2:c.-432T>C PMS2:c.-52-1944T>C PMS2:c.-242-1944T>C PMS2:c.167A>G (p.Tyr56Cys) PMS2:c.572A>G (p.Tyr191Cys) PMS2:c.254A>G (p.Tyr85Cys) PMS2:c.263A>G (p.Tyr88Cys) PMS2:c.133-1818A>G PMS2:c.-347-15A>G PMS2:c.953A>G (p.Tyr318Cys) PMS2:c.635A>G (p.Tyr212Cys) PMS2:c.548A>G (p.Tyr183Cys) PMS2:c.20A>G (p.Tyr7Cys) PMS2:c.380A>G (p.Tyr127Cys) PMS2:c.644A>G (p.Tyr215Cys) PMS2:c.953A>G APC:c.7445C>T (p.Ala2482Val) APC:c.7340C>T (p.Ala2447Val) APC:c.7331C>T (p.Ala2444Val) APC:c.7292C>T (p.Ala2431Val) APC:c.7238C>T (p.Ala2413Val) APC:c.7142C>T (p.Ala2381Val) APC:c.7112C>T (p.Ala2371Val) APC:c.7037C>T (p.Ala2346Val) APC:c.6935C>T (p.Ala2312Val) APC:c.6566C>T (p.Ala2189Val) APC:c.7415C>T MUTYH:c.1034C>T (p.Ala345Val) MUTYH:c.1118C>T (p.Ala373Val) MUTYH:c.1079C>T (p.Ala360Val) MUTYH:c.1067C>T (p.Ala356Val) MUTYH:c.758C>T (p.Ala253Val) MUTYH:c.689C>T (p.Ala230Val) MUTYH:c.1109C>T (p.Ala370Val) MUTYH:c.32G>A (p.Gly11Asp) MUTYH:c.74G>A (p.Gly25Asp) MUTYH:c.-181G>A MUTYH:c.-240G>A MUTYH:c.-176G>A BMPR1A:c.1243G>A (p.Glu415Lys) SMAD4:c.1573A>G (p.Ile525Val) SMAD4:c.565C>T (p.Arg189Cys) BRCA1:c.1384G>A (p.Glu462Lys) BRCA1:c.1381G>A (p.Glu461Lys) BMPR1A:c.1433G>A (p.Arg478His) BRCA2:c.3103G>T (p.Glu1035Ter) BRCA2:c.3206C>T (p.Ser1069Phe) BRCA2:c.3680_3681del (p.Leu1227fs) BRCA2:c.5158dup BRCA2:c.5158dup (p.Ser1720fs) BRCA2:c.5542del (p.Ser1848fs) BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.6124C>T (p.Gln2042Ter) BRCA2:c.8215G>A (p.Val2739Ile) BRCA2:c.442T>C (p.Cys148Arg) BRCA2:c.9182T>A (p.Leu3061Ter) BRCA2:c.5925T>A (p.Cys1975Ter) BRCA2:c.9770A>G (p.Lys3257Arg) BRCA1:c.800dup (p.Val270Glyfs) BRCA1:c.797dup (p.Val269Glyfs) BRCA1:c.887dup (p.Val299Glyfs) BRCA1:c.-136A>G BRCA1:c.-20A>G BRCA1:c.-67A>G BRCA1:c.2648_2649delCT (p.Pro883Argfs) BRCA1:c.2885_2886delCT (p.Pro962Argfs) BRCA1:c.2525_2526delCT (p.Pro842Argfs) BRCA1:c.2141_2142delCT (p.Pro714Argfs) BRCA1:c.3029_3030delCT (p.Pro1010Argfs) BRCA1:c.3029_3030del (p.Pro1010fs) BRCA1:c.2888_2889del (p.Pro963fs) BRCA1:c.788-1470_788-1469del BRCA1:c.127C>T (p.Arg43Trp) BRCA1:c.298C>T (p.Arg100Trp) BRCA1:c.508C>T (p.Arg170Trp) BRCA1:c.367C>T (p.Arg123Trp) BRCA1:c.1493A>G (p.Tyr498Cys) BRCA1:c.1466A>G (p.Tyr489Cys) BRCA1:c.1070A>G (p.Tyr357Cys) BRCA1:c.5306A>G (p.Tyr1769Cys) BRCA1:c.5165A>G (p.Tyr1722Cys) BRCA1:c.1994A>G (p.Tyr665Cys) BRCA1:c.5369A>G (p.Tyr1790Cys) BRCA1:c.5219dup (p.Tyr1740Terfs) BRCA1:c.5177dup (p.Tyr1726Terfs) BRCA1:c.5174dup (p.Tyr1725Terfs) BRCA1:c.5171dup (p.Tyr1724Terfs) BRCA1:c.5096dup (p.Tyr1699Terfs) BRCA1:c.5051dup (p.Tyr1684Terfs) BRCA1:c.4670dup (p.Tyr1557Terfs) BRCA1:c.4667dup (p.Tyr1556Terfs) BRCA1:c.2954dup (p.Tyr985Terfs) BRCA2:c.748del (p.Ser249_Val250insTer) MSH6:c.1402C>T (p.Arg468Cys) MSH6:c.1012C>T (p.Arg338Cys) MSH6:c.496C>T (p.Arg166Cys) MSH6:c.2408A>G (p.Asp803Gly) MSH6:c.2018A>G (p.Asp673Gly) MSH6:c.1502A>G (p.Asp501Gly) MSH6:c.3939_3957dup19 MSH6:c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) MSH6:c.3549_3567dup (p.Ala1190delinsSerLysGlyThrTer) MSH6:c.3033_3051dup (p.Ala1018delinsSerLysGlyThrTer) MLH1:c.661G>A (p.Glu221Lys) MLH1:c.-69G>A MLH1:c.955G>A (p.Glu319Lys) MLH1:c.856G>A (p.Glu286Lys) MLH1:c.-36-5257G>A MSH2:c.991A>G MSH2:c.991A>G (p.Asn331Asp) MSH2:c.793A>G (p.Asn265Asp) PMS2:c.1601+1G>A PMS2:c.1241+1G>A PMS2:c.1769+1G>A PMS2:c.1865+1G>A PMS2:c.1856+1G>A PMS2:c.2018+1G>A PMS2:c.2174+1G>A BRCA2:c.7865A>G (p.Asn2622Ser) BRCA2:c.2808del (p.Lys936fs) BRCA2:c.3700C>A (p.Leu1234Met) BRCA2:c.631+7A>G BRCA1:c.76A>G (p.Ser26Gly) BRCA1:c.247A>G (p.Ser83Gly) BRCA1:c.457A>G (p.Ser153Gly) BRCA1:c.316A>G (p.Ser106Gly) BRCA2:c.8188G>C (p.Ala2730Pro) PALB2:c.1001A>G (p.Tyr334Cys) PALB2:c.1250C>A (p.Ser417Tyr) PALB2:c.1317del (p.Phe440fs) PALB2:c.1699C>T (p.His567Tyr) PALB2:c.2200A>T (p.Thr734Ser) PALB2:c.2674G>A (p.Glu892Lys) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.298C>T (p.Leu100Phe) PALB2:c.3048del (p.Phe1016fs) PALB2:c.3128G>C (p.Gly1043Ala) PALB2:c.3428T>A (p.Leu1143His) PALB2:c.400G>A (p.Asp134Asn) PALB2:c.509_510del (p.Arg170fs) PALB2:c.656A>G (p.Asp219Gly) PALB2:c.721A>G (p.Asn241Asp) PALB2:c.757_758del (p.Leu253fs) PALB2:c.94C>G (p.Leu32Val) CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) NBN:c.1016T>C (p.Leu339Ser) NBN:c.1262T>C (p.Leu421Ser) APC:c.6527C>G (p.Pro2176Arg) APC:c.6503C>G (p.Pro2168Arg) APC:c.6398C>G (p.Pro2133Arg) APC:c.6389C>G (p.Pro2130Arg) APC:c.6350C>G (p.Pro2117Arg) APC:c.6296C>G (p.Pro2099Arg) APC:c.6200C>G (p.Pro2067Arg) APC:c.6170C>G (p.Pro2057Arg) APC:c.6095C>G (p.Pro2032Arg) APC:c.5993C>G (p.Pro1998Arg) APC:c.5624C>G (p.Pro1875Arg) APC:c.6911C>T (p.Ala2304Val) APC:c.6887C>T (p.Ala2296Val) APC:c.6782C>T (p.Ala2261Val) APC:c.6773C>T (p.Ala2258Val) APC:c.6734C>T (p.Ala2245Val) APC:c.6680C>T (p.Ala2227Val) APC:c.6584C>T (p.Ala2195Val) APC:c.6554C>T (p.Ala2185Val) APC:c.6479C>T (p.Ala2160Val) APC:c.6377C>T (p.Ala2126Val) APC:c.6008C>T (p.Ala2003Val) ATM:c.1010G>A (p.Arg337His) ATM:c.1564_1565del (p.Glu522fs) ATM:c.2333A>G (p.Asn778Ser) ATM:c.295A>G (p.Ser99Gly) ATM:c.334G>A (p.Ala112Thr) ATM:c.4066A>G (p.Asn1356Asp) ATM:c.4362A>C (p.Lys1454Asn) ATM:c.5089A>G (p.Thr1697Ala) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.610G>A (p.Gly204Arg) ATM:c.6176C>T (p.Thr2059Ile) ATM:c.641-7020G>A ATM:c.*39-7020G>A ATM:c.68G>A (p.Arg23Gln) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C ATM:c.8113G>A (p.Val2705Ile) ATM:c.641-26000C>T ATM:c.*38+149C>T ATM:c.9086G>A (p.Gly3029Asp) ATM:c.640+20497C>T ATM:c.694+20497C>T CDKN2A:c.-25C>T CDKN2A:c.-3-3644C>T CDKN2A:c.194-3644C>T CDKN2A:c.369T>A (p.His123Gln) CDKN2A:c.216T>A (p.His72Gln) CDKN2A:c.*13T>A CDKN2A:c.*292T>A MSH6:c.2173A>G (p.Ile725Val) MSH6:c.1783A>G (p.Ile595Val) MSH6:c.1267A>G (p.Ile423Val) MLH1:c.-647A>C MLH1:c.-760A>C MLH1:c.-657A>C MLH1:c.-560A>C MLH1:c.170A>C (p.Lys57Thr) MLH1:c.-723+2782A>C MLH1:c.-517+3009A>C MLH1:c.1436C>T (p.Ser479Leu) MLH1:c.707C>T (p.Ser236Leu) MLH1:c.656C>T (p.Ser219Leu) MLH1:c.1730C>T (p.Ser577Leu) MLH1:c.1631C>T (p.Ser544Leu) PTEN:c.882T>G PTEN:c.882T>G (p.Ser294Arg) PTEN:c.1401T>G (p.Ser467Arg) PTEN:c.291T>G (p.Ser97Arg) BARD1:c.1694G>A BARD1:c.1694G>A (p.Arg565His) BARD1:c.1637G>A (p.Arg546His) BARD1:c.341G>A (p.Arg114His) BARD1:c.284G>A (p.Arg95His) BARD1:c.365-15330G>A BARD1:c.2116A>G BARD1:c.2116A>G (p.Lys706Glu) BARD1:c.2059A>G (p.Lys687Glu) BARD1:c.763A>G (p.Lys255Glu) BARD1:c.706A>G (p.Lys236Glu) BARD1:c.577A>G (p.Lys193Glu) BARD1:c.2191C>G BARD1:c.2191C>G (p.Arg731Gly) BARD1:c.2134C>G (p.Arg712Gly) BARD1:c.838C>G (p.Arg280Gly) BARD1:c.781C>G (p.Arg261Gly) BARD1:c.652C>G (p.Arg218Gly) BARD1:c.2282G>A BARD1:c.2282G>A (p.Ser761Asn) BARD1:c.2225G>A (p.Ser742Asn) BARD1:c.929G>A (p.Ser310Asn) BARD1:c.872G>A (p.Ser291Asn) BARD1:c.743G>A (p.Ser248Asn) BARD1:c.620A>G BARD1:c.620A>G (p.Lys207Arg) BARD1:c.563A>G (p.Lys188Arg) BARD1:c.158+28158A>G BARD1:c.215+15807A>G BARD1:c.364+11043A>G BARD1:c.668A>G BARD1:c.668A>G (p.Glu223Gly) BARD1:c.611A>G (p.Glu204Gly) BARD1:c.158+28206A>G BARD1:c.215+15855A>G BARD1:c.364+11091A>G BARD1:c.776A>G BARD1:c.776A>G (p.Asp259Gly) BARD1:c.719A>G (p.Asp240Gly) BARD1:c.158+28314A>G BARD1:c.215+15963A>G BARD1:c.364+11199A>G PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G PMS2:c.1607C>T (p.Thr536Met) PMS2:c.1856C>T (p.Thr619Met) PMS2:c.1694C>T (p.Thr565Met) PMS2:c.1451C>T (p.Thr484Met) PMS2:c.1079C>T (p.Thr360Met) PMS2:c.1439C>T (p.Thr480Met) PMS2:c.2012C>T (p.Thr671Met) PMS2:c.1703C>T (p.Thr568Met) PMS2:c.2194G>A (p.Asp732Asn) PMS2:c.2032G>A (p.Asp678Asn) PMS2:c.1978G>A (p.Asp660Asn) PMS2:c.1789G>A (p.Asp597Asn) PMS2:c.1417G>A (p.Asp473Asn) PMS2:c.1777G>A (p.Asp593Asn) PMS2:c.2383G>A (p.Asp795Asn) PMS2:c.2041G>A (p.Asp681Asn) PMS2:c.2350G>A PMS2:c.215G>A (p.Gly72Glu) PMS2:c.620G>A (p.Gly207Glu) PMS2:c.302G>A (p.Gly101Glu) PMS2:c.-314G>A PMS2:c.311G>A (p.Gly104Glu) PMS2:c.133-1770G>A TP53:c.28G>A TP53:c.28G>A (p.Val10Ile) TP53:c.-207G>A TP53:c.-90G>A TP53:c.91G>A (p.Val31Ile) TP53:c.91G>A TP53:c.-27G>A MUTYH:c.583A>G (p.Ile195Val) MUTYH:c.667A>G (p.Ile223Val) MUTYH:c.628A>G (p.Ile210Val) MUTYH:c.616A>G (p.Ile206Val) MUTYH:c.307A>G (p.Ile103Val) MUTYH:c.238A>G (p.Ile80Val) MUTYH:c.658A>G (p.Ile220Val) NBN:c.1222A>G (p.Lys408Glu) NBN:c.976A>G (p.Lys326Glu) NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) NBN:c.542T>C (p.Phe181Ser) NBN:c.788T>C (p.Phe263Ser) RAD51D:c.992T>C (p.Ile331Thr) RAD51D:c.932T>C (p.Ile311Thr) RAD51D:c.596T>C (p.Ile199Thr) CDH1:c.1223C>T CDH1:c.-393C>T CDH1:c.-597C>T CDH1:c.1223C>T (p.Ala408Val) CDH1:c.1137+1135C>T CDH1:c.1360G>A CDH1:c.1177G>A (p.Val393Ile) CDH1:c.-189G>A CDH1:c.-460G>A CDH1:c.1360G>A (p.Val454Ile) CDH1:c.2413G>A CDH1:c.2230G>A (p.Asp744Asn) CDH1:c.865G>A (p.Asp289Asn) CDH1:c.448G>A (p.Asp150Asn) CDH1:c.2413G>A (p.Asp805Asn) SMAD4:c.424+5G>A CHEK2:c.-6G>A CHEK2:c.-783G>A CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1470C>A CHEK2:c.1599C>A (p.Asp533Glu) CHEK2:c.807C>A (p.Asp269Glu) CHEK2:c.1269C>A (p.Asp423Glu) CHEK2:c.1470C>A (p.Asp490Glu) CHEK2:c.1383C>A (p.Asp461Glu) CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G PALB2:c.1240C>T (p.Arg414Ter) PALB2:c.3456dup (p.Pro1153fs) PALB2:c.928A>G (p.Ser310Gly) BRIP1:c.1246C>T (p.Arg416Trp) BRIP1:c.1735C>T (p.Arg579Cys) BRIP1:c.2706A>G (p.Ile902Met) BRIP1:c.584T>C (p.Leu195Pro) BRIP1:c.790C>T (p.Arg264Trp) BRIP1:c.890A>G (p.Lys297Arg) NBN:c.1636G>A (p.Glu546Lys) NBN:c.1882G>A (p.Glu628Lys) PALB2:c.1054G>C (p.Glu352Gln) APC:c.3905C>T (p.Thr1302Met) APC:c.3800C>T (p.Thr1267Met) APC:c.3791C>T (p.Thr1264Met) APC:c.3752C>T (p.Thr1251Met) APC:c.3698C>T (p.Thr1233Met) APC:c.3602C>T (p.Thr1201Met) APC:c.3572C>T (p.Thr1191Met) APC:c.3497C>T (p.Thr1166Met) APC:c.3395C>T (p.Thr1132Met) APC:c.3026C>T (p.Thr1009Met) APC:c.3875C>T APC:c.4973G>A (p.Arg1658Gln) APC:c.4949G>A (p.Arg1650Gln) APC:c.4844G>A (p.Arg1615Gln) APC:c.4835G>A (p.Arg1612Gln) APC:c.4796G>A (p.Arg1599Gln) APC:c.4742G>A (p.Arg1581Gln) APC:c.4646G>A (p.Arg1549Gln) APC:c.4616G>A (p.Arg1539Gln) APC:c.4541G>A (p.Arg1514Gln) APC:c.4439G>A (p.Arg1480Gln) APC:c.4070G>A (p.Arg1357Gln) APC:c.3632T>G (p.Met1211Arg) APC:c.3329T>G (p.Met1110Arg) APC:c.3254T>G (p.Met1085Arg) APC:c.3578T>G (p.Met1193Arg) APC:c.3152T>G (p.Met1051Arg) APC:c.2783T>G (p.Met928Arg) APC:c.3686T>G (p.Met1229Arg) APC:c.3632T>G APC:c.3662T>G (p.Met1221Arg) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.659C>T (p.Ala220Val) BRIP1:c.2236A>G (p.Ile746Val) BRIP1:c.2220G>T (p.Gln740His) BRIP1:c.2440C>T (p.Arg814Cys) BRIP1:c.3444C>A (p.Asp1148Glu) MUTYH:c.953C>T (p.Ser318Leu) MUTYH:c.1037C>T (p.Ser346Leu) MUTYH:c.998C>T (p.Ser333Leu) MUTYH:c.986C>T (p.Ser329Leu) MUTYH:c.677C>T (p.Ser226Leu) MUTYH:c.608C>T (p.Ser203Leu) MUTYH:c.1028C>T (p.Ser343Leu) MUTYH:c.1424G>A (p.Gly475Glu) MUTYH:c.1508G>A (p.Gly503Glu) MUTYH:c.1469G>A (p.Gly490Glu) MUTYH:c.1457G>A (p.Gly486Glu) MUTYH:c.1148G>A (p.Gly383Glu) MUTYH:c.1079G>A (p.Gly360Glu) MUTYH:c.1499G>A (p.Gly500Glu) STK11:c.1088C>T (p.Thr363Ile) PALB2:c.3504C>G (p.Asp1168Glu) PALB2:c.3504C>G MLH1:c.931C>G (p.Gln311Glu) MLH1:c.202C>G (p.Gln68Glu) MLH1:c.151C>G (p.Gln51Glu) MLH1:c.1225C>G (p.Gln409Glu) MLH1:c.1126C>G (p.Gln376Glu) PALB2:c.1285A>G (p.Ile429Val) NBN:c.1802A>G NBN:c.1556A>G (p.Asp519Gly) NBN:c.1802A>G (p.Asp601Gly) APC:c.8233G>A (p.Gly2745Arg) APC:c.8128G>A (p.Gly2710Arg) APC:c.8119G>A (p.Gly2707Arg) APC:c.8080G>A (p.Gly2694Arg) APC:c.8026G>A (p.Gly2676Arg) APC:c.7930G>A (p.Gly2644Arg) APC:c.7900G>A (p.Gly2634Arg) APC:c.7825G>A (p.Gly2609Arg) APC:c.7723G>A (p.Gly2575Arg) APC:c.7354G>A (p.Gly2452Arg) APC:c.8203G>A PALB2:c.3094A>T PALB2:c.3094A>T (p.Met1032Leu) BRCA2:c.4943delC BRCA2:c.4943del (p.Ala1648fs) BRCA1:c.-109delT BRCA1:c.63delT (p.Cys21Trpfs) BRCA1:c.273delT (p.Cys91Trpfs) BRCA1:c.273del (p.Cys91fs) BRCA1:c.132del (p.Cys44fs) SMAD4:c.520A>G SMAD4:c.520A>G (p.Thr174Ala) ATM:c.4864G>C ATM:c.4864G>C (p.Glu1622Gln) BRIP1:c.1420C>A (p.Leu474Ile) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T PMS2:c.137G>T ATM:c.1021G>A (p.Val341Ile) BRCA1:c.4962A>C (p.Glu1654Asp) BRCA1:c.1863A>C (p.Glu621Asp) BRCA1:c.1860A>C (p.Glu620Asp) BRCA1:c.1665A>C (p.Glu555Asp) BRCA1:c.1662A>C (p.Glu554Asp) BRCA1:c.1656A>C (p.Glu552Asp) BRCA1:c.1653A>C (p.Glu551Asp) BRCA1:c.4664C>T (p.Pro1555Leu) BRCA1:c.4661C>T (p.Pro1554Leu) BRCA1:c.273del (p.Cys91TrpfsTer28) BRCA1:c.132del (p.Cys44TrpfsTer28) BRCA1:c.1529C>A (p.Ser510Ter) BRCA1:c.1388C>A (p.Ser463Ter) BRCA1:c.787+742C>A (n.787+742C>A) BRCA1:c.1682_1683del (p.Ser561TyrfsTer4) BRCA1:c.1541_1542del (p.Ser514TyrfsTer4) BRCA1:c.787+895_787+896del (n.787+895_787+896del) BRCA1:c.2090dup (p.Glu699ArgfsTer13) BRCA1:c.1949dup (p.Glu652ArgfsTer13) BRCA1:c.787+1303dup (n.787+1303dup) BRCA1:c.2272_2273del (p.Leu758AlafsTer3) BRCA1:c.2131_2132del (p.Leu711AlafsTer3) BRCA1:c.787+1485_787+1486del (n.787+1485_787+1486del) BRCA1:c.3582_3589del (p.His1195PhefsTer21) BRCA1:c.3441_3448del (p.His1148PhefsTer21) BRCA1:c.788-917_788-910del (n.788-917_788-910del) BRCA1:c.4128_4129del (p.Ser1377ArgfsTer3) BRCA1:c.3987_3988del (p.Ser1330ArgfsTer3) BRCA1:c.819_820del (p.Ser274ArgfsTer3) BRCA1:c.4676-2A>G (n.4676-2A>G) BRCA1:c.4535-2A>G (n.4535-2A>G) BRCA1:c.1364-2A>G (n.1364-2A>G) BRCA1:c.4739-2A>G (n.4739-2A>G) BRCA1:c.5172dup (p.Glu1725ArgfsTer7) BRCA1:c.5031dup (p.Glu1678ArgfsTer7) BRCA1:c.1860dup (p.Glu621ArgfsTer7) BRCA1:c.5235dup (p.Glu1746ArgfsTer7) BRCA2:c.110C>G (p.Ser37Ter) BRCA2:c.267_268del (p.Leu90ValfsTer10) BRCA2:c.414T>A (p.Cys138Ter) BRCA2:c.486del (p.Ser163ValfsTer9) BRCA2:c.489_490insG (p.Leu164ValfsTer19) BRCA2:c.748del (p.Val250Ter) BRCA2:c.4058_4062del (p.Glu1353GlyfsTer6) BRCA2:c.4103T>A (p.Leu1368Ter) BRCA2:c.4793del (p.Leu1598ProfsTer19) BRCA2:c.4943del (p.Ala1648GlufsTer22) BRCA2:c.6320del (p.Pro2107LeufsTer12) BRCA2:c.6451del (p.Val2151PhefsTer17) BRCA2:c.6590_6593del (p.Thr2197LysfsTer8) BRCA2:c.7259_7265del (p.Glu2420ValfsTer?) BRCA2:c.7414_7415del (p.Lys2472ValfsTer2) BRCA2:c.8175del (p.Trp2725CysfsTer8) | nucleaotide-sequencing | Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer:2015 | |||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||
BARD1 gene XRCC2 gene RINT1 gene RAD51 gene NBN gene RAD50 gene MRE11 gene CHEK2 gene ATM gene | Breast Carcinoma | 1297 | BARD1:c.281A>C BARD1:c.281A>C (p.Asp94Ala) BARD1:c.224A>C (p.Asp75Ala) BARD1:c.158+17032A>C BARD1:c.215+4681A>C CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) RAD50:c.3036+5G>A RAD50:c.3879C>T (p.Ile1293=) RAD50:c.3879C>T RAD50:c.2910C>T RAD50:c.2910C>T (p.Asp970=) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.1810C>T (p.Pro604Ser) ATM:c.295A>G (p.Ser99Gly) ATM:c.3925G>A (p.Ala1309Thr) ATM:c.4388T>G (p.Phe1463Cys) ATM:c.4424A>G (p.Tyr1475Cys) ATM:c.4949A>G (p.Asn1650Ser) ATM:c.5089A>G (p.Thr1697Ala) ATM:c.5882A>G (p.Tyr1961Cys) ATM:c.641-1208T>C ATM:c.*39-1208T>C ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.6067G>A (p.Gly2023Arg) ATM:c.641-6812C>T ATM:c.*39-6812C>T ATM:c.6919C>T (p.Leu2307Phe) ATM:c.641-17098G>A ATM:c.*38+9051G>A ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C ATM:c.7390T>C (p.Cys2464Arg) ATM:c.641-21225A>G ATM:c.*38+4924A>G ATM:c.7475T>G (p.Leu2492Arg) ATM:c.641-21310A>C ATM:c.*38+4839A>C ATM:c.7740A>C (p.Arg2580Ser) ATM:c.641-22918T>G ATM:c.*38+3231T>G ATM:c.9086G>A (p.Gly3029Asp) ATM:c.640+20497C>T ATM:c.694+20497C>T BARD1:c.2191C>G BARD1:c.2191C>G (p.Arg731Gly) BARD1:c.2134C>G (p.Arg712Gly) BARD1:c.838C>G (p.Arg280Gly) BARD1:c.781C>G (p.Arg261Gly) BARD1:c.652C>G (p.Arg218Gly) BARD1:c.2282G>A BARD1:c.2282G>A (p.Ser761Asn) BARD1:c.2225G>A (p.Ser742Asn) BARD1:c.929G>A (p.Ser310Asn) BARD1:c.872G>A (p.Ser291Asn) BARD1:c.743G>A (p.Ser248Asn) BARD1:c.33G>T BARD1:c.33G>T (p.Gln11His) BARD1:c.716T>A BARD1:c.716T>A (p.Leu239Gln) BARD1:c.659T>A (p.Leu220Gln) BARD1:c.158+28254T>A BARD1:c.215+15903T>A BARD1:c.364+11139T>A NBN:c.1222A>G (p.Lys408Glu) NBN:c.976A>G (p.Lys326Glu) NBN:c.179A>G (p.Asn60Ser) NBN:c.425A>G (p.Asn142Ser) MRE11:c.1811G>A (p.Arg604His) MRE11:c.1808G>A (p.Arg603His) MRE11:c.1783+1353G>A RAD50:c.1094G>A RAD50:c.1094G>A (p.Arg365Gln) RAD50:c.2397G>C (p.Gln799His) RAD50:c.2397G>C RAD50:c.2525T>C (p.Val842Ala) RAD50:c.2525T>C RAD50:c.2750C>T RAD50:c.2750C>T (p.Thr917Ile) RAD50:c.671G>A (p.Arg224His) RAD50:c.671G>A RAD50:c.943G>T RAD50:c.943G>T (p.Val315Leu) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) NBN:c.104T>C (p.Ile35Thr) NBN:c.-193T>C BARD1:c.722C>G BARD1:c.722C>G (p.Ser241Cys) BARD1:c.665C>G (p.Ser222Cys) BARD1:c.158+28260C>G BARD1:c.215+15909C>G BARD1:c.364+11145C>G ATM:c.2494C>T (p.Arg832Cys) RAD50:c.3790C>T (p.Leu1264Phe) RAD50:c.3790C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) RAD50:c.1336A>G (p.Lys446Glu) RAD50:c.1336A>G BARD1:c.2161G>A BARD1:c.808G>A (p.Ala270Thr) BARD1:c.751G>A (p.Ala251Thr) BARD1:c.2161G>A (p.Ala721Thr) BARD1:c.622G>A (p.Ala208Thr) BARD1:c.2104G>A (p.Ala702Thr) ATM:c.2021A>G (p.His674Arg) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) BARD1:c.1409A>G BARD1:c.1409A>G (p.Asn470Ser) BARD1:c.1352A>G (p.Asn451Ser) BARD1:c.159-15086A>G BARD1:c.216-15086A>G BARD1:c.364+24656A>G CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) ATM:c.5890A>G (p.Lys1964Glu) ATM:c.641-1216T>C ATM:c.*39-1216T>C ATM:c.936A>C (p.Leu312Phe) BARD1:c.1933T>C BARD1:c.1933T>C (p.Cys645Arg) BARD1:c.1876T>C (p.Cys626Arg) BARD1:c.580T>C (p.Cys194Arg) BARD1:c.523T>C (p.Cys175Arg) BARD1:c.394T>C (p.Cys132Arg) BARD1:c.346C>T BARD1:c.346C>T (p.His116Tyr) BARD1:c.289C>T (p.His97Tyr) BARD1:c.158+17097C>T BARD1:c.215+4746C>T BARD1:c.1835A>T BARD1:c.1835A>T (p.Asp612Val) BARD1:c.1778A>T (p.Asp593Val) BARD1:c.482A>T (p.Asp161Val) BARD1:c.425A>T (p.Asp142Val) BARD1:c.365-14627A>T CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G ATM:c.1464G>T (p.Trp488Cys) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) RAD50:c.3902A>G RAD50:c.3902A>G (p.Lys1301Arg) BARD1:c.1347A>G BARD1:c.1347A>G (p.Gln449=) BARD1:c.1290A>G (p.Gln430=) BARD1:c.159-16725A>G BARD1:c.216-16725A>G BARD1:c.364+23017A>G BARD1:c.1339C>G BARD1:c.1339C>G (p.Leu447Val) BARD1:c.1282C>G (p.Leu428Val) BARD1:c.159-16733C>G BARD1:c.216-16733C>G BARD1:c.364+23009C>G RAD50:c.756+7del XRCC2:c.271C>T XRCC2:c.271C>T (p.Arg91Trp) ATM:c.4724G>A (p.Arg1575His) ATM:c.6551G>C (p.Ser2184Thr) ATM:c.641-12328C>G ATM:c.*39-12328C>G CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A BARD1:c.1586G>A BARD1:c.1586G>A (p.Arg529Gln) BARD1:c.1529G>A (p.Arg510Gln) BARD1:c.233G>A (p.Arg78Gln) BARD1:c.176G>A (p.Arg59Gln) BARD1:c.365-22030G>A BARD1:c.1491A>G BARD1:c.1491A>G (p.Pro497=) BARD1:c.1434A>G (p.Pro478=) BARD1:c.159-15004A>G BARD1:c.216-15004A>G BARD1:c.364+24738A>G BARD1:c.632T>C BARD1:c.632T>C (p.Leu211Ser) BARD1:c.575T>C (p.Leu192Ser) BARD1:c.158+28170T>C BARD1:c.215+15819T>C BARD1:c.364+11055T>C BARD1:c.73G>C BARD1:c.73G>C (p.Ala25Pro) RAD50:c.785T>G RAD50:c.785T>G (p.Leu262Arg) RAD50:c.2047G>A (p.Val683Ile) RAD50:c.2047G>A NBN:c.808_809del NBN:c.562_563del (p.Val188fs) NBN:c.808_809del (p.Val270fs) ATM:c.7004C>T (p.Thr2335Ile) ATM:c.641-18602G>A ATM:c.*38+7547G>A ATM:c.8741T>C (p.Ile2914Thr) ATM:c.640+32085A>G ATM:c.695-18543A>G CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.474A>G CHEK2:c.603A>G (p.Ala201=) CHEK2:c.-304A>G CHEK2:c.474A>G (p.Ala158=) CHEK2:c.444+148A>G ATM:c.3295G>A (p.Asp1099Asn) BARD1:c.57G>C BARD1:c.57G>C (p.Glu19Asp) RAD50:c.3260A>G RAD50:c.3260A>G (p.His1087Arg) ATM:c.8773G>A (p.Gly2925Ser) ATM:c.640+32053C>T ATM:c.695-18575C>T CHEK2:c.847-10C>G CHEK2:c.646-10C>G CHEK2:c.184-10C>G CHEK2:c.976-10C>G ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T BARD1:c.1977A>G BARD1:c.1977A>G (p.Arg659=) BARD1:c.1920A>G (p.Arg640=) BARD1:c.624A>G (p.Arg208=) BARD1:c.567A>G (p.Arg189=) BARD1:c.438A>G (p.Arg146=) RAD50:c.3165-4A>T BARD1:c.690C>G BARD1:c.690C>G (p.Asp230Glu) BARD1:c.633C>G (p.Asp211Glu) BARD1:c.158+28228C>G BARD1:c.215+15877C>G BARD1:c.364+11113C>G RINT1:c.360-191A>G RINT1:c.384-191A>G RINT1:c.384-23A>G RINT1:c.1942T>C (p.Tyr648His) RINT1:c.1153T>C (p.Tyr385His) RINT1:c.1252T>C (p.Tyr418His) RINT1:c.2176T>C (p.Tyr726His) RINT1:c.2176T>C RINT1:c.*95C>T RINT1:c.*197C>T RINT1:c.*50C>T RINT1:c.1962G>A RINT1:c.1728G>A (p.Thr576=) RINT1:c.939G>A (p.Thr313=) RINT1:c.1038G>A (p.Thr346=) RINT1:c.1962G>A (p.Thr654=) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T BARD1:c.609A>C BARD1:c.609A>C (p.Gly203=) BARD1:c.552A>C (p.Gly184=) BARD1:c.158+28147A>C BARD1:c.215+15796A>C BARD1:c.364+11032A>C BARD1:c.1738G>A BARD1:c.1738G>A (p.Glu580Lys) BARD1:c.365-15286G>A BARD1:c.1681G>A (p.Glu561Lys) BARD1:c.385G>A (p.Glu129Lys) BARD1:c.328G>A (p.Glu110Lys) BARD1:c.2212A>G BARD1:c.2212A>G (p.Ile738Val) BARD1:c.2155A>G (p.Ile719Val) BARD1:c.859A>G (p.Ile287Val) BARD1:c.802A>G (p.Ile268Val) BARD1:c.673A>G (p.Ile225Val) BARD1:c.2279C>T BARD1:c.2279C>T (p.Ser760Leu) BARD1:c.2222C>T (p.Ser741Leu) BARD1:c.926C>T (p.Ser309Leu) BARD1:c.869C>T (p.Ser290Leu) BARD1:c.740C>T (p.Ser247Leu) RAD50:c.3278G>A RAD50:c.3278G>A (p.Arg1093Gln) NBN:c.1263T>G (p.Asn421Lys) NBN:c.1509T>G (p.Asn503Lys) RAD50:c.1456C>T RAD50:c.1456C>T (p.Arg486Cys) ATM:c.7999A>G (p.Met2667Val) ATM:c.641-24886T>C ATM:c.*38+1263T>C MRE11:c.1504C>T (p.Arg502Cys) RAD50:c.2837A>T (p.Asp946Val) RAD50:c.2837A>T RAD50:c.2173C>T RAD50:c.2173C>T (p.Arg725Trp) RAD50:c.3496C>T RAD50:c.3496C>T (p.Arg1166Trp) MRE11:c.826C>T (p.Pro276Ser) RAD50:c.2091C>T (p.Val697=) RAD50:c.2091C>T MRE11:c.1238A>G (p.Asn413Ser) RINT1:c.360-1846C>T RINT1:c.383+174C>T RINT1:c.*161C>T RINT1:c.2361G>A RINT1:c.2127G>A (p.Trp709Ter) RINT1:c.1338G>A (p.Trp446Ter) RINT1:c.1437G>A (p.Trp479Ter) RINT1:c.2361G>A (p.Trp787Ter) BARD1:c.90T>A BARD1:c.90T>A (p.Gly30=) ATM:c.7174C>T (p.Arg2392Trp) ATM:c.641-20034G>A ATM:c.*38+6115G>A RINT1:c.447T>C (p.His149=) RINT1:c.360-105T>C RINT1:c.384-105T>C RINT1:c.1856A>G (p.Asn619Ser) RINT1:c.1067A>G (p.Asn356Ser) RINT1:c.1166A>G (p.Asn389Ser) RINT1:c.2090A>G (p.Asn697Ser) RINT1:c.2090A>G ATM:c.5267C>G (p.Thr1756Arg) NBN:c.426T>C (p.Asn142=) NBN:c.180T>C (p.Asn60=) RAD50:c.885+5G>A BARD1:c.1955A>G BARD1:c.1955A>G (p.Glu652Gly) BARD1:c.1898A>G (p.Glu633Gly) BARD1:c.602A>G (p.Glu201Gly) BARD1:c.545A>G (p.Glu182Gly) BARD1:c.416A>G (p.Glu139Gly) CHEK2:c.381A>G CHEK2:c.510A>G (p.Glu170=) CHEK2:c.-397A>G CHEK2:c.381A>G (p.Glu127=) MRE11:c.37T>C (p.Phe13Leu) BARD1:c.57G>T BARD1:c.57G>T (p.Glu19Asp) CHEK2:c.793-17T>C CHEK2:c.592-17T>C CHEK2:c.130-17T>C CHEK2:c.922-17T>C BARD1:c.1429G>A BARD1:c.1429G>A (p.Val477Met) BARD1:c.1372G>A (p.Val458Met) BARD1:c.159-15066G>A BARD1:c.216-15066G>A BARD1:c.364+24676G>A MRE11:c.19C>G (p.Leu7Val) RINT1:c.360-143G>A RINT1:c.384-143G>A RINT1:c.409G>A (p.Glu137Lys) RINT1:c.2128C>T RINT1:c.1894C>T (p.Arg632Trp) RINT1:c.1105C>T (p.Arg369Trp) RINT1:c.1204C>T (p.Arg402Trp) RINT1:c.2128C>T (p.Arg710Trp) MRE11:c.39T>A (p.Phe13Leu) MRE11:c.39T>A RINT1:c.*108G>A RINT1:c.*210G>A RINT1:c.*63G>A RINT1:c.1715C>T (p.Pro572Leu) RINT1:c.926C>T (p.Pro309Leu) RINT1:c.1025C>T (p.Pro342Leu) RINT1:c.1949C>T (p.Pro650Leu) RINT1:c.1949C>T CHEK2:c.575C>T CHEK2:c.704C>T (p.Ser235Leu) CHEK2:c.-203C>T CHEK2:c.575C>T (p.Ser192Leu) CHEK2:c.445-71C>T RINT1:c.1449G>T RINT1:c.1215G>T (p.Met405Ile) RINT1:c.426G>T (p.Met142Ile) RINT1:c.525G>T (p.Met175Ile) RINT1:c.1449G>T (p.Met483Ile) MRE11:c.463C>T (p.Arg155Cys) BARD1:c.1613G>A BARD1:c.1613G>A (p.Ser538Asn) BARD1:c.1556G>A (p.Ser519Asn) BARD1:c.260G>A (p.Ser87Asn) BARD1:c.203G>A (p.Ser68Asn) BARD1:c.365-22003G>A | Multigene testing of moderate-risk genes: be mindful of the missense. Journal of medical genetics:2016 | ||||
RAD51C gene PTEN gene NBN gene BRIP1 gene BRCA2 gene BRCA1 gene BARD1 gene ATM gene APC gene CHEK2 gene PMS2 gene MSH6 gene MLH1 gene | Endometrial Carcinoma lynch syndrome hereditary endometrial carcinoma | 35 | NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) BRCA2:c.7598C>G (p.Ser2533Cys) APC:c.1658C>T (p.Ser553Phe) APC:c.1634C>T (p.Ser545Phe) APC:c.1529C>T (p.Ser510Phe) APC:c.1520C>T (p.Ser507Phe) APC:c.1481C>T (p.Ser494Phe) APC:c.1427C>T (p.Ser476Phe) APC:c.1331C>T (p.Ser444Phe) APC:c.1301C>T (p.Ser434Phe) APC:c.1226C>T (p.Ser409Phe) APC:c.1124C>T (p.Ser375Phe) APC:c.755C>T (p.Ser252Phe) APC:c.1661T>C (p.Ile554Thr) APC:c.1556T>C (p.Ile519Thr) APC:c.1547T>C (p.Ile516Thr) APC:c.1508T>C (p.Ile503Thr) APC:c.1454T>C (p.Ile485Thr) APC:c.1358T>C (p.Ile453Thr) APC:c.1328T>C (p.Ile443Thr) APC:c.1253T>C (p.Ile418Thr) APC:c.1151T>C (p.Ile384Thr) APC:c.782T>C (p.Ile261Thr) APC:c.1631T>C MUTYH:c.1192C>T (p.Arg398Cys) MUTYH:c.1276C>T (p.Arg426Cys) MUTYH:c.1237C>T (p.Arg413Cys) MUTYH:c.1225C>T (p.Arg409Cys) MUTYH:c.916C>T (p.Arg306Cys) MUTYH:c.847C>T (p.Arg283Cys) MUTYH:c.1267C>T (p.Arg423Cys) MUTYH:c.11C>T (p.Pro4Leu) MUTYH:c.53C>T (p.Pro18Leu) MUTYH:c.-202C>T MUTYH:c.-261C>T MUTYH:c.-197C>T MUTYH:c.32G>A (p.Gly11Asp) MUTYH:c.74G>A (p.Gly25Asp) MUTYH:c.-181G>A MUTYH:c.-240G>A MUTYH:c.-176G>A MUTYH:c.737G>A (p.Arg246Gln) MUTYH:c.821G>A (p.Arg274Gln) MUTYH:c.782G>A (p.Arg261Gln) MUTYH:c.770G>A (p.Arg257Gln) MUTYH:c.461G>A (p.Arg154Gln) MUTYH:c.392G>A (p.Arg131Gln) MUTYH:c.812G>A (p.Arg271Gln) MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G SMAD4:c.1573A>G (p.Ile525Val) APC:c.6927A>T (p.Gln2309His) APC:c.6903A>T (p.Gln2301His) APC:c.6798A>T (p.Gln2266His) APC:c.6789A>T (p.Gln2263His) APC:c.6750A>T (p.Gln2250His) APC:c.6696A>T (p.Gln2232His) APC:c.6600A>T (p.Gln2200His) APC:c.6570A>T (p.Gln2190His) APC:c.6495A>T (p.Gln2165His) APC:c.6393A>T (p.Gln2131His) APC:c.6024A>T (p.Gln2008His) MSH6:c.3724_3726del (p.Arg1242del) MSH6:c.3334_3336del (p.Arg1112del) MSH6:c.2818_2820del (p.Arg940del) MLH1:c.-194_-193delinsTG MLH1:c.-953_-952delinsTG MLH1:c.-1066_-1065delinsTG MLH1:c.-975_-974delinsTG MLH1:c.-736_-735delinsTG MLH1:c.-634_-633delinsTG MLH1:c.-731_-730delinsTG MLH1:c.-963_-962delinsTG MLH1:c.91_92delinsTG (p.Ala31Cys) ATM:c.334G>A (p.Ala112Thr) ATM:c.4362A>C (p.Lys1454Asn) ATM:c.6176C>T (p.Thr2059Ile) ATM:c.641-7020G>A ATM:c.*39-7020G>A ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C BARD1:c.1690C>T BARD1:c.1690C>T (p.Gln564Ter) BARD1:c.1633C>T (p.Gln545Ter) BARD1:c.337C>T (p.Gln113Ter) BARD1:c.280C>T (p.Gln94Ter) BARD1:c.365-15334C>T BARD1:c.2116A>G BARD1:c.2116A>G (p.Lys706Glu) BARD1:c.2059A>G (p.Lys687Glu) BARD1:c.763A>G (p.Lys255Glu) BARD1:c.706A>G (p.Lys236Glu) BARD1:c.577A>G (p.Lys193Glu) BARD1:c.33G>T BARD1:c.33G>T (p.Gln11His) BARD1:c.668A>G BARD1:c.668A>G (p.Glu223Gly) BARD1:c.611A>G (p.Glu204Gly) BARD1:c.158+28206A>G BARD1:c.215+15855A>G BARD1:c.364+11091A>G PMS2:c.1085G>A (p.Gly362Asp) PMS2:c.1334G>A (p.Gly445Asp) PMS2:c.1172G>A (p.Gly391Asp) PMS2:c.929G>A (p.Gly310Asp) PMS2:c.557G>A (p.Gly186Asp) PMS2:c.917G>A (p.Gly306Asp) PMS2:c.1490G>A (p.Gly497Asp) PMS2:c.1181G>A (p.Gly394Asp) TP53:c.173C>G (p.Pro58Arg) TP53:c.56C>G (p.Pro19Arg) TP53:c.173C>G NBN:c.1034G>T (p.Gly345Val) NBN:c.788G>T (p.Gly263Val) NBN:c.1036G>A (p.Val346Met) NBN:c.790G>A (p.Val264Met) CDH1:c.1409C>T CDH1:c.1226C>T (p.Thr409Ile) CDH1:c.-140C>T CDH1:c.-411C>T CDH1:c.1409C>T (p.Thr470Ile) CDH1:c.2343A>T CDH1:c.2160A>T (p.Glu720Asp) CDH1:c.795A>T (p.Glu265Asp) CDH1:c.378A>T (p.Glu126Asp) CDH1:c.2343A>T (p.Glu781Asp) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T RAD51C:c.506T>C RAD51C:c.506T>C (p.Val169Ala) RAD51C:c.790G>A RAD51C:c.*14750G>A RAD51C:c.790G>A (p.Gly264Ser) RAD51C:c.*218G>A ATM:c.8734A>G (p.Arg2912Gly) ATM:c.640+32092T>C ATM:c.695-18536T>C MSH6:c.1730G>A (p.Arg577His) MSH6:c.1340G>A (p.Arg447His) MSH6:c.824G>A (p.Arg275His) PMS2:c.497T>C (p.Leu166Pro) PMS2:c.179T>C (p.Leu60Pro) PMS2:c.92T>C (p.Leu31Pro) PMS2:c.-388T>C PMS2:c.497T>C MSH2:c.2576_2584delAATCGCAAG MSH2:c.2576_2584del (p.Glu859_Gln861del) MSH2:c.2378_2386del (p.Glu793_Gln795del) MUTYH:c.397G>C (p.Asp133His) MUTYH:c.481G>C (p.Asp161His) MUTYH:c.442G>C (p.Asp148His) MUTYH:c.430G>C (p.Asp144His) MUTYH:c.121G>C (p.Asp41His) MUTYH:c.52G>C (p.Asp18His) MUTYH:c.472G>C (p.Asp158His) APC:c.6354TGC[5] (p.Ala2122dup) APC:c.5874TGC[5] (p.Ala1962dup) APC:c.6300TGC[5] (p.Ala2104dup) APC:c.5505TGC[5] (p.Ala1839dup) APC:c.6408TGC[5] (p.Ala2140dup) APC:c.6384TGC[5] (p.Ala2132dup) APC:c.6279TGC[5] (p.Ala2097dup) APC:c.6270TGC[5] (p.Ala2094dup) APC:c.6231TGC[5] (p.Ala2081dup) APC:c.6363_6365dupTGC PMS2:c.1663A>C (p.Lys555Gln) PMS2:c.1912A>C (p.Lys638Gln) PMS2:c.1750A>C (p.Lys584Gln) PMS2:c.1507A>C (p.Lys503Gln) PMS2:c.1135A>C (p.Lys379Gln) PMS2:c.1495A>C (p.Lys499Gln) PMS2:c.2068A>C (p.Lys690Gln) PMS2:c.1759A>C (p.Lys587Gln) BARD1:c.1409A>G BARD1:c.1409A>G (p.Asn470Ser) BARD1:c.1352A>G (p.Asn451Ser) BARD1:c.159-15086A>G BARD1:c.216-15086A>G BARD1:c.364+24656A>G PALB2:c.3449T>G (p.Leu1150Arg) NBN:c.1354A>C (p.Thr452Pro) NBN:c.1108A>C (p.Thr370Pro) PTEN:c.210-12_210-8delCTTTT PTEN:c.730-7_730-3del PTEN:c.210-7_210-3del PTEN:c.-541-7_-541-3del APC:c.7732T>G (p.Ser2578Ala) APC:c.7663T>G (p.Ser2555Ala) APC:c.7786T>G (p.Ser2596Ala) APC:c.7786T>G APC:c.7840T>G (p.Ser2614Ala) APC:c.7609T>G (p.Ser2537Ala) APC:c.7513T>G (p.Ser2505Ala) APC:c.7483T>G (p.Ser2495Ala) APC:c.7408T>G (p.Ser2470Ala) APC:c.7306T>G (p.Ser2436Ala) APC:c.6937T>G (p.Ser2313Ala) CHEK2:c.1489G>A CHEK2:c.1618G>A (p.Asp540Asn) CHEK2:c.826G>A (p.Asp276Asn) CHEK2:c.1288G>A (p.Asp430Asn) CHEK2:c.1489G>A (p.Asp497Asn) CHEK2:c.1402G>A (p.Asp468Asn) ATM:c.7381C>T (p.Arg2461Cys) ATM:c.641-21216G>A ATM:c.*38+4933G>A CDH1:c.2600A>G CDH1:c.2417A>G (p.Asn806Ser) CDH1:c.1052A>G (p.Asn351Ser) CDH1:c.635A>G (p.Asn212Ser) CDH1:c.2600A>G (p.Asn867Ser) MUTYH:c.1012C>T (p.Pro338Ser) MUTYH:c.1096C>T (p.Pro366Ser) MUTYH:c.1057C>T (p.Pro353Ser) MUTYH:c.1045C>T (p.Pro349Ser) MUTYH:c.736C>T (p.Pro246Ser) MUTYH:c.667C>T (p.Pro223Ser) MUTYH:c.1087C>T (p.Pro363Ser) MSH2:c.1530G>C (p.Gln510His) MSH2:c.1332G>C (p.Gln444His) MSH2:c.1530G>C ATM:c.2096A>G (p.Glu699Gly) APC:c.7628G>A (p.Arg2543His) APC:c.7604G>A (p.Arg2535His) APC:c.7499G>A (p.Arg2500His) APC:c.7490G>A (p.Arg2497His) APC:c.7451G>A (p.Arg2484His) APC:c.7397G>A (p.Arg2466His) APC:c.7301G>A (p.Arg2434His) APC:c.7271G>A (p.Arg2424His) APC:c.7196G>A (p.Arg2399His) APC:c.7094G>A (p.Arg2365His) APC:c.6725G>A (p.Arg2242His) PMS2:c.959C>T (p.Ser320Phe) PMS2:c.1208C>T (p.Ser403Phe) PMS2:c.1046C>T (p.Ser349Phe) PMS2:c.803C>T (p.Ser268Phe) PMS2:c.431C>T (p.Ser144Phe) PMS2:c.791C>T (p.Ser264Phe) PMS2:c.1364C>T (p.Ser455Phe) PMS2:c.1055C>T (p.Ser352Phe) PMS2:c.360C>A (p.Tyr120Ter) PMS2:c.765C>A (p.Tyr255Ter) PMS2:c.447C>A (p.Tyr149Ter) PMS2:c.-169C>A PMS2:c.192C>A (p.Tyr64Ter) PMS2:c.456C>A (p.Tyr152Ter) ATM:c.8596C>G (p.Leu2866Val) ATM:c.641-38219G>C ATM:c.695-11998G>C BRIP1:c.3349T>G (p.Ser1117Ala) BRIP1:c.689C>T (p.Ser230Leu) APC:c.3490C>T (p.Arg1164Cys) APC:c.3466C>T (p.Arg1156Cys) APC:c.3361C>T (p.Arg1121Cys) APC:c.3352C>T (p.Arg1118Cys) APC:c.3313C>T (p.Arg1105Cys) APC:c.3259C>T (p.Arg1087Cys) APC:c.3163C>T (p.Arg1055Cys) APC:c.3133C>T (p.Arg1045Cys) APC:c.3058C>T (p.Arg1020Cys) APC:c.2956C>T (p.Arg986Cys) APC:c.2587C>T (p.Arg863Cys) PALB2:c.3103A>G (p.Ile1035Val) APC:c.1168G>A (p.Ala390Thr) APC:c.1159G>A (p.Ala387Thr) APC:c.1066G>A (p.Ala356Thr) APC:c.970G>A (p.Ala324Thr) APC:c.940G>A (p.Ala314Thr) APC:c.865G>A (p.Ala289Thr) APC:c.763G>A (p.Ala255Thr) APC:c.394G>A (p.Ala132Thr) APC:c.1243G>A BARD1:c.17A>G BARD1:c.17A>G (p.Gln6Arg) PALB2:c.149A>C (p.Lys50Thr) MLH1:c.1896+831C>T MLH1:c.1732-3C>T MLH1:c.823-3C>T MLH1:c.1174-3C>T MLH1:c.1798-3C>T MLH1:c.1603-3C>T MSH2:c.160G>A MSH2:c.160G>A (p.Ala54Thr) MSH2:c.-30-9G>A MSH6:c.942C>G (p.Ser314Arg) MSH6:c.552C>G (p.Ser184Arg) MSH6:c.36C>G (p.Ser12Arg) PALB2:c.2815T>G (p.Leu939Val) BRCA1:c.2964T>A (p.Phe988Leu) BRCA1:c.2967T>A (p.Phe989Leu) BRCA1:c.2958T>A (p.Phe986Leu) STK11:c.1211C>T (p.Ser404Phe) BARD1:c.1028C>T BARD1:c.1028C>T (p.Thr343Ile) BARD1:c.971C>T (p.Thr324Ile) BARD1:c.159-28291C>T BARD1:c.215+16215C>T BARD1:c.364+11451C>T NBN:c.1317A>G (p.Ile439Met) NBN:c.1071A>G (p.Ile357Met) RAD51D:c.413A>G (p.Asn138Ser) RAD51D:c.473A>G (p.Asn158Ser) RAD51D:c.145-574A>G CHEK2:c.915A>C CHEK2:c.1044A>C (p.Glu348Asp) CHEK2:c.252A>C (p.Glu84Asp) CHEK2:c.714A>C (p.Glu238Asp) CHEK2:c.915A>C (p.Glu305Asp) MSH6:c.188C>G (p.Ser63Cys) MSH6:c.-549C>G NBN:c.-286del NBN:c.11del (p.Leu4fs) MSH2:c.1709A>G MSH2:c.1709A>G (p.Tyr570Cys) MSH2:c.1511A>G (p.Tyr504Cys) ATM:c.2449G>C (p.Asp817His) CDKN2A:c.400G>C (p.Ala134Pro) CDKN2A:c.247G>C (p.Ala83Pro) CDKN2A:c.*44G>C CDKN2A:c.*323G>C RAD51C:c.*8071C>T RAD51C:c.640C>T RAD51C:c.640C>T (p.Arg214Cys) RAD51C:c.*68C>T STK11:c.375-7G>A BRCA2:c.2014A>G (p.Arg672Gly) RAD51C:c.968T>G RAD51C:c.968T>G (p.Leu323Trp) PALB2:c.557A>T (p.Asn186Ile) PALB2:c.3257G>A (p.Arg1086Gln) MUTYH:c.1484G>A (p.Arg495His) MUTYH:c.1400G>A (p.Arg467His) MUTYH:c.1445G>A (p.Arg482His) MUTYH:c.1433G>A (p.Arg478His) MUTYH:c.1124G>A (p.Arg375His) MUTYH:c.1055G>A (p.Arg352His) MUTYH:c.1475G>A (p.Arg492His) PMS2:c.578A>G (p.Asp193Gly) PMS2:c.983A>G (p.Asp328Gly) PMS2:c.665A>G (p.Asp222Gly) PMS2:c.50A>G (p.Asp17Gly) PMS2:c.410A>G (p.Asp137Gly) PMS2:c.674A>G (p.Asp225Gly) MUTYH:c.1006C>T (p.Arg336Cys) MUTYH:c.1090C>T (p.Arg364Cys) MUTYH:c.1051C>T (p.Arg351Cys) MUTYH:c.1039C>T (p.Arg347Cys) MUTYH:c.730C>T (p.Arg244Cys) MUTYH:c.661C>T (p.Arg221Cys) MUTYH:c.1081C>T (p.Arg361Cys) BARD1:c.1360C>G BARD1:c.1360C>G (p.Pro454Ala) BARD1:c.1303C>G (p.Pro435Ala) BARD1:c.159-16712C>G BARD1:c.216-16712C>G BARD1:c.364+23030C>G ATM:c.76G>C (p.Glu26Gln) PMS2:c.762A>G (p.Ile254Met) PMS2:c.675A>G (p.Ile225Met) PMS2:c.147A>G (p.Ile49Met) PMS2:c.507A>G (p.Ile169Met) PMS2:c.1080A>G (p.Ile360Met) PMS2:c.771A>G (p.Ile257Met) PMS2:c.583+2109A>G PMS2:c.988+2109A>G PMS2:c.1080A>G PMS2:c.917T>C (p.Val306Ala) PMS2:c.599T>C (p.Val200Ala) PMS2:c.512T>C (p.Val171Ala) PMS2:c.-17T>C PMS2:c.344T>C (p.Val115Ala) PMS2:c.608T>C (p.Val203Ala) PMS2:c.917T>C ATM:c.4702C>T (p.His1568Tyr) BRIP1:c.2114_2118del (p.Lys705fs) BRIP1:c.2662C>T (p.His888Tyr) MSH6:c.1403G>C (p.Arg468Pro) MSH6:c.1013G>C (p.Arg338Pro) MSH6:c.497G>C (p.Arg166Pro) MSH6:c.2032G>C (p.Glu678Gln) MSH6:c.1642G>C (p.Glu548Gln) MSH6:c.1126G>C (p.Glu376Gln) MSH6:c.1525G>C (p.Val509Leu) MSH6:c.1135G>C (p.Val379Leu) MSH6:c.619G>C (p.Val207Leu) RAD51D:c.407A>G (p.Asp136Gly) RAD51D:c.467A>G (p.Asp156Gly) RAD51D:c.145-580A>G MSH6:c.1350_1351del (p.Phe451fs) MSH6:c.960_961del (p.Phe321fs) MSH6:c.444_445del (p.Phe149fs) MSH2:c.2267C>G MSH2:c.2267C>G (p.Thr756Ser) MSH2:c.2069C>G (p.Thr690Ser) NBN:c.1255A>C (p.Asn419His) NBN:c.1009A>C (p.Asn337His) RAD51C:c.899C>T RAD51C:c.899C>T (p.Ala300Val) PMS2:c.-8C>T PMS2:c.398C>T (p.Thr133Ile) PMS2:c.80C>T (p.Thr27Ile) PMS2:c.-487C>T PMS2:c.89C>T (p.Thr30Ile) BRCA2:c.3800A>G (p.Asp1267Gly) BRCA1:c.1499_1500delGCinsAA (p.Ser500Lys) BRCA1:c.1496_1497delGCinsAA (p.Ser499Lys) BRIP1:c.2806G>A (p.Glu936Lys) | Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc:2016 | ||||
NBN gene FANCM gene BRCA1 gene BARD1 gene MSH6 gene CHEK2 gene BRCA2 gene ATM gene | Pancreatic carcinoma Endometrial Carcinoma Pancreatic Ductal Adenocarcinoma | 96 | ATM:c.7327C>T (p.Arg2443Ter) ATM:c.641-21162G>A ATM:c.*38+4987G>A RAD50:c.1663A>G RAD50:c.1663A>G (p.Ile555Val) RAD50:c.980G>A RAD50:c.980G>A (p.Arg327His) BRCA2:c.2803G>C (p.Asp935His) BRCA2:c.6373dup (p.Thr2125fs) BRCA2:c.865A>G (p.Asn289Asp) CDKN2A:c.373G>C (p.Asp125His) CDKN2A:c.220G>C (p.Asp74His) CDKN2A:c.*17G>C CDKN2A:c.*296G>C PMS2:c.1283G>T (p.Arg428Leu) PMS2:c.1532G>T (p.Arg511Leu) PMS2:c.1370G>T (p.Arg457Leu) PMS2:c.1127G>T (p.Arg376Leu) PMS2:c.755G>T (p.Arg252Leu) PMS2:c.1115G>T (p.Arg372Leu) PMS2:c.1688G>T (p.Arg563Leu) PMS2:c.1379G>T (p.Arg460Leu) PMS2:c.-164A>G PMS2:c.-354A>G PMS2:c.-833A>G PMS2:c.52A>G (p.Ile18Val) PMS2:c.-433A>G PMS2:c.-52-1945A>G PMS2:c.-242-1945A>G PMS2:c.52A>G BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.2680G>A (p.Val894Ile) BRCA2:c.7090G>A (p.Glu2364Lys) MSH6:c.1508C>G (p.Ser503Cys) MSH6:c.1118C>G (p.Ser373Cys) MSH6:c.602C>G (p.Ser201Cys) MSH6:c.1508C>G MSH6:c.3037AAG[1] (p.Lys1014del) MSH6:c.2647AAG[1] (p.Lys884del) MSH6:c.2131AAG[1] (p.Lys712del) MSH6:c.3259C>T (p.Pro1087Ser) MSH6:c.2869C>T (p.Pro957Ser) MSH6:c.2353C>T (p.Pro785Ser) MSH6:c.3804dup (p.Cys1269fs) MSH6:c.3414dup (p.Cys1139fs) MSH6:c.2898dup (p.Cys967fs) PMS2:c.1990C>T (p.Arg664Trp) PMS2:c.2239C>T (p.Arg747Trp) PMS2:c.2077C>T (p.Arg693Trp) PMS2:c.2023C>T (p.Arg675Trp) PMS2:c.1834C>T (p.Arg612Trp) PMS2:c.1462C>T (p.Arg488Trp) PMS2:c.1822C>T (p.Arg608Trp) PMS2:c.2428C>T (p.Arg810Trp) PMS2:c.2086C>T (p.Arg696Trp) PALB2:c.1001A>G (p.Tyr334Cys) MRE11:c.1475C>A (p.Ala492Asp) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A PMS2:c.1607C>T (p.Thr536Met) PMS2:c.1856C>T (p.Thr619Met) PMS2:c.1694C>T (p.Thr565Met) PMS2:c.1451C>T (p.Thr484Met) PMS2:c.1079C>T (p.Thr360Met) PMS2:c.1439C>T (p.Thr480Met) PMS2:c.2012C>T (p.Thr671Met) PMS2:c.1703C>T (p.Thr568Met) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A RAD50:c.280A>C RAD50:c.280A>C (p.Ile94Leu) RAD50:c.671G>A (p.Arg224His) RAD50:c.671G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T BRIP1:c.790C>T (p.Arg264Trp) RAD51C:c.790G>A RAD51C:c.*14750G>A RAD51C:c.790G>A (p.Gly264Ser) RAD51C:c.*218G>A RAD51C:c.859A>G RAD51C:c.859A>G (p.Thr287Ala) MSH2:c.2615A>G MSH2:c.2615A>G (p.Lys872Arg) MSH2:c.2417A>G (p.Lys806Arg) BARD1:c.1921C>T BARD1:c.1921C>T (p.Arg641Ter) BARD1:c.1864C>T (p.Arg622Ter) BARD1:c.568C>T (p.Arg190Ter) BARD1:c.511C>T (p.Arg171Ter) BARD1:c.382C>T (p.Arg128Ter) CDH1:c.2572G>C CDH1:c.2389G>C (p.Asp797His) CDH1:c.1024G>C (p.Asp342His) CDH1:c.607G>C (p.Asp203His) CDH1:c.2572G>C (p.Asp858His) PALB2:c.1189A>T (p.Thr397Ser) PMS2:c.1087G>A (p.Val363Met) PMS2:c.925G>A (p.Val309Met) PMS2:c.838G>A (p.Val280Met) PMS2:c.682G>A (p.Val228Met) PMS2:c.310G>A (p.Val104Met) PMS2:c.670G>A (p.Val224Met) PMS2:c.1243G>A (p.Val415Met) PMS2:c.934G>A (p.Val312Met) PMS2:c.1243G>A ATM:c.2880del (p.Leu961fs) PALB2:c.100C>T (p.Arg34Cys) PMS2:c.2026A>G (p.Thr676Ala) PMS2:c.1864A>G (p.Thr622Ala) PMS2:c.1777A>G (p.Thr593Ala) PMS2:c.1621A>G (p.Thr541Ala) PMS2:c.1249A>G (p.Thr417Ala) PMS2:c.1609A>G (p.Thr537Ala) PMS2:c.2182A>G (p.Thr728Ala) PMS2:c.1873A>G (p.Thr625Ala) PMS2:c.2182A>G FANCM:c.2586_2589delAAAA FANCM:c.2508_2511del (p.Lys837fs) FANCM:c.2586_2589del (p.Lys863fs) BARD1:c.1685C>T (p.Thr562Ile) BARD1:c.1628C>T (p.Thr543Ile) BARD1:c.332C>T (p.Thr111Ile) BARD1:c.275C>T (p.Thr92Ile) BARD1:c.365-15339C>T BARD1:c.1685C>T ATM:c.6013C>A (p.Leu2005Ile) ATM:c.641-6758G>T ATM:c.*39-6758G>T MSH2:c.905T>C MSH2:c.905T>C (p.Leu302Ser) MSH2:c.707T>C (p.Leu236Ser) CDKN2A:c.272T>A (p.Leu91Gln) CDKN2A:c.315T>A (p.Pro105=) CDKN2A:c.119T>A (p.Leu40Gln) CDKN2A:c.*195T>A MLH1:c.1538T>C (p.Ile513Thr) MLH1:c.809T>C (p.Ile270Thr) MLH1:c.758T>C (p.Ile253Thr) MLH1:c.1832T>C (p.Ile611Thr) MLH1:c.1733T>C (p.Ile578Thr) MLH1:c.1732-898T>C | Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2016 | ||||
PALB2 gene ATM gene CHEK2 gene | hboc cancer hereditary breast and ovarian cancer | 583 | PMS2:c.1781_1782del (p.Leu594fs) PMS2:c.2030_2031del (p.Leu677fs) PMS2:c.1868_1869del (p.Leu623fs) PMS2:c.1625_1626del (p.Leu542fs) PMS2:c.1253_1254del (p.Leu418fs) PMS2:c.1613_1614del (p.Leu538fs) PMS2:c.2186_2187del (p.Leu729fs) PMS2:c.1877_1878del (p.Leu626fs) PALB2:c.2835-1G>C CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A ATM:c.4396C>T (p.Arg1466Ter) PALB2:c.1671_1674del PALB2:c.1671_1674del (p.Ile558fs) BRIP1:c.128_131del BRIP1:c.128_131del (p.Leu43fs) ATM:c.7517_7520del ATM:c.7517_7520delGAGA ATM:c.*1389_*1390TC[1] ATM:c.641-22374_641-22371del ATM:c.*38+3775_*38+3778del | nucleaotide-sequencing | The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families? Oncotarget:2017 | |||
MUTYH gene APC gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene | Colorectal Carcinoma colorectal cancer type x hereditary colorectal cancer | 1231 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) MLH1:c.382C>T (p.Arg128Ter) MLH1:c.-141C>T MLH1:c.-254C>T MLH1:c.-151C>T MLH1:c.676C>T (p.Arg226Ter) MLH1:c.577C>T (p.Arg193Ter) MUTYH:c.1192C>T (p.Arg398Cys) MUTYH:c.1276C>T (p.Arg426Cys) MUTYH:c.1237C>T (p.Arg413Cys) MUTYH:c.1225C>T (p.Arg409Cys) MUTYH:c.916C>T (p.Arg306Cys) MUTYH:c.847C>T (p.Arg283Cys) MUTYH:c.1267C>T (p.Arg423Cys) MUTYH:c.1336C>T (p.Arg446Cys) MUTYH:c.1420C>T (p.Arg474Cys) MUTYH:c.1381C>T (p.Arg461Cys) MUTYH:c.1369C>T (p.Arg457Cys) MUTYH:c.1060C>T (p.Arg354Cys) MUTYH:c.991C>T (p.Arg331Cys) MUTYH:c.1411C>T (p.Arg471Cys) MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G MSH6:c.2057G>A (p.Gly686Asp) MSH6:c.1667G>A (p.Gly556Asp) MSH6:c.1151G>A (p.Gly384Asp) MSH6:c.2150_2153del (p.Val717fs) MSH6:c.1760_1763del (p.Val587fs) MSH6:c.1244_1247del (p.Val415fs) MSH6:c.2931C>G (p.Tyr977Ter) MSH6:c.2541C>G (p.Tyr847Ter) MSH6:c.2025C>G (p.Tyr675Ter) MSH6:c.3013C>T (p.Arg1005Ter) MSH6:c.2623C>T (p.Arg875Ter) MSH6:c.2107C>T (p.Arg703Ter) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MSH6:c.467C>G (p.Ser156Ter) MSH6:c.-436C>G MSH6:c.-279-2708C>G MSH6:c.238-2708C>G MSH6:c.718C>T (p.Arg240Ter) MSH6:c.328C>T (p.Arg110Ter) MSH6:c.-189C>T MSH6:c.884A>G (p.Lys295Arg) MSH6:c.494A>G (p.Lys165Arg) MSH6:c.-23A>G MLH1:c.982C>T (p.Gln328Ter) MLH1:c.253C>T (p.Gln85Ter) MLH1:c.202C>T (p.Gln68Ter) MLH1:c.1276C>T (p.Gln426Ter) MLH1:c.1177C>T (p.Gln393Ter) MLH1:c.935T>G (p.Leu312Arg) MLH1:c.884T>G (p.Leu295Arg) MLH1:c.1859T>G (p.Leu620Arg) MLH1:c.1793T>G (p.Leu598Arg) MLH1:c.1897-326T>G MLH1:c.1896+895T>G MLH1:c.1958T>G (p.Leu653Arg) MLH1:c.381-2A>G MLH1:c.-446-2A>G MLH1:c.-251-2A>G MLH1:c.282-2A>G MLH1:c.-343-2A>G MLH1:c.87-2A>G MLH1:c.-354-2A>G MLH1:c.-282G>A MLH1:c.-1041G>A MLH1:c.-1154G>A MLH1:c.-1063G>A MLH1:c.-824G>A MLH1:c.-722G>A MLH1:c.-819G>A MLH1:c.-1051G>A MLH1:c.3G>A (p.Met1Ile) MLH1:c.589-2A>G MLH1:c.-238-2A>G MLH1:c.-135-2A>G MLH1:c.490-2A>G MLH1:c.295-2A>G MSH2:c.1759+1G>A MSH2:c.1561+1G>A MSH2:c.1861C>T MSH2:c.1861C>T (p.Arg621Ter) MSH2:c.1663C>T (p.Arg555Ter) MSH2:c.1A>C (p.Met1Leu) MSH2:c.-31+17A>C MSH2:c.1A>C MSH2:c.2131C>T MSH2:c.2131C>T (p.Arg711Ter) MSH2:c.1933C>T (p.Arg645Ter) MSH2:c.279_281del MSH2:c.273TCT[2] (p.Leu94del) MSH2:c.75TCT[2] (p.Leu28del) PALB2:c.3428T>A (p.Leu1143His) BLM:c.191A>T BLM:c.191A>T (p.Asp64Val) BLM:c.-1101A>T BLM:c.3991A>G BLM:c.3991A>G (p.Arg1331Gly) BLM:c.3598A>G (p.Arg1200Gly) BLM:c.2866A>G (p.Arg956Gly) CDKN2A:c.369T>A (p.His123Gln) CDKN2A:c.216T>A (p.His72Gln) CDKN2A:c.*13T>A CDKN2A:c.*292T>A MSH6:c.2419G>A (p.Glu807Lys) MSH6:c.2029G>A (p.Glu677Lys) MSH6:c.1513G>A (p.Glu505Lys) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A AXIN2:c.203G>A AXIN2:c.203G>A (p.Arg68Gln) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CDH1:c.164T>G CDH1:c.164T>G (p.Val55Gly) CDH1:c.-1452T>G CDH1:c.-1656T>G APC:c.5063C>T (p.Ala1688Val) APC:c.5039C>T (p.Ala1680Val) APC:c.4934C>T (p.Ala1645Val) APC:c.4925C>T (p.Ala1642Val) APC:c.4886C>T (p.Ala1629Val) APC:c.4832C>T (p.Ala1611Val) APC:c.4736C>T (p.Ala1579Val) APC:c.4706C>T (p.Ala1569Val) APC:c.4631C>T (p.Ala1544Val) APC:c.4529C>T (p.Ala1510Val) APC:c.4160C>T (p.Ala1387Val) APC:c.7679A>G (p.Asn2560Ser) APC:c.7655A>G (p.Asn2552Ser) APC:c.7550A>G (p.Asn2517Ser) APC:c.7541A>G (p.Asn2514Ser) APC:c.7502A>G (p.Asn2501Ser) APC:c.7448A>G (p.Asn2483Ser) APC:c.7352A>G (p.Asn2451Ser) APC:c.7322A>G (p.Asn2441Ser) APC:c.7247A>G (p.Asn2416Ser) APC:c.7145A>G (p.Asn2382Ser) APC:c.6776A>G (p.Asn2259Ser) APC:c.7963A>G (p.Ile2655Val) APC:c.8212A>G (p.Ile2738Val) APC:c.7888A>G (p.Ile2630Val) APC:c.8266A>G (p.Ile2756Val) APC:c.7786A>G (p.Ile2596Val) APC:c.8320A>G (p.Ile2774Val) APC:c.7417A>G (p.Ile2473Val) APC:c.8296A>G (p.Ile2766Val) APC:c.8266A>G APC:c.8191A>G (p.Ile2731Val) APC:c.8182A>G (p.Ile2728Val) MUTYH:c.229G>A (p.Asp77Asn) MUTYH:c.313G>A (p.Asp105Asn) MUTYH:c.274G>A (p.Asp92Asn) MUTYH:c.262G>A (p.Asp88Asn) MUTYH:c.-48G>A MUTYH:c.-43G>A MUTYH:c.304G>A (p.Asp102Asn) MUTYH:c.616G>A (p.Val206Met) MUTYH:c.700G>A (p.Val234Met) MUTYH:c.661G>A (p.Val221Met) MUTYH:c.649G>A (p.Val217Met) MUTYH:c.340G>A (p.Val114Met) MUTYH:c.271G>A (p.Val91Met) MUTYH:c.691G>A (p.Val231Met) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.1141A>G CHEK2:c.1270A>G (p.Met424Val) CHEK2:c.478A>G (p.Met160Val) CHEK2:c.940A>G (p.Met314Val) CHEK2:c.1141A>G (p.Met381Val) CHEK2:c.1054A>G (p.Met352Val) APC:c.4532C>T (p.Thr1511Met) APC:c.4508C>T (p.Thr1503Met) APC:c.4403C>T (p.Thr1468Met) APC:c.4394C>T (p.Thr1465Met) APC:c.4355C>T (p.Thr1452Met) APC:c.4301C>T (p.Thr1434Met) APC:c.4205C>T (p.Thr1402Met) APC:c.4175C>T (p.Thr1392Met) APC:c.4100C>T (p.Thr1367Met) APC:c.3998C>T (p.Thr1333Met) APC:c.3629C>T (p.Thr1210Met) FLCN:c.634C>T (p.Arg212Trp) FLCN:c.580C>T (p.Arg194Trp) FLCN:c.580C>T CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) SMAD4:c.1245_1248del SMAD4:c.1245_1248del (p.Asp415fs) MSH6:c.650A>G (p.Asp217Gly) MSH6:c.260A>G (p.Asp87Gly) MSH6:c.-257A>G MUTYH:c.1130C>T (p.Pro377Leu) MUTYH:c.1214C>T (p.Pro405Leu) MUTYH:c.1175C>T (p.Pro392Leu) MUTYH:c.1163C>T (p.Pro388Leu) MUTYH:c.854C>T (p.Pro285Leu) MUTYH:c.785C>T (p.Pro262Leu) MUTYH:c.1205C>T (p.Pro402Leu) MUTYH:c.991C>A (p.Pro331Thr) MUTYH:c.1075C>A (p.Pro359Thr) MUTYH:c.1036C>A (p.Pro346Thr) MUTYH:c.1024C>A (p.Pro342Thr) MUTYH:c.715C>A (p.Pro239Thr) MUTYH:c.646C>A (p.Pro216Thr) MUTYH:c.1066C>A (p.Pro356Thr) MSH6:c.1636G>C (p.Glu546Gln) MSH6:c.1246G>C (p.Glu416Gln) MSH6:c.730G>C (p.Glu244Gln) MLH1:c.1039-1G>A MLH1:c.-36-1G>A MLH1:c.316-1G>A MLH1:c.940-1G>A MLH1:c.745-1G>A MSH6:c.2417C>G (p.Ser806Cys) MSH6:c.2027C>G (p.Ser676Cys) MSH6:c.1511C>G (p.Ser504Cys) APC:c.6153C>G (p.Asp2051Glu) APC:c.6129C>G (p.Asp2043Glu) APC:c.6024C>G (p.Asp2008Glu) APC:c.6015C>G (p.Asp2005Glu) APC:c.5976C>G (p.Asp1992Glu) APC:c.5922C>G (p.Asp1974Glu) APC:c.5826C>G (p.Asp1942Glu) APC:c.5796C>G (p.Asp1932Glu) APC:c.5721C>G (p.Asp1907Glu) APC:c.5619C>G (p.Asp1873Glu) APC:c.5250C>G (p.Asp1750Glu) PALB2:c.3404G>A (p.Gly1135Glu) CHEK2:c.482A>G CHEK2:c.611A>G (p.Glu204Gly) CHEK2:c.-296A>G CHEK2:c.482A>G (p.Glu161Gly) CHEK2:c.444+156A>G MUTYH:c.919C>G (p.Pro307Ala) MUTYH:c.640C>G (p.Pro214Ala) MUTYH:c.916C>G (p.Pro306Ala) MUTYH:c.571C>G (p.Pro191Ala) MUTYH:c.1000C>G (p.Pro334Ala) MUTYH:c.991C>G (p.Pro331Ala) MUTYH:c.961C>G (p.Pro321Ala) MUTYH:c.949C>G (p.Pro317Ala) MSH6:c.2079dup (p.Cys694fs) MSH6:c.1689dup (p.Cys564fs) MSH6:c.1173dup (p.Cys392fs) MSH6:c.2230dup (p.Glu744fs) MSH6:c.1840dup (p.Glu614fs) MSH6:c.1324dup (p.Glu442fs) APC:c.8483A>G (p.Asn2828Ser) APC:c.8459A>G (p.Asn2820Ser) APC:c.8354A>G (p.Asn2785Ser) APC:c.8345A>G (p.Asn2782Ser) APC:c.8306A>G (p.Asn2769Ser) APC:c.8252A>G (p.Asn2751Ser) APC:c.8156A>G (p.Asn2719Ser) APC:c.8126A>G (p.Asn2709Ser) APC:c.8051A>G (p.Asn2684Ser) APC:c.7949A>G (p.Asn2650Ser) APC:c.7580A>G (p.Asn2527Ser) PALB2:c.1846G>C (p.Asp616His) PALB2:c.1766C>T (p.Thr589Met) MLH1:c.380+2T>C MLH1:c.-447+2T>C MLH1:c.-252+2T>C MLH1:c.281+2T>C MLH1:c.-344+2T>C MLH1:c.86+2T>C MLH1:c.-355+2T>C MSH2:c.1464-1G>A MSH2:c.1662-1G>A PALB2:c.2360C>T (p.Thr787Ile) MSH2:c.2297delT MSH2:c.2297del (p.Ile766fs) MSH2:c.2099del (p.Ile700fs) MSH6:c.900dup (p.Lys301fs) MSH6:c.510dup (p.Lys171fs) MSH6:c.-7dup MSH2:c.842C>G (p.Ser281Ter) MSH2:c.644C>G (p.Ser215Ter) MSH2:c.842C>G MLH1:c.381-1G>A MLH1:c.-446-1G>A MLH1:c.-251-1G>A MLH1:c.282-1G>A MLH1:c.-343-1G>A MLH1:c.87-1G>A MLH1:c.-354-1G>A GALNT12:c.907G>A (p.Asp303Asn) GALNT12:c.907G>A MSH2:c.2T>G (p.Met1Arg) MSH2:c.2T>G MSH2:c.-31+18T>G MLH1:c.1228_1229del (p.Leu411fs) MLH1:c.499_500del (p.Leu168fs) MLH1:c.448_449del (p.Leu151fs) MLH1:c.1522_1523del (p.Leu509fs) MLH1:c.1423_1424del (p.Leu476fs) STK11:c.31A>G (p.Met11Val) MLH1:c.1358A>G (p.Asn453Ser) MLH1:c.629A>G (p.Asn210Ser) MLH1:c.578A>G (p.Asn193Ser) MLH1:c.1652A>G (p.Asn551Ser) MLH1:c.1553A>G (p.Asn518Ser) PALB2:c.23C>T (p.Pro8Leu) BLM:c.2638G>C BLM:c.2638G>C (p.Glu880Gln) BLM:c.1513G>C (p.Glu505Gln) MSH2:c.1847C>G MSH2:c.1847C>G (p.Pro616Arg) MSH2:c.1649C>G (p.Pro550Arg) AXIN2:c.1168A>G AXIN2:c.1168A>G (p.Ser390Gly) AXIN2:c.623C>T AXIN2:c.623C>T (p.Ala208Val) MSH2:c.1510+2T>C MSH2:c.1312+2T>C APC:c.373A>G (p.Met125Val) APC:c.268A>G (p.Met90Val) APC:c.343A>G (p.Met115Val) APC:c.166A>G (p.Met56Val) APC:c.-693A>G APC:c.343A>G MSH6:c.2862C>G (p.Tyr954Ter) MSH6:c.2472C>G (p.Tyr824Ter) MSH6:c.1956C>G (p.Tyr652Ter) MSH2:c.420dupT MSH2:c.420dup (p.Met141fs) MSH2:c.222dup (p.Met75fs) AXIN2:c.1386_1387delinsTT (p.Arg463Cys) AXIN2:c.1386_1387delCCinsTT STK11:c.44G>A (p.Gly15Asp) MSH6:c.2931C>A (p.Tyr977Ter) MSH6:c.2541C>A (p.Tyr847Ter) MSH6:c.2025C>A (p.Tyr675Ter) MUTYH:c.836G>A (p.Arg279Gln) MUTYH:c.920G>A (p.Arg307Gln) MUTYH:c.881G>A (p.Arg294Gln) MUTYH:c.869G>A (p.Arg290Gln) MUTYH:c.560G>A (p.Arg187Gln) MUTYH:c.491G>A (p.Arg164Gln) MUTYH:c.911G>A (p.Arg304Gln) APC:c.854A>G (p.Asp285Gly) APC:c.884A>G (p.Asp295Gly) APC:c.779A>G (p.Asp260Gly) APC:c.770A>G (p.Asp257Gly) APC:c.677A>G (p.Asp226Gly) APC:c.5A>G (p.Asp2Gly) SMAD4:c.1106A>G (p.Asn369Ser) MLH1:c.629A>C (p.His210Pro) MLH1:c.-101A>C MLH1:c.923A>C (p.His308Pro) MLH1:c.824A>C (p.His275Pro) MLH1:c.-36-5289A>C MSH3:c.3404T>G MSH3:c.3404T>G (p.Leu1135Arg) MSH3:c.1571A>C MSH3:c.1571A>C (p.Asn524Thr) MSH3:c.1469C>A MSH3:c.1469C>A (p.Ser490Tyr) FLCN:c.992C>T FLCN:c.1046C>T (p.Ser349Phe) FLCN:c.992C>T (p.Ser331Phe) MLH1:c.381-2A>T MLH1:c.-446-2A>T MLH1:c.-251-2A>T MLH1:c.282-2A>T MLH1:c.-343-2A>T MLH1:c.87-2A>T MLH1:c.-354-2A>T MSH3:c.1361G>T MSH3:c.1361G>T (p.Arg454Leu) MSH6:c.43C>T (p.Pro15Ser) MSH6:c.-694C>T FLCN:c.1A>G (p.Met1Val) APC:c.2276A>G (p.Asn759Ser) APC:c.2252A>G (p.Asn751Ser) APC:c.2147A>G (p.Asn716Ser) APC:c.2138A>G (p.Asn713Ser) APC:c.2099A>G (p.Asn700Ser) APC:c.2045A>G (p.Asn682Ser) APC:c.1949A>G (p.Asn650Ser) APC:c.1919A>G (p.Asn640Ser) APC:c.1844A>G (p.Asn615Ser) APC:c.1742A>G (p.Asn581Ser) APC:c.1373A>G (p.Asn458Ser) PALB2:c.829G>A (p.Asp277Asn) FLCN:c.1451T>C (p.Val484Ala) FLCN:c.1397T>C (p.Val466Ala) FLCN:c.1397T>C APC:c.5484T>G (p.Asp1828Glu) APC:c.5460T>G (p.Asp1820Glu) APC:c.5355T>G (p.Asp1785Glu) APC:c.5346T>G (p.Asp1782Glu) APC:c.5307T>G (p.Asp1769Glu) APC:c.5253T>G (p.Asp1751Glu) APC:c.5157T>G (p.Asp1719Glu) APC:c.5127T>G (p.Asp1709Glu) APC:c.5052T>G (p.Asp1684Glu) APC:c.4950T>G (p.Asp1650Glu) APC:c.4581T>G (p.Asp1527Glu) MSH2:c.2T>C (p.Met1Thr) MSH2:c.-31+18T>C MSH2:c.2T>C MLH1:c.-1102_-1095del MLH1:c.-1072_-1065del MLH1:c.-633_-626del MLH1:c.-833_-826del MLH1:c.-731_-724del MLH1:c.-828_-821del MLH1:c.-1060_-1053del MLH1:c.-7_1del (p.Met1fs) APC:c.3731A>G (p.Lys1244Arg) APC:c.3707A>G (p.Lys1236Arg) APC:c.3602A>G (p.Lys1201Arg) APC:c.3593A>G (p.Lys1198Arg) APC:c.3554A>G (p.Lys1185Arg) APC:c.3500A>G (p.Lys1167Arg) APC:c.3404A>G (p.Lys1135Arg) APC:c.3374A>G (p.Lys1125Arg) APC:c.3299A>G (p.Lys1100Arg) APC:c.3197A>G (p.Lys1066Arg) APC:c.2828A>G (p.Lys943Arg) MLH3:c.1018A>G (p.Ile340Val) PALB2:c.3232T>A (p.Cys1078Ser) MSH6:c.1384C>A (p.Pro462Thr) MSH6:c.994C>A (p.Pro332Thr) MSH6:c.478C>A (p.Pro160Thr) STK11:c.1258G>T (p.Ala420Ser) SMAD4:c.1217C>T (p.Ala406Val) MSH6:c.1901dup (p.Leu634fs) MSH6:c.1511dup (p.Leu504fs) MSH6:c.995dup (p.Leu332fs) APC:c.1096G>A (p.Asp366Asn) APC:c.1126G>A (p.Asp376Asn) APC:c.1021G>A (p.Asp341Asn) APC:c.1012G>A (p.Asp338Asn) APC:c.919G>A (p.Asp307Asn) APC:c.247G>A (p.Asp83Asn) APC:c.964-141G>A APC:c.859-141G>A APC:c.934-141G>A APC:c.757-141G>A BLM:c.2474C>T BLM:c.2474C>T (p.Pro825Leu) BLM:c.1349C>T (p.Pro450Leu) PALB2:c.2234A>G (p.Lys745Arg) CDH1:c.2602C>A CDH1:c.2419C>A (p.Arg807Ser) CDH1:c.1054C>A (p.Arg352Ser) CDH1:c.637C>A (p.Arg213Ser) CDH1:c.2602C>A (p.Arg868Ser) MSH6:c.3108_3109del (p.Phe1037fs) MSH6:c.2718_2719del (p.Phe907fs) MSH6:c.2202_2203del (p.Phe735fs) BLM:c.715G>C BLM:c.715G>C (p.Asp239His) BLM:c.-577G>C CDKN2A:c.43T>C (p.Cys15Arg) CDKN2A:c.-4+532T>C MSH3:c.316C>G MSH3:c.316C>G (p.Gln106Glu) MSH3:c.2041C>T MSH3:c.2041C>T (p.Pro681Ser) MSH3:c.2281G>T MSH3:c.2281G>T (p.Val761Leu) MSH3:c.2686G>T MSH3:c.2686G>T (p.Gly896Ter) MSH3:c.2069A>G (p.Asn690Ser) MSH3:c.2069A>G MSH3:c.2176A>C MSH3:c.2176A>C (p.Ile726Leu) MSH3:c.3346G>T MSH3:c.3346G>T (p.Ala1116Ser) MLH1:c.1010A>G (p.Lys337Arg) MLH1:c.959A>G (p.Lys320Arg) MLH1:c.1940A>G (p.Lys647Arg) MLH1:c.1934A>G (p.Lys645Arg) MLH1:c.1868A>G (p.Lys623Arg) MLH1:c.1896+1264A>G FLCN:c.1360T>G FLCN:c.1414T>G (p.Cys472Gly) FLCN:c.1360T>G (p.Cys454Gly) MSH3:c.2288G>T MSH3:c.2288G>T (p.Cys763Phe) MSH3:c.2336G>A MSH3:c.2336G>A (p.Arg779His) BLM:c.2843C>A (p.Ala948Glu) BLM:c.1718C>A (p.Ala573Glu) BLM:c.2843C>A BLM:c.4177A>G BLM:c.4177A>G (p.Asn1393Asp) BLM:c.3784A>G (p.Asn1262Asp) BLM:c.3052A>G (p.Asn1018Asp) SMAD4:c.457C>T (p.Pro153Ser) MSH3:c.3184G>A MSH3:c.3184G>A (p.Gly1062Arg) MSH3:c.2005C>T MSH3:c.2005C>T (p.Arg669Trp) MSH3:c.2480A>G MSH3:c.2480A>G (p.His827Arg) MSH2:c.1808-7_1824del MSH2:c.2006-7_2022del MSH6:c.1729delC MSH6:c.1729del (p.Arg577fs) MSH6:c.1339del (p.Arg447fs) MSH6:c.823del (p.Arg275fs) CDKN2A:c.379G>T (p.Ala127Ser) CDKN2A:c.226G>T (p.Ala76Ser) CDKN2A:c.*23G>T CDKN2A:c.*302G>T CDKN2A:c.379G>T MSH3:c.2732T>G MSH3:c.2732T>G (p.Leu911Trp) | nonsense mutation splice site mutation premature stop missense mutation | Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Molecular genetics & genomic medicine:2017 | |||
PALB2 gene CHEK2 gene BRCA2 gene | Breast Carcinoma Carcinoma of Male Breast genetic | 715 | c.1100delC | PALB2:c.3549C>G (p.Tyr1183Ter) ATM:c.5762_5763insNG_009830.1 ATM:c.5763-1050A>G ATM:c.641-39T>C ATM:c.*39-39T>C BRCA1:c.1855_1858AAAG[1] (p.Arg621Lysfs) BRCA1:c.1852_1855AAAG[1] (p.Arg620Lysfs) BRCA1:c.1849_1852AAAG[1] (p.Arg619Lysfs) BRCA1:c.1786_1789AAAG[1] (p.Arg598Lysfs) BRCA1:c.1783_1786AAAG[1] (p.Arg597Lysfs) BRCA2:c.1296_1297del (p.Asn433fs) BRCA2:c.1929del (p.Arg645fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.518del BRCA2:c.5350_5351del (p.Asn1784fs) BRCA2:c.5799_5802del (p.Asn1933fs) BRCA2:c.778_779del (p.Glu260fs) BRCA2:c.7976G>A (p.Arg2659Lys) BRCA2:c.7977-1G>C BRCA2:c.8331+1G>A BRCA2:c.9076C>T (p.Gln3026Ter) BRCA2:c.9253dup BRCA2:c.9253dup (p.Thr3085fs) BRCA2:c.9435_9436delGT BRCA2:c.9435_9436del (p.Ser3147fs) BRCA2:c.3975_3978dup (p.Ala1327fs) BRCA2:c.4456_4459del (p.Val1486fs) BRCA2:c.475G>A (p.Val159Met) BRCA2:c.4940_4941del (p.Thr1647fs) BRCA2:c.5130_5133del (p.Asp1709_Tyr1710insTer) BRCA2:c.5616_5620del (p.Lys1872fs) BRCA2:c.5857G>T (p.Glu1953Ter) BRCA2:c.6676_6677del (p.Glu2226fs) BRCA2:c.7007G>C (p.Arg2336Pro) BRCA2:c.8575C>T (p.Gln2859Ter) BRCA2:c.9331G>T (p.Glu3111Ter) BRCA2:c.6068_6072del (p.Asp2023fs) BRCA2:c.1642C>T (p.Gln548Ter) BARD1:c.1690C>T BARD1:c.1690C>T (p.Gln564Ter) BARD1:c.1633C>T (p.Gln545Ter) BARD1:c.337C>T (p.Gln113Ter) BARD1:c.280C>T (p.Gln94Ter) BARD1:c.365-15334C>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.661_662delinsTA (p.Val221Ter) PTEN:c.1061C>A PTEN:c.1061C>A (p.Pro354Gln) PTEN:c.1580C>A (p.Pro527Gln) PTEN:c.470C>A (p.Pro157Gln) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del PALB2:c.109-2A>G ATM:c.901+1G>A MRE11:c.1867+2T>C MRE11:c.1864+2T>C MRE11:c.1783+1411T>C CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T BRCA2:c.3257_3258del (p.Ile1086fs) RAD51D:c.270_271dup (p.Lys91fs) RAD51D:c.330_331dup (p.Lys111fs) RAD51D:c.145-960_145-959dup BRCA2:c.7865dup (p.Asn2622fs) BRCA2:c.6938-1G>A NF1:c.1721+3A>G NF1:c.1724A>G (p.Tyr575Cys) PALB2:c.93dup PALB2:c.93dup (p.Leu32fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast cancer research and treatment:2017 | |||
RAF1 gene MST1R gene ERBB2 gene NOTCH2 gene ERCC1 gene BARD1 gene ATM gene CHEK2 gene TP53 gene | hereditary breast cancer known breast cancer | 17 | c.1100delC | SOS1:c.3347-1G>A SOS1:c.3326-1G>A SOS1:c.3347-1724G>A APC:c.1658C>T (p.Ser553Phe) APC:c.1634C>T (p.Ser545Phe) APC:c.1529C>T (p.Ser510Phe) APC:c.1520C>T (p.Ser507Phe) APC:c.1481C>T (p.Ser494Phe) APC:c.1427C>T (p.Ser476Phe) APC:c.1331C>T (p.Ser444Phe) APC:c.1301C>T (p.Ser434Phe) APC:c.1226C>T (p.Ser409Phe) APC:c.1124C>T (p.Ser375Phe) APC:c.755C>T (p.Ser252Phe) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del SLX4:c.3368C>A SLX4:c.3368C>A (p.Ser1123Tyr) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) TSC2:c.3584C>T TSC2:c.3485C>T (p.Ala1162Val) TSC2:c.3455C>T (p.Ala1152Val) TSC2:c.3584C>T (p.Ala1195Val) TSC2:c.3452C>T (p.Ala1151Val) TSC2:c.3344C>T (p.Ala1115Val) TSC2:c.3308C>T (p.Ala1103Val) MSH3:c.2659G>A MSH3:c.2659G>A (p.Asp887Asn) SLX4:c.4766G>A SLX4:c.4766G>A (p.Arg1589His) BARD1:c.2215dupT BARD1:c.2215dup (p.Tyr739fs) BARD1:c.2158dup (p.Tyr720fs) BARD1:c.862dup (p.Tyr288fs) BARD1:c.805dup (p.Tyr269fs) BARD1:c.676dup (p.Tyr226fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. Frontiers in genetics:2018 | ||
BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate | 150 | NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) BRCA2:c.2808_2811del (p.Ala938fs) BRCA2:c.5946del (p.Ser1982fs) MLH1:c.914A>G (p.Tyr305Cys) MLH1:c.863A>G (p.Tyr288Cys) MLH1:c.1838A>G (p.Tyr613Cys) MLH1:c.1772A>G (p.Tyr591Cys) MLH1:c.1897-347A>G MLH1:c.1896+874A>G BRCA1:c.4357+1G>A BRCA1:c.4216+1G>A BRCA1:c.1048+1G>A BRCA2:c.4163_4164delinsA (p.Thr1388fs) BRCA2:c.938C>T (p.Ser313Phe) BRCA1:c.4397G>C (p.Arg1466Thr) BRCA1:c.4256G>C (p.Arg1419Thr) BRCA1:c.4253G>C (p.Arg1418Thr) BRCA2:c.462_463del (p.Arg155_Asp156insTer) BRCA2:c.7879A>T (p.Ile2627Phe) BRCA2:c.9285C>G (p.Asp3095Glu) BRCA1:c.699C>A (p.Tyr233Ter) BRCA1:c.696C>A (p.Tyr232Ter) BRCA1:c.576C>A (p.Tyr192Ter) BRCA1:c.4389C>A (p.Tyr1463Ter) BRCA1:c.4248C>A (p.Tyr1416Ter) BRCA1:c.1077C>A (p.Tyr359Ter) BRCA1:c.4452C>A (p.Tyr1484Ter) MSH6:c.2561A>T (p.Lys854Met) MSH6:c.2171A>T (p.Lys724Met) MSH6:c.1655A>T (p.Lys552Met) MSH6:c.3245C>T (p.Pro1082Leu) MSH6:c.2855C>T (p.Pro952Leu) MSH6:c.2339C>T (p.Pro780Leu) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G PALB2:c.1050_1053del (p.Thr351fs) PALB2:c.2674G>A (p.Glu892Lys) ATM:c.1009C>T (p.Arg337Cys) ATM:c.8968G>A (p.Glu2990Lys) ATM:c.640+20721C>T ATM:c.694+20721C>T BARD1:c.1568T>C BARD1:c.1568T>C (p.Val523Ala) BARD1:c.1511T>C (p.Val504Ala) BARD1:c.159-14927T>C BARD1:c.216-14927T>C BARD1:c.364+24815T>C MUTYH:c.583A>G (p.Ile195Val) MUTYH:c.667A>G (p.Ile223Val) MUTYH:c.628A>G (p.Ile210Val) MUTYH:c.616A>G (p.Ile206Val) MUTYH:c.307A>G (p.Ile103Val) MUTYH:c.238A>G (p.Ile80Val) MUTYH:c.658A>G (p.Ile220Val) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) MLH1:c.1481G>C (p.Ser494Thr) MLH1:c.752G>C (p.Ser251Thr) MLH1:c.701G>C (p.Ser234Thr) MLH1:c.1775G>C (p.Ser592Thr) MLH1:c.1676G>C (p.Ser559Thr) MLH1:c.1732-955G>C ATM:c.1844T>C (p.Leu615Pro) CHEK2:c.592+4A>G CHEK2:c.445-50A>G CHEK2:c.-186+4A>G CHEK2:c.721+4A>G APC:c.7618C>A (p.Pro2540Thr) APC:c.7594C>A (p.Pro2532Thr) APC:c.7489C>A (p.Pro2497Thr) APC:c.7480C>A (p.Pro2494Thr) APC:c.7441C>A (p.Pro2481Thr) APC:c.7387C>A (p.Pro2463Thr) APC:c.7291C>A (p.Pro2431Thr) APC:c.7261C>A (p.Pro2421Thr) APC:c.7186C>A (p.Pro2396Thr) APC:c.7084C>A (p.Pro2362Thr) APC:c.6715C>A (p.Pro2239Thr) ATM:c.829G>T (p.Glu277Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A NBN:c.480+5G>A NBN:c.234+5G>A CDH1:c.2195G>A CDH1:c.2012G>A (p.Arg671Gln) CDH1:c.647G>A (p.Arg216Gln) CDH1:c.230G>A (p.Arg77Gln) CDH1:c.2195G>A (p.Arg732Gln) PMS2:c.230+4A>G PMS2:c.-131+4A>G PMS2:c.398+4A>G PMS2:c.494+4A>G PMS2:c.485+4A>G PMS2:c.803+4A>G ATM:c.8783G>A (p.Arg2928Lys) ATM:c.640+32043C>T ATM:c.695-18585C>T CDH1:c.1988A>G CDH1:c.1805A>G (p.Tyr602Cys) CDH1:c.440A>G (p.Tyr147Cys) CDH1:c.23A>G (p.Tyr8Cys) CDH1:c.1988A>G (p.Tyr663Cys) NBN:c.171+4T>C NBN:c.-126+4T>C BRIP1:c.590C>T (p.Ser197Phe) BRCA2:c.4164T>A (p.Thr1388_Phe1389=) BRCA2:c.4164T>A PMS2:c.1328G>A (p.Arg443His) PMS2:c.1577G>A (p.Arg526His) PMS2:c.1415G>A (p.Arg472His) PMS2:c.1172G>A (p.Arg391His) PMS2:c.800G>A (p.Arg267His) PMS2:c.1160G>A (p.Arg387His) PMS2:c.1733G>A (p.Arg578His) PMS2:c.1424G>A (p.Arg475His) STK11:c.71C>T (p.Thr24Met) MSH6:c.170_184del15 MSH6:c.170_184del (p.Pro57_Ala61del) MSH6:c.-567_-553del MSH6:c.3574del (p.Val1192fs) MSH6:c.3184del (p.Val1062fs) MSH6:c.2668del (p.Val890fs) ATM:c.1843C>G (p.Leu615Val) | Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. The Prostate:2018 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 703 | c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.1254delT CHEK2:c.1383del (p.Phe461fs) CHEK2:c.591del (p.Phe197fs) CHEK2:c.1053del (p.Phe351fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1167del (p.Phe389fs) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. The Prostate:2018 | |||
RTEL1 gene POLH gene MAST1 gene CHEK2 gene ATM gene PALB2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma hereditary breast and ovarian cancer | 113 | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) PALB2:c.11C>T (p.Pro4Leu) PALB2:c.2903C>G (p.Ala968Gly) PALB2:c.3128G>C (p.Gly1043Ala) CHEK2:c.1196C>T (p.Ser399Leu) CHEK2:c.404C>T (p.Ser135Leu) CHEK2:c.866C>T (p.Ser289Leu) CHEK2:c.1067C>T (p.Ser356Leu) CHEK2:c.1009-1056C>T CHEK2:c.1067C>T CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) ATM:c.1009C>T (p.Arg337Cys) ATM:c.1010G>A (p.Arg337His) ATM:c.2770C>T (p.Arg924Trp) ATM:c.2932T>C (p.Ser978Pro) ATM:c.295A>G (p.Ser99Gly) ATM:c.4324T>C (p.Tyr1442His) ATM:c.4414T>G (p.Leu1472Val) ATM:c.5185G>C (p.Val1729Leu) ATM:c.5228C>T (p.Thr1743Ile) ATM:c.5882A>G (p.Tyr1961Cys) ATM:c.641-1208T>C ATM:c.*39-1208T>C ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.610G>A (p.Gly204Arg) ATM:c.68G>A (p.Arg23Gln) ATM:c.7390T>C (p.Cys2464Arg) ATM:c.641-21225A>G ATM:c.*38+4924A>G CHEK2:c.1180G>A CHEK2:c.1309G>A (p.Glu437Lys) CHEK2:c.517G>A (p.Glu173Lys) CHEK2:c.979G>A (p.Glu327Lys) CHEK2:c.1180G>A (p.Glu394Lys) CHEK2:c.1093G>A (p.Glu365Lys) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) ATM:c.8495G>A (p.Arg2832His) ATM:c.641-36748C>T ATM:c.695-10527C>T ATM:c.2149C>T (p.Arg717Trp) ATM:c.5750G>C (p.Arg1917Thr) CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1725del (p.Thr576fs) CHEK2:c.933del (p.Thr312fs) CHEK2:c.1395del (p.Thr466fs) CHEK2:c.1596del (p.Thr533fs) CHEK2:c.1509del (p.Thr504fs) CHEK2:c.1596delC CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T PALB2:c.2257C>T (p.Arg753Ter) ATM:c.1464G>T (p.Trp488Cys) PALB2:c.3320T>C (p.Leu1107Pro) ATM:c.670A>G (p.Lys224Glu) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) ATM:c.5753G>C (p.Arg1918Thr) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.1265G>A CHEK2:c.1394G>A (p.Ser465Asn) CHEK2:c.602G>A (p.Ser201Asn) CHEK2:c.1064G>A (p.Ser355Asn) CHEK2:c.1265G>A (p.Ser422Asn) CHEK2:c.1178G>A (p.Ser393Asn) CHEK2:c.1039G>A CHEK2:c.1168G>A (p.Asp390Asn) CHEK2:c.376G>A (p.Asp126Asn) CHEK2:c.838G>A (p.Asp280Asn) CHEK2:c.1039G>A (p.Asp347Asn) CHEK2:c.1009-1084G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CDKN2A:c.206A>G (p.Glu69Gly) CDKN2A:c.53A>G (p.Glu18Gly) CDKN2A:c.249A>G (p.Gly83=) CDKN2A:c.*129A>G ATM:c.1A>C (p.Met1Leu) PALB2:c.2336C>G (p.Ser779Ter) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del ATM:c.6115G>A (p.Glu2039Lys) ATM:c.641-6959C>T ATM:c.*39-6959C>T PALB2:c.2606C>G (p.Ser869Cys) ATM:c.3256C>T (p.Arg1086Cys) ATM:c.8138G>A (p.Arg2713Lys) ATM:c.641-26025C>T ATM:c.*38+124C>T PALB2:c.3494C>T (p.Ser1165Leu) PALB2:c.3350G>A (p.Arg1117Lys) PALB2:c.2325dup (p.Phe776fs) PALB2:c.487_488del PALB2:c.487_488del (p.Val163fs) ATM:c.1236-2A>T PALB2:c.2850del (p.Ser951fs) ATM:c.1595G>A (p.Cys532Tyr) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) ATM:c.6203T>C (p.Leu2068Ser) ATM:c.641-8306A>G ATM:c.*39-8306A>G PALB2:c.1595C>T (p.Pro532Leu) ATM:c.8624A>G (p.Asn2875Ser) ATM:c.641-38247T>C ATM:c.695-12026T>C FANCI:c.3466G>C (p.Gly1156Arg) FANCI:c.3187G>C (p.Gly1063Arg) FANCI:c.3286G>C (p.Gly1096Arg) ATM:c.4466G>A (p.Arg1489His) ATM:c.4853G>A (p.Arg1618Gln) ATM:c.5227A>T (p.Thr1743Ser) CHEK2:c.1003G>C CHEK2:c.1132G>C (p.Val378Leu) CHEK2:c.340G>C (p.Val114Leu) CHEK2:c.802G>C (p.Val268Leu) CHEK2:c.1003G>C (p.Val335Leu) ATM:c.4244A>G (p.Tyr1415Cys) PALB2:c.2750T>C (p.Val917Ala) FANCI:c.824T>C (p.Ile275Thr) FANCI:c.545T>C (p.Ile182Thr) ATM:c.6119C>T (p.Ala2040Val) ATM:c.641-6963G>A ATM:c.*39-6963G>A CHEK2:c.602T>C CHEK2:c.731T>C (p.Phe244Ser) CHEK2:c.-62T>C CHEK2:c.602T>C (p.Phe201Ser) CHEK2:c.482+5410T>C ATM:c.7999A>T (p.Met2667Leu) ATM:c.641-24886T>A ATM:c.*38+1263T>A ATM:c.6289G>T (p.Glu2097Ter) ATM:c.641-8392C>A ATM:c.*39-8392C>A CHEK2:c.692G>A CHEK2:c.821G>A (p.Cys274Tyr) CHEK2:c.29G>A (p.Cys10Tyr) CHEK2:c.491G>A (p.Cys164Tyr) CHEK2:c.692G>A (p.Cys231Tyr) RTEL1:c.1189C>G (p.Gln397Glu) RTEL1:c.1261C>G (p.Gln421Glu) RTEL1:c.520C>G (p.Gln174Glu) CHEK2:c.283C>G CHEK2:c.283C>G (p.Arg95Gly) CHEK2:c.-495C>G CHEK2:c.319G>A CHEK2:c.319G>A (p.Glu107Lys) CHEK2:c.-459G>A FANCI:c.3188A>T (p.Asp1063Val) FANCI:c.2909A>T (p.Asp970Val) FANCI:c.3008A>T (p.Asp1003Val) FANCI:c.3188A>T ATM:c.14T>G (p.Leu5Arg) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) | nucleaotide-sequencing | Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. International journal of cancer:2019 | |||
NBN gene RAD51C gene PTEN gene PMS2 gene PALB2 gene HRAS gene FANCM gene FANCG gene CHEK2 gene CDH1 gene BRCA1 gene BLM gene ATM gene | Breast Carcinoma Malignant neoplasm of ovary breast and breast and ovarian cancer hereditary breast and | 237 | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) SMAD4:c.565C>T (p.Arg189Cys) BRCA2:c.7928C>T (p.Ala2643Val) PALB2:c.172_175del (p.Gln60fs) ATM:c.4324T>C (p.Tyr1442His) PMS2:c.1085G>A (p.Gly362Asp) PMS2:c.1334G>A (p.Gly445Asp) PMS2:c.1172G>A (p.Gly391Asp) PMS2:c.929G>A (p.Gly310Asp) PMS2:c.557G>A (p.Gly186Asp) PMS2:c.917G>A (p.Gly306Asp) PMS2:c.1490G>A (p.Gly497Asp) PMS2:c.1181G>A (p.Gly394Asp) SMAD4:c.424+5G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) BRIP1:c.1255C>T (p.Arg419Trp) RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.5645G>A (p.Arg1882Gln) CDH1:c.1137G>A CDH1:c.1137G>A (p.Thr379=) CDH1:c.-479G>A CDH1:c.-683G>A MSH6:c.2875C>T (p.Arg959Cys) MSH6:c.2485C>T (p.Arg829Cys) MSH6:c.1969C>T (p.Arg657Cys) APC:c.7628G>A (p.Arg2543His) APC:c.7604G>A (p.Arg2535His) APC:c.7499G>A (p.Arg2500His) APC:c.7490G>A (p.Arg2497His) APC:c.7451G>A (p.Arg2484His) APC:c.7397G>A (p.Arg2466His) APC:c.7301G>A (p.Arg2434His) APC:c.7271G>A (p.Arg2424His) APC:c.7196G>A (p.Arg2399His) APC:c.7094G>A (p.Arg2365His) APC:c.6725G>A (p.Arg2242His) BMPR1A:c.499A>G (p.Met167Val) MSH6:c.175C>A (p.Pro59Thr) MSH6:c.-562C>A MSH2:c.2211-6C>A MSH2:c.2013-6C>A FANCA:c.2602-9_2602-8del FANCA:c.2602-13CT[2] FANCM:c.1576C>G FANCM:c.1498C>G (p.Leu500Val) FANCM:c.1576C>G (p.Leu526Val) MSH2:c.2164G>A MSH2:c.2164G>A (p.Val722Ile) MSH2:c.1966G>A (p.Val656Ile) MLH1:c.766G>A (p.Gly256Ser) MLH1:c.37G>A (p.Gly13Ser) MLH1:c.-15G>A MLH1:c.1060G>A (p.Gly354Ser) MLH1:c.961G>A (p.Gly321Ser) BRCA1:c.4186_4357dup BRIP1:c.2623G>C (p.Glu875Gln) ATM:c.4631A>G (p.Tyr1544Cys) ATM:c.2818A>G (p.Lys940Glu) RAD51C:c.454G>T RAD51C:c.454G>T (p.Ala152Ser) ATM:c.4109+6T>G ATM:c.2141C>T (p.Thr714Ile) FANCM:c.1237T>C FANCM:c.1159T>C (p.Tyr387His) FANCM:c.1237T>C (p.Tyr413His) ATM:c.8821_8822TC[1] (p.Gln2942Glyfs) ATM:c.8823_8824del (p.Gln2942fs) ATM:c.640+31075_640+31076del ATM:c.695-19553_695-19552del FANCG:c.1182_1192delinsC FANCG:c.1182_1192delinsC (p.Glu395fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | nucleaotide-sequencing comparative genomic hybridization | The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants. International journal of cancer:2019 | |||
POLD1 gene PTEN gene PMS2 gene TP53 gene NF1 gene ATM gene CHEK2 gene | Thyroid carcinoma hereditary tumor syndrome | 173 | APC:c.1661T>C (p.Ile554Thr) APC:c.1556T>C (p.Ile519Thr) APC:c.1547T>C (p.Ile516Thr) APC:c.1508T>C (p.Ile503Thr) APC:c.1454T>C (p.Ile485Thr) APC:c.1358T>C (p.Ile453Thr) APC:c.1328T>C (p.Ile443Thr) APC:c.1253T>C (p.Ile418Thr) APC:c.1151T>C (p.Ile384Thr) APC:c.782T>C (p.Ile261Thr) APC:c.1631T>C RAD50:c.1277A>G RAD50:c.1277A>G (p.Gln426Arg) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T APC:c.5063C>T (p.Ala1688Val) APC:c.5039C>T (p.Ala1680Val) APC:c.4934C>T (p.Ala1645Val) APC:c.4925C>T (p.Ala1642Val) APC:c.4886C>T (p.Ala1629Val) APC:c.4832C>T (p.Ala1611Val) APC:c.4736C>T (p.Ala1579Val) APC:c.4706C>T (p.Ala1569Val) APC:c.4631C>T (p.Ala1544Val) APC:c.4529C>T (p.Ala1510Val) APC:c.4160C>T (p.Ala1387Val) PMS2:c.1712del (p.Lys571fs) PMS2:c.1961del (p.Lys654fs) PMS2:c.1799del (p.Lys600fs) PMS2:c.1556del (p.Lys519fs) PMS2:c.1184del (p.Lys395fs) PMS2:c.1544del (p.Lys515fs) PMS2:c.2117del (p.Lys706fs) PMS2:c.1808del (p.Lys603fs) BARD1:c.119C>T BARD1:c.119C>T (p.Ala40Val) POLD1:c.961G>A POLD1:c.961G>A (p.Gly321Ser) PALB2:c.3494C>T (p.Ser1165Leu) NF1:c.3197+9dup MSH6:c.3664T>G (p.Phe1222Val) MSH6:c.3274T>G (p.Phe1092Val) MSH6:c.2758T>G (p.Phe920Val) MSH6:c.3600A>G (p.Ile1200Met) MSH6:c.3210A>G (p.Ile1070Met) MSH6:c.2694A>G (p.Ile898Met) RAD51C:c.706-1G>A MSH6:c.3724C>T (p.Arg1242Cys) MSH6:c.3334C>T (p.Arg1112Cys) MSH6:c.2818C>T (p.Arg940Cys) POLE:c.6262C>T POLE:c.6262C>T (p.Pro2088Ser) APC:c.7699C>T (p.Arg2567Cys) APC:c.7675C>T (p.Arg2559Cys) APC:c.7570C>T (p.Arg2524Cys) APC:c.7561C>T (p.Arg2521Cys) APC:c.7522C>T (p.Arg2508Cys) APC:c.7468C>T (p.Arg2490Cys) APC:c.7372C>T (p.Arg2458Cys) APC:c.7342C>T (p.Arg2448Cys) APC:c.7267C>T (p.Arg2423Cys) APC:c.7165C>T (p.Arg2389Cys) APC:c.6796C>T (p.Arg2266Cys) BMPR1A:c.712C>G (p.Arg238Gly) RET:c.1927A>G (p.Thr643Ala) RET:c.1807A>G (p.Thr603Ala) RET:c.1663A>G (p.Thr555Ala) RET:c.3112A>G (p.Thr1038Ala) | nucleaotide-sequencing | nonsense mutation frameshift | Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary cancer in clinical practice:2019 | ||
PTEN gene PMS2 gene PALB2 gene BRIP1 gene RAD51C gene BRCA2 gene BRCA1 gene | Breast Carcinoma Malignant neoplasm of ovary breast and breast and ovarian cancer | 110 | FANCC:c.934A>G FANCC:c.934A>G (p.Ile312Val) CHEK2:c.1180G>A CHEK2:c.1309G>A (p.Glu437Lys) CHEK2:c.517G>A (p.Glu173Lys) CHEK2:c.979G>A (p.Glu327Lys) CHEK2:c.1180G>A (p.Glu394Lys) CHEK2:c.1093G>A (p.Glu365Lys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T PMS2:c.5A>G (p.Glu2Gly) PMS2:c.-211A>G PMS2:c.-71A>G PMS2:c.-586A>G PMS2:c.-261A>G PMS2:c.-880A>G PMS2:c.-875A>G PMS2:c.-396A>G PMS2:c.-475A>G PMS2:c.5A>G ATM:c.5278A>G (p.Met1760Val) ATM:c.2085G>A (p.Leu695=) | Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel. Journal of medical genetics:2020 | ||||
CHEK2 gene MUTYH gene BRCA1 gene | Breast Carcinoma breast and colon cancers hereditary cancer | p.Thr476Met c.1427C>T p.Pro295Leu c.884C>T | CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.803C>T (p.Pro268Leu) MUTYH:c.842C>T (p.Ala281Val) MUTYH:c.839C>T (p.Ala280Val) MUTYH:c.884C>T (p.Ala295Val) MUTYH:c.872C>T (p.Ala291Val) MUTYH:c.563C>T (p.Ala188Val) MUTYH:c.494C>T (p.Ala165Val) MUTYH:c.914C>T (p.Ala305Val) BRCA1:c.1430C>T (p.Ala477Val) BRCA1:c.1238C>T (p.Ala413Val) BRCA1:c.1235C>T (p.Ala412Val) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) BRCA1:c.1259C>T (p.Ser420Phe) BRCA1:c.1139C>T (p.Ser380Phe) BRCA1:c.1112C>T (p.Ser371Phe) BRCA1:c.4952C>T (p.Ser1651Phe) BRCA1:c.4811C>T (p.Ser1604Phe) BRCA1:c.1640C>T (p.Ser547Phe) BRCA1:c.5015C>T (p.Ser1672Phe) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) BRCA1:c.4739C>T (p.Ser1580Phe) BRCA1:c.4598C>T (p.Ser1533Phe) BRCA1:c.1427C>T (p.Ser476Phe) BRCA1:c.4802C>T (p.Ser1601Phe) BRCA1:c.1200delC (p.Pro401Leufs) BRCA1:c.1197delC (p.Pro400Leufs) BRCA1:c.1173delC (p.Pro392Leufs) BRCA1:c.1167delC (p.Pro390Leufs) BRCA1:c.1149delC (p.Pro384Leufs) | Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family. Cancer genetics:2022 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Patient's Ethnicity | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|---|
CHEK2 gene BRCA2 gene | Breast Carcinoma | belarusian | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | |||
NOD2 gene ERCC2 gene BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | 18(year) | female | polish | p.Glu1008Ter p.Lys751Gln p.Ala1991Val p.Ile157Thr | ERCC2:c.2251A>C (p.Lys751Gln) BRCA2:c.5972C>T (p.Ala1991Val) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA1:c.3406G>T (p.Glu1136Ter) BRCA1:c.3022G>T (p.Glu1008Ter) BRCA1:c.1306G>T (p.Glu436Ter) BRCA1:c.3910G>T (p.Glu1304Ter) BRCA1:c.3769G>T (p.Glu1257Ter) BRCA1:c.788-589G>T | nucleaotide-sequencing | Breast cancer in an 18-year-old female: A fatal case report and literature review. Cancer biology & therapy:2018 |
CHEK2 gene | Precursor B-cell lymphoblastic leukemia Leukemia, Myelomonocytic, Chronic Hematologic Neoplasms myelodysplastic syndrome myeloid and lymphoid neoplasms | p.Tyr159His c.475T>C | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-303T>C (n.-303T>C) CHEK2:c.444+149T>C (n.444+149T>C) | nucleaotide-sequencing Exome sequencing | Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant. Cold Spring Harbor molecular case studies:2021 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
CHEK2 gene | Malignant neoplasm of prostate prostate carcinogenesis | 149 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1109A>G (p.Tyr370Cys) CHEK2:c.317A>G (p.Tyr106Cys) CHEK2:c.779A>G (p.Tyr260Cys) CHEK2:c.980A>G (p.Tyr327Cys) CHEK2:c.980A>G CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | polymerase chain reaction | frameshift missense mutation | Mutations in CHEK2 associated with prostate cancer risk. American journal of human genetics:2003 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 737 | 335 | p.Ile157Thr p.Arg145Trp p.Arg117Gly c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. American journal of human genetics:2003 | ||||
CHEK2 gene | Malignant neoplasm of prostate hereditary prostate cancer | 120 | p.Ile157Thr c.1100delC | CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2 variants associate with hereditary prostate cancer. British journal of cancer:2003 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 516 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.1022A>C CHEK2:c.1151A>C (p.Asn384Thr) CHEK2:c.359A>C (p.Asn120Thr) CHEK2:c.821A>C (p.Asn274Thr) CHEK2:c.1022A>C (p.Asn341Thr) CHEK2:c.1009-1101A>C | splice site mutation | Limited relevance of the CHEK2 gene in hereditary breast cancer. International journal of cancer:2004 | ||||
CHEK2 gene | Breast Carcinoma | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variant I157T may be associated with increased breast cancer risk. International journal of cancer:2004 | ||||||
CHEK2 gene | Thyroid carcinoma Malignant neoplasm of prostate Malignant neoplasm of kidney Colon Carcinoma Breast Carcinoma breast and prostate cancer | 4008 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | missense mutation premature stop | CHEK2 is a multiorgan cancer susceptibility gene. American journal of human genetics:2004 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 140 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer research:2004 | ||||
CHEK2 gene TP53 gene BRCA1 gene CDC25C gene | Breast Carcinoma Li-Fraumeni Syndrome | 53 | c.1368insA p.Ile157Thr c.470T>C | TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Alternative splicing and mutation status of CHEK2 in stage III breast cancer. Oncogene:2004 | ||||
CHEK2 gene | Breast Carcinoma | 996 | heterozygous | c.IVS2+1G>A p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Association of two mutations in the CHEK2 gene with breast cancer. International journal of cancer:2005 | |||
CHEK2 gene | Breast Carcinoma lobular carcinoma | 482 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Pathology of breast cancer in women with constitutional CHEK2 mutations. Breast cancer research and treatment:2005 | ||||
NBN gene CHEK2 gene BRCA1 gene | Breast Carcinoma | p.Ile157Thr c.5382insC c.4153delA p.Cys61Gly | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA1:c.469delA (p.Ser157Alafs) BRCA1:c.760delA (p.Ser254Alafs) BRCA1:c.763delA (p.Ser255Alafs) BRCA1:c.4282del (p.Ser1428fs) BRCA1:c.4141del (p.Ser1381fs) BRCA1:c.973del (p.Ser325fs) BRCA1:c.973delA (p.Ser325Alafs) BRCA1:c.4282del BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) | missense mutation | Breast cancer predisposing alleles in Poland. Breast cancer research and treatment:2005 | |||||
CHEK2 gene | Malignant neoplasm of ovary borderline ovarian cancers ovarian cystadenomas ovarian benign ovarian cystadenomas | 1108 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. Gynecologic oncology:2006 | |||||
NOD2 gene CHEK2 gene | Colorectal Carcinoma Colon Carcinoma Breast Carcinoma colorectal breast and colorectal cancers | 978 | p.Ile157Thr c.3020insC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia. Hereditary cancer in clinical practice:2006 | |||||
CHEK2 gene | Colorectal Carcinoma | 1042 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | restriction fragment length polymorphism | CHEK2 I157T associates with familial and sporadic colorectal cancer. Journal of medical genetics:2006 | ||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. Journal of medical genetics:2006 | ||||||
BUB1B gene BRCA2 gene CHEK2 gene ATM gene | Chronic Lymphocytic Leukemia | 992 | p.Gln349Arg p.Asn372His p.Ile157Thr p.Pro1054Arg p.Phe858Leu | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.6100C>T (p.Arg2034Cys) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G ATM:c.1744T>C (p.Phe582Leu) ATM:c.2572T>C (p.Phe858Leu) ATM:c.1746C>G (p.Phe582Leu) BRCA2:c.1114A>C BRCA2:c.1114A>C (p.Asn372His) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) ATM:c.3161C>G (p.Pro1054Arg) | Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. Blood:2006 | |||||
CHEK2 gene | Malignant neoplasm of prostate | p.Glu321Lys c.967A>C p.Arg117Gly c.349A>G | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1160C>T CHEK2:c.1289C>T (p.Thr430Ile) CHEK2:c.497C>T (p.Thr166Ile) CHEK2:c.959C>T (p.Thr320Ile) CHEK2:c.1160C>T (p.Thr387Ile) CHEK2:c.1073C>T (p.Thr358Ile) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.1160C>A CHEK2:c.1289C>A (p.Thr430Asn) CHEK2:c.497C>A (p.Thr166Asn) CHEK2:c.959C>A (p.Thr320Asn) CHEK2:c.1160C>A (p.Thr387Asn) CHEK2:c.1073C>A (p.Thr358Asn) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.347G>C CHEK2:c.-431G>C CHEK2:c.347G>C (p.Gly116Ala) CHEK2:c.476G>C (p.Gly159Ala) CHEK2:c.1276A>G (p.Thr426Ala) CHEK2:c.484A>G (p.Thr162Ala) CHEK2:c.946A>G (p.Thr316Ala) CHEK2:c.1147A>G (p.Thr383Ala) CHEK2:c.1060A>G (p.Thr354Ala) CHEK2:c.1147A>G CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) CHEK2:c.1159A>G CHEK2:c.1288A>G (p.Thr430Ala) CHEK2:c.496A>G (p.Thr166Ala) CHEK2:c.958A>G (p.Thr320Ala) CHEK2:c.1159A>G (p.Thr387Ala) CHEK2:c.1072A>G (p.Thr358Ala) CHEK2:c.961G>A CHEK2:c.1090G>A (p.Glu364Lys) CHEK2:c.298G>A (p.Glu100Lys) CHEK2:c.760G>A (p.Glu254Lys) CHEK2:c.961G>A (p.Glu321Lys) CHEK2:c.-429A>G (n.-429A>G) | Characterization of CHEK2 mutations in prostate cancer. Human mutation:2006 | ||||||
CHEK2 gene | Breast Carcinoma | 3228 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | premature stop missense mutation | CHEK2-positive breast cancers in young Polish women. Clinical cancer research : an official journal of the American Association for Cancer Research:2006 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | p.Tyr424His p.Glu84Glu p.Ser428Phe p.Arg180Cys p.Arg3Trp c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-771C>T (n.-771C>T) BRCA1:c.4438T>C (p.Tyr1480His) BRCA1:c.4531T>C (p.Tyr1511His) BRCA1:c.4390T>C (p.Tyr1464His) BRCA1:c.4387T>C (p.Tyr1463His) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction Electrophoresis nucleaotide-sequencing | premature stop missense mutation | Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. The Israel Medical Association journal : IMAJ:2007 | ||||
CHEK2 gene | Breast Carcinoma | 4454 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop missense mutation deletion | A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast cancer research and treatment:2007 | ||||
CHEK2 gene | Breast Carcinoma | 100 | heterozygous | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology:2007 | ||||
CHEK2 gene | Colorectal Carcinoma | 1085 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? European journal of human genetics : EJHG:2007 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer | p.Arg406His c.1217G>A p.Glu84Glu c.252A>G c.IVS2+1G>A p.Ser428Phe p.Ile157Thr c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.252A>G (p.Glu84=) CHEK2:c.-526A>G (n.-526A>G) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1073G>A (p.Arg358His) BRCA1:c.953G>A (p.Arg318His) BRCA1:c.926G>A (p.Arg309His) BRCA1:c.4766G>A (p.Arg1589His) BRCA1:c.4625G>A (p.Arg1542His) BRCA1:c.1454G>A (p.Arg485His) BRCA1:c.4829G>A (p.Arg1610His) BRCA1:c.980G>A (p.Ser327Asn) BRCA1:c.1217G>A (p.Ser406Asn) BRCA1:c.857G>A (p.Ser286Asn) BRCA1:c.473G>A (p.Ser158Asn) BRCA1:c.1361G>A (p.Ser454Asn) BRCA1:c.1220G>A (p.Ser407Asn) BRCA1:c.787+574G>A BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction | missense mutation | Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. BMC cancer:2008 | ||||
CDKN2A gene CHEK2 gene TP53 gene | Breast Carcinoma | 109 | p.Arg95Ter | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.1091T>C CHEK2:c.1220T>C (p.Ile407Thr) CHEK2:c.428T>C (p.Ile143Thr) CHEK2:c.890T>C (p.Ile297Thr) CHEK2:c.1091T>C (p.Ile364Thr) CHEK2:c.1009-1032T>C CHEK2:c.-495C>T (n.-495C>T) | nucleaotide-sequencing | CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. PloS one:2008 | ||||
CHEK2 gene | Carcinoma of larynx Malignant neoplasm of lung Colon Carcinoma tobacco upper aero-digestive cancers | 895 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers. Carcinogenesis:2008 | |||||
CHEK2 gene BRCA1 gene BRCA2 gene | Malignant neoplasm of prostate Breast Carcinoma Carcinoma of Male Breast breast/ovarian cancer | 102 | p.Ile157Thr c.IVS2+1G>A c.1100delC | BRCA2:c.1146A>T (p.Lys382Asn) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Breast cancer research and treatment:2008 | ||||
CHEK2 gene | Breast Carcinoma | 673 | p.Leu174Phe p.Thr172Ala p.Tyr159His c.IVS2+1G>A c.470T>C p.Ile157Thr | CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.573+1G>T CHEK2:c.444+1G>T CHEK2:c.-334+1G>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.514A>G CHEK2:c.643A>G (p.Thr215Ala) CHEK2:c.-264A>G CHEK2:c.514A>G (p.Thr172Ala) CHEK2:c.445-132A>G CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C CHEK2:c.520C>T CHEK2:c.649C>T (p.Leu217Phe) CHEK2:c.-258C>T CHEK2:c.520C>T (p.Leu174Phe) CHEK2:c.445-126C>T CHEK2:c.444+3A>G CHEK2:c.-334+3A>G CHEK2:c.573+3A>G CHEK2:c.-303T>C (n.-303T>C) CHEK2:c.444+149T>C (n.444+149T>C) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations. Breast cancer research and treatment:2008 | |||||
CHEK2 gene BRCA2 gene | melanoma malignant melanoma | 630 | homozygous | p.Ile157Thr c.1100delC p.Asn372His p.Asn991Asp p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA2:c.1114A>C BRCA2:c.1114A>C (p.Asn372His) BRCA2:c.2971A>G BRCA2:c.2971A>G (p.Asn991Asp) BRCA2:c.2971_2983del (p.Asn991AspfsTer3) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) | Common variants of DNA repair genes and malignant melanoma. European journal of cancer (Oxford, England : 1990):2008 | ||||
BRCA1 gene CHEK2 gene | Breast Carcinoma | 7782 | heterozygous | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. Journal of medical genetics:2009 | |||
CHEK2 gene BRCA2 gene | Breast Carcinoma | c.IVS2+1G>A c.1100delC p.Ile157Thr p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | ||||||
CHEK2 gene | Endometrial Carcinoma | 268 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | CHEK2 I157T and endometrial cancer. DNA and cell biology:2009 | |||||
CHEK2 gene | Colorectal Carcinoma | 631 | c.1100delC p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. European journal of cancer (Oxford, England : 1990):2009 | |||||
MSH6 gene MLH1 gene MSH2 gene CHEK2 gene | Colorectal Carcinoma hereditary non-polyposis-colorectal cancer | 1 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutations and HNPCC-related colorectal cancer. International journal of cancer:2010 | ||||
CHEK2 gene | Colorectal Carcinoma colorectal carcinogenesis | 802 | heterozygous | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | CHEK2 I157T and colorectal cancer in Bulgaria. Journal of B.U.ON. : official journal of the Balkan Union of Oncology:2010 | ||||
CHEK2 gene | Hodgkin Disease | 298 | p.Ile157Thr c.470T>C | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C | liquid chromatography | Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma. Neoplasma:2011 | ||||
CHEK2 gene | Thrombocytosis Thrombocythemia, Essential myeloid and lymphoid malignancies | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. Haematologica:2012 | ||||||
CHEK2 gene | Colorectal Carcinoma | 210 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population. Cancer epidemiology:2012 | ||||
CHEK2 gene BRCA1 gene | Breast Carcinoma | 1255 | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast cancer research and treatment:2012 | ||||
CHEK2 gene MLH1 gene | Colorectal Carcinoma | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer. Mutagenesis:2012 | ||||||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||||
CHEK2 gene TP53 gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene BRCA2 gene BRCA1 gene | Breast Carcinoma Papillary serous endometrial carcinoma li-fraumeni lynch lynch syndrome hereditary breast and ovarian carcinoma | 151 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C TP53:c.422G>A (p.Arg141His) TP53:c.701G>A (p.Arg234His) TP53:c.341G>A (p.Arg114His) BRCA1:c.1321C>T (p.Leu441Phe) BRCA1:c.1411C>T (p.Leu471Phe) BRCA1:c.1270C>T (p.Leu424Phe) BRCA1:c.2331delC (p.Asp777Glufs) BRCA1:c.2334delC (p.Asp778Glufs) BRCA1:c.2262delC (p.Asp754Glufs) BRCA1:c.2475delC (p.Asp825Glufs) BRCA1:c.2472delC (p.Asp824Glufs) BRCA1:c.3209C>T (p.Pro1070Leu) BRCA1:c.2825C>T (p.Pro942Leu) BRCA1:c.1109C>T (p.Pro370Leu) BRCA1:c.3713C>T (p.Pro1238Leu) BRCA1:c.3572C>T (p.Pro1191Leu) BRCA1:c.788-786C>T BRCA1:c.594-2A>C BRCA1:c.453-2A>C BRCA1:c.641A>G (p.Asp214Gly) BRCA1:c.638A>G (p.Asp213Gly) BRCA2:c.4585G>A (p.Gly1529Arg) BRCA2:c.4915G>A (p.Val1639Ile) BRCA2:c.5070A>C (p.Lys1690Asn) BRCA2:c.3569G>A (p.Arg1190Gln) BRCA2:c.6347A>G (p.His2116Arg) BRCA2:c.2960A>T (p.Asn987Ile) BRCA2:c.2960A>T BRCA2:c.4681C>A (p.His1561Asn) BRCA2:c.5635G>A (p.Glu1879Lys) BRCA2:c.6412G>T (p.Val2138Phe) BRCA2:c.673A>G (p.Thr225Ala) BRCA2:c.9816T>G (p.Asp3272Glu) BRCA1:c.1046A>G (p.His349Arg) BRCA1:c.1283A>G (p.His428Arg) BRCA1:c.923A>G (p.His308Arg) BRCA1:c.539A>G (p.His180Arg) BRCA1:c.1427A>G (p.His476Arg) BRCA1:c.1286A>G (p.His429Arg) BRCA1:c.787+640A>G BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) TP53:c.392G>A (p.Arg131His) TP53:c.869G>A TP53:c.869G>A (p.Arg290His) TP53:c.752G>A (p.Arg251His) TP53:c.473G>A (p.Arg158His) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) BRCA1:c.2353A>C (p.Lys785Gln) BRCA1:c.2590A>C (p.Lys864Gln) BRCA1:c.2230A>C (p.Lys744Gln) BRCA1:c.1846A>C (p.Lys616Gln) BRCA1:c.2734A>C (p.Lys912Gln) BRCA1:c.2593A>C (p.Lys865Gln) BRCA1:c.788-1765A>C | nucleaotide-sequencing | BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer:2013 | |||||
CHEK2 gene | Stomach Carcinoma breast and prostate cancers | 658 | p.Ile157Thr c.IVS2G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | The risk of gastric cancer in carriers of CHEK2 mutations. Familial cancer:2013 | ||||
CHEK2 gene | Liver carcinoma | 165 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. Gene:2013 | ||||
CHEK2 gene | Breast Carcinoma | 420 | p.Ile157Thr c.1100delC | CHEK2:c.1008+1G>C CHEK2:c.807+1G>C CHEK2:c.345+1G>C CHEK2:c.1137+1G>C CHEK2:c.1489_1490insCA (p.Glu497fs) CHEK2:c.697_698insCA (p.Glu233fs) CHEK2:c.1159_1160insCA (p.Glu387fs) CHEK2:c.1360_1361insCA (p.Glu454fs) CHEK2:c.1273_1274insCA (p.Glu425fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.1259+1G>C CHEK2:c.1172+1G>C CHEK2:c.1058+1G>C CHEK2:c.596+1G>C CHEK2:c.1388+1G>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.58C>T CHEK2:c.58C>T (p.Gln20Ter) CHEK2:c.-720C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.1260-1G>A CHEK2:c.1173-1G>A CHEK2:c.1059-1G>A CHEK2:c.597-1G>A CHEK2:c.1389-1G>A CHEK2:c.1140C>A (p.Tyr380Ter) CHEK2:c.348C>A (p.Tyr116Ter) CHEK2:c.810C>A (p.Tyr270Ter) CHEK2:c.1011C>A (p.Tyr337Ter) CHEK2:c.1009-1112C>A CHEK2:c.1011C>A CHEK2:c.902delT CHEK2:c.1031del (p.Leu344fs) CHEK2:c.239del (p.Leu80fs) CHEK2:c.701del (p.Leu234fs) CHEK2:c.902del (p.Leu301fs) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.790_793dup (p.Met265fs) CHEK2:c.-3_1dup (p.Met1fs) CHEK2:c.661_664dup (p.Met222fs) CHEK2:c.482+5469_482+5472dup CHEK2:c.661_664dupATCA CHEK2:c.655delG CHEK2:c.784del (p.Glu262fs) CHEK2:c.-9del CHEK2:c.655del (p.Glu219fs) CHEK2:c.482+5463del CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T CHEK2:c.846+1G>C CHEK2:c.645+1G>C CHEK2:c.183+1G>C CHEK2:c.975+1G>C CHEK2:c.792+2T>C CHEK2:c.591+2T>C CHEK2:c.129+2T>C CHEK2:c.921+2T>C CHEK2:c.1232G>A CHEK2:c.1361G>A (p.Trp454Ter) CHEK2:c.569G>A (p.Trp190Ter) CHEK2:c.1031G>A (p.Trp344Ter) CHEK2:c.1232G>A (p.Trp411Ter) CHEK2:c.1145G>A (p.Trp382Ter) CHEK2:c.372delC CHEK2:c.501del (p.Phe168fs) CHEK2:c.-406del CHEK2:c.372del (p.Phe125fs) CHEK2:c.276dupC CHEK2:c.276dup (p.Trp93fs) CHEK2:c.-502dup CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CHEK2:c.1376-1G>A CHEK2:c.1289-1G>A CHEK2:c.1175-1G>A CHEK2:c.713-1G>A CHEK2:c.1505-1G>A CHEK2:c.1375+1_1375+2delGT CHEK2:c.1288+1_1288+2del CHEK2:c.1174+1_1174+2del CHEK2:c.1375+1_1375+2del CHEK2:c.712+1_712+2del CHEK2:c.1504+1_1504+2del CHEK2:c.1315C>T CHEK2:c.1444C>T (p.Gln482Ter) CHEK2:c.652C>T (p.Gln218Ter) CHEK2:c.1114C>T (p.Gln372Ter) CHEK2:c.1315C>T (p.Gln439Ter) CHEK2:c.1228C>T (p.Gln410Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.920delG CHEK2:c.1049del (p.Gly350fs) CHEK2:c.257del (p.Gly86fs) CHEK2:c.719del (p.Gly240fs) CHEK2:c.920del (p.Gly307fs) CHEK2:c.875_876delTT CHEK2:c.1004_1005del (p.Phe334_Phe335insTer) CHEK2:c.212_213del (p.Phe70_Phe71insTer) CHEK2:c.674_675del (p.Phe224_Phe225insTer) CHEK2:c.875_876del (p.Phe291_Phe292insTer) CHEK2:c.876dupT CHEK2:c.1005dup (p.Asp336Ter) CHEK2:c.213dup (p.Asp72Ter) CHEK2:c.675dup (p.Asp226Ter) CHEK2:c.876dup (p.Asp293Ter) CHEK2:c.304G>T CHEK2:c.304G>T (p.Gly102Ter) CHEK2:c.-474G>T CHEK2:c.14_20delCGGATGT CHEK2:c.14_20del (p.Ser5fs) CHEK2:c.-764_-758del CHEK2:c.1201C>T (p.Gln401Ter) CHEK2:c.409C>T (p.Gln137Ter) CHEK2:c.871C>T (p.Gln291Ter) CHEK2:c.1072C>T (p.Gln358Ter) CHEK2:c.1009-1051C>T CHEK2:c.1072C>T CHEK2:c.683+1G>C CHEK2:c.482+5492G>C CHEK2:c.20+1G>C CHEK2:c.812+1G>C CHEK2:c.606delT CHEK2:c.735del (p.Phe245fs) CHEK2:c.-58del CHEK2:c.606del (p.Phe202fs) CHEK2:c.482+5414del CHEK2:c.507delT CHEK2:c.636del (p.Phe212fs) CHEK2:c.-271del CHEK2:c.507del (p.Phe169fs) CHEK2:c.445-139del CHEK2:c.1462-1G>A CHEK2:c.1375-1G>A CHEK2:c.1261-1G>A CHEK2:c.799-1G>A CHEK2:c.1591-1G>A CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.783_784delAA CHEK2:c.912_913del (p.Glu306fs) CHEK2:c.120_121del (p.Glu42fs) CHEK2:c.582_583del (p.Glu196fs) CHEK2:c.783_784del (p.Glu263fs) CHEK2:c.673dupA CHEK2:c.802dup (p.Thr268fs) CHEK2:c.10dup (p.Thr4fs) CHEK2:c.673dup (p.Thr225fs) CHEK2:c.482+5477dup CHEK2:c.31dupC CHEK2:c.31dup (p.Gln11fs) CHEK2:c.-747dup CHEK2:c.444+2T>C CHEK2:c.-334+2T>C CHEK2:c.573+2T>C CHEK2:c.282delT CHEK2:c.282del (p.Arg95fs) CHEK2:c.-496del CHEK2:c.1009-2A>G CHEK2:c.1009-1116A>G CHEK2:c.808-2A>G CHEK2:c.346-2A>G CHEK2:c.1138-2A>G CHEK2:c.417C>A CHEK2:c.546C>A (p.Tyr182Ter) CHEK2:c.-361C>A CHEK2:c.417C>A (p.Tyr139Ter) CHEK2:c.1259+2delT CHEK2:c.1172+2del CHEK2:c.1058+2del CHEK2:c.1259+2del CHEK2:c.596+2del CHEK2:c.1388+2del CHEK2:c.870del CHEK2:c.999del (p.Phe335fs) CHEK2:c.207del (p.Phe71fs) CHEK2:c.669del (p.Phe225fs) CHEK2:c.870del (p.Phe292fs) CHEK2:c.366delA CHEK2:c.495del (p.Glu165fs) CHEK2:c.-412del CHEK2:c.366del (p.Glu122fs) CHEK2:c.247C>T CHEK2:c.247C>T (p.Gln83Ter) CHEK2:c.-531C>T CHEK2:c.219_223delTATTC CHEK2:c.219_223del (p.Ser73_Ile74insTer) CHEK2:c.-564TATTC[1] CHEK2:c.109_119delGGCATATCCAG CHEK2:c.109_119del (p.Gly37fs) CHEK2:c.-669_-659del CHEK2:c.762delG CHEK2:c.891del (p.Lys298fs) CHEK2:c.99del (p.Lys34fs) CHEK2:c.561del (p.Lys188fs) CHEK2:c.762del (p.Lys255fs) CHEK2:c.326_327delTG CHEK2:c.455_456del (p.Val152fs) CHEK2:c.-456TG[2] CHEK2:c.326_327del (p.Val109fs) CHEK2:c.1163_1164dup CHEK2:c.1292_1293dup (p.Thr432fs) CHEK2:c.500_501dup (p.Thr168fs) CHEK2:c.962_963dup (p.Thr322fs) CHEK2:c.1163_1164dup (p.Thr389fs) CHEK2:c.1076_1077dup (p.Thr360fs) CHEK2:c.1008+1G>T CHEK2:c.807+1G>T CHEK2:c.345+1G>T CHEK2:c.1137+1G>T CHEK2:c.319+1G>C CHEK2:c.-459+1G>C CHEK2:c.616_617delGT CHEK2:c.745_746del (p.Val249fs) CHEK2:c.-48_-47del CHEK2:c.616_617del (p.Val206fs) CHEK2:c.482+5424_482+5425del CHEK2:c.529A>T CHEK2:c.658A>T (p.Lys220Ter) CHEK2:c.-249A>T CHEK2:c.529A>T (p.Lys177Ter) CHEK2:c.445-117A>T CHEK2:c.793-2A>G CHEK2:c.592-2A>G CHEK2:c.130-2A>G CHEK2:c.922-2A>G CHEK2:c.792+1G>A CHEK2:c.591+1G>A CHEK2:c.129+1G>A CHEK2:c.921+1G>A CHEK2:c.757A>T CHEK2:c.886A>T (p.Lys296Ter) CHEK2:c.94A>T (p.Lys32Ter) CHEK2:c.556A>T (p.Lys186Ter) CHEK2:c.757A>T (p.Lys253Ter) CHEK2:c.1375+2T>A CHEK2:c.1288+2T>A CHEK2:c.1174+2T>A CHEK2:c.712+2T>A CHEK2:c.1504+2T>A CHEK2:c.151C>T CHEK2:c.151C>T (p.Gln51Ter) CHEK2:c.-627C>T CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1443_1444delAA CHEK2:c.1572_1573del (p.Arg525fs) CHEK2:c.780_781del (p.Arg261fs) CHEK2:c.1242_1243del (p.Arg415fs) CHEK2:c.1443_1444del (p.Arg482fs) CHEK2:c.1356_1357del (p.Arg453fs) CHEK2:c.1063delC CHEK2:c.1192del (p.Leu398fs) CHEK2:c.400del (p.Leu134fs) CHEK2:c.862del (p.Leu288fs) CHEK2:c.1063del (p.Leu355fs) CHEK2:c.1009-1060del CHEK2:c.468C>A CHEK2:c.597C>A (p.Tyr199Ter) CHEK2:c.-310C>A CHEK2:c.468C>A (p.Tyr156Ter) CHEK2:c.444+142C>A CHEK2:c.1096-1G>T CHEK2:c.1009-1G>T CHEK2:c.895-1G>T CHEK2:c.433-1G>T CHEK2:c.1225-1G>T CHEK2:c.448delG CHEK2:c.577del (p.Val193fs) CHEK2:c.-330del CHEK2:c.448del (p.Val150fs) CHEK2:c.444+122del CHEK2:c.292delG CHEK2:c.292del (p.Ala98fs) CHEK2:c.-486del CHEK2:c.1096delA CHEK2:c.1225del (p.Ile409fs) CHEK2:c.433del (p.Ile145fs) CHEK2:c.895del (p.Ile299fs) CHEK2:c.1096del (p.Ile366fs) CHEK2:c.1009del (p.Ile337fs) CHEK2:c.836delA CHEK2:c.965del (p.Lys322fs) CHEK2:c.173del (p.Lys58fs) CHEK2:c.635del (p.Lys212fs) CHEK2:c.836del (p.Lys279fs) CHEK2:c.1454G>A CHEK2:c.1583G>A (p.Trp528Ter) CHEK2:c.791G>A (p.Trp264Ter) CHEK2:c.1253G>A (p.Trp418Ter) CHEK2:c.1454G>A (p.Trp485Ter) CHEK2:c.1367G>A (p.Trp456Ter) CHEK2:c.1188_1194dupTGTTTCT CHEK2:c.1317_1323dup (p.Val442fs) CHEK2:c.525_531dup (p.Val178fs) CHEK2:c.987_993dup (p.Val332fs) CHEK2:c.1188_1194dup (p.Val399fs) CHEK2:c.1101_1107dup (p.Val370fs) CHEK2:c.1022delA CHEK2:c.1151del (p.Asn384fs) CHEK2:c.359del (p.Asn120fs) CHEK2:c.821del (p.Asn274fs) CHEK2:c.1022del (p.Asn341fs) CHEK2:c.1009-1101del CHEK2:c.683+2T>C CHEK2:c.482+5493T>C CHEK2:c.20+2T>C CHEK2:c.812+2T>C CHEK2:c.383delC CHEK2:c.512del (p.Pro171fs) CHEK2:c.-395del CHEK2:c.383del (p.Pro128fs) CHEK2:c.161_164delACTC CHEK2:c.161_164del (p.His54fs) CHEK2:c.-617_-614del CHEK2:c.1007delA CHEK2:c.1136del (p.Gln379fs) CHEK2:c.344del (p.Gln115fs) CHEK2:c.806del (p.Gln269fs) CHEK2:c.1007del (p.Gln336fs) CHEK2:c.1114del (p.Tyr372fs) CHEK2:c.322del (p.Tyr108fs) CHEK2:c.784del (p.Tyr262fs) CHEK2:c.985del (p.Tyr329fs) CHEK2:c.985delT CHEK2:c.908+1_908+8delinsTT CHEK2:c.707+1_707+8delinsTT CHEK2:c.245+1_245+8delinsTT CHEK2:c.1037+1_1037+8delinsTT CHEK2:c.1347delT CHEK2:c.1476del (p.Glu493fs) CHEK2:c.684del (p.Glu229fs) CHEK2:c.1146del (p.Glu383fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.1260del (p.Glu421fs) CHEK2:c.1335_1336delCAinsAC CHEK2:c.1464_1465delinsAC (p.Tyr488_Asn489delinsTer) CHEK2:c.672_673delinsAC (p.Tyr224_Asn225delinsTer) CHEK2:c.1134_1135delinsAC (p.Tyr378_Asn379delinsTer) CHEK2:c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) CHEK2:c.1248_1249delinsAC (p.Tyr416_Asn417delinsTer) CHEK2:c.1049delC CHEK2:c.1178del (p.Pro393fs) CHEK2:c.386del (p.Pro129fs) CHEK2:c.848del (p.Pro283fs) CHEK2:c.1049del (p.Pro350fs) CHEK2:c.1009-1074del CHEK2:c.1019_1034del CHEK2:c.1148_1163del (p.Glu383fs) CHEK2:c.356_371del (p.Glu119fs) CHEK2:c.818_833del (p.Glu273fs) CHEK2:c.1019_1034del (p.Glu340fs) CHEK2:c.1009-1104_1009-1089del CHEK2:c.990del CHEK2:c.1119del (p.Met374fs) CHEK2:c.327del (p.Met110fs) CHEK2:c.789del (p.Met264fs) CHEK2:c.990del (p.Met331fs) CHEK2:c.655G>T CHEK2:c.784G>T (p.Glu262Ter) CHEK2:c.-9G>T CHEK2:c.655G>T (p.Glu219Ter) CHEK2:c.482+5463G>T CHEK2:c.537C>A (p.Tyr179Ter) CHEK2:c.-370C>A CHEK2:c.408C>A (p.Tyr136Ter) CHEK2:c.408C>A CHEK2:c.269delC CHEK2:c.269del (p.Pro90fs) CHEK2:c.-509del CHEK2:c.181delA CHEK2:c.181del (p.Ser61fs) CHEK2:c.-597del CHEK2:c.78_85delCCAGTCCC CHEK2:c.78_85del (p.Gln27fs) CHEK2:c.-700_-693del CHEK2:c.-747C>T CHEK2:c.31C>T (p.Gln11Ter) CHEK2:c.31C>T CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C CHEK2:c.319+1G>T CHEK2:c.-459+1G>T CHEK2:c.592+1G>A CHEK2:c.445-53G>A CHEK2:c.-186+1G>A CHEK2:c.721+1G>A CHEK2:c.1461+2delT CHEK2:c.1374+2del CHEK2:c.1260+2del CHEK2:c.1461+2del CHEK2:c.798+2del CHEK2:c.1590+2del CHEK2:c.1260-24_1263delCTTTCTCTCTCTACCAATATTAAGCCTT CHEK2:c.1173-24_1176del CHEK2:c.1059-24_1062del CHEK2:c.1260-24_1263del CHEK2:c.597-24_600del CHEK2:c.1389-24_1392del CHEK2:c.1344delT CHEK2:c.1473del (p.Pro492fs) CHEK2:c.681del (p.Pro228fs) CHEK2:c.1143del (p.Pro382fs) CHEK2:c.1344del (p.Pro449fs) CHEK2:c.1257del (p.Pro420fs) CHEK2:c.1334dupA CHEK2:c.1463dup (p.Tyr488Ter) CHEK2:c.671dup (p.Tyr224Ter) CHEK2:c.1133dup (p.Tyr378Ter) CHEK2:c.1334dup (p.Tyr445Ter) CHEK2:c.1247dup (p.Tyr416Ter) CHEK2:c.696dupA CHEK2:c.825dup (p.Glu276fs) CHEK2:c.33dup (p.Glu12fs) CHEK2:c.495dup (p.Glu166fs) CHEK2:c.696dup (p.Glu233fs) CHEK2:c.673delA CHEK2:c.802del (p.Thr268fs) CHEK2:c.10del (p.Thr4fs) CHEK2:c.673del (p.Thr225fs) CHEK2:c.482+5481del CHEK2:c.360delC CHEK2:c.489del (p.Cys164fs) CHEK2:c.-418del CHEK2:c.360del (p.Cys121fs) CHEK2:c.1288+1G>C CHEK2:c.1174+1G>C CHEK2:c.1375+1G>C CHEK2:c.712+1G>C CHEK2:c.1504+1G>C CHEK2:c.908+2T>C CHEK2:c.707+2T>C CHEK2:c.245+2T>C CHEK2:c.1037+2T>C CHEK2:c.1118dup CHEK2:c.1247dup (p.Ile417fs) CHEK2:c.455dup (p.Ile153fs) CHEK2:c.917dup (p.Ile307fs) CHEK2:c.1118dup (p.Ile374fs) CHEK2:c.1031dup (p.Ile345fs) CHEK2:c.948del CHEK2:c.1077del (p.Asn359fs) CHEK2:c.285del (p.Asn95fs) CHEK2:c.747del (p.Asn249fs) CHEK2:c.948del (p.Asn316fs) CHEK2:c.581del (p.Gly194fs) CHEK2:c.-326del CHEK2:c.452del (p.Gly151fs) CHEK2:c.444+126del CHEK2:c.452del CHEK2:c.397del CHEK2:c.526del (p.Thr176fs) CHEK2:c.-381del CHEK2:c.397del (p.Thr133fs) CHEK2:c.305del CHEK2:c.305del (p.Gly102fs) CHEK2:c.-473del CHEK2:c.291G>A CHEK2:c.291G>A (p.Trp97Ter) CHEK2:c.-487G>A CHEK2:c.234_262del CHEK2:c.234_262del (p.Gln78fs) CHEK2:c.-544_-516del CHEK2:c.199del CHEK2:c.199del (p.Ser67fs) CHEK2:c.-579del CHEK2:c.183del (p.Ser62fs) CHEK2:c.-595del CHEK2:c.183del CHEK2:c.1260-1G>T CHEK2:c.1173-1G>T CHEK2:c.1059-1G>T CHEK2:c.597-1G>T CHEK2:c.1389-1G>T CHEK2:c.1172T>G (p.Leu391Ter) CHEK2:c.380T>G (p.Leu127Ter) CHEK2:c.842T>G (p.Leu281Ter) CHEK2:c.1043T>G (p.Leu348Ter) CHEK2:c.1009-1080T>G CHEK2:c.1043T>G CHEK2:c.1430del CHEK2:c.1559del (p.Thr520fs) CHEK2:c.767del (p.Thr256fs) CHEK2:c.1430del (p.Thr477fs) CHEK2:c.1343del (p.Thr448fs) CHEK2:c.1371_1372del CHEK2:c.1500_1501del (p.Lys501fs) CHEK2:c.708_709del (p.Lys237fs) CHEK2:c.1170_1171del (p.Lys391fs) CHEK2:c.1371_1372del (p.Lys458fs) CHEK2:c.1284_1285del (p.Lys429fs) CHEK2:c.906del CHEK2:c.1035del (p.Glu345fs) CHEK2:c.243del (p.Glu81fs) CHEK2:c.705del (p.Glu235fs) CHEK2:c.906del (p.Glu302fs) CHEK2:c.842dup CHEK2:c.971dup (p.Asn324fs) CHEK2:c.179dup (p.Asn60fs) CHEK2:c.641dup (p.Asn214fs) CHEK2:c.842dup (p.Asn281fs) CHEK2:c.806_807del CHEK2:c.935_936del (p.Asn312fs) CHEK2:c.143_144del (p.Asn48fs) CHEK2:c.605_606del (p.Asn202fs) CHEK2:c.806_807del (p.Asn269fs) CHEK2:c.543_549del CHEK2:c.672_678del (p.Pro225fs) CHEK2:c.-235_-229del CHEK2:c.543_549del (p.Pro182fs) CHEK2:c.445-103_445-97del CHEK2:c.467dup CHEK2:c.596dup (p.Tyr199Ter) CHEK2:c.-311dup CHEK2:c.467dup (p.Tyr156Ter) CHEK2:c.444+141dup CHEK2:c.1419dup (p.Arg474Ter) CHEK2:c.627dup (p.Arg210Ter) CHEK2:c.1089dup (p.Arg364Ter) CHEK2:c.1290dup (p.Arg431Ter) CHEK2:c.1203dup (p.Arg402Ter) CHEK2:c.1290dup CHEK2:c.776del CHEK2:c.905del (p.Gly302fs) CHEK2:c.113del (p.Gly38fs) CHEK2:c.575del (p.Gly192fs) CHEK2:c.776del (p.Gly259fs) CHEK2:c.321_324del CHEK2:c.450_453del (p.Lys150_Cys151insTer) CHEK2:c.-457_-454del CHEK2:c.321_324del (p.Glu107_Cys108insTer) CHEK2:c.1485G>A CHEK2:c.1356G>A CHEK2:c.1485G>A (p.Trp495Ter) CHEK2:c.693G>A (p.Trp231Ter) CHEK2:c.1155G>A (p.Trp385Ter) CHEK2:c.1356G>A (p.Trp452Ter) CHEK2:c.1269G>A (p.Trp423Ter) CHEK2:c.1193del CHEK2:c.1322del (p.Ser441fs) CHEK2:c.530del (p.Ser177fs) CHEK2:c.992del (p.Ser331fs) CHEK2:c.1193del (p.Ser398fs) CHEK2:c.1106del (p.Ser369fs) CHEK2:c.1074del (p.Asn359fs) CHEK2:c.282del (p.Asn95fs) CHEK2:c.744del (p.Asn249fs) CHEK2:c.945del (p.Asn316fs) CHEK2:c.945del CHEK2:c.636T>G CHEK2:c.765T>G (p.Tyr255Ter) CHEK2:c.-28T>G CHEK2:c.636T>G (p.Tyr212Ter) CHEK2:c.482+5444T>G CHEK2:c.938del CHEK2:c.1067del (p.Val356fs) CHEK2:c.275del (p.Val92fs) CHEK2:c.737del (p.Val246fs) CHEK2:c.938del (p.Val313fs) CHEK2:c.684-2A>T CHEK2:c.483-2A>T CHEK2:c.21-2A>T CHEK2:c.813-2A>T CHEK2:c.1288+2T>C CHEK2:c.1174+2T>C CHEK2:c.1375+2T>C CHEK2:c.712+2T>C CHEK2:c.1504+2T>C CHEK2:c.847-12_847-2del CHEK2:c.646-12_646-2del CHEK2:c.184-12_184-2del CHEK2:c.976-12_976-2del CHEK2:c.593-2A>G CHEK2:c.482+5399A>G CHEK2:c.-71-2A>G CHEK2:c.722-2A>G CHEK2:c.1561G>T (p.Glu521Ter) CHEK2:c.769G>T (p.Glu257Ter) CHEK2:c.1231G>T (p.Glu411Ter) CHEK2:c.1432G>T (p.Glu478Ter) CHEK2:c.1345G>T (p.Glu449Ter) CHEK2:c.1549del (p.Arg517fs) CHEK2:c.757del (p.Arg253fs) CHEK2:c.1219del (p.Arg407fs) CHEK2:c.1420del (p.Arg474fs) CHEK2:c.1333del (p.Arg445fs) CHEK2:c.1461del (p.Lys487fs) CHEK2:c.669del (p.Lys223fs) CHEK2:c.1131del (p.Lys377fs) CHEK2:c.1332del (p.Lys444fs) CHEK2:c.1245del (p.Lys415fs) CHEK2:c.1375dup (p.Ile459fs) CHEK2:c.583dup (p.Ile195fs) CHEK2:c.1045dup (p.Ile349fs) CHEK2:c.1246dup (p.Ile416fs) CHEK2:c.1159dup (p.Ile387fs) CHEK2:c.1097_1098del (p.Thr366fs) CHEK2:c.305_306del (p.Thr102fs) CHEK2:c.767_768del (p.Thr256fs) CHEK2:c.968_969del (p.Thr323fs) CHEK2:c.959T>A (p.Leu320Ter) CHEK2:c.167T>A (p.Leu56Ter) CHEK2:c.629T>A (p.Leu210Ter) CHEK2:c.830T>A (p.Leu277Ter) CHEK2:c.916G>T (p.Glu306Ter) CHEK2:c.124G>T (p.Glu42Ter) CHEK2:c.586G>T (p.Glu196Ter) CHEK2:c.787G>T (p.Glu263Ter) CHEK2:c.879del (p.Ile294fs) CHEK2:c.87del (p.Ile30fs) CHEK2:c.549del (p.Ile184fs) CHEK2:c.750del (p.Ile251fs) CHEK2:c.847del (p.Arg283fs) CHEK2:c.55del (p.Arg19fs) CHEK2:c.517del (p.Arg173fs) CHEK2:c.718del (p.Arg240fs) CHEK2:c.793_805del (p.Met265fs) CHEK2:c.1_13del (p.Met1fs) CHEK2:c.664_676del (p.Met222fs) CHEK2:c.482+5472_482+5484del CHEK2:c.792_793insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met265fs) CHEK2:c.-1_1insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met1fs) CHEK2:c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) CHEK2:c.482+5471_482+5472insAAGAGATGAATACATCGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAA CHEK2:c.787dup (p.Tyr263fs) CHEK2:c.-6dup CHEK2:c.658dup (p.Tyr220fs) CHEK2:c.482+5466dup CHEK2:c.677del (p.Pro225_Leu226insTer) CHEK2:c.-230del CHEK2:c.548del (p.Pro182_Leu183insTer) CHEK2:c.445-98del CHEK2:c.674dup (p.Leu226fs) CHEK2:c.-233dup CHEK2:c.545dup (p.Leu183fs) CHEK2:c.445-102dup CHEK2:c.600del (p.Ile200fs) CHEK2:c.-307del CHEK2:c.471del (p.Ile157fs) CHEK2:c.444+145del CHEK2:c.478del (p.Arg160fs) CHEK2:c.-429del CHEK2:c.349del (p.Arg117fs) CHEK2:c.82del (p.Ser28fs) CHEK2:c.-696del CHEK2:c.55del (p.Ser19fs) CHEK2:c.-723del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.895-2A>G CHEK2:c.1096-2A>G CHEK2:c.433-2A>G CHEK2:c.1225-2A>G CHEK2:c.903_908+26del CHEK2:c.702_707+26del CHEK2:c.240_245+26del CHEK2:c.1032_1037+26del CHEK2:c.624_625insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn209fs) CHEK2:c.-298_-283AGA[2]TCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC[1] CHEK2:c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) CHEK2:c.445-151_445-150insAGAAGATCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAA CHEK2:c.1252_1253del (p.Leu418fs) CHEK2:c.460_461del (p.Leu154fs) CHEK2:c.922_923del (p.Leu308fs) CHEK2:c.1123_1124del (p.Leu375fs) CHEK2:c.1036_1037del (p.Leu346fs) CHEK2:c.1143_1165dup (p.Arg389fs) CHEK2:c.351_373dup (p.Arg125fs) CHEK2:c.813_835dup (p.Arg279fs) CHEK2:c.1014_1036dup (p.Arg346fs) CHEK2:c.1009-1109_1009-1087dup CHEK2:c.633del (p.Phe212fs) CHEK2:c.-274del CHEK2:c.504del (p.Phe169fs) CHEK2:c.445-142del CHEK2:c.676_677del (p.Leu226fs) CHEK2:c.-231_-230del CHEK2:c.547_548del (p.Leu183fs) CHEK2:c.445-99_445-98del CHEK2:c.6_10delTCGGG CHEK2:c.6_10del (p.Arg3fs) CHEK2:c.-772_-768del CHEK2:c.445-8_446del CHEK2:c.444+111_444+120del CHEK2:c.-333-8_-332del CHEK2:c.574-8_575del CHEK2:c.1021del (p.Tyr341fs) CHEK2:c.229del (p.Tyr77fs) CHEK2:c.691del (p.Tyr231fs) CHEK2:c.892del (p.Tyr298fs) CHEK2:c.1338_1362dup (p.Ser455delinsValTer) CHEK2:c.546_570dup (p.Ser191delinsValTer) CHEK2:c.1008_1032dup (p.Ser345delinsValTer) CHEK2:c.1209_1233dup (p.Ser412delinsValTer) CHEK2:c.1122_1146dup (p.Ser383delinsValTer) CHEK2:c.320-2A>G CHEK2:c.-458-2A>G CHEK2:c.449-2A>G CHEK2:c.1159del (p.Ile387fs) CHEK2:c.367del (p.Ile123fs) CHEK2:c.829del (p.Ile277fs) CHEK2:c.1030del (p.Ile344fs) CHEK2:c.1009-1093del CHEK2:c.46_61del (p.Ser16fs) CHEK2:c.-732_-717del CHEK2:c.1443del (p.Gln482fs) CHEK2:c.651del (p.Gln218fs) CHEK2:c.1113del (p.Gln372fs) CHEK2:c.1314del (p.Gln439fs) CHEK2:c.1227del (p.Gln410fs) CHEK2:c.94del (p.Ser32fs) CHEK2:c.-684del CHEK2:c.408C>G CHEK2:c.537C>G (p.Tyr179Ter) CHEK2:c.-370C>G CHEK2:c.408C>G (p.Tyr136Ter) CHEK2:c.1464C>A (p.Tyr488Ter) CHEK2:c.672C>A (p.Tyr224Ter) CHEK2:c.1134C>A (p.Tyr378Ter) CHEK2:c.1335C>A (p.Tyr445Ter) CHEK2:c.1248C>A (p.Tyr416Ter) CHEK2:c.16delG CHEK2:c.16del (p.Asp6fs) CHEK2:c.-762del CHEK2:c.1190T>A (p.Leu397Ter) CHEK2:c.398T>A (p.Leu133Ter) CHEK2:c.860T>A (p.Leu287Ter) CHEK2:c.1061T>A (p.Leu354Ter) CHEK2:c.1009-1062T>A CHEK2:c.492T>A (p.Cys164Ter) CHEK2:c.-415T>A CHEK2:c.363T>A (p.Cys121Ter) CHEK2:c.1009-1026T>C CHEK2:c.894+2T>C CHEK2:c.1095+2T>C CHEK2:c.432+2T>C CHEK2:c.1224+2T>C CHEK2:c.205C>T CHEK2:c.205C>T (p.Gln69Ter) CHEK2:c.-573C>T CHEK2:c.1337delA CHEK2:c.1466del (p.Asn489fs) CHEK2:c.674del (p.Asn225fs) CHEK2:c.1136del (p.Asn379fs) CHEK2:c.1337del (p.Asn446fs) CHEK2:c.1250del (p.Asn417fs) CHEK2:c.894T>G CHEK2:c.1023T>G (p.Tyr341Ter) CHEK2:c.231T>G (p.Tyr77Ter) CHEK2:c.693T>G (p.Tyr231Ter) CHEK2:c.894T>G (p.Tyr298Ter) CHEK2:c.876delT CHEK2:c.1005del (p.Phe335fs) CHEK2:c.213del (p.Phe71fs) CHEK2:c.675del (p.Phe225fs) CHEK2:c.876del (p.Phe292fs) CHEK2:c.1459C>T CHEK2:c.1588C>T (p.Gln530Ter) CHEK2:c.796C>T (p.Gln266Ter) CHEK2:c.1258C>T (p.Gln420Ter) CHEK2:c.1459C>T (p.Gln487Ter) CHEK2:c.1372C>T (p.Gln458Ter) CHEK2:c.1188delT CHEK2:c.1317del (p.Val440fs) CHEK2:c.525del (p.Val176fs) CHEK2:c.987del (p.Val330fs) CHEK2:c.1188del (p.Val397fs) CHEK2:c.1101del (p.Val368fs) CHEK2:c.847-1G>A CHEK2:c.646-1G>A CHEK2:c.184-1G>A CHEK2:c.976-1G>A CHEK2:c.683+1G>A CHEK2:c.482+5492G>A CHEK2:c.20+1G>A CHEK2:c.812+1G>A CHEK2:c.902T>A CHEK2:c.1031T>A (p.Leu344Ter) CHEK2:c.239T>A (p.Leu80Ter) CHEK2:c.701T>A (p.Leu234Ter) CHEK2:c.902T>A (p.Leu301Ter) CHEK2:c.860delA CHEK2:c.989del (p.Lys330fs) CHEK2:c.197del (p.Lys66fs) CHEK2:c.659del (p.Lys220fs) CHEK2:c.860del (p.Lys287fs) CHEK2:c.823delG CHEK2:c.952del (p.Glu318fs) CHEK2:c.160del (p.Glu54fs) CHEK2:c.622del (p.Glu208fs) CHEK2:c.823del (p.Glu275fs) CHEK2:c.28C>T CHEK2:c.28C>T (p.Gln10Ter) CHEK2:c.-750C>T CHEK2:c.1164dupC CHEK2:c.1293dup (p.Thr432fs) CHEK2:c.501dup (p.Thr168fs) CHEK2:c.963dup (p.Thr322fs) CHEK2:c.1164dup (p.Thr389fs) CHEK2:c.1077dup (p.Thr360fs) CHEK2:c.1259+1G>T CHEK2:c.1172+1G>T CHEK2:c.1058+1G>T CHEK2:c.596+1G>T CHEK2:c.1388+1G>T CHEK2:c.846+1G>A CHEK2:c.645+1G>A CHEK2:c.183+1G>A CHEK2:c.975+1G>A CHEK2:c.232C>T CHEK2:c.232C>T (p.Gln78Ter) CHEK2:c.-546C>T CHEK2:c.1240G>T CHEK2:c.1369G>T (p.Gly457Ter) CHEK2:c.577G>T (p.Gly193Ter) CHEK2:c.1039G>T (p.Gly347Ter) CHEK2:c.1240G>T (p.Gly414Ter) CHEK2:c.1153G>T (p.Gly385Ter) CHEK2:c.152_155dup CHEK2:c.152_155dup (p.Ser53fs) CHEK2:c.-626_-623dup CHEK2:c.577_578delCT CHEK2:c.706_707del (p.Leu236fs) CHEK2:c.-201_-200del CHEK2:c.577_578del (p.Leu193fs) CHEK2:c.445-69_445-68del CHEK2:c.1451delC CHEK2:c.1580del (p.Pro527fs) CHEK2:c.788del (p.Pro263fs) CHEK2:c.1250del (p.Pro417fs) CHEK2:c.1451del (p.Pro484fs) CHEK2:c.1364del (p.Pro455fs) CHEK2:c.1008+2T>G CHEK2:c.807+2T>G CHEK2:c.345+2T>G CHEK2:c.1137+2T>G CHEK2:c.133delA CHEK2:c.133del (p.Thr45fs) CHEK2:c.-645del CHEK2:c.319+1G>A CHEK2:c.-459+1G>A CHEK2:c.433delC CHEK2:c.562del (p.Arg188fs) CHEK2:c.-345del CHEK2:c.433del (p.Arg145fs) CHEK2:c.893_897delATATT CHEK2:c.1022_1026del (p.Tyr341fs) CHEK2:c.230_234del (p.Tyr77fs) CHEK2:c.692_696del (p.Tyr231fs) CHEK2:c.893_897del (p.Tyr298fs) CHEK2:c.1564G>T (p.Glu522Ter) CHEK2:c.772G>T (p.Glu258Ter) CHEK2:c.1234G>T (p.Glu412Ter) CHEK2:c.1435G>T (p.Glu479Ter) CHEK2:c.1348G>T (p.Glu450Ter) CHEK2:c.1435G>T CHEK2:c.909-1G>A CHEK2:c.708-1G>A CHEK2:c.246-1G>A CHEK2:c.1038-1G>A CHEK2:c.1209_1233del CHEK2:c.1338_1362del (p.Tyr447fs) CHEK2:c.546_570del (p.Tyr183fs) CHEK2:c.1008_1032del (p.Tyr337fs) CHEK2:c.1209_1233del (p.Tyr404fs) CHEK2:c.1122_1146del (p.Tyr375fs) CHEK2:c.606dup CHEK2:c.735dup (p.Asp246Ter) CHEK2:c.-58dup CHEK2:c.606dup (p.Asp203Ter) CHEK2:c.482+5409dup CHEK2:c.735dupT CHEK2:c.100C>T CHEK2:c.100C>T (p.Gln34Ter) CHEK2:c.-678C>T CHEK2:c.1461+1G>T CHEK2:c.1374+1G>T CHEK2:c.1260+1G>T CHEK2:c.798+1G>T CHEK2:c.1590+1G>T CHEK2:c.706delC CHEK2:c.835del (p.Leu279fs) CHEK2:c.43del (p.Leu15fs) CHEK2:c.505del (p.Leu169fs) CHEK2:c.706del (p.Leu236fs) CHEK2:c.1009-1G>A CHEK2:c.1009-1115G>A CHEK2:c.808-1G>A CHEK2:c.346-1G>A CHEK2:c.1138-1G>A CHEK2:c.1108dup (p.Tyr370fs) CHEK2:c.316dup (p.Tyr106fs) CHEK2:c.778dup (p.Tyr260fs) CHEK2:c.979dup (p.Tyr327fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) CHEK2:c.79C>T CHEK2:c.79C>T (p.Gln27Ter) CHEK2:c.-699C>T CHEK2:c.118_133delAGCTCCTCTACCAGCA CHEK2:c.118_133del (p.Ser40fs) CHEK2:c.-660_-645del CHEK2:c.1465G>T CHEK2:c.1594G>T (p.Glu532Ter) CHEK2:c.802G>T (p.Glu268Ter) CHEK2:c.1264G>T (p.Glu422Ter) CHEK2:c.1465G>T (p.Glu489Ter) CHEK2:c.1378G>T (p.Glu460Ter) CHEK2:c.400_401del CHEK2:c.529_530del (p.Thr176_Asp177insTer) CHEK2:c.-378_-377del CHEK2:c.400_401del (p.Thr133_Asp134insTer) CHEK2:c.621delT CHEK2:c.750del (p.Asp250fs) CHEK2:c.-43del CHEK2:c.621del (p.Asp207fs) CHEK2:c.482+5429del CHEK2:c.792_792+1delAG CHEK2:c.792_792+1del CHEK2:c.591_591+1del CHEK2:c.129_129+1del CHEK2:c.921_921+1del CHEK2:c.1095+2T>G CHEK2:c.1009-1026T>G CHEK2:c.894+2T>G CHEK2:c.432+2T>G CHEK2:c.1224+2T>G CHEK2:c.988C>T CHEK2:c.1117C>T (p.Gln373Ter) CHEK2:c.325C>T (p.Gln109Ter) CHEK2:c.787C>T (p.Gln263Ter) CHEK2:c.988C>T (p.Gln330Ter) CHEK2:c.445-2A>G CHEK2:c.444+117A>G CHEK2:c.-333-2A>G CHEK2:c.574-2A>G CHEK2:c.575C>A CHEK2:c.704C>A (p.Ser235Ter) CHEK2:c.-203C>A CHEK2:c.575C>A (p.Ser192Ter) CHEK2:c.445-71C>A CHEK2:c.252del (p.Glu84fs) CHEK2:c.-526del CHEK2:c.252del CHEK2:c.605_606delTT CHEK2:c.734_735del (p.Phe244_Phe245insTer) CHEK2:c.-59_-58del CHEK2:c.605_606del (p.Phe201_Phe202insTer) CHEK2:c.482+5413_482+5414del CHEK2:c.578del (p.Val193fs) CHEK2:c.-329del CHEK2:c.449del (p.Val150fs) CHEK2:c.444+123del CHEK2:c.449del CHEK2:c.1375+1G>A CHEK2:c.1288+1G>A CHEK2:c.1174+1G>A CHEK2:c.712+1G>A CHEK2:c.1504+1G>A CHEK2:c.1230C>A CHEK2:c.1359C>A (p.Cys453Ter) CHEK2:c.567C>A (p.Cys189Ter) CHEK2:c.1029C>A (p.Cys343Ter) CHEK2:c.1230C>A (p.Cys410Ter) CHEK2:c.1143C>A (p.Cys381Ter) CHEK2:c.995del CHEK2:c.1124del (p.Leu375fs) CHEK2:c.332del (p.Leu111fs) CHEK2:c.794del (p.Leu265fs) CHEK2:c.995del (p.Leu332fs) CHEK2:c.989del CHEK2:c.1118del (p.Gln373fs) CHEK2:c.326del (p.Gln109fs) CHEK2:c.788del (p.Gln263fs) CHEK2:c.989del (p.Gln330fs) CHEK2:c.763A>T CHEK2:c.892A>T (p.Lys298Ter) CHEK2:c.100A>T (p.Lys34Ter) CHEK2:c.562A>T (p.Lys188Ter) CHEK2:c.763A>T (p.Lys255Ter) CHEK2:c.788_791del (p.Tyr263fs) CHEK2:c.-5_-2del CHEK2:c.659_662del (p.Tyr220fs) CHEK2:c.482+5467_482+5470del CHEK2:c.659_662del CHEK2:c.194_195del CHEK2:c.194_195del (p.Thr65fs) CHEK2:c.-584_-583del CHEK2:c.159_160del CHEK2:c.159_160del (p.His54fs) CHEK2:c.-621TC[1] CHEK2:c.1400del CHEK2:c.1529del (p.Leu510fs) CHEK2:c.737del (p.Leu246fs) CHEK2:c.1199del (p.Leu400fs) CHEK2:c.1400del (p.Leu467fs) CHEK2:c.1313del (p.Leu438fs) CHEK2:c.1489_1490del (p.Glu497fs) CHEK2:c.697_698del (p.Glu233fs) CHEK2:c.1159_1160del (p.Glu387fs) CHEK2:c.1360_1361del (p.Glu454fs) CHEK2:c.1273_1274del (p.Glu425fs) CHEK2:c.1360_1361del CHEK2:c.1067C>G CHEK2:c.1196C>G (p.Ser399Ter) CHEK2:c.404C>G (p.Ser135Ter) CHEK2:c.866C>G (p.Ser289Ter) CHEK2:c.1067C>G (p.Ser356Ter) CHEK2:c.1009-1056C>G CHEK2:c.186del CHEK2:c.186del (p.Ser62_Leu63insTer) CHEK2:c.-592del CHEK2:c.444_444+1del CHEK2:c.-334_-334+1del CHEK2:c.573_573+1del CHEK2:c.792+2T>G CHEK2:c.591+2T>G CHEK2:c.129+2T>G CHEK2:c.921+2T>G CHEK2:c.1348G>T CHEK2:c.1477G>T (p.Glu493Ter) CHEK2:c.685G>T (p.Glu229Ter) CHEK2:c.1147G>T (p.Glu383Ter) CHEK2:c.1261G>T (p.Glu421Ter) CHEK2:c.1210_1219del CHEK2:c.1339_1348del (p.Tyr447fs) CHEK2:c.547_556del (p.Tyr183fs) CHEK2:c.1009_1018del (p.Tyr337fs) CHEK2:c.1210_1219del (p.Tyr404fs) CHEK2:c.1123_1132del (p.Tyr375fs) CHEK2:c.870_871insCTAC CHEK2:c.999_1000insCTAC (p.Phe334fs) CHEK2:c.207_208insCTAC (p.Phe70fs) CHEK2:c.669_670insCTAC (p.Phe224fs) CHEK2:c.870_871insCTAC (p.Phe291fs) CHEK2:c.862_865del (p.Lys287_Lys288insTer) CHEK2:c.70_73del (p.Lys23_Lys24insTer) CHEK2:c.532_535del (p.Lys177_Lys178insTer) CHEK2:c.733_736del (p.Lys244_Lys245insTer) CHEK2:c.733_736del CHEK2:c.267_268insT CHEK2:c.267_268insT (p.Pro90fs) CHEK2:c.-511_-510insT CHEK2:c.98C>A CHEK2:c.98C>A (p.Ser33Ter) CHEK2:c.-680C>A CHEK2:c.733A>T CHEK2:c.862A>T (p.Lys288Ter) CHEK2:c.70A>T (p.Lys24Ter) CHEK2:c.532A>T (p.Lys178Ter) CHEK2:c.733A>T (p.Lys245Ter) CHEK2:c.209_216del (p.Glu70fs) CHEK2:c.-569_-562del CHEK2:c.209_216del CHEK2:c.684-5_684-2delinsC CHEK2:c.483-5_483-2delinsC CHEK2:c.21-5_21-2delinsC CHEK2:c.813-5_813-2delinsC CHEK2:c.1210_1211insTT CHEK2:c.1339_1340insTT (p.Tyr447fs) CHEK2:c.547_548insTT (p.Tyr183fs) CHEK2:c.1009_1010insTT (p.Tyr337fs) CHEK2:c.1210_1211insTT (p.Tyr404fs) CHEK2:c.1123_1124insTT (p.Tyr375fs) CHEK2:c.726_727del CHEK2:c.855_856del (p.Thr285_Cys286insTer) CHEK2:c.63_64del (p.Thr21_Cys22insTer) CHEK2:c.525_526del (p.Thr175_Cys176insTer) CHEK2:c.726_727del (p.Thr242_Cys243insTer) CHEK2:c.666del (p.Lys222fs) CHEK2:c.-241del CHEK2:c.537del (p.Lys179fs) CHEK2:c.445-109del CHEK2:c.537del CHEK2:c.597C>G CHEK2:c.468C>G CHEK2:c.597C>G (p.Tyr199Ter) CHEK2:c.-310C>G CHEK2:c.444+142C>G CHEK2:c.803_804del CHEK2:c.932_933del (p.Leu311fs) CHEK2:c.140_141del (p.Leu47fs) CHEK2:c.602_603del (p.Leu201fs) CHEK2:c.803_804del (p.Leu268fs) CHEK2:c.792+2T>A CHEK2:c.591+2T>A CHEK2:c.129+2T>A CHEK2:c.921+2T>A CHEK2:c.1050del CHEK2:c.1179del (p.Glu394fs) CHEK2:c.387del (p.Glu130fs) CHEK2:c.849del (p.Glu284fs) CHEK2:c.1050del (p.Glu351fs) CHEK2:c.1009-1073del CHEK2:c.1092del (p.Ala365fs) CHEK2:c.300del (p.Ala101fs) CHEK2:c.762del (p.Ala255fs) CHEK2:c.963del (p.Ala322fs) CHEK2:c.963del CHEK2:c.391A>T CHEK2:c.520A>T (p.Lys174Ter) CHEK2:c.-387A>T CHEK2:c.391A>T (p.Lys131Ter) CHEK2:c.64del CHEK2:c.64del (p.His22fs) CHEK2:c.-714del CHEK2:c.684-1del CHEK2:c.483-1del CHEK2:c.21-1del CHEK2:c.813-1del CHEK2:c.1584G>A (p.Trp528Ter) CHEK2:c.792G>A (p.Trp264Ter) CHEK2:c.1254G>A (p.Trp418Ter) CHEK2:c.1455G>A (p.Trp485Ter) CHEK2:c.1368G>A (p.Trp456Ter) CHEK2:c.1400T>A CHEK2:c.1529T>A (p.Leu510Ter) CHEK2:c.737T>A (p.Leu246Ter) CHEK2:c.1199T>A (p.Leu400Ter) CHEK2:c.1400T>A (p.Leu467Ter) CHEK2:c.1313T>A (p.Leu438Ter) CHEK2:c.1496C>G (p.Ser499Ter) CHEK2:c.704C>G (p.Ser235Ter) CHEK2:c.1166C>G (p.Ser389Ter) CHEK2:c.1367C>G (p.Ser456Ter) CHEK2:c.1280C>G (p.Ser427Ter) CHEK2:c.1491del (p.Val498fs) CHEK2:c.699del (p.Val234fs) CHEK2:c.1161del (p.Val388fs) CHEK2:c.1362del (p.Val455fs) CHEK2:c.1275del (p.Val426fs) CHEK2:c.1393dup (p.Ser465fs) CHEK2:c.601dup (p.Ser201fs) CHEK2:c.1063dup (p.Ser355fs) CHEK2:c.1264dup (p.Ser422fs) CHEK2:c.1177dup (p.Ser393fs) CHEK2:c.1377del (p.Leu460fs) CHEK2:c.585del (p.Leu196fs) CHEK2:c.1047del (p.Leu350fs) CHEK2:c.1248del (p.Leu417fs) CHEK2:c.1161del (p.Leu388fs) CHEK2:c.1196_1206del (p.Leu398_Ser399insTer) CHEK2:c.404_414del (p.Leu134_Ser135insTer) CHEK2:c.866_876del (p.Leu288_Ser289insTer) CHEK2:c.1067_1077del (p.Leu355_Ser356insTer) CHEK2:c.1009-1056_1009-1046del CHEK2:c.1048G>T (p.Gly350Ter) CHEK2:c.256G>T (p.Gly86Ter) CHEK2:c.718G>T (p.Gly240Ter) CHEK2:c.919G>T (p.Gly307Ter) CHEK2:c.897dup (p.Ala300fs) CHEK2:c.105dup (p.Ala36fs) CHEK2:c.567dup (p.Ala190fs) CHEK2:c.768dup (p.Ala257fs) CHEK2:c.853del (p.Thr285fs) CHEK2:c.61del (p.Thr21fs) CHEK2:c.523del (p.Thr175fs) CHEK2:c.724del (p.Thr242fs) CHEK2:c.797_798insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser266_Lys267insTer) CHEK2:c.5_6insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser2_Lys3insTer) CHEK2:c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) CHEK2:c.482+5476_482+5477insTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTCT CHEK2:c.793del (p.Met265fs) CHEK2:c.1del (p.Met1fs) CHEK2:c.664del (p.Met222fs) CHEK2:c.482+5472del CHEK2:c.631del (p.Thr211fs) CHEK2:c.-276del CHEK2:c.502del (p.Thr168fs) CHEK2:c.445-144del CHEK2:c.598del (p.Ile200fs) CHEK2:c.-309del CHEK2:c.469del (p.Ile157fs) CHEK2:c.444+143del CHEK2:c.529_532del (p.Asp177fs) CHEK2:c.-378_-375del CHEK2:c.400_403del (p.Asp134fs) CHEK2:c.488del (p.Ser163fs) CHEK2:c.-419del CHEK2:c.359del (p.Ser120fs) CHEK2:c.33del (p.Gln11fs) CHEK2:c.-745del CHEK2:c.684-2A>G CHEK2:c.483-2A>G CHEK2:c.21-2A>G CHEK2:c.813-2A>G CHEK2:c.1284T>A (p.Cys428Ter) CHEK2:c.954T>A (p.Cys318Ter) CHEK2:c.1155T>A (p.Cys385Ter) CHEK2:c.1068T>A (p.Cys356Ter) CHEK2:c.1048_1049del (p.Gly350fs) CHEK2:c.256_257del (p.Gly86fs) CHEK2:c.718_719del (p.Gly240fs) CHEK2:c.919_920del (p.Gly307fs) CHEK2:c.788_789delAG CHEK2:c.917_918del (p.Glu306fs) CHEK2:c.125_126del (p.Glu42fs) CHEK2:c.587_588del (p.Glu196fs) CHEK2:c.788_789del (p.Glu263fs) CHEK2:c.233_234del (p.Gln78fs) CHEK2:c.-545_-544del CHEK2:c.222del (p.Pro75fs) CHEK2:c.-556del CHEK2:c.106C>T CHEK2:c.106C>T (p.Gln36Ter) CHEK2:c.-672C>T CHEK2:c.41del (p.Gly14fs) CHEK2:c.-737del CHEK2:c.1330_1334del (p.Thr444fs) CHEK2:c.538_542del (p.Thr180fs) CHEK2:c.1000_1004del (p.Thr334fs) CHEK2:c.1201_1205del (p.Thr401fs) CHEK2:c.1114_1118del (p.Thr372fs) CHEK2:c.1470del (p.Phe490fs) CHEK2:c.678del (p.Phe226fs) CHEK2:c.1140del (p.Phe380fs) CHEK2:c.1341del (p.Phe447fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1306delC CHEK2:c.1435del (p.Ser478_Leu479insTer) CHEK2:c.643del (p.Ser214_Leu215insTer) CHEK2:c.1105del (p.Ser368_Leu369insTer) CHEK2:c.1306del (p.Ser435_Leu436insTer) CHEK2:c.1219del (p.Ser406_Leu407insTer) CHEK2:c.1375del (p.Ile459fs) CHEK2:c.583del (p.Ile195fs) CHEK2:c.1045del (p.Ile349fs) CHEK2:c.1246del (p.Ile416fs) CHEK2:c.1227_1237dup (p.Gly413fs) CHEK2:c.435_445dup (p.Gly149fs) CHEK2:c.897_907dup (p.Gly303fs) CHEK2:c.1098_1108dup (p.Gly370fs) CHEK2:c.1011_1021dup (p.Gly341fs) CHEK2:c.891_908+3del CHEK2:c.690_707+3del CHEK2:c.228_245+3del CHEK2:c.1020_1037+3del CHEK2:c.188del (p.Ser62_Leu63insTer) CHEK2:c.-590del CHEK2:c.903_904del (p.Ile301fs) CHEK2:c.111_112del (p.Ile37fs) CHEK2:c.573_574del (p.Ile191fs) CHEK2:c.774_775del (p.Ile258fs) CHEK2:c.1127T>A (p.Leu376Ter) CHEK2:c.335T>A (p.Leu112Ter) CHEK2:c.797T>A (p.Leu266Ter) CHEK2:c.998T>A (p.Leu333Ter) CHEK2:c.32_35del (p.Gln11fs) CHEK2:c.-746_-743del CHEK2:c.1048_1069del (p.Gly350fs) CHEK2:c.256_277del (p.Gly86fs) CHEK2:c.718_739del (p.Gly240fs) CHEK2:c.919_940del (p.Gly307fs) CHEK2:c.1175dup (p.Pro393fs) CHEK2:c.383dup (p.Pro129fs) CHEK2:c.845dup (p.Pro283fs) CHEK2:c.1046dup (p.Pro350fs) CHEK2:c.1009-1077dup CHEK2:c.1299del (p.Leu434fs) CHEK2:c.507del (p.Leu170fs) CHEK2:c.969del (p.Leu324fs) CHEK2:c.1170del (p.Leu391fs) CHEK2:c.1083del (p.Leu362fs) CHEK2:c.490del (p.Cys164fs) CHEK2:c.-417del CHEK2:c.361del (p.Cys121fs) CHEK2:c.872dup (p.Ile293fs) CHEK2:c.80dup (p.Ile29fs) CHEK2:c.542dup (p.Ile183fs) CHEK2:c.743dup (p.Ile250fs) CHEK2:c.889del (p.Arg297fs) CHEK2:c.97del (p.Arg33fs) CHEK2:c.559del (p.Arg187fs) CHEK2:c.760del (p.Arg254fs) CHEK2:c.866_911dup (p.Arg305fs) CHEK2:c.74_119dup (p.Arg41fs) CHEK2:c.536_581dup (p.Arg195fs) CHEK2:c.737_782dup (p.Arg262fs) CHEK2:c.1125_1135del (p.Leu376fs) CHEK2:c.333_343del (p.Leu112fs) CHEK2:c.795_805del (p.Leu266fs) CHEK2:c.996_1006del (p.Leu333fs) CHEK2:c.1493dup (p.Ser499fs) CHEK2:c.701dup (p.Ser235fs) CHEK2:c.1163dup (p.Ser389fs) CHEK2:c.1364dup (p.Ser456fs) CHEK2:c.1277dup (p.Ser427fs) CHEK2:c.557delA CHEK2:c.686del (p.Asn229fs) CHEK2:c.-221del CHEK2:c.557del (p.Asn186fs) CHEK2:c.445-89del CHEK2:c.1508del (p.Leu503fs) CHEK2:c.716del (p.Leu239fs) CHEK2:c.1178del (p.Leu393fs) CHEK2:c.1379del (p.Leu460fs) CHEK2:c.1292del (p.Leu431fs) CHEK2:c.1472_1473del (p.Ile491fs) CHEK2:c.680_681del (p.Ile227fs) CHEK2:c.1142_1143del (p.Ile381fs) CHEK2:c.1343_1344del (p.Ile448fs) CHEK2:c.1256_1257del (p.Ile419fs) CHEK2:c.589_617dup (p.His206delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.-318_-290dup CHEK2:c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.444+134_445-158dup CHEK2:c.577_590del (p.Val193fs) CHEK2:c.-330_-317del CHEK2:c.448_461del (p.Val150fs) CHEK2:c.444+122_444+135del CHEK2:c.471G>A (p.Trp157Ter) CHEK2:c.-436G>A CHEK2:c.342G>A (p.Trp114Ter) CHEK2:c.776dupG CHEK2:c.905dup (p.Ser303fs) CHEK2:c.113dup (p.Ser39fs) CHEK2:c.575dup (p.Ser193fs) CHEK2:c.776dup (p.Ser260fs) CHEK2:c.773del (p.Ala258fs) CHEK2:c.-20del CHEK2:c.644del (p.Ala215fs) CHEK2:c.482+5452del CHEK2:c.1009-1026T>A CHEK2:c.894+2T>A CHEK2:c.1095+2T>A CHEK2:c.432+2T>A CHEK2:c.1224+2T>A CHEK2:c.1222_1223dup (p.Ile409fs) CHEK2:c.430_431dup (p.Ile145fs) CHEK2:c.892_893dup (p.Ile299fs) CHEK2:c.1093_1094dup (p.Ile366fs) CHEK2:c.1009-1030_1009-1029dup CHEK2:c.908del (p.Gly302_Ser303insTer) CHEK2:c.116del (p.Gly38_Ser39insTer) CHEK2:c.578del (p.Gly192_Ser193insTer) CHEK2:c.779del (p.Gly259_Ser260insTer) CHEK2:c.1245del (p.Lys416fs) CHEK2:c.453del (p.Lys152fs) CHEK2:c.915del (p.Lys306fs) CHEK2:c.1116del (p.Lys373fs) CHEK2:c.1029del (p.Lys344fs) CHEK2:c.1581del (p.Trp528fs) CHEK2:c.789del (p.Trp264fs) CHEK2:c.1251del (p.Trp418fs) CHEK2:c.1452del (p.Trp485fs) CHEK2:c.1365del (p.Trp456fs) CHEK2:c.683+2T>A CHEK2:c.482+5493T>A CHEK2:c.20+2T>A CHEK2:c.812+2T>A CHEK2:c.79del (p.Gln27fs) CHEK2:c.-699del CHEK2:c.1531delG CHEK2:c.1660del (p.Val554fs) CHEK2:c.868del (p.Val290fs) CHEK2:c.1330del (p.Val444fs) CHEK2:c.1531del (p.Val511fs) CHEK2:c.1444del (p.Val482fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.607del (p.Tyr202_Ile203insTer) CHEK2:c.-300del CHEK2:c.478del (p.Tyr159_Ile160insTer) CHEK2:c.444+152del CHEK2:c.478delA CHEK2:c.56C>G (p.Ser19Ter) CHEK2:c.-722C>G CHEK2:c.56C>G CHEK2:c.269dup CHEK2:c.269dup (p.Ala91fs) CHEK2:c.-509dup CHEK2:c.597delT CHEK2:c.726del (p.Phe242fs) CHEK2:c.-67del CHEK2:c.597del (p.Phe199fs) CHEK2:c.482+5405del | premature stop missense mutation | A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. Hereditary cancer in clinical practice:2014 | ||||
BRCA1 gene CHEK2 gene ATM gene | Thyroid carcinoma Papillary thyroid carcinoma | 1781 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G | Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma. Genes, chromosomes & cancer:2014 | ||||||
CHEK2 gene | Papillary thyroid carcinoma Thyroid carcinoma Breast Carcinoma multi-organ cancer | 468 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop missense mutation | CHEK2 mutations and the risk of papillary thyroid cancer. International journal of cancer:2015 | ||||
BRCA1 gene RAD51D gene BARD1 gene PALB2 gene ATM gene NBN gene CHEK2 gene BRCA2 gene | Breast Carcinoma hereditary negative breast cancers | 202 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) NBN:c.511A>G (p.Ile171Val) NBN:c.265A>G (p.Ile89Val) BRCA1:c.1483C>T (p.Gln495Ter) BRCA1:c.1477C>T (p.Gln493Ter) BRCA1:c.1474C>T (p.Gln492Ter) BRCA1:c.1706_1709delTAAC (p.Thr570Ilefs) BRCA1:c.1643_1646delTAAC (p.Thr549Ilefs) BRCA1:c.1640_1643delTAAC (p.Thr548Ilefs) BRCA1:c.1637_1640delTAAC (p.Thr547Ilefs) BRCA1:c.1601_1604delTAAC (p.Thr535Ilefs) BRCA1:c.3313C>T (p.Gln1105Ter) BRCA1:c.2929C>T (p.Gln977Ter) BRCA1:c.1213C>T (p.Gln405Ter) BRCA1:c.3817C>T (p.Gln1273Ter) BRCA1:c.3676C>T (p.Gln1226Ter) BRCA1:c.788-682C>T PALB2:c.509_510del (p.Arg170fs) RAD51D:c.576+1G>A RAD51D:c.240+1G>A RAD51D:c.636+1G>A | Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers. PloS one:2015 | ||||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. International journal of clinical and experimental medicine:2015 | |||||
NBN gene CHEK2 gene | Breast Carcinoma | 300 | heterozygous | c.657_662del p.Arg215Trp p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) | polymerase chain reaction | Clinical relevance of CHEK2 and NBN mutations in the macedonian population. Balkan journal of medical genetics : BJMG:2015 | |||
ATM gene CHEK2 gene MUTYH gene MSH2 gene TP53 gene | Breast Carcinoma | 278 | double heterozygous heterozygous | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) TP53:c.55C>A (p.Pro19Thr) TP53:c.334C>A (p.Pro112Thr) TP53:c.-27C>A BRCA2:c.62A>G (p.Lys21Arg) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G PMS2:c.86G>C (p.Gly29Ala) PMS2:c.-130G>C PMS2:c.-320G>C PMS2:c.-799G>C PMS2:c.-399G>C PMS2:c.-52-1911G>C PMS2:c.-242-1911G>C MUTYH:c.1174C>A (p.Leu392Met) MUTYH:c.1258C>A (p.Leu420Met) MUTYH:c.1219C>A (p.Leu407Met) MUTYH:c.1207C>A (p.Leu403Met) MUTYH:c.898C>A (p.Leu300Met) MUTYH:c.829C>A (p.Leu277Met) MUTYH:c.1249C>A (p.Leu417Met) BRCA1:c.966T>G (p.Asp322Glu) BRCA1:c.969T>G (p.Asp323Glu) BRCA1:c.1110T>G (p.Asp370Glu) BRCA1:c.1107T>G (p.Asp369Glu) BRCA1:c.1408G>A (p.Glu470Lys) BRCA1:c.1645G>A (p.Glu549Lys) BRCA1:c.1285G>A (p.Glu429Lys) BRCA1:c.901G>A (p.Glu301Lys) BRCA1:c.1789G>A (p.Glu597Lys) BRCA1:c.1648G>A (p.Glu550Lys) BRCA1:c.787+1002G>A BRCA2:c.502C>A (p.Pro168Thr) BRCA2:c.742G>A (p.Ala248Thr) BRCA2:c.94T>C (p.Phe32Leu) MSH6:c.1932G>C (p.Arg644Ser) MSH6:c.1542G>C (p.Arg514Ser) MSH6:c.1026G>C (p.Arg342Ser) MSH6:c.3245C>T (p.Pro1082Leu) MSH6:c.2855C>T (p.Pro952Leu) MSH6:c.2339C>T (p.Pro780Leu) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MLH1:c.1880G>A (p.Arg627His) MLH1:c.1151G>A (p.Arg384His) MLH1:c.1100G>A (p.Arg367His) MLH1:c.2081G>A (p.Arg694His) MLH1:c.2075G>A (p.Arg692His) MLH1:c.2009G>A (p.Arg670His) MSH2:c.1321A>C (p.Thr441Pro) MSH2:c.1123A>C (p.Thr375Pro) MSH2:c.1321A>C MSH2:c.2503A>C (p.Asn835His) MSH2:c.2503A>C MSH2:c.2305A>C (p.Asn769His) BRCA2:c.2835A>C (p.Lys945Asn) MSH6:c.3203G>A (p.Arg1068Gln) MSH6:c.2813G>A (p.Arg938Gln) MSH6:c.2297G>A (p.Arg766Gln) MSH6:c.3203G>A PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.94C>G (p.Leu32Val) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.7313C>T (p.Thr2438Ile) ATM:c.641-21148G>A ATM:c.*38+5001G>A ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C ATM:c.8156G>A (p.Arg2719His) ATM:c.641-26778C>T ATM:c.695-557C>T ATM:c.8558C>G (p.Thr2853Arg) ATM:c.641-36811G>C ATM:c.695-10590G>C MLH1:c.1126C>G (p.Arg376Gly) MLH1:c.397C>G (p.Arg133Gly) MLH1:c.346C>G (p.Arg116Gly) MLH1:c.1420C>G (p.Arg474Gly) MLH1:c.1321C>G (p.Arg441Gly) MLH1:c.651C>G (p.His217Gln) MLH1:c.-79C>G MLH1:c.945C>G (p.His315Gln) MLH1:c.846C>G (p.His282Gln) MLH1:c.-36-5267C>G PMS2:c.691G>C (p.Asp231His) PMS2:c.778G>C (p.Asp260His) PMS2:c.163G>C (p.Asp55His) PMS2:c.523G>C (p.Asp175His) PMS2:c.1096G>C (p.Asp366His) PMS2:c.787G>C (p.Asp263His) PMS2:c.583+2125G>C PMS2:c.988+2125G>C PMS2:c.-240C>G PMS2:c.166C>G (p.Leu56Val) PMS2:c.-50C>G PMS2:c.-719C>G PMS2:c.-319C>G PMS2:c.215G>A (p.Gly72Glu) PMS2:c.620G>A (p.Gly207Glu) PMS2:c.302G>A (p.Gly101Glu) PMS2:c.-314G>A PMS2:c.311G>A (p.Gly104Glu) PMS2:c.133-1770G>A NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) MRE11:c.529G>A (p.Ala177Thr) CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A TP53:c.*115T>G TP53:c.979T>G (p.Ser327Ala) TP53:c.*203T>G TP53:c.619T>G (p.Ser207Ala) TP53:c.1096T>G TP53:c.1096T>G (p.Ser366Ala) ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) MRE11:c.1090C>T (p.Arg364Ter) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.8558C>T (p.Thr2853Met) ATM:c.641-36811G>A ATM:c.695-10590G>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A MSH2:c.55T>C (p.Phe19Leu) MSH2:c.55T>C MSH2:c.-31+71T>C MSH6:c.1061G>T (p.Gly354Val) MSH6:c.671G>T (p.Gly224Val) MSH6:c.155G>T (p.Gly52Val) TP53:c.604G>C (p.Gly202Arg) TP53:c.*107G>C TP53:c.*19G>C TP53:c.883G>C (p.Gly295Arg) TP53:c.523G>C (p.Gly175Arg) MUTYH:c.206G>A (p.Arg69Gln) MUTYH:c.290G>A (p.Arg97Gln) MUTYH:c.251G>A (p.Arg84Gln) MUTYH:c.239G>A (p.Arg80Gln) MUTYH:c.-71G>A MUTYH:c.-66G>A MUTYH:c.281G>A (p.Arg94Gln) PMS2:c.944G>A (p.Arg315Gln) PMS2:c.626G>A (p.Arg209Gln) PMS2:c.539G>A (p.Arg180Gln) PMS2:c.11G>A (p.Arg4Gln) PMS2:c.371G>A (p.Arg124Gln) PMS2:c.635G>A (p.Arg212Gln) PMS2:c.944G>A TP53:c.374C>T TP53:c.374C>T (p.Thr125Met) TP53:c.257C>T (p.Thr86Met) COL3A1:c.2002C>A (p.Pro668Thr) TP53:c.472C>T (p.Arg158Cys) TP53:c.751C>T (p.Arg251Cys) TP53:c.391C>T (p.Arg131Cys) RAD50:c.1679G>T RAD50:c.1679G>T (p.Ser560Ile) MLH1:c.1879C>G (p.Arg627Gly) MLH1:c.1150C>G (p.Arg384Gly) MLH1:c.1099C>G (p.Arg367Gly) MLH1:c.2080C>G (p.Arg694Gly) MLH1:c.2074C>G (p.Arg692Gly) MLH1:c.2008C>G (p.Arg670Gly) BRIP1:c.2992_2993del (p.Lys998fs) PALB2:c.23C>T (p.Pro8Leu) ATM:c.4087A>G (p.Thr1363Ala) RAD50:c.2177G>A (p.Arg726His) RAD50:c.2177G>A RAD50:c.1253_1254delTT RAD50:c.1253_1254del (p.Phe418fs) NBN:c.1274G>A (p.Arg425Lys) NBN:c.1028G>A (p.Arg343Lys) RAD50:c.260G>A RAD50:c.260G>A (p.Arg87His) CDKN2A:c.104G>C (p.Gly35Ala) CDKN2A:c.-3-3516G>C CDKN2A:c.194-3516G>C ATM:c.6839del ATM:c.6839del (p.Gln2280fs) ATM:c.641-17018del ATM:c.*38+9131del RAD50:c.3824A>G RAD50:c.3824A>G (p.Glu1275Gly) TP53:c.*186G>T TP53:c.*98G>T TP53:c.962G>T (p.Gly321Val) TP53:c.602G>T (p.Gly201Val) TP53:c.1079G>T (p.Gly360Val) BRCA2:c.818C>T (p.Ser273Leu) MSH6:c.3478G>A (p.Val1160Ile) MSH6:c.3088G>A (p.Val1030Ile) MSH6:c.2572G>A (p.Val858Ile) MLH1:c.1878_1879delinsAG (p.Arg627Gly) MLH1:c.1149_1150delinsAG (p.Arg384Gly) MLH1:c.1098_1099delinsAG (p.Arg367Gly) MLH1:c.2079_2080delinsAG (p.Arg694Gly) MLH1:c.2073_2074delinsAG (p.Arg692Gly) MLH1:c.2007_2008delinsAG (p.Arg670Gly) ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T BRCA2:c.4813G>A (p.Val1605Ile) ATM:c.8155C>T (p.Arg2719Cys) ATM:c.641-26777G>A ATM:c.695-556G>A MUTYH:c.887C>T (p.Ser296Leu) MUTYH:c.971C>T (p.Ser324Leu) MUTYH:c.932C>T (p.Ser311Leu) MUTYH:c.920C>T (p.Ser307Leu) MUTYH:c.611C>T (p.Ser204Leu) MUTYH:c.542C>T (p.Ser181Leu) MUTYH:c.962C>T (p.Ser321Leu) STK11:c.976C>A (p.Pro326Thr) MLH1:c.-205G>A MLH1:c.-964G>A MLH1:c.-1077G>A MLH1:c.-986G>A MLH1:c.-747G>A MLH1:c.-645G>A MLH1:c.-742G>A MLH1:c.-974G>A MLH1:c.80G>A (p.Arg27Gln) ATM:c.3601T>A (p.Phe1201Ile) PMS2:c.611A>G (p.Asn204Ser) PMS2:c.293A>G (p.Asn98Ser) PMS2:c.206A>G (p.Asn69Ser) PMS2:c.-323A>G PMS2:c.302A>G (p.Asn101Ser) PMS2:c.133-1779A>G PMS2:c.611A>G BRCA1:c.2087G>T (p.Arg696Ile) BRCA1:c.2324G>T (p.Arg775Ile) BRCA1:c.1964G>T (p.Arg655Ile) BRCA1:c.1580G>T (p.Arg527Ile) BRCA1:c.2468G>T (p.Arg823Ile) BRCA1:c.2327G>T (p.Arg776Ile) BRCA1:c.787+1681G>T MSH6:c.1870G>A (p.Gly624Ser) MSH6:c.1480G>A (p.Gly494Ser) MSH6:c.964G>A (p.Gly322Ser) BRCA2:c.3836A>G (p.Asn1279Ser) ATM:c.5080G>A (p.Ala1694Thr) MSH6:c.1231A>T (p.Arg411Trp) MSH6:c.841A>T (p.Arg281Trp) MSH6:c.325A>T (p.Arg109Trp) ATM:c.8774G>T (p.Gly2925Val) ATM:c.640+32052C>A ATM:c.695-18576C>A BRCA2:c.6463C>G (p.Leu2155Val) CHEK2:c.506T>C CHEK2:c.635T>C (p.Phe212Ser) CHEK2:c.-272T>C CHEK2:c.506T>C (p.Phe169Ser) CHEK2:c.445-140T>C RAD50:c.3358G>C RAD50:c.3358G>C (p.Asp1120His) RAD50:c.1680T>A RAD50:c.1680T>A (p.Ser560Arg) CHEK2:c.163T>G (p.Ser55Ala) CHEK2:c.-615T>G CHEK2:c.163T>G MRE11:c.1378G>T (p.Glu460Ter) | nucleaotide-sequencing | Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genetics in medicine : official journal of the American College of Medical Genetics:2015 | ||||
CHEK2 gene | Stomach Carcinoma Breast Carcinoma | 100 | p.Ile157Thr c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. Oncology:2016 | |||||
CDH1 gene CHEK2 gene | Breast Carcinoma breast | 183 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium. Breast cancer research : BCR:2016 | ||||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||||
BRCA2 gene ATM gene CHEK2 gene PALB2 gene | Breast Carcinoma | c.7271T>G c.1343T>G c.1312G>T c.1036C>T c.715G>A c.538C>T c.349A>G c.3113G>A c.2816T>G c.1592delT | ATM:c.7271T>G (p.Val2424Gly) ATM:c.641-20131A>C ATM:c.*38+6018A>C CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) PALB2:c.1592del (p.Leu531fs) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.3113G>A (p.Trp1038Ter) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T ATM:c.1215del (p.Asn405fs) ATM:c.641-20131A>C (n.641-20131A>C) ATM:c.*38+6018A>C (n.*38+6018A>C) ATM:c.538C>T (p.Gln180Ter) CHEK2:c.1312G>T (p.Val438Phe) CHEK2:c.520G>T (p.Val174Phe) CHEK2:c.982G>T (p.Val328Phe) CHEK2:c.1183G>T (p.Val395Phe) CHEK2:c.1096G>T (p.Val366Phe) CHEK2:c.1009-1087C>T (n.1009-1087C>T) CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.-369C>T (n.-369C>T) CHEK2:c.-429A>G (n.-429A>G) | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of medical genetics:2016 | ||||||
APC gene MSH6 gene RET gene MSH2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary Breast Carcinoma breast/ovarian cancer | 282 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.6024dup BRCA2:c.6024dup (p.Gln2009fs) BRCA1:c.1572dup (p.Lys525Glufs) BRCA1:c.1809dup (p.Lys604Glufs) BRCA1:c.1449dup (p.Lys484Glufs) BRCA1:c.1065dup (p.Lys356Glufs) BRCA1:c.1953dup (p.Lys652Glufs) BRCA1:c.1953dup (p.Lys652fs) BRCA1:c.1812dup (p.Lys605fs) BRCA1:c.787+1166dup MSH6:c.3477C>A (p.Tyr1159Ter) MSH6:c.3087C>A (p.Tyr1029Ter) MSH6:c.2571C>A (p.Tyr857Ter) BRCA2:c.5682C>A (p.Tyr1894Ter) RAD51C:c.502A>T RAD51C:c.502A>T (p.Arg168Ter) RAD51C:c.*1597A>T RET:c.813G>C (p.Lys271Asn) RET:c.693G>C (p.Lys231Asn) RET:c.549G>C (p.Lys183Asn) RET:c.1998G>C (p.Lys666Asn) MSH6:c.3477del (p.Cys1158_Tyr1159insTer) MSH6:c.3087del (p.Cys1028_Tyr1029insTer) MSH6:c.2571del (p.Cys856_Tyr857insTer) BRCA2:c.67+2del (n.67+2del) | Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. Breast cancer research and treatment:2016 | ||||||
XRCC2 gene RAD51D gene RAD51C gene RAD51B gene RAD51 gene FANCM gene FANCC gene FANCA gene BRIP1 gene NLRP2 gene RAD50 gene MRE11 gene ATM gene CHEK2 gene PALB2 gene CDH1 gene STK11 gene TP53 gene PTEN gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast-cancer | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C | Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management. Breast (Edinburgh, Scotland):2016 | |||||||
FANCM gene RAD51D gene RAD51C gene PALB2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma or ovarian | 68 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) RAD51D:c.576+1G>A RAD51D:c.240+1G>A RAD51D:c.636+1G>A | CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC cancer:2017 | |||||
CHEK2 gene | Breast Carcinoma | c.IVS2+1G>A p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | An association study between CHEK2 gene mutations and susceptibility to breast cancer. Comparative clinical pathology:2017 | ||||||
RAD50 gene MRE11 gene PALB2 gene CHEK2 gene | Breast Carcinoma hereditary breast cancer | 235 | c.3790C>T c.1456C>T c.140C>T c.3054G>C c.1492G>T c.686A>G c.3811_3813delGAA c.1276C>T c.1773_1774delAA c.1048C>T c.1245dupC c.2257C>T | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C PALB2:c.3054G>C (p.Glu1018Asp) PALB2:c.3307G>A (p.Val1103Met) PALB2:c.2509G>A (p.Glu837Lys) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) RAD50:c.3790C>T (p.Leu1264Phe) RAD50:c.3790C>T RAD50:c.353T>C RAD50:c.353T>C (p.Ile118Thr) PALB2:c.2257C>T (p.Arg753Ter) PALB2:c.1492G>T (p.Asp498Tyr) CHEK2:c.557A>G CHEK2:c.686A>G (p.Asn229Ser) CHEK2:c.-221A>G CHEK2:c.557A>G (p.Asn186Ser) CHEK2:c.445-89A>G PALB2:c.1048C>T (p.Gln350Ter) RAD50:c.3813_3815del (p.Glu1271del) RAD50:c.3813_3815delAGA PALB2:c.1538C>T (p.Thr513Ile) RAD50:c.3836G>A RAD50:c.3836G>A (p.Arg1279His) RAD50:c.1456C>T RAD50:c.1456C>T (p.Arg486Cys) MRE11:c.140C>T (p.Ala47Val) MRE11:c.1418T>C (p.Leu473Ser) RAD50:c.1048C>T RAD50:c.1048C>T (p.Gln350Ter) CHEK2:c.1016A>G (p.Asp339Gly) CHEK2:c.224A>G (p.Asp75Gly) CHEK2:c.887A>G (p.Asp296Gly) CHEK2:c.686A>G (p.Asp229Gly) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | nucleaotide-sequencing sanger sequencing | Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. Breast cancer research and treatment:2017 | ||||
PALB2 gene RAD51D gene BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate prostate | 692 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T BRCA2:c.6591_6592del (p.Glu2198fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.3170_3174del (p.Lys1057fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4472_4475del (p.Leu1491fs) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.5645C>A (p.Ser1882Ter) BRCA2:c.8575del (p.Gln2859fs) BRCA2:c.517-2A>G BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.6757_6758del (p.Leu2253fs) BRCA2:c.8754+4A>G BRCA2:c.5864C>G (p.Ser1955Ter) BRCA1:c.4009C>T (p.Gln1337Ter) BRCA1:c.913C>T (p.Gln305Ter) BRCA1:c.4222C>T (p.Gln1408Ter) BRCA1:c.4099C>T (p.Gln1367Ter) BRCA1:c.3958C>T (p.Gln1320Ter) BRCA1:c.5075-1G>A BRCA1:c.4934-1G>A BRCA1:c.1763-1G>A BRCA1:c.5138-1G>A BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.2385_2388delAGTT (p.Val796Ilefs) BRCA1:c.2622_2625delAGTT (p.Val875Ilefs) BRCA1:c.2262_2265delAGTT (p.Val755Ilefs) BRCA1:c.1878_1881delAGTT (p.Val627Ilefs) BRCA1:c.2766_2769delAGTT (p.Val923Ilefs) BRCA1:c.2767_2770del (p.Val923fs) BRCA1:c.2626_2629del (p.Val876fs) BRCA1:c.788-1732_788-1729del MSH6:c.642C>G (p.Tyr214Ter) MSH6:c.252C>G (p.Tyr84Ter) MSH6:c.-265C>G PALB2:c.3113G>A (p.Trp1038Ter) ATM:c.1339C>T (p.Arg447Ter) ATM:c.3802del (p.Glu1267_Val1268insTer) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A ATM:c.7630-2A>C ATM:c.641-22806T>G ATM:c.*38+3343T>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A BRIP1:c.2273dup (p.Ala759fs) ATM:c.1402_1403del (p.Lys468fs) ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T ATM:c.4373del (p.Gly1458fs) ATM:c.790del (p.Tyr264fs) CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.226del (p.Ile76fs) PALB2:c.2052del (p.Arg686fs) ATM:c.742C>T (p.Arg248Ter) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del MRE11:c.1222dup (p.Thr408fs) RAD51C:c.181_182delCT RAD51C:c.181_182del (p.Leu61fs) RAD51C:c.709C>T RAD51C:c.709C>T (p.Arg237Ter) MSH2:c.408del MSH2:c.408del (p.Phe136fs) MSH2:c.210del (p.Phe70fs) BRCA2:c.8754+4A>T BARD1:c.457_460dupAAAG BARD1:c.457_460dup (p.Val154fs) BARD1:c.400_403dup (p.Val135fs) BARD1:c.158+27995_158+27998dup BARD1:c.215+15644_215+15647dup BARD1:c.364+10880_364+10883dup BRCA2:c.4544dup (p.Ile1516fs) NBN:c.1958dup (p.Leu654fs) NBN:c.1712dup (p.Leu572fs) ATM:c.5910del ATM:c.5910del (p.Glu1971fs) ATM:c.641-1235del ATM:c.*39-1235del RAD51D:c.386dup (p.Gly130fs) RAD51D:c.326dup (p.Gly110fs) RAD51D:c.145-904dup NBN:c.56del NBN:c.-241del NBN:c.56del (p.Leu18_Leu19insTer) BRCA2:c.4691dup (p.Thr1566fs) BRCA2:c.2097delG (p.Gln699Hisfs) BRCA2:c.2097del (p.Gln699fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) RAD51D:c.264-1G>A RAD51D:c.145-967G>A RAD51D:c.324-1G>A RAD51D:c.814del (p.Thr272fs) RAD51D:c.754del (p.Thr252fs) RAD51D:c.418del (p.Thr140fs) BRCA1:c.2767_2770del (p.Val923IlefsTer?) BRCA1:c.2626_2629del (p.Val876IlefsTer?) BRCA1:c.788-1732_788-1729del (n.788-1732_788-1729del) BRCA2:c.2094del (p.Gln699SerfsTer?) BRCA2:c.4544dup (p.Ile1516AspfsTer13) BRCA2:c.4691dup (p.Thr1566AspfsTer9) BRCA2:c.5364dup (p.Lys1789GlnfsTer18) BRCA2:c.5585_5588del (p.Val1862GlufsTer11) | nucleaotide-sequencing | autosomal dominant | Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53. Urologic oncology:2017 | ||||
CHEK2 gene | Breast Carcinoma | 39139 | c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C | Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. Genetics in medicine : official journal of the American College of Medical Genetics:2017 | |||||
CHEK2 gene POLD1 gene KRAS gene MUTYH gene APC gene | Colorectal Carcinoma mutyh colon polyposis colorectal malignancies | heterozygous | p.Ile157Thr p.Leu460Arg p.Gln293Ter p.Arg245Ser p.Leu111Pro p.Arg245His p.Gly396Asp p.Tyr179Cys p.Gly12Cys p.Leu1564Ter | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) KRAS:c.34G>T KRAS:c.34G>T (p.Gly12Cys) MUTYH:c.248T>C (p.Leu83Pro) MUTYH:c.332T>C (p.Leu111Pro) MUTYH:c.293T>C (p.Leu98Pro) MUTYH:c.281T>C (p.Leu94Pro) MUTYH:c.-29T>C MUTYH:c.-24T>C MUTYH:c.323T>C (p.Leu108Pro) MUTYH:c.650G>A (p.Arg217His) MUTYH:c.734G>A (p.Arg245His) MUTYH:c.695G>A (p.Arg232His) MUTYH:c.683G>A (p.Arg228His) MUTYH:c.374G>A (p.Arg125His) MUTYH:c.305G>A (p.Arg102His) MUTYH:c.725G>A (p.Arg242His) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) APC:c.3624_3628del (p.Glu1208fs) APC:c.3549_3553del (p.Glu1183fs) APC:c.3447_3451del (p.Glu1149fs) APC:c.3078_3082del (p.Glu1026fs) APC:c.3927_3931del (p.Glu1309fs) APC:c.3873_3877del (p.Glu1291fs) APC:c.3981_3985del (p.Glu1327fs) APC:c.3957_3961del (p.Glu1319fs) APC:c.3852_3856del (p.Glu1284fs) APC:c.2577_2580del (p.Asp859fs) APC:c.2472_2475del (p.Asp824fs) APC:c.2463_2466del (p.Asp821fs) APC:c.2424_2427del (p.Asp808fs) APC:c.2370_2373del (p.Asp790fs) APC:c.2274_2277del (p.Asp758fs) APC:c.2244_2247del (p.Asp748fs) APC:c.2169_2172del (p.Asp723fs) APC:c.2067_2070del (p.Asp689fs) APC:c.1698_1701del (p.Asp566fs) APC:c.2547_2550delTAGA MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.241C>T (p.Arg81Trp) MUTYH:c.325C>T (p.Arg109Trp) MUTYH:c.286C>T (p.Arg96Trp) MUTYH:c.274C>T (p.Arg92Trp) MUTYH:c.-36C>T MUTYH:c.-31C>T MUTYH:c.316C>T (p.Arg106Trp) APC:c.1312+5G>A APC:c.1237+5G>A APC:c.934+5G>A APC:c.463+5G>A APC:c.1009+5G>A APC:c.1228+5G>A APC:c.1135+5G>A APC:c.832+5G>A MUTYH:c.1305G>C (p.Gln435His) MUTYH:c.1389G>C (p.Gln463His) MUTYH:c.1350G>C (p.Gln450His) MUTYH:c.1338G>C (p.Gln446His) MUTYH:c.1029G>C (p.Gln343His) MUTYH:c.960G>C (p.Gln320His) MUTYH:c.1380G>C (p.Gln460His) MUTYH:c.1389G>C APC:c.4745T>A (p.Leu1582Ter) APC:c.4721T>A (p.Leu1574Ter) APC:c.4616T>A (p.Leu1539Ter) APC:c.4607T>A (p.Leu1536Ter) APC:c.4568T>A (p.Leu1523Ter) APC:c.4514T>A (p.Leu1505Ter) APC:c.4418T>A (p.Leu1473Ter) APC:c.4388T>A (p.Leu1463Ter) APC:c.4313T>A (p.Leu1438Ter) APC:c.4211T>A (p.Leu1404Ter) APC:c.3842T>A (p.Leu1281Ter) | Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. Clinical genetics:2018 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast | 41 | p.Ile157Thr p.Arg145Trp c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 Germ Line Mutations are Lacking among Familialand Sporadic Breast Cancer Patients in Rwanda Asian Pacific journal of cancer prevention : APJCP:2018 | ||||
NOD2 gene ERCC2 gene BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | p.Glu1008Ter p.Lys751Gln p.Ala1991Val p.Ile157Thr | ERCC2:c.2251A>C (p.Lys751Gln) BRCA2:c.5972C>T (p.Ala1991Val) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA1:c.3406G>T (p.Glu1136Ter) BRCA1:c.3022G>T (p.Glu1008Ter) BRCA1:c.1306G>T (p.Glu436Ter) BRCA1:c.3910G>T (p.Glu1304Ter) BRCA1:c.3769G>T (p.Glu1257Ter) BRCA1:c.788-589G>T | nucleaotide-sequencing | Breast cancer in an 18-year-old female: A fatal case report and literature review. Cancer biology & therapy:2018 | |||||
FANCM gene RAD51D gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | c.556C>T c.5791C>T p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.7007G>C (p.Arg2336Pro) FANCM:c.5791C>T FANCM:c.5713C>T (p.Arg1905Ter) FANCM:c.5791C>T (p.Arg1931Ter) RAD51D:c.556C>T (p.Arg186Ter) RAD51D:c.616C>T (p.Arg206Ter) RAD51D:c.220C>T (p.Arg74Ter) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA2:c.5791C>T (p.Gln1931Ter) BRCA1:c.391C>T (p.His131Tyr) BRCA1:c.682C>T (p.His228Tyr) BRCA1:c.685C>T (p.His229Tyr) BRCA1:c.4204C>T (p.His1402Tyr) BRCA1:c.4063C>T (p.His1355Tyr) BRCA1:c.895C>T (p.His299Tyr) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | nucleaotide-sequencing | Mutational analysis of candidate genes in Israeli male breast cancer cases. Breast cancer research and treatment:2018 | |||||
WRN gene TP53 gene RAD51C gene FANCM gene ERCC5 gene CHEK2 gene ATM gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary hereditary breast and ovarian cancer breast and ovarian cancer | 101 | ATM:c.3245_3247delinsTGAT (p.His1082fs) WRN:c.1105C>T (p.Arg369Ter) WRN:c.1105C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) TP53:c.422G>A (p.Arg141His) TP53:c.701G>A (p.Arg234His) TP53:c.341G>A (p.Arg114His) NF1:c.7595C>T (p.Ala2532Val) NF1:c.7532C>T (p.Ala2511Val) MLH1:c.-291C>T MLH1:c.-1050C>T MLH1:c.-1163C>T MLH1:c.-1072C>T MLH1:c.-833C>T MLH1:c.-731C>T MLH1:c.-828C>T MLH1:c.-1060C>T MLH1:c.-7C>T MLH1:c.509A>G (p.Glu170Gly) MLH1:c.803A>G (p.Glu268Gly) MLH1:c.704A>G (p.Glu235Gly) MLH1:c.-139-2792A>G MLH1:c.-37+2974A>G MSH2:c.2503A>C (p.Asn835His) MSH2:c.2503A>C MSH2:c.2305A>C (p.Asn769His) ATM:c.4324T>C (p.Tyr1442His) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T BRIP1:c.2087C>T (p.Pro696Leu) RAD51C:c.1026+5_1026+7del RAD51C:c.1026+5_1026+7delGTA ATM:c.8734A>G (p.Arg2912Gly) ATM:c.640+32092T>C ATM:c.695-18536T>C ATM:c.1986T>C (p.Phe662=) PMS2:c.1780A>C (p.Arg594=) PMS2:c.1618A>C (p.Arg540=) PMS2:c.1531A>C (p.Arg511=) PMS2:c.1375A>C (p.Arg459=) PMS2:c.1003A>C (p.Arg335=) PMS2:c.1363A>C (p.Arg455=) PMS2:c.1936A>C (p.Arg646=) PMS2:c.1627A>C (p.Arg543=) PMS2:c.1936A>C CHEK2:c.319+2T>A CHEK2:c.-459+2T>A ATM:c.2804C>T (p.Thr935Met) ATM:c.1727T>C (p.Ile576Thr) NF1:c.5793T>C (p.Ile1931=) NF1:c.5730T>C (p.Ile1910=) NF1:c.7291C>T (p.Arg2431Cys) NF1:c.7354C>T (p.Arg2452Cys) PMS2:c.1360G>C (p.Asp454His) PMS2:c.1609G>C (p.Asp537His) PMS2:c.1447G>C (p.Asp483His) PMS2:c.1204G>C (p.Asp402His) PMS2:c.832G>C (p.Asp278His) PMS2:c.1192G>C (p.Asp398His) PMS2:c.1765G>C (p.Asp589His) PMS2:c.1456G>C (p.Asp486His) FANCF:c.1087C>T (p.Gln363Ter) ATM:c.8432del (p.Lys2811fs) ATM:c.8432del ATM:c.641-36679del ATM:c.695-10458del MLH1:c.642T>C (p.Leu214=) MLH1:c.591T>C (p.Leu197=) MLH1:c.1665T>C (p.Leu555=) MLH1:c.1566T>C (p.Leu522=) NF1:c.960T>A (p.Ala320=) NF1:c.5162A>G (p.Asn1721Ser) NF1:c.5225A>G (p.Asn1742Ser) ATM:c.5229A>G (p.Thr1743=) ATM:c.3549T>C (p.Asn1183=) ATM:c.3703C>T (p.Pro1235Ser) CHEK2:c.1205_1206delCTinsTC CHEK2:c.1334_1335delinsTC (p.Ala445Val) CHEK2:c.542_543delinsTC (p.Ala181Val) CHEK2:c.1004_1005delinsTC (p.Ala335Val) CHEK2:c.1205_1206delinsTC (p.Ala402Val) CHEK2:c.1118_1119delinsTC (p.Ala373Val) ATM:c.1727T>A (p.Ile576Lys) | nucleaotide-sequencing | Identifying sequence variants contributing to hereditary breast and ovarian cancer inBRCA1 and BRCA2 negative breast and ovarian cancer patients. Scientific reports:2019 | |||||
CHEK2 gene MLH1 gene MEN1 gene | Breast Carcinoma multilocus inherited neoplasia alleles syndrome | 1023 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A ATM:c.3712_3716del (p.Leu1238fs) FLCN:c.346C>T FLCN:c.346C>T (p.Gln116Ter) APC:c.3007C>T (p.His1003Tyr) APC:c.2953C>T (p.His985Tyr) APC:c.2869C>T (p.His957Tyr) APC:c.2407C>T (p.His803Tyr) APC:c.2104C>T (p.His702Tyr) | Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? Journal of medical genetics:2019 | ||||||
CHEK2 gene | Malignant neoplasm of testis | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. Familial cancer:2021 | ||||||
CHEK2 gene | Lymphoma | 91 | p.Ile157Thr | TP53:c.404G>A (p.Arg135Gln) TP53:c.683G>A (p.Arg228Gln) TP53:c.323G>A (p.Arg108Gln) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | nucleaotide-sequencing | Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series. Familial cancer:2021 | ||||
CHEK2 gene | Carcinoma of bladder Malignant neoplasm of kidney stage t1 disease stage ta bladder cancer t1 disease t1 bladder cancer bladder or kidney cancer | 1016 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Survival of bladder or renal cancer in patients with CHEK2 mutations. PloS one:2021 | ||||
CHEK2 gene MUTYH gene BRCA2 gene ATM gene | Pancreatic Ductal Adenocarcinoma | heterozygous | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma. Cancers:2021 | |||||
CHEK2 gene RAD51C gene PALB2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary | 2270 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.7913_7917del (p.Ala2637_Phe2638insTer) | Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer. Cancers:2021 | ||||||
TP53 gene RAD51D gene RAD51C gene PTEN gene PALB2 gene CHEK2 gene CDH1 gene BRIP1 gene BRCA2 gene BRCA1 gene BARD1 gene ATM gene | Stomach Carcinoma Ductal Breast Carcinoma Breast Carcinoma lobular carcinoma | 2999 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2021 | |||||
CHEK2 gene RAD51C gene PALB2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary ovarian cancer g1 grade ovarian cancer low-grade ovarian carcinomas type i ovarian tumors | 167 | c.470T>C | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | missense mutation | Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor. Hereditary cancer in clinical practice:2022 | ||||
BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | c.1100delC p.Ile157Thr p.Arg95Ter p.Arg145Trp c.444+1G>A | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.-495C>T (n.-495C>T) CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) | microarray nucleaotide-sequencing | Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review. European journal of medical genetics:2022 | |||||
FOXL2 gene CHEK2 gene | Malignant neoplasm of ovary Thyroid carcinoma granulosa cell tumors | 93 | p.Cys134Trp p.Ile157Thr c.1100delC | FOXL2:c.402C>G (p.Cys134Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors. Cancers:2022 | |||||
TP53 gene STK11 gene SMAD4 gene PTEN gene PMS2 gene MUTYH gene MSH6 gene MSH2 gene MLH1 gene EPCAM gene CHEK2 gene CDH1 gene APC gene | Malignant neoplasm of appendix lynch syndrome | c.263287dup p.Ile157Thr c.470T>C p.Ile1307Lys c.3920T>A | TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C MSH2:c.668T>C (p.Leu223Pro) MSH2:c.668T>C MSH2:c.470T>C (p.Leu157Pro) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3920T>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) CDH1:c.470T>C CDH1:c.470T>C (p.Val157Ala) CDH1:c.-1146T>C CDH1:c.-1350T>C | nucleaotide-sequencing | Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology:2022 | |||||
MUTYH gene APC gene CHEK2 gene | Colorectal Carcinoma | heterozygous | c.1100delC p.Ile1307Lys c.3920T>A p.Ile157Thr c.470T>C p.Thr367fs | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.3920T>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genetics in medicine : official journal of the American College of Medical Genetics:2022 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Patient's Ethnicity | History | Variations from text | Variations from curated data | Tech | Interventions | Citation |
---|---|---|---|---|---|---|---|---|---|---|
CHEK2 gene | s disease of the breast paget | 53(year) | female | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | mastectomy | Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation. European journal of breast health:2020 | ||||
Breast Carcinoma | Breast Carcinoma | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C BRCA2:c.8290G>A (p.Ala2764Thr) | nucleaotide-sequencing | Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer. International journal of cancer:2020 | ||||||
CHEK2 gene BRCA2 gene | Breast Carcinoma | belarusian | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | |||||
TP53 gene | Li-Fraumeni Syndrome | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Li-fraumeni syndrome. Genes & cancer:2011 | |||||||
CHEK2 gene | Breast Carcinoma Li-Fraumeni Syndrome li-fraumeni | dutch | p.Phe328Ser | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.1566C>T CHEK2:c.1695C>T (p.Pro565=) CHEK2:c.903C>T (p.Pro301=) CHEK2:c.1365C>T (p.Pro455=) CHEK2:c.1566C>T (p.Pro522=) CHEK2:c.1479C>T (p.Pro493=) CHEK2:c.782T>C (p.Phe261Ser) CHEK2:c.983T>C (p.Phe328Ser) CHEK2:c.1112T>C (p.Phe371Ser) CHEK2:c.320T>C (p.Phe107Ser) CHEK2:c.983T>C | The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hereditary cancer in clinical practice:2009 | |||||
CHEK2 gene | Thyroid carcinoma Papillary thyroid carcinoma Breast Carcinoma breast, prostate and colorectal cancer | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 mutations and papillary thyroid cancer: correlation or coincidence? Hereditary cancer in clinical practice:2022 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
MSH6 gene CHEK2 gene CHEK1 gene TP53 gene | Li-Fraumeni Syndrome li-fraumeni-like syndrome | 44 | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) TP53:c.347G>A (p.Arg116Gln) TP53:c.626G>A (p.Arg209Gln) TP53:c.266G>A (p.Arg89Gln) TP53:c.743G>A (p.Arg248Gln) TP53:c.743G>A TP53:c.55C>A (p.Pro19Thr) TP53:c.334C>A (p.Pro112Thr) TP53:c.-27C>A TP53:c.55C>T (p.Pro19Ser) TP53:c.334C>T (p.Pro112Ser) TP53:c.-27C>T TP53:c.190C>T (p.Arg64Ter) TP53:c.469C>T (p.Arg157Ter) TP53:c.109C>T (p.Arg37Ter) TP53:c.241C>T (p.Arg81Ter) TP53:c.520C>T (p.Arg174Ter) TP53:c.160C>T (p.Arg54Ter) MSH6:c.2983G>T (p.Glu995Ter) MSH6:c.2593G>T (p.Glu865Ter) MSH6:c.2077G>T (p.Glu693Ter) | Electrophoresis | p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer research:2001 | |||||
BRCA2 gene BRCA1 gene TP53 gene CHEK2 gene | Breast Carcinoma Li-Fraumeni Syndrome unilateral cancer | 1035 | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. American journal of human genetics:2002 | ||||
CHEK2 gene | Breast Carcinoma | 68 | p.Arg137Gln p.Arg117Gly p.Arg180His c.1100delC c.*1100delC | CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.-368G>A (n.-368G>A) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.-239G>A (n.-239G>A) CHEK2:c.445-107G>A (n.445-107G>A) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. British journal of cancer:2002 | |||||
TP53 gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast and ovarian cancer | 718 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature genetics:2002 | ||||
CHEK2 gene | Malignant neoplasm of prostate prostate carcinogenesis | 149 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1109A>G (p.Tyr370Cys) CHEK2:c.317A>G (p.Tyr106Cys) CHEK2:c.779A>G (p.Tyr260Cys) CHEK2:c.980A>G (p.Tyr327Cys) CHEK2:c.980A>G CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | polymerase chain reaction | frameshift missense mutation | Mutations in CHEK2 associated with prostate cancer risk. American journal of human genetics:2003 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 737 | 335 | p.Ile157Thr p.Arg145Trp p.Arg117Gly c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. American journal of human genetics:2003 | ||||
CHEK2 gene | Colorectal Carcinoma Breast Carcinoma hereditary breast and colorectal cancer | 380 | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. American journal of human genetics:2003 | |||||
CHEK2 gene | Malignant neoplasm of prostate hereditary prostate cancer | 120 | p.Ile157Thr c.1100delC | CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2 variants associate with hereditary prostate cancer. British journal of cancer:2003 | ||||
CHEK2 gene | Breast Carcinoma | 1665 | c.*1100delC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC medical genetics:2003 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma Malignant neoplasm of ovary breast/ovarian cancer breast and | 22 | c.1100delC | BRCA2:c.4258G>T (p.Asp1420Tyr) BRCA1:c.646_650delTCCTC (p.Ser217Glufs) BRCA1:c.637_641delTCCTC (p.Ser214Glufs) BRCA1:c.634_638delTCCTC (p.Ser213Glufs) BRCA2:c.2892A>T (p.Lys964Asn) BRCA1:c.4158_4162del (p.Ser1387GlufsTer2) BRCA1:c.4017_4021del (p.Ser1340GlufsTer2) BRCA1:c.849_853del (p.Ser284GlufsTer2) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nonsense mutation premature stop deletion | BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pacific journal of cancer prevention : APJCP:2003 | ||||
BRCA2 gene CHEK2 gene | Breast Carcinoma | 237 | 71 | c.*1100delC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | frameshift | The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer research:2003 | |||
CHEK2 gene | Colorectal Carcinoma Adenoma of large intestine Li-Fraumeni Syndrome colorectal disease aneuploidy | 149 | heterozygous | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma. Cancer letters:2003 | ||||
CHEK2 gene BRCA2 gene | Breast Carcinoma Li-Fraumeni Syndrome Carcinoma of Male Breast | 114 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC is not a risk factor for male breast cancer population. International journal of cancer:2004 | |||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 516 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.1022A>C CHEK2:c.1151A>C (p.Asn384Thr) CHEK2:c.359A>C (p.Asn120Thr) CHEK2:c.821A>C (p.Asn274Thr) CHEK2:c.1022A>C (p.Asn341Thr) CHEK2:c.1009-1101A>C | splice site mutation | Limited relevance of the CHEK2 gene in hereditary breast cancer. International journal of cancer:2004 | ||||
CHEK2 gene | Breast Carcinoma | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variant I157T may be associated with increased breast cancer risk. International journal of cancer:2004 | ||||||
CHEK2 gene | Breast Carcinoma | 10860 | c.*1100delC c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | frameshift | CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. American journal of human genetics:2004 | ||||
CHEK2 gene | Thyroid carcinoma Malignant neoplasm of prostate Malignant neoplasm of kidney Colon Carcinoma Breast Carcinoma breast and prostate cancer | 4008 | p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | missense mutation premature stop | CHEK2 is a multiorgan cancer susceptibility gene. American journal of human genetics:2004 | ||||
TP53 gene CHEK2 gene | Adenocarcinoma Squamous cell carcinoma Breast Carcinoma oesophageal carcinogenesis oesophageal squamous cell carcinomas oesophageal adenocarcinoma oesophageal adenocarcinomas | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis. British journal of cancer:2004 | ||||||
CHEK2 gene BRCA2 gene | Malignant neoplasm of ovary Breast Carcinoma Malignant neoplasm of prostate breast | 506 | p.Ile175Thr p.Arg145Trp c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast cancer research : BCR:2004 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 140 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer research:2004 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma breast or ovarian cancer | 1084 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. Journal of medical genetics:2004 | |||||
CHEK2 gene | Breast Carcinoma | 26 | c.1100delC | CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Analysis of familial male breast cancer for germline mutations in CHEK2. Cancer letters:2004 | |||||
CHEK2 gene | Brain Neoplasms lfs syndrome sarcoma malignant melanoma | 101 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction nucleaotide-sequencing | Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skin. Melanoma research:2004 | ||||
CHEK2 gene | Breast Carcinoma | 1297 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients. International journal of cancer:2005 | |||||
CHEK2 gene | Breast Carcinoma | 996 | heterozygous | c.IVS2+1G>A p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Association of two mutations in the CHEK2 gene with breast cancer. International journal of cancer:2005 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 300 | heterozygous | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. British journal of cancer:2005 | ||||
CHEK2 gene | Colorectal Carcinoma Breast Carcinoma breast/ovarian cancer hereditary breast and colorectal cancer | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | frameshift | The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Familial cancer:2005 | |||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma breast-cancer | 469 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet (London, England):2005 | |||||
CHEK2 gene | Breast Carcinoma | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Chromosomal radiosensitivity of breast cancer with a CHEK2 mutation. Cancer genetics and cytogenetics:2005 | ||||||
CHEK2 gene | Breast Carcinoma | 1046 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast cancer research and treatment:2005 | |||||
CHEK2 gene | Breast Carcinoma lobular carcinoma | 482 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | Pathology of breast cancer in women with constitutional CHEK2 mutations. Breast cancer research and treatment:2005 | ||||
CHEK2 gene | Breast Carcinoma | 962 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors. European journal of cancer (Oxford, England : 1990):2005 | |||||
CHEK2 gene | Breast Carcinoma colorectal and endometrial cancer breast and colorectal cancers | 629 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Colorectal cancer and the CHEK2 1100delC mutation. Genes, chromosomes & cancer:2005 | |||||
CHEK2 gene | Malignant neoplasm of prostate cancer breast and prostate cancer | 419 | c.1100delC c.*1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2*1100delC is not an important high-risk gene in families with hereditary prostate cancer in southern Sweden. Scandinavian journal of urology and nephrology:2006 | |||||
MSH2 gene CHEK2 gene | Colorectal Carcinoma Breast Carcinoma hbcc syndrome breast and colorectal cancer | 113 | 184 | c.1100delC | BRCA2:c.9699_9702del (p.Cys3233fs) BRCA2:c.9498del (p.Glu3167fs) BRCA2:c.9666del (p.Cys3222fs) BRCA2:c.9924C>G (p.Tyr3308Ter) BRCA2:c.9924C>T (p.Tyr3308=) BRCA2:c.9513_9516del (p.Leu3172fs) BRCA1:c.3163delC (p.Gln1055Lysfs) BRCA1:c.3160delC (p.Gln1054Lysfs) BRCA1:c.3145delC (p.Gln1049Lysfs) BRCA1:c.3142delC (p.Gln1048Lysfs) BRCA1:c.2953delC (p.Gln985Lysfs) MLH1:c.88del (p.Ala30fs) MLH1:c.-435del MLH1:c.-548del MLH1:c.-445del MLH1:c.-353del MLH1:c.382del (p.Ala128fs) MLH1:c.283del (p.Ala95fs) MLH1:c.607C>T (p.Gln203Ter) MLH1:c.-123C>T MLH1:c.901C>T (p.Gln301Ter) MLH1:c.802C>T (p.Gln268Ter) MLH1:c.-36-5311C>T MSH2:c.1777C>T (p.Gln593Ter) MSH2:c.1777C>T MSH2:c.1579C>T (p.Gln527Ter) BRCA2:c.9682del (p.Ser3228fs) BRCA2:c.9672dup (p.Tyr3225fs) BRCA2:c.9891_9894dup (p.Gln3299fs) BRCA2:c.9748dup (p.Ser3250fs) BRCA2:c.9789_9790del (p.Asn3264fs) BRCA2:c.9593_9594del (p.Cys3198fs) BRCA2:c.9777del (p.Ile3259fs) BRCA2:c.9584_9586delinsAT BRCA2:c.9584_9586delinsAT (p.Thr3195fs) BRCA2:c.9836dup (p.Leu3279fs) BRCA1:c.3286del (p.Gln1096LysfsTer13) BRCA1:c.3145del (p.Gln1049LysfsTer13) BRCA1:c.788-1213del (n.788-1213del) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. Clinical genetics:2006 | ||||
CHEK2 gene | Malignant neoplasm of ovary borderline ovarian cancers ovarian cystadenomas ovarian benign ovarian cystadenomas | 1108 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. Gynecologic oncology:2006 | |||||
CHEK2 gene | Breast Carcinoma | 296 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Low frequency of the CHEK2*1100delC mutation among breast cancer probands from three regions of Poland. Neoplasma:2006 | |||||
CHEK2 gene | Colorectal Carcinoma Breast Carcinoma breast and colorectal cancer hereditary breast and colorectal cancer hereditary cancer multiple primary tumors development | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum. BMC cancer:2006 | ||||||
CHEK2 gene | Breast Carcinoma | 1577 | c.1100delC | CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk. PLoS medicine:2006 | |||||
CHEK2 gene | Breast Carcinoma | p.Arg117Gly c.483-485delAGA c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer research:2006 | ||||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. Journal of medical genetics:2006 | ||||||
CHEK2 gene | Breast Carcinoma Colorectal Carcinoma breast and colorectal cancer | 644 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC variant in Swedish colorectal cancer. Anticancer research:2006 | |||||
CHEK2 gene | Breast Carcinoma | 660 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC mutation is frequent among Russian breast cancer patients. Breast cancer research and treatment:2006 | |||||
CHEK2 gene | Breast Carcinoma breast disease | 2311 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2006 | |||||
CHEK2 gene | Malignant neoplasm of lung Colorectal Carcinoma Malignant neoplasm of prostate Breast Carcinoma colorectal | 11116 | 67 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2006 | |||
CHEK2 gene | Breast Carcinoma | 3228 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | premature stop missense mutation | CHEK2-positive breast cancers in young Polish women. Clinical cancer research : an official journal of the American Association for Cancer Research:2006 | |||
BRCA1 gene CHEK2 gene | Breast Carcinoma | 248 | p.Pro85Leu p.His143Tyr c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.1312G>T (p.Val438Phe) CHEK2:c.520G>T (p.Val174Phe) CHEK2:c.982G>T (p.Val328Phe) CHEK2:c.1183G>T (p.Val395Phe) CHEK2:c.1096G>T (p.Val366Phe) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-524C>T (n.-524C>T) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. International journal of cancer:2007 | |||||
NLRP2 gene BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | 302 | p.Cys61Gly c.300T>G c.657_662del c.6174delT c.185delAG c.IVS2+1G>A c.4153delA c.1100delC c.5382insC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.469delA (p.Ser157Alafs) BRCA1:c.760delA (p.Ser254Alafs) BRCA1:c.763delA (p.Ser255Alafs) BRCA1:c.4282del (p.Ser1428fs) BRCA1:c.4141del (p.Ser1381fs) BRCA1:c.973del (p.Ser325fs) BRCA1:c.973delA (p.Ser325Alafs) BRCA1:c.4282del | Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Familial cancer:2007 | |||||
CHEK2 gene | Breast Carcinoma | 763 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. BMC cancer:2007 | ||||
CHEK2 gene | Breast Carcinoma | 4454 | p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop missense mutation deletion | A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast cancer research and treatment:2007 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene MDM2 gene | Breast Carcinoma breast carcinogenesis cancer | 343 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling. Breast cancer research and treatment:2007 | |||||
CHEK2 gene | Breast Carcinoma | 100 | heterozygous | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology:2007 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | one hundred and seventy breast/ovarian cancer | c.1100delC | BRCA1:c.598G>T (p.Glu200Ter) BRCA1:c.595G>T (p.Glu199Ter) BRCA1:c.568G>T (p.Glu190Ter) BRCA1:c.565G>T (p.Glu189Ter) BRCA1:c.544G>T (p.Glu182Ter) BRCA1:c.475G>T (p.Glu159Ter) BRCA1:c.1580_1584CTAAT[1] (p.Leu529Tyrfs) BRCA1:c.1577_1581CTAAT[1] (p.Leu528Tyrfs) BRCA2:c.6468_6469del (p.Gln2157fs) BRCA2:c.6124C>T (p.Gln2042Ter) BRCA2:c.8487+1G>A BRCA2:c.8961_8964del (p.Ser2988fs) BRCA1:c.999dup (p.Phe334Ilefs) BRCA1:c.1236dup (p.Phe413Ilefs) BRCA1:c.876dup (p.Phe293Ilefs) BRCA1:c.492dup (p.Phe165Ilefs) BRCA1:c.1380dup (p.Phe461Ilefs) BRCA1:c.1380dup (p.Phe461fs) BRCA1:c.1239dup (p.Phe414fs) BRCA1:c.787+593dup BRCA1:c.225T>G (p.Tyr75Ter) BRCA1:c.162T>G (p.Tyr54Ter) BRCA1:c.303T>G (p.Tyr101Ter) BRCA1:c.133delC (p.Gln45Asnfs) BRCA1:c.304delC (p.Gln102Asnfs) BRCA1:c.514delC (p.Gln172Asnfs) BRCA1:c.514del (p.Gln172fs) BRCA1:c.373del (p.Gln125fs) TP53:c.484G>T (p.Glu162Ter) TP53:c.763G>T (p.Glu255Ter) TP53:c.403G>T (p.Glu135Ter) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Annals of oncology : official journal of the European Society for Medical Oncology:2007 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 64 | c.1100delC | BRCA2:c.1929del (p.Arg645fs) BRCA2:c.755_758del (p.Asp252fs) BRCA2:c.6944_6947del (p.Ile2315fs) BRCA2:c.1395A>C (p.Val465=) BRCA2:c.26del (p.Pro9fs) BRCA2:c.6079dup (p.Arg2027fs) BRCA2:c.7166del (p.Arg2389fs) BRCA2:c.671A>T (p.Asp224Val) BRCA2:c.7166del (p.Arg2389LysfsTer5) BRCA2:c.8020_8021del (p.Lys2674AspfsTer6) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | BRCA1/2 mutation analysis in male breast cancer families from North West England. Familial cancer:2008 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer | p.Arg406His c.1217G>A p.Glu84Glu c.252A>G c.IVS2+1G>A p.Ser428Phe p.Ile157Thr c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.252A>G (p.Glu84=) CHEK2:c.-526A>G (n.-526A>G) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1073G>A (p.Arg358His) BRCA1:c.953G>A (p.Arg318His) BRCA1:c.926G>A (p.Arg309His) BRCA1:c.4766G>A (p.Arg1589His) BRCA1:c.4625G>A (p.Arg1542His) BRCA1:c.1454G>A (p.Arg485His) BRCA1:c.4829G>A (p.Arg1610His) BRCA1:c.980G>A (p.Ser327Asn) BRCA1:c.1217G>A (p.Ser406Asn) BRCA1:c.857G>A (p.Ser286Asn) BRCA1:c.473G>A (p.Ser158Asn) BRCA1:c.1361G>A (p.Ser454Asn) BRCA1:c.1220G>A (p.Ser407Asn) BRCA1:c.787+574G>A BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction | missense mutation | Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. BMC cancer:2008 | ||||
CHEK2 gene | Breast Carcinoma associated breast cancers | 3882 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer research:2008 | |||||
CHEK2 gene BRCA1 gene BRCA2 gene | Malignant neoplasm of prostate Breast Carcinoma Carcinoma of Male Breast breast/ovarian cancer | 102 | p.Ile157Thr c.IVS2+1G>A c.1100delC | BRCA2:c.1146A>T (p.Lys382Asn) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Breast cancer research and treatment:2008 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 493 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast cancer research and treatment:2008 | |||||
CHEK2 gene | Breast Carcinoma | 74 | p.His371Tyr c.1111C>T c.1100delC | CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. Advances in therapy:2008 | ||||
CHEK2 gene BRCA2 gene | melanoma malignant melanoma | 630 | homozygous | p.Ile157Thr c.1100delC p.Asn372His p.Asn991Asp p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA2:c.1114A>C BRCA2:c.1114A>C (p.Asn372His) BRCA2:c.2971A>G BRCA2:c.2971A>G (p.Asn991Asp) BRCA2:c.2971_2983del (p.Asn991AspfsTer3) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) | Common variants of DNA repair genes and malignant melanoma. European journal of cancer (Oxford, England : 1990):2008 | ||||
APC gene CHEK2 gene | Adenomatous Polyposis Coli Colorectal Carcinoma Breast Carcinoma cancer hereditary nonpolyposis colorectal cancer hereditary breast and colorectal cancer | 132 | 369 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. Clinical cancer research : an official journal of the American Association for Cancer Research:2008 | ||||
CHEK2 gene | Breast Carcinoma | 4441 | c.IVS2+1G>A c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clinical genetics:2009 | ||||
CHEK2 gene | Breast Carcinoma | 668 | c.*1100delC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Familial cancer:2009 | ||||
NBN gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary | 354 | heterozygous | c.657_662del c.IVS2+1G>A c.1100delC c.6174delT c.300T>G c.185delAG c.4153delA c.5382insC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.469delA (p.Ser157Alafs) BRCA1:c.760delA (p.Ser254Alafs) BRCA1:c.763delA (p.Ser255Alafs) BRCA1:c.4282del (p.Ser1428fs) BRCA1:c.4141del (p.Ser1381fs) BRCA1:c.973del (p.Ser325fs) BRCA1:c.973delA (p.Ser325Alafs) BRCA1:c.4282del | High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hereditary cancer in clinical practice:2009 | ||||
CHEK2 gene | Breast Carcinoma Li-Fraumeni Syndrome fraumeni | 65 | p.Phe328Ser c.*1100delC c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.1566C>T CHEK2:c.1695C>T (p.Pro565=) CHEK2:c.903C>T (p.Pro301=) CHEK2:c.1365C>T (p.Pro455=) CHEK2:c.1566C>T (p.Pro522=) CHEK2:c.1479C>T (p.Pro493=) CHEK2:c.782T>C (p.Phe261Ser) CHEK2:c.983T>C (p.Phe328Ser) CHEK2:c.1112T>C (p.Phe371Ser) CHEK2:c.320T>C (p.Phe107Ser) CHEK2:c.983T>C | The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hereditary cancer in clinical practice:2009 | |||||
TP53 gene ERBB2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary breast and ovarian cancer breast and hereditary cancers | 91 | c.*1100delC c.1100delC | BRCA1:c.874C>T (p.Arg292Ter) BRCA1:c.871C>T (p.Arg291Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.817C>T (p.Arg273Ter) BRCA1:c.814C>T (p.Arg272Ter) BRCA2:c.4779A>C (p.Glu1593Asp) BRCA2:c.5130_5133del (p.Asp1709_Tyr1710insTer) BRCA2:c.2538A>C (p.Ser846=) BRCA1:c.4186-10G>A BRCA1:c.4045-10G>A BRCA1:c.877-10G>A BRCA1:c.709C>T (p.Gln237Ter) BRCA1:c.706C>T (p.Gln236Ter) BRCA1:c.586C>T (p.Gln196Ter) BRCA1:c.4399C>T (p.Gln1467Ter) BRCA1:c.4258C>T (p.Gln1420Ter) BRCA1:c.1087C>T (p.Gln363Ter) BRCA1:c.4462C>T (p.Gln1488Ter) BRCA2:c.2892A>T (p.Lys964Asn) CHEK2:c.1175C>T CHEK2:c.1304C>T (p.Ala435Val) CHEK2:c.512C>T (p.Ala171Val) CHEK2:c.974C>T (p.Ala325Val) CHEK2:c.1175C>T (p.Ala392Val) CHEK2:c.1088C>T (p.Ala363Val) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A BRCA1:c.1025_1026delAT (p.Asn342Argfs) BRCA1:c.1022_1023delAT (p.Asn341Argfs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction nucleaotide-sequencing | Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. Hereditary cancer in clinical practice:2009 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 23 | c.1100delC | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1100delC CHEK2:c.1229delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 1100delC and male breast cancer in the Netherlands. Breast cancer research and treatment:2009 | |||||
CHEK2 gene BRCA2 gene | Breast Carcinoma | c.IVS2+1G>A c.1100delC p.Ile157Thr p.Thr1915Met | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast cancer research and treatment:2009 | ||||||
CHEK2 gene | Colorectal Carcinoma | 631 | c.1100delC p.Ile157Thr | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. European journal of cancer (Oxford, England : 1990):2009 | |||||
CHEK2 gene | Breast Carcinoma | 1828 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2009 | |||||
MSH6 gene MLH1 gene MSH2 gene CHEK2 gene | Colorectal Carcinoma hereditary non-polyposis-colorectal cancer | 1 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutations and HNPCC-related colorectal cancer. International journal of cancer:2010 | ||||
CHEK2 gene | Squamous cell carcinoma of the head and neck Breast Carcinoma | 91 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | The checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN). Journal of negative results in biomedicine:2010 | ||||
PALB2 gene BRCA1 gene BRCA2 gene STK11 gene CHEK2 gene | Breast Carcinoma Peutz-Jeghers Syndrome peutz-jeghers li-fraumeni | 96 | c.1100delC | PALB2:c.2590C>T (p.Pro864Ser) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.2835-27C>T PALB2:c.2993G>A (p.Gly998Glu) PALB2:c.656A>G (p.Asp219Gly) PALB2:c.2442G>A (p.Glu814=) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) STK11:c.1185A>G (p.Thr395=) PALB2:c.3202-8G>T PALB2:c.1273G>A (p.Val425Met) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | autosomal dominant | Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genetic testing and molecular biomarkers:2010 | |||
CHEK2 gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene | Breast Carcinoma hereditary breast and colorectal cancer associated cancer hereditary non-polyposis colorectal cancer lynch syndrome | 68 | c.1100delC | MSH6:c.2633T>C (p.Val878Ala) MSH6:c.2243T>C (p.Val748Ala) MSH6:c.1727T>C (p.Val576Ala) MSH6:c.642C>T (p.Tyr214=) MSH6:c.252C>T (p.Tyr84=) MSH6:c.-265C>T MSH6:c.3246G>T (p.Pro1082=) MSH6:c.2856G>T (p.Pro952=) MSH6:c.2340G>T (p.Pro780=) MSH6:c.1508C>G (p.Ser503Cys) MSH6:c.1118C>G (p.Ser373Cys) MSH6:c.602C>G (p.Ser201Cys) MSH6:c.1508C>G MSH6:c.2775A>C (p.Gly925=) MSH6:c.2385A>C (p.Gly795=) MSH6:c.1869A>C (p.Gly623=) MSH6:c.4001+2TAAC[2] MSH6:c.3095+2TAAC[2] MSH6:c.3611+2TAAC[2] MSH6:c.4065_4066insTTGA MSH6:c.4068_4071dup (p.Lys1358delinsAspTer) MSH6:c.3678_3681dup (p.Lys1228delinsAspTer) MSH6:c.3162_3165dup (p.Lys1056delinsAspTer) MSH6:c.59C>T (p.Ala20Val) MSH6:c.-678C>T MSH6:c.73G>T (p.Ala25Ser) MSH6:c.-664G>T MSH6:c.751A>G (p.Ile251Val) MSH6:c.361A>G (p.Ile121Val) MSH6:c.-156A>G MSH6:c.2045C>T (p.Ser682Phe) MSH6:c.1655C>T (p.Ser552Phe) MSH6:c.1139C>T (p.Ser380Phe) MSH6:c.3557-4dup MSH6:c.2651-4dup MSH6:c.3167-4dup MSH6:c.1053C>T (p.His351=) MSH6:c.663C>T (p.His221=) MSH6:c.147C>T (p.His49=) MSH6:c.2775A>G (p.Gly925=) MSH6:c.2385A>G (p.Gly795=) MSH6:c.1869A>G (p.Gly623=) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Association of rare MSH6 variants with familial breast cancer. Breast cancer research and treatment:2010 | |||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 1303 | CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.1166G>T (p.Arg389Leu) CHEK2:c.374G>T (p.Arg125Leu) CHEK2:c.836G>T (p.Arg279Leu) CHEK2:c.1037G>T (p.Arg346Leu) CHEK2:c.1009-1086G>T CHEK2:c.1037G>T CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.405delA CHEK2:c.534del (p.Lys178fs) CHEK2:c.-373del CHEK2:c.405del (p.Lys135fs) CHEK2:c.1528C>T CHEK2:c.1657C>T (p.Gln553Ter) CHEK2:c.865C>T (p.Gln289Ter) CHEK2:c.1327C>T (p.Gln443Ter) CHEK2:c.1528C>T (p.Gln510Ter) CHEK2:c.1441C>T (p.Gln481Ter) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | premature stop | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast cancer research : BCR:2011 | |||||
LRP1 gene MUCL1 gene CALCOCO1 gene CLCA1 gene CHEK2 gene | Breast Carcinoma breast | 126 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | comparative genomic hybridization | premature stop | Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. Breast cancer research : BCR:2011 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma hereditary breast cancer | 507 | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 contribution to hereditary breast cancer in non-BRCA families. Breast cancer research : BCR:2011 | |||||
CHEK2 gene | Breast Carcinoma | homozygous heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. Journal of medical genetics:2011 | |||||
CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Carcinoma Malignant neoplasm of ovary Breast Carcinoma hereditary breast ovarian cancer | 100 | c.1100delC c.6589delA c.1166delG c.1938_1947_19381957del c.80+4_84del | BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA1:c.874C>T (p.Arg292Ter) BRCA1:c.871C>T (p.Arg291Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.817C>T (p.Arg273Ter) BRCA1:c.814C>T (p.Arg272Ter) BRCA1:c.2140C>T (p.Arg714Trp) BRCA1:c.2377C>T (p.Arg793Trp) BRCA1:c.2017C>T (p.Arg673Trp) BRCA1:c.1633C>T (p.Arg545Trp) BRCA1:c.2521C>T (p.Arg841Trp) BRCA1:c.2380C>T (p.Arg794Trp) BRCA1:c.787+1734C>T BRCA1:c.699_702delCTCA (p.Ser234Tyrfs) BRCA1:c.702_705delCTCA (p.Ser235Tyrfs) BRCA1:c.-73G>A BRCA1:c.116G>A (p.Cys39Tyr) BRCA1:c.-26G>A BRCA1:c.3895G>A (p.Glu1299Lys) BRCA1:c.4845+4A>C BRCA1:c.1674+4A>C BRCA1:c.4986+4A>C BRCA1:c.5049+4A>C BRCA1:c.430delG (p.Glu144Lysfs) BRCA1:c.721delG (p.Glu241Lysfs) BRCA1:c.724delG (p.Glu242Lysfs) BRCA1:c.4243delG (p.Glu1415Lysfs) BRCA1:c.4243del (p.Glu1415fs) BRCA1:c.4102del (p.Glu1368fs) BRCA1:c.934del (p.Glu312fs) BRCA1:c.934delG (p.Glu312Lysfs) BRCA2:c.7878G>C (p.Trp2626Cys) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) BRCA1:c.1933G>A (p.Asp645Asn) BRCA1:c.1573G>A (p.Asp525Asn) BRCA1:c.1189G>A (p.Asp397Asn) BRCA1:c.2077G>A (p.Asp693Asn) BRCA1:c.1936G>A (p.Asp646Asn) BRCA1:c.787+1290G>A BRCA1:c.2077G>A BRCA2:c.4928T>C (p.Val1643Ala) BRCA2:c.67+1G>T BRCA2:c.3075G>T (p.Lys1025Asn) BRCA2:c.8723T>G (p.Val2908Gly) BRCA1:c.115T>C (p.Cys39Arg) BRCA1:c.-8+8272T>C BRCA1:c.1559C>G (p.Pro520Arg) BRCA1:c.1562C>G (p.Pro521Arg) BRCA1:c.1672_1681delAGCAGTGAAG (p.Ser558Argfs) BRCA1:c.1669_1678delAGCAGTGAAG (p.Ser557Argfs) BRCA1:c.2271G>C (p.Gln757His) BRCA1:c.2711T>A (p.Leu904Ter) BRCA1:c.2708T>A (p.Leu903Ter) BRCA1:c.3037G>A (p.Val1013Ile) BRCA1:c.2653G>A (p.Val885Ile) BRCA1:c.937G>A (p.Val313Ile) BRCA1:c.3541G>A (p.Val1181Ile) BRCA1:c.3400G>A (p.Val1134Ile) BRCA1:c.788-958G>A BRCA1:c.4986+4A>T BRCA1:c.4845+4A>T BRCA1:c.1674+4A>T BRCA1:c.5049+4A>T BRCA1:c.1270_1271delTT (p.Phe424Cysfs) BRCA1:c.1243_1244delTT (p.Phe415Cysfs) BRCA1:c.847_848delTT (p.Phe283Cysfs) BRCA1:c.5083_5084delTT (p.Phe1695Cysfs) BRCA1:c.5084_5085del (p.Phe1695fs) BRCA1:c.4943_4944del (p.Phe1648fs) BRCA1:c.1772_1773del (p.Phe591fs) BRCA1:c.1771_1772delTT (p.Phe591Cysfs) BRCA1:c.5147_5148del (p.Phe1716fs) BRCA1:c.1517_1519GAG[1] (p.Gly507del) BRCA1:c.1397_1399GAG[1] (p.Gly467del) BRCA1:c.1370_1372GAG[1] (p.Gly458del) BRCA1:c.974_976GAG[1] (p.Gly326del) BRCA1:c.5210GAG[1] (p.Gly1738del) BRCA1:c.5069GAG[1] (p.Gly1691del) BRCA1:c.1898GAG[1] (p.Gly634del) BRCA1:c.1898_1900GAG[1] (p.Gly634del) BRCA1:c.5273GAG[1] (p.Gly1759del) BRCA1:c.1697G>A (p.Trp566Ter) BRCA1:c.1670G>A (p.Trp557Ter) BRCA1:c.1274G>A (p.Trp425Ter) BRCA1:c.5510G>A (p.Trp1837Ter) BRCA1:c.5369G>A (p.Trp1790Ter) BRCA1:c.2198G>A (p.Trp733Ter) BRCA1:c.*24G>A BRCA1:c.5573G>A (p.Trp1858Ter) BRCA2:c.1909+22del BRCA1:c.3233C>A (p.Thr1078Asn) BRCA1:c.2849C>A (p.Thr950Asn) BRCA1:c.1133C>A (p.Thr378Asn) BRCA1:c.3737C>A (p.Thr1246Asn) BRCA1:c.3596C>A (p.Thr1199Asn) BRCA1:c.788-762C>A BRCA1:c.4243del (p.Glu1415LysfsTer4) BRCA1:c.4102del (p.Glu1368LysfsTer4) BRCA1:c.934del (p.Glu312LysfsTer4) BRCA1:c.5084_5085del (p.Phe1695CysfsTer3) BRCA1:c.4943_4944del (p.Phe1648CysfsTer3) BRCA1:c.1772_1773del (p.Phe591CysfsTer3) BRCA1:c.5147_5148del (p.Phe1716CysfsTer3) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. Breast cancer research and treatment:2011 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma bilateral breast/ovarian cancer | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Genomic large rearrangement screening of BRCA1 and BRCA2 genes in high-risk Turkish breast/ovarian cancer patients by using multiplex ligation-dependent probe amplification assay. Cancer investigation:2011 | ||||||
CHEK2 gene | Colorectal Carcinoma | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. European journal of cancer (Oxford, England : 1990):2011 | ||||||
CHEK2 gene | Breast Carcinoma breast and ovarian cancer breast/ovarian | 284 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort. Journal of applied genetics:2011 | |||||
CHEK2 gene | Thrombocytosis Thrombocythemia, Essential myeloid and lymphoid malignancies | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. Haematologica:2012 | ||||||
CHEK2 gene | malignant melanoma | 1152 | heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | frameshift | CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. The Journal of investigative dermatology:2012 | |||
CHEK2 gene | Breast Carcinoma | 29154 | heterozygous | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls. Asian Pacific journal of cancer prevention : APJCP:2012 | ||||
CHEK2 gene | Colorectal Carcinoma | 210 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population. Cancer epidemiology:2012 | ||||
ATM gene CHEK2 gene | Breast Carcinoma Ataxia Telangiectasia hereditary breast and colorectal cancer syndrome breast and colorectal cancers breast and colorectal cancer | 59 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. Arquivos de gastroenterologia:2012 | ||||
CHEK2 gene | Breast Carcinoma breast | 155 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes. Breast cancer research and treatment:2012 | |||||
CHEK2 gene BRCA1 gene | Breast Carcinoma | 1255 | c.IVS2+1G>A c.1100delC p.Ile157Thr | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop | Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast cancer research and treatment:2012 | ||||
CHEK2 gene | Breast Carcinoma | 25571 | heterozygous | c.*1100delC | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2012 | ||||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||||
CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary Breast Carcinoma hereditary breast and breast and | 103 | c.1100delC p.Ile1167Val | BRCA2:c.6468_6469del (p.Gln2157fs) BRCA2:c.3499A>G (p.Ile1167Val) BRCA2:c.5225_5230del (p.Asn1742_Ser1743del) BRCA2:c.5225_5230delACAGTA BRCA2:c.3900_3902del (p.Met1300_Thr1301delinsIle) BRCA2:c.8754+4A>G BRCA2:c.9382C>T (p.Arg3128Ter) BRCA2:c.4131_4132insTGAGGA (p.Thr1378Ter) BRCA1:c.3224dup (p.Gln1076Serfs) BRCA1:c.3209dup (p.Gln1071Serfs) BRCA1:c.3351dup (p.Gln1118SerfsTer4) BRCA1:c.3210dup (p.Gln1071SerfsTer4) BRCA1:c.788-1148dup (n.788-1148dup) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer. Clinical chemistry and laboratory medicine:2012 | |||||
CHEK2 gene TP53 gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene BRCA2 gene BRCA1 gene | Breast Carcinoma Papillary serous endometrial carcinoma li-fraumeni lynch lynch syndrome hereditary breast and ovarian carcinoma | 151 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C TP53:c.422G>A (p.Arg141His) TP53:c.701G>A (p.Arg234His) TP53:c.341G>A (p.Arg114His) BRCA1:c.1321C>T (p.Leu441Phe) BRCA1:c.1411C>T (p.Leu471Phe) BRCA1:c.1270C>T (p.Leu424Phe) BRCA1:c.2331delC (p.Asp777Glufs) BRCA1:c.2334delC (p.Asp778Glufs) BRCA1:c.2262delC (p.Asp754Glufs) BRCA1:c.2475delC (p.Asp825Glufs) BRCA1:c.2472delC (p.Asp824Glufs) BRCA1:c.3209C>T (p.Pro1070Leu) BRCA1:c.2825C>T (p.Pro942Leu) BRCA1:c.1109C>T (p.Pro370Leu) BRCA1:c.3713C>T (p.Pro1238Leu) BRCA1:c.3572C>T (p.Pro1191Leu) BRCA1:c.788-786C>T BRCA1:c.594-2A>C BRCA1:c.453-2A>C BRCA1:c.641A>G (p.Asp214Gly) BRCA1:c.638A>G (p.Asp213Gly) BRCA2:c.4585G>A (p.Gly1529Arg) BRCA2:c.4915G>A (p.Val1639Ile) BRCA2:c.5070A>C (p.Lys1690Asn) BRCA2:c.3569G>A (p.Arg1190Gln) BRCA2:c.6347A>G (p.His2116Arg) BRCA2:c.2960A>T (p.Asn987Ile) BRCA2:c.2960A>T BRCA2:c.4681C>A (p.His1561Asn) BRCA2:c.5635G>A (p.Glu1879Lys) BRCA2:c.6412G>T (p.Val2138Phe) BRCA2:c.673A>G (p.Thr225Ala) BRCA2:c.9816T>G (p.Asp3272Glu) BRCA1:c.1046A>G (p.His349Arg) BRCA1:c.1283A>G (p.His428Arg) BRCA1:c.923A>G (p.His308Arg) BRCA1:c.539A>G (p.His180Arg) BRCA1:c.1427A>G (p.His476Arg) BRCA1:c.1286A>G (p.His429Arg) BRCA1:c.787+640A>G BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) TP53:c.392G>A (p.Arg131His) TP53:c.869G>A TP53:c.869G>A (p.Arg290His) TP53:c.752G>A (p.Arg251His) TP53:c.473G>A (p.Arg158His) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) BRCA1:c.2353A>C (p.Lys785Gln) BRCA1:c.2590A>C (p.Lys864Gln) BRCA1:c.2230A>C (p.Lys744Gln) BRCA1:c.1846A>C (p.Lys616Gln) BRCA1:c.2734A>C (p.Lys912Gln) BRCA1:c.2593A>C (p.Lys865Gln) BRCA1:c.788-1765A>C | nucleaotide-sequencing | BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer:2013 | |||||
CHEK2 gene | Breast Carcinoma breast/ovarian cancer breast and ovarian hereditary breast/ovarian cancer | 57 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction nucleaotide-sequencing | CHEK2 1100delC and Del5395bp mutations in BRCA-negative individuals from Serbian hereditary breast and ovarian cancer families. Journal of B.U.ON. : official journal of the Balkan Union of Oncology:2013 | ||||
CHEK2 gene | Stomach Carcinoma breast and prostate cancers | 658 | p.Ile157Thr c.IVS2G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | The risk of gastric cancer in carriers of CHEK2 mutations. Familial cancer:2013 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer many breast cancers | 106 | p.Met784Val c.5382insC c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA2:c.2350A>G (p.Met784Val) | Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer. Asian Pacific journal of cancer prevention : APJCP:2013 | |||||
CHEK2 gene ATM gene PALB2 gene STK11 gene PTEN gene TP53 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | 7 | c.1100delC | CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing sanger sequencing | Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PloS one:2013 | ||||
CHEK2 gene | Liver carcinoma | 165 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism polymerase chain reaction | CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. Gene:2013 | ||||
CHEK2 gene | Breast Carcinoma breast | 2188 | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | Excess breast cancer risk in first degree relatives of CHEK21100delC positive familial breast cancer cases. European journal of cancer (Oxford, England : 1990):2013 | ||||||
MSH2 gene MLH1 gene TP53 gene | Colon Carcinoma Breast Carcinoma melanoma Glioma | 146 | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | multiplex ligation-dependent probe amplification | Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. Neuro-oncology:2014 | |||||
CDH1 gene MSH6 gene MSH2 gene MLH1 gene PALB2 gene BRIP1 gene RAD51 gene RAD50 gene NBN gene ATM gene PTEN gene CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer hereditary breast and ovarian cancer | 120 | c.1100delC p.Arg337His | BRCA2:c.2808_2811del (p.Ala938fs) BRCA2:c.5946del (p.Ser1982fs) TP53:c.614G>A (p.Arg205His) TP53:c.*117G>A TP53:c.*29G>A TP53:c.893G>A (p.Arg298His) TP53:c.533G>A (p.Arg178His) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA1:c.1573delA (p.Lys527Serfs) BRCA1:c.1810delA (p.Lys606Serfs) BRCA1:c.1450delA (p.Lys486Serfs) BRCA1:c.1066delA (p.Lys358Serfs) BRCA1:c.1954delA (p.Lys654Serfs) BRCA1:c.1961del (p.Lys654fs) BRCA1:c.1820del (p.Lys607fs) BRCA1:c.787+1174del BRCA1:c.2995_2998delAAGC (p.Gln1000Asnfs) BRCA1:c.3205_3208delAAGC (p.Gln1070Asnfs) BRCA1:c.2992_2995delAAGC (p.Gln999Asnfs) BRCA1:c.5081T>C (p.Met1694Thr) BRCA1:c.5078T>C (p.Met1693Thr) BRCA1:c.5015T>C (p.Met1672Thr) BRCA1:c.5012T>C (p.Met1671Thr) BRCA2:c.6131G>T (p.Gly2044Val) BRCA2:c.964A>C (p.Lys322Gln) BRCA2:c.10234A>G BRCA2:c.10234A>G (p.Ile3412Val) BRCA2:c.2350A>G (p.Met784Val) BRCA2:c.5744C>T BRCA2:c.5744C>T (p.Thr1915Met) BRCA2:c.8830A>T (p.Ile2944Phe) BRCA2:c.4599A>C (p.Lys1533Asn) BRCA2:c.4681C>A (p.His1561Asn) BRCA2:c.1483G>A (p.Ala495Thr) BRCA2:c.6412G>T (p.Val2138Phe) BRCA2:c.8195T>G (p.Leu2732Ter) BRCA2:c.9085G>A (p.Ala3029Thr) BRCA2:c.9382C>T (p.Arg3128Ter) BRCA2:c.5972C>T (p.Ala1991Val) BRCA1:c.999dup (p.Phe334Ilefs) BRCA1:c.1236dup (p.Phe413Ilefs) BRCA1:c.876dup (p.Phe293Ilefs) BRCA1:c.492dup (p.Phe165Ilefs) BRCA1:c.1380dup (p.Phe461Ilefs) BRCA1:c.1380dup (p.Phe461fs) BRCA1:c.1239dup (p.Phe414fs) BRCA1:c.787+593dup BRCA1:c.188T>A (p.Leu63Ter) BRCA1:c.-188A>G BRCA1:c.-307A>G BRCA1:c.1A>G (p.Met1Val) BRCA1:c.-87A>G BRCA1:c.2020_2021TG[2] (p.Val675Glufs) BRCA1:c.2257_2258TG[2] (p.Val754Glufs) BRCA1:c.1897_1898TG[2] (p.Val634Glufs) BRCA1:c.1513_1514TG[2] (p.Val506Glufs) BRCA1:c.2401_2402TG[2] (p.Val802Glufs) BRCA1:c.2405_2406del (p.Val802fs) BRCA1:c.2264_2265del (p.Val755fs) BRCA1:c.787+1614TG[2] BRCA1:c.3136G>T (p.Glu1046Ter) BRCA1:c.2752G>T (p.Glu918Ter) BRCA1:c.1036G>T (p.Glu346Ter) BRCA1:c.3640G>T (p.Glu1214Ter) BRCA1:c.3499G>T (p.Glu1167Ter) BRCA1:c.788-859G>T BRCA1:c.3207A>G (p.Ile1069Met) BRCA1:c.2823A>G (p.Ile941Met) BRCA1:c.1107A>G (p.Ile369Met) BRCA1:c.3711A>G (p.Ile1237Met) BRCA1:c.3570A>G (p.Ile1190Met) BRCA1:c.788-788A>G BRCA1:c.529A>G (p.Ser177Gly) BRCA1:c.820A>G (p.Ser274Gly) BRCA1:c.823A>G (p.Ser275Gly) BRCA1:c.4342A>G (p.Ser1448Gly) BRCA1:c.4201A>G (p.Ser1401Gly) BRCA1:c.1033A>G (p.Ser345Gly) BRCA1:c.300+2T>A BRCA1:c.441+2T>A BRCA1:c.4738+1G>A BRCA1:c.4675+1G>A BRCA1:c.4534+1G>A BRCA1:c.1363+1G>A BRCA1:c.1015_1019delCTCTT (p.Phe340Terfs) BRCA1:c.895_899delCTCTT (p.Phe300Terfs) BRCA1:c.868_872delCTCTT (p.Phe291Terfs) BRCA1:c.4708_4712delCTCTT (p.Phe1571Terfs) BRCA1:c.4712_4716del (p.Leu1570_Phe1571insTer) BRCA1:c.4571_4575del (p.Leu1523_Phe1524insTer) BRCA1:c.1400_1404del (p.Leu466_Phe467insTer) BRCA1:c.1396_1400delCTCTT (p.Phe467Terfs) BRCA1:c.4775_4779del (p.Leu1591_Phe1592insTer) BRCA1:c.1318G>A (p.Ala440Thr) BRCA1:c.1294G>A (p.Ala432Thr) BRCA1:c.1288G>A (p.Ala430Thr) BRCA1:c.1270G>A (p.Ala424Thr) BRCA1:c.1267G>A (p.Ala423Thr) BRCA1:c.1601C>A (p.Ala534Glu) BRCA1:c.1598C>A (p.Ala533Glu) BRCA1:c.1574C>A (p.Ala525Glu) BRCA1:c.1568C>A (p.Ala523Glu) BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.1631G>A (p.Trp544Ter) BRCA1:c.1604G>A (p.Trp535Ter) BRCA1:c.1208G>A (p.Trp403Ter) BRCA1:c.5444G>A (p.Trp1815Ter) BRCA1:c.5303G>A (p.Trp1768Ter) BRCA1:c.2132G>A (p.Trp711Ter) BRCA1:c.2058G>A (p.Leu686_Asp687=) BRCA1:c.5507G>A (p.Trp1836Ter) BRCA1:c.3116T>A (p.Leu1039Ter) BRCA1:c.3257T>A (p.Leu1086Ter) BRCA1:c.788-1242T>A BRCA1:c.2876T>G (p.Leu959Ter) BRCA1:c.3113T>G (p.Leu1038Ter) BRCA1:c.2753T>G (p.Leu918Ter) BRCA1:c.2369T>G (p.Leu790Ter) BRCA1:c.3257T>G (p.Leu1086Ter) BRCA1:c.3116T>G (p.Leu1039Ter) BRCA1:c.788-1242T>G BRCA1:c.855C>A (p.Tyr285Ter) BRCA1:c.858C>A (p.Tyr286Ter) BRCA1:c.852C>A (p.Tyr284Ter) BRCA2:c.9481A>T (p.Lys3161Ter) BRCA1:c.1270_1271delTT (p.Phe424Cysfs) BRCA1:c.1243_1244delTT (p.Phe415Cysfs) BRCA1:c.847_848delTT (p.Phe283Cysfs) BRCA1:c.5083_5084delTT (p.Phe1695Cysfs) BRCA1:c.5084_5085del (p.Phe1695fs) BRCA1:c.4943_4944del (p.Phe1648fs) BRCA1:c.1772_1773del (p.Phe591fs) BRCA1:c.1771_1772delTT (p.Phe591Cysfs) BRCA1:c.5147_5148del (p.Phe1716fs) BRCA2:c.1096T>G (p.Leu366Val) BRCA2:c.7469T>C (p.Ile2490Thr) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) TP53:c.31G>A (p.Val11Met) TP53:c.310G>A (p.Val104Met) TP53:c.-51G>A TP53:c.427G>A BRCA1:c.946A>T (p.Lys316Ter) BRCA1:c.1183A>T (p.Lys395Ter) BRCA1:c.823A>T (p.Lys275Ter) BRCA1:c.439A>T (p.Lys147Ter) BRCA1:c.1327A>T (p.Lys443Ter) BRCA1:c.1186A>T (p.Lys396Ter) BRCA1:c.787+540A>T BRCA1:c.4675+2T>G BRCA1:c.4534+2T>G BRCA1:c.1363+2T>G BRCA1:c.4738+2T>G BRCA1:c.1363+2T>C BRCA1:c.4675+2T>C BRCA1:c.4534+2T>C BRCA1:c.4738+2T>C BRCA2:c.6550C>T (p.Gln2184Ter) BRCA2:c.4698C>T (p.Thr1566=) BRCA2:c.4740_4741dup (p.Glu1581fs) BRCA2:c.1324T>G (p.Ser442Ala) BRCA2:c.2266C>T (p.Gln756Ter) BRCA2:c.6014_6017del (p.Asp2005fs) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) BRCA2:c.4962T>A (p.Cys1654Ter) BRCA2:c.1370A>G (p.Lys457Arg) BRCA1:c.5316_5317insT (p.His1773Serfs) BRCA1:c.5127_5128insT (p.His1710Serfs) BRCA1:c.5124_5125insT (p.His1709Serfs) BRCA1:c.5082_5083insT (p.His1695Serfs) BRCA1:c.5079_5080insT (p.His1694Serfs) BRCA1:c.5076_5077insT (p.His1693Serfs) BRCA1:c.4075T>C (p.Ser1359Pro) BRCA1:c.4072T>C (p.Ser1358Pro) BRCA1:c.2359T>C (p.Ser787Pro) BRCA1:c.2356T>C (p.Ser786Pro) BRCA1:c.1720T>C (p.Ser574Pro) BRCA1:c.1717T>C (p.Ser573Pro) BRCA1:c.1654T>C (p.Ser552Pro) BRCA1:c.787+540A>T (n.787+540A>T) BRCA1:c.4712_4716del (p.Phe1571Ter) BRCA1:c.4571_4575del (p.Phe1524Ter) BRCA1:c.1400_1404del (p.Phe467Ter) BRCA1:c.4775_4779del (p.Phe1592Ter) BRCA1:c.5463_5464insT (p.His1822SerfsTer8) BRCA1:c.5322_5323insT (p.His1775SerfsTer8) BRCA1:c.2151_2152insT (p.His718SerfsTer8) BRCA1:c.2077_2078insT (p.Pro693LeufsTer13) BRCA1:c.5526_5527insT (p.His1843SerfsTer8) BRCA2:c.6014_6017del (p.Asp2005ValfsTer?) ATM:c.1010G>A (p.Arg337His) | nucleaotide-sequencing multiplex ligation-dependent probe amplification comparative genomic hybridization | point mutation splice site mutation | Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC medical genetics:2014 | |||
CHEK2 gene | Breast Carcinoma | 420 | p.Ile157Thr c.1100delC | CHEK2:c.1008+1G>C CHEK2:c.807+1G>C CHEK2:c.345+1G>C CHEK2:c.1137+1G>C CHEK2:c.1489_1490insCA (p.Glu497fs) CHEK2:c.697_698insCA (p.Glu233fs) CHEK2:c.1159_1160insCA (p.Glu387fs) CHEK2:c.1360_1361insCA (p.Glu454fs) CHEK2:c.1273_1274insCA (p.Glu425fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.1259+1G>C CHEK2:c.1172+1G>C CHEK2:c.1058+1G>C CHEK2:c.596+1G>C CHEK2:c.1388+1G>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.58C>T CHEK2:c.58C>T (p.Gln20Ter) CHEK2:c.-720C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.1260-1G>A CHEK2:c.1173-1G>A CHEK2:c.1059-1G>A CHEK2:c.597-1G>A CHEK2:c.1389-1G>A CHEK2:c.1140C>A (p.Tyr380Ter) CHEK2:c.348C>A (p.Tyr116Ter) CHEK2:c.810C>A (p.Tyr270Ter) CHEK2:c.1011C>A (p.Tyr337Ter) CHEK2:c.1009-1112C>A CHEK2:c.1011C>A CHEK2:c.902delT CHEK2:c.1031del (p.Leu344fs) CHEK2:c.239del (p.Leu80fs) CHEK2:c.701del (p.Leu234fs) CHEK2:c.902del (p.Leu301fs) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.790_793dup (p.Met265fs) CHEK2:c.-3_1dup (p.Met1fs) CHEK2:c.661_664dup (p.Met222fs) CHEK2:c.482+5469_482+5472dup CHEK2:c.661_664dupATCA CHEK2:c.655delG CHEK2:c.784del (p.Glu262fs) CHEK2:c.-9del CHEK2:c.655del (p.Glu219fs) CHEK2:c.482+5463del CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T CHEK2:c.846+1G>C CHEK2:c.645+1G>C CHEK2:c.183+1G>C CHEK2:c.975+1G>C CHEK2:c.792+2T>C CHEK2:c.591+2T>C CHEK2:c.129+2T>C CHEK2:c.921+2T>C CHEK2:c.1232G>A CHEK2:c.1361G>A (p.Trp454Ter) CHEK2:c.569G>A (p.Trp190Ter) CHEK2:c.1031G>A (p.Trp344Ter) CHEK2:c.1232G>A (p.Trp411Ter) CHEK2:c.1145G>A (p.Trp382Ter) CHEK2:c.372delC CHEK2:c.501del (p.Phe168fs) CHEK2:c.-406del CHEK2:c.372del (p.Phe125fs) CHEK2:c.276dupC CHEK2:c.276dup (p.Trp93fs) CHEK2:c.-502dup CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CHEK2:c.1376-1G>A CHEK2:c.1289-1G>A CHEK2:c.1175-1G>A CHEK2:c.713-1G>A CHEK2:c.1505-1G>A CHEK2:c.1375+1_1375+2delGT CHEK2:c.1288+1_1288+2del CHEK2:c.1174+1_1174+2del CHEK2:c.1375+1_1375+2del CHEK2:c.712+1_712+2del CHEK2:c.1504+1_1504+2del CHEK2:c.1315C>T CHEK2:c.1444C>T (p.Gln482Ter) CHEK2:c.652C>T (p.Gln218Ter) CHEK2:c.1114C>T (p.Gln372Ter) CHEK2:c.1315C>T (p.Gln439Ter) CHEK2:c.1228C>T (p.Gln410Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.920delG CHEK2:c.1049del (p.Gly350fs) CHEK2:c.257del (p.Gly86fs) CHEK2:c.719del (p.Gly240fs) CHEK2:c.920del (p.Gly307fs) CHEK2:c.875_876delTT CHEK2:c.1004_1005del (p.Phe334_Phe335insTer) CHEK2:c.212_213del (p.Phe70_Phe71insTer) CHEK2:c.674_675del (p.Phe224_Phe225insTer) CHEK2:c.875_876del (p.Phe291_Phe292insTer) CHEK2:c.876dupT CHEK2:c.1005dup (p.Asp336Ter) CHEK2:c.213dup (p.Asp72Ter) CHEK2:c.675dup (p.Asp226Ter) CHEK2:c.876dup (p.Asp293Ter) CHEK2:c.304G>T CHEK2:c.304G>T (p.Gly102Ter) CHEK2:c.-474G>T CHEK2:c.14_20delCGGATGT CHEK2:c.14_20del (p.Ser5fs) CHEK2:c.-764_-758del CHEK2:c.1201C>T (p.Gln401Ter) CHEK2:c.409C>T (p.Gln137Ter) CHEK2:c.871C>T (p.Gln291Ter) CHEK2:c.1072C>T (p.Gln358Ter) CHEK2:c.1009-1051C>T CHEK2:c.1072C>T CHEK2:c.683+1G>C CHEK2:c.482+5492G>C CHEK2:c.20+1G>C CHEK2:c.812+1G>C CHEK2:c.606delT CHEK2:c.735del (p.Phe245fs) CHEK2:c.-58del CHEK2:c.606del (p.Phe202fs) CHEK2:c.482+5414del CHEK2:c.507delT CHEK2:c.636del (p.Phe212fs) CHEK2:c.-271del CHEK2:c.507del (p.Phe169fs) CHEK2:c.445-139del CHEK2:c.1462-1G>A CHEK2:c.1375-1G>A CHEK2:c.1261-1G>A CHEK2:c.799-1G>A CHEK2:c.1591-1G>A CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.783_784delAA CHEK2:c.912_913del (p.Glu306fs) CHEK2:c.120_121del (p.Glu42fs) CHEK2:c.582_583del (p.Glu196fs) CHEK2:c.783_784del (p.Glu263fs) CHEK2:c.673dupA CHEK2:c.802dup (p.Thr268fs) CHEK2:c.10dup (p.Thr4fs) CHEK2:c.673dup (p.Thr225fs) CHEK2:c.482+5477dup CHEK2:c.31dupC CHEK2:c.31dup (p.Gln11fs) CHEK2:c.-747dup CHEK2:c.444+2T>C CHEK2:c.-334+2T>C CHEK2:c.573+2T>C CHEK2:c.282delT CHEK2:c.282del (p.Arg95fs) CHEK2:c.-496del CHEK2:c.1009-2A>G CHEK2:c.1009-1116A>G CHEK2:c.808-2A>G CHEK2:c.346-2A>G CHEK2:c.1138-2A>G CHEK2:c.417C>A CHEK2:c.546C>A (p.Tyr182Ter) CHEK2:c.-361C>A CHEK2:c.417C>A (p.Tyr139Ter) CHEK2:c.1259+2delT CHEK2:c.1172+2del CHEK2:c.1058+2del CHEK2:c.1259+2del CHEK2:c.596+2del CHEK2:c.1388+2del CHEK2:c.870del CHEK2:c.999del (p.Phe335fs) CHEK2:c.207del (p.Phe71fs) CHEK2:c.669del (p.Phe225fs) CHEK2:c.870del (p.Phe292fs) CHEK2:c.366delA CHEK2:c.495del (p.Glu165fs) CHEK2:c.-412del CHEK2:c.366del (p.Glu122fs) CHEK2:c.247C>T CHEK2:c.247C>T (p.Gln83Ter) CHEK2:c.-531C>T CHEK2:c.219_223delTATTC CHEK2:c.219_223del (p.Ser73_Ile74insTer) CHEK2:c.-564TATTC[1] CHEK2:c.109_119delGGCATATCCAG CHEK2:c.109_119del (p.Gly37fs) CHEK2:c.-669_-659del CHEK2:c.762delG CHEK2:c.891del (p.Lys298fs) CHEK2:c.99del (p.Lys34fs) CHEK2:c.561del (p.Lys188fs) CHEK2:c.762del (p.Lys255fs) CHEK2:c.326_327delTG CHEK2:c.455_456del (p.Val152fs) CHEK2:c.-456TG[2] CHEK2:c.326_327del (p.Val109fs) CHEK2:c.1163_1164dup CHEK2:c.1292_1293dup (p.Thr432fs) CHEK2:c.500_501dup (p.Thr168fs) CHEK2:c.962_963dup (p.Thr322fs) CHEK2:c.1163_1164dup (p.Thr389fs) CHEK2:c.1076_1077dup (p.Thr360fs) CHEK2:c.1008+1G>T CHEK2:c.807+1G>T CHEK2:c.345+1G>T CHEK2:c.1137+1G>T CHEK2:c.319+1G>C CHEK2:c.-459+1G>C CHEK2:c.616_617delGT CHEK2:c.745_746del (p.Val249fs) CHEK2:c.-48_-47del CHEK2:c.616_617del (p.Val206fs) CHEK2:c.482+5424_482+5425del CHEK2:c.529A>T CHEK2:c.658A>T (p.Lys220Ter) CHEK2:c.-249A>T CHEK2:c.529A>T (p.Lys177Ter) CHEK2:c.445-117A>T CHEK2:c.793-2A>G CHEK2:c.592-2A>G CHEK2:c.130-2A>G CHEK2:c.922-2A>G CHEK2:c.792+1G>A CHEK2:c.591+1G>A CHEK2:c.129+1G>A CHEK2:c.921+1G>A CHEK2:c.757A>T CHEK2:c.886A>T (p.Lys296Ter) CHEK2:c.94A>T (p.Lys32Ter) CHEK2:c.556A>T (p.Lys186Ter) CHEK2:c.757A>T (p.Lys253Ter) CHEK2:c.1375+2T>A CHEK2:c.1288+2T>A CHEK2:c.1174+2T>A CHEK2:c.712+2T>A CHEK2:c.1504+2T>A CHEK2:c.151C>T CHEK2:c.151C>T (p.Gln51Ter) CHEK2:c.-627C>T CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1443_1444delAA CHEK2:c.1572_1573del (p.Arg525fs) CHEK2:c.780_781del (p.Arg261fs) CHEK2:c.1242_1243del (p.Arg415fs) CHEK2:c.1443_1444del (p.Arg482fs) CHEK2:c.1356_1357del (p.Arg453fs) CHEK2:c.1063delC CHEK2:c.1192del (p.Leu398fs) CHEK2:c.400del (p.Leu134fs) CHEK2:c.862del (p.Leu288fs) CHEK2:c.1063del (p.Leu355fs) CHEK2:c.1009-1060del CHEK2:c.468C>A CHEK2:c.597C>A (p.Tyr199Ter) CHEK2:c.-310C>A CHEK2:c.468C>A (p.Tyr156Ter) CHEK2:c.444+142C>A CHEK2:c.1096-1G>T CHEK2:c.1009-1G>T CHEK2:c.895-1G>T CHEK2:c.433-1G>T CHEK2:c.1225-1G>T CHEK2:c.448delG CHEK2:c.577del (p.Val193fs) CHEK2:c.-330del CHEK2:c.448del (p.Val150fs) CHEK2:c.444+122del CHEK2:c.292delG CHEK2:c.292del (p.Ala98fs) CHEK2:c.-486del CHEK2:c.1096delA CHEK2:c.1225del (p.Ile409fs) CHEK2:c.433del (p.Ile145fs) CHEK2:c.895del (p.Ile299fs) CHEK2:c.1096del (p.Ile366fs) CHEK2:c.1009del (p.Ile337fs) CHEK2:c.836delA CHEK2:c.965del (p.Lys322fs) CHEK2:c.173del (p.Lys58fs) CHEK2:c.635del (p.Lys212fs) CHEK2:c.836del (p.Lys279fs) CHEK2:c.1454G>A CHEK2:c.1583G>A (p.Trp528Ter) CHEK2:c.791G>A (p.Trp264Ter) CHEK2:c.1253G>A (p.Trp418Ter) CHEK2:c.1454G>A (p.Trp485Ter) CHEK2:c.1367G>A (p.Trp456Ter) CHEK2:c.1188_1194dupTGTTTCT CHEK2:c.1317_1323dup (p.Val442fs) CHEK2:c.525_531dup (p.Val178fs) CHEK2:c.987_993dup (p.Val332fs) CHEK2:c.1188_1194dup (p.Val399fs) CHEK2:c.1101_1107dup (p.Val370fs) CHEK2:c.1022delA CHEK2:c.1151del (p.Asn384fs) CHEK2:c.359del (p.Asn120fs) CHEK2:c.821del (p.Asn274fs) CHEK2:c.1022del (p.Asn341fs) CHEK2:c.1009-1101del CHEK2:c.683+2T>C CHEK2:c.482+5493T>C CHEK2:c.20+2T>C CHEK2:c.812+2T>C CHEK2:c.383delC CHEK2:c.512del (p.Pro171fs) CHEK2:c.-395del CHEK2:c.383del (p.Pro128fs) CHEK2:c.161_164delACTC CHEK2:c.161_164del (p.His54fs) CHEK2:c.-617_-614del CHEK2:c.1007delA CHEK2:c.1136del (p.Gln379fs) CHEK2:c.344del (p.Gln115fs) CHEK2:c.806del (p.Gln269fs) CHEK2:c.1007del (p.Gln336fs) CHEK2:c.1114del (p.Tyr372fs) CHEK2:c.322del (p.Tyr108fs) CHEK2:c.784del (p.Tyr262fs) CHEK2:c.985del (p.Tyr329fs) CHEK2:c.985delT CHEK2:c.908+1_908+8delinsTT CHEK2:c.707+1_707+8delinsTT CHEK2:c.245+1_245+8delinsTT CHEK2:c.1037+1_1037+8delinsTT CHEK2:c.1347delT CHEK2:c.1476del (p.Glu493fs) CHEK2:c.684del (p.Glu229fs) CHEK2:c.1146del (p.Glu383fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.1260del (p.Glu421fs) CHEK2:c.1335_1336delCAinsAC CHEK2:c.1464_1465delinsAC (p.Tyr488_Asn489delinsTer) CHEK2:c.672_673delinsAC (p.Tyr224_Asn225delinsTer) CHEK2:c.1134_1135delinsAC (p.Tyr378_Asn379delinsTer) CHEK2:c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) CHEK2:c.1248_1249delinsAC (p.Tyr416_Asn417delinsTer) CHEK2:c.1049delC CHEK2:c.1178del (p.Pro393fs) CHEK2:c.386del (p.Pro129fs) CHEK2:c.848del (p.Pro283fs) CHEK2:c.1049del (p.Pro350fs) CHEK2:c.1009-1074del CHEK2:c.1019_1034del CHEK2:c.1148_1163del (p.Glu383fs) CHEK2:c.356_371del (p.Glu119fs) CHEK2:c.818_833del (p.Glu273fs) CHEK2:c.1019_1034del (p.Glu340fs) CHEK2:c.1009-1104_1009-1089del CHEK2:c.990del CHEK2:c.1119del (p.Met374fs) CHEK2:c.327del (p.Met110fs) CHEK2:c.789del (p.Met264fs) CHEK2:c.990del (p.Met331fs) CHEK2:c.655G>T CHEK2:c.784G>T (p.Glu262Ter) CHEK2:c.-9G>T CHEK2:c.655G>T (p.Glu219Ter) CHEK2:c.482+5463G>T CHEK2:c.537C>A (p.Tyr179Ter) CHEK2:c.-370C>A CHEK2:c.408C>A (p.Tyr136Ter) CHEK2:c.408C>A CHEK2:c.269delC CHEK2:c.269del (p.Pro90fs) CHEK2:c.-509del CHEK2:c.181delA CHEK2:c.181del (p.Ser61fs) CHEK2:c.-597del CHEK2:c.78_85delCCAGTCCC CHEK2:c.78_85del (p.Gln27fs) CHEK2:c.-700_-693del CHEK2:c.-747C>T CHEK2:c.31C>T (p.Gln11Ter) CHEK2:c.31C>T CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C CHEK2:c.319+1G>T CHEK2:c.-459+1G>T CHEK2:c.592+1G>A CHEK2:c.445-53G>A CHEK2:c.-186+1G>A CHEK2:c.721+1G>A CHEK2:c.1461+2delT CHEK2:c.1374+2del CHEK2:c.1260+2del CHEK2:c.1461+2del CHEK2:c.798+2del CHEK2:c.1590+2del CHEK2:c.1260-24_1263delCTTTCTCTCTCTACCAATATTAAGCCTT CHEK2:c.1173-24_1176del CHEK2:c.1059-24_1062del CHEK2:c.1260-24_1263del CHEK2:c.597-24_600del CHEK2:c.1389-24_1392del CHEK2:c.1344delT CHEK2:c.1473del (p.Pro492fs) CHEK2:c.681del (p.Pro228fs) CHEK2:c.1143del (p.Pro382fs) CHEK2:c.1344del (p.Pro449fs) CHEK2:c.1257del (p.Pro420fs) CHEK2:c.1334dupA CHEK2:c.1463dup (p.Tyr488Ter) CHEK2:c.671dup (p.Tyr224Ter) CHEK2:c.1133dup (p.Tyr378Ter) CHEK2:c.1334dup (p.Tyr445Ter) CHEK2:c.1247dup (p.Tyr416Ter) CHEK2:c.696dupA CHEK2:c.825dup (p.Glu276fs) CHEK2:c.33dup (p.Glu12fs) CHEK2:c.495dup (p.Glu166fs) CHEK2:c.696dup (p.Glu233fs) CHEK2:c.673delA CHEK2:c.802del (p.Thr268fs) CHEK2:c.10del (p.Thr4fs) CHEK2:c.673del (p.Thr225fs) CHEK2:c.482+5481del CHEK2:c.360delC CHEK2:c.489del (p.Cys164fs) CHEK2:c.-418del CHEK2:c.360del (p.Cys121fs) CHEK2:c.1288+1G>C CHEK2:c.1174+1G>C CHEK2:c.1375+1G>C CHEK2:c.712+1G>C CHEK2:c.1504+1G>C CHEK2:c.908+2T>C CHEK2:c.707+2T>C CHEK2:c.245+2T>C CHEK2:c.1037+2T>C CHEK2:c.1118dup CHEK2:c.1247dup (p.Ile417fs) CHEK2:c.455dup (p.Ile153fs) CHEK2:c.917dup (p.Ile307fs) CHEK2:c.1118dup (p.Ile374fs) CHEK2:c.1031dup (p.Ile345fs) CHEK2:c.948del CHEK2:c.1077del (p.Asn359fs) CHEK2:c.285del (p.Asn95fs) CHEK2:c.747del (p.Asn249fs) CHEK2:c.948del (p.Asn316fs) CHEK2:c.581del (p.Gly194fs) CHEK2:c.-326del CHEK2:c.452del (p.Gly151fs) CHEK2:c.444+126del CHEK2:c.452del CHEK2:c.397del CHEK2:c.526del (p.Thr176fs) CHEK2:c.-381del CHEK2:c.397del (p.Thr133fs) CHEK2:c.305del CHEK2:c.305del (p.Gly102fs) CHEK2:c.-473del CHEK2:c.291G>A CHEK2:c.291G>A (p.Trp97Ter) CHEK2:c.-487G>A CHEK2:c.234_262del CHEK2:c.234_262del (p.Gln78fs) CHEK2:c.-544_-516del CHEK2:c.199del CHEK2:c.199del (p.Ser67fs) CHEK2:c.-579del CHEK2:c.183del (p.Ser62fs) CHEK2:c.-595del CHEK2:c.183del CHEK2:c.1260-1G>T CHEK2:c.1173-1G>T CHEK2:c.1059-1G>T CHEK2:c.597-1G>T CHEK2:c.1389-1G>T CHEK2:c.1172T>G (p.Leu391Ter) CHEK2:c.380T>G (p.Leu127Ter) CHEK2:c.842T>G (p.Leu281Ter) CHEK2:c.1043T>G (p.Leu348Ter) CHEK2:c.1009-1080T>G CHEK2:c.1043T>G CHEK2:c.1430del CHEK2:c.1559del (p.Thr520fs) CHEK2:c.767del (p.Thr256fs) CHEK2:c.1430del (p.Thr477fs) CHEK2:c.1343del (p.Thr448fs) CHEK2:c.1371_1372del CHEK2:c.1500_1501del (p.Lys501fs) CHEK2:c.708_709del (p.Lys237fs) CHEK2:c.1170_1171del (p.Lys391fs) CHEK2:c.1371_1372del (p.Lys458fs) CHEK2:c.1284_1285del (p.Lys429fs) CHEK2:c.906del CHEK2:c.1035del (p.Glu345fs) CHEK2:c.243del (p.Glu81fs) CHEK2:c.705del (p.Glu235fs) CHEK2:c.906del (p.Glu302fs) CHEK2:c.842dup CHEK2:c.971dup (p.Asn324fs) CHEK2:c.179dup (p.Asn60fs) CHEK2:c.641dup (p.Asn214fs) CHEK2:c.842dup (p.Asn281fs) CHEK2:c.806_807del CHEK2:c.935_936del (p.Asn312fs) CHEK2:c.143_144del (p.Asn48fs) CHEK2:c.605_606del (p.Asn202fs) CHEK2:c.806_807del (p.Asn269fs) CHEK2:c.543_549del CHEK2:c.672_678del (p.Pro225fs) CHEK2:c.-235_-229del CHEK2:c.543_549del (p.Pro182fs) CHEK2:c.445-103_445-97del CHEK2:c.467dup CHEK2:c.596dup (p.Tyr199Ter) CHEK2:c.-311dup CHEK2:c.467dup (p.Tyr156Ter) CHEK2:c.444+141dup CHEK2:c.1419dup (p.Arg474Ter) CHEK2:c.627dup (p.Arg210Ter) CHEK2:c.1089dup (p.Arg364Ter) CHEK2:c.1290dup (p.Arg431Ter) CHEK2:c.1203dup (p.Arg402Ter) CHEK2:c.1290dup CHEK2:c.776del CHEK2:c.905del (p.Gly302fs) CHEK2:c.113del (p.Gly38fs) CHEK2:c.575del (p.Gly192fs) CHEK2:c.776del (p.Gly259fs) CHEK2:c.321_324del CHEK2:c.450_453del (p.Lys150_Cys151insTer) CHEK2:c.-457_-454del CHEK2:c.321_324del (p.Glu107_Cys108insTer) CHEK2:c.1485G>A CHEK2:c.1356G>A CHEK2:c.1485G>A (p.Trp495Ter) CHEK2:c.693G>A (p.Trp231Ter) CHEK2:c.1155G>A (p.Trp385Ter) CHEK2:c.1356G>A (p.Trp452Ter) CHEK2:c.1269G>A (p.Trp423Ter) CHEK2:c.1193del CHEK2:c.1322del (p.Ser441fs) CHEK2:c.530del (p.Ser177fs) CHEK2:c.992del (p.Ser331fs) CHEK2:c.1193del (p.Ser398fs) CHEK2:c.1106del (p.Ser369fs) CHEK2:c.1074del (p.Asn359fs) CHEK2:c.282del (p.Asn95fs) CHEK2:c.744del (p.Asn249fs) CHEK2:c.945del (p.Asn316fs) CHEK2:c.945del CHEK2:c.636T>G CHEK2:c.765T>G (p.Tyr255Ter) CHEK2:c.-28T>G CHEK2:c.636T>G (p.Tyr212Ter) CHEK2:c.482+5444T>G CHEK2:c.938del CHEK2:c.1067del (p.Val356fs) CHEK2:c.275del (p.Val92fs) CHEK2:c.737del (p.Val246fs) CHEK2:c.938del (p.Val313fs) CHEK2:c.684-2A>T CHEK2:c.483-2A>T CHEK2:c.21-2A>T CHEK2:c.813-2A>T CHEK2:c.1288+2T>C CHEK2:c.1174+2T>C CHEK2:c.1375+2T>C CHEK2:c.712+2T>C CHEK2:c.1504+2T>C CHEK2:c.847-12_847-2del CHEK2:c.646-12_646-2del CHEK2:c.184-12_184-2del CHEK2:c.976-12_976-2del CHEK2:c.593-2A>G CHEK2:c.482+5399A>G CHEK2:c.-71-2A>G CHEK2:c.722-2A>G CHEK2:c.1561G>T (p.Glu521Ter) CHEK2:c.769G>T (p.Glu257Ter) CHEK2:c.1231G>T (p.Glu411Ter) CHEK2:c.1432G>T (p.Glu478Ter) CHEK2:c.1345G>T (p.Glu449Ter) CHEK2:c.1549del (p.Arg517fs) CHEK2:c.757del (p.Arg253fs) CHEK2:c.1219del (p.Arg407fs) CHEK2:c.1420del (p.Arg474fs) CHEK2:c.1333del (p.Arg445fs) CHEK2:c.1461del (p.Lys487fs) CHEK2:c.669del (p.Lys223fs) CHEK2:c.1131del (p.Lys377fs) CHEK2:c.1332del (p.Lys444fs) CHEK2:c.1245del (p.Lys415fs) CHEK2:c.1375dup (p.Ile459fs) CHEK2:c.583dup (p.Ile195fs) CHEK2:c.1045dup (p.Ile349fs) CHEK2:c.1246dup (p.Ile416fs) CHEK2:c.1159dup (p.Ile387fs) CHEK2:c.1097_1098del (p.Thr366fs) CHEK2:c.305_306del (p.Thr102fs) CHEK2:c.767_768del (p.Thr256fs) CHEK2:c.968_969del (p.Thr323fs) CHEK2:c.959T>A (p.Leu320Ter) CHEK2:c.167T>A (p.Leu56Ter) CHEK2:c.629T>A (p.Leu210Ter) CHEK2:c.830T>A (p.Leu277Ter) CHEK2:c.916G>T (p.Glu306Ter) CHEK2:c.124G>T (p.Glu42Ter) CHEK2:c.586G>T (p.Glu196Ter) CHEK2:c.787G>T (p.Glu263Ter) CHEK2:c.879del (p.Ile294fs) CHEK2:c.87del (p.Ile30fs) CHEK2:c.549del (p.Ile184fs) CHEK2:c.750del (p.Ile251fs) CHEK2:c.847del (p.Arg283fs) CHEK2:c.55del (p.Arg19fs) CHEK2:c.517del (p.Arg173fs) CHEK2:c.718del (p.Arg240fs) CHEK2:c.793_805del (p.Met265fs) CHEK2:c.1_13del (p.Met1fs) CHEK2:c.664_676del (p.Met222fs) CHEK2:c.482+5472_482+5484del CHEK2:c.792_793insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met265fs) CHEK2:c.-1_1insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met1fs) CHEK2:c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) CHEK2:c.482+5471_482+5472insAAGAGATGAATACATCGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAA CHEK2:c.787dup (p.Tyr263fs) CHEK2:c.-6dup CHEK2:c.658dup (p.Tyr220fs) CHEK2:c.482+5466dup CHEK2:c.677del (p.Pro225_Leu226insTer) CHEK2:c.-230del CHEK2:c.548del (p.Pro182_Leu183insTer) CHEK2:c.445-98del CHEK2:c.674dup (p.Leu226fs) CHEK2:c.-233dup CHEK2:c.545dup (p.Leu183fs) CHEK2:c.445-102dup CHEK2:c.600del (p.Ile200fs) CHEK2:c.-307del CHEK2:c.471del (p.Ile157fs) CHEK2:c.444+145del CHEK2:c.478del (p.Arg160fs) CHEK2:c.-429del CHEK2:c.349del (p.Arg117fs) CHEK2:c.82del (p.Ser28fs) CHEK2:c.-696del CHEK2:c.55del (p.Ser19fs) CHEK2:c.-723del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.895-2A>G CHEK2:c.1096-2A>G CHEK2:c.433-2A>G CHEK2:c.1225-2A>G CHEK2:c.903_908+26del CHEK2:c.702_707+26del CHEK2:c.240_245+26del CHEK2:c.1032_1037+26del CHEK2:c.624_625insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn209fs) CHEK2:c.-298_-283AGA[2]TCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC[1] CHEK2:c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) CHEK2:c.445-151_445-150insAGAAGATCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAA CHEK2:c.1252_1253del (p.Leu418fs) CHEK2:c.460_461del (p.Leu154fs) CHEK2:c.922_923del (p.Leu308fs) CHEK2:c.1123_1124del (p.Leu375fs) CHEK2:c.1036_1037del (p.Leu346fs) CHEK2:c.1143_1165dup (p.Arg389fs) CHEK2:c.351_373dup (p.Arg125fs) CHEK2:c.813_835dup (p.Arg279fs) CHEK2:c.1014_1036dup (p.Arg346fs) CHEK2:c.1009-1109_1009-1087dup CHEK2:c.633del (p.Phe212fs) CHEK2:c.-274del CHEK2:c.504del (p.Phe169fs) CHEK2:c.445-142del CHEK2:c.676_677del (p.Leu226fs) CHEK2:c.-231_-230del CHEK2:c.547_548del (p.Leu183fs) CHEK2:c.445-99_445-98del CHEK2:c.6_10delTCGGG CHEK2:c.6_10del (p.Arg3fs) CHEK2:c.-772_-768del CHEK2:c.445-8_446del CHEK2:c.444+111_444+120del CHEK2:c.-333-8_-332del CHEK2:c.574-8_575del CHEK2:c.1021del (p.Tyr341fs) CHEK2:c.229del (p.Tyr77fs) CHEK2:c.691del (p.Tyr231fs) CHEK2:c.892del (p.Tyr298fs) CHEK2:c.1338_1362dup (p.Ser455delinsValTer) CHEK2:c.546_570dup (p.Ser191delinsValTer) CHEK2:c.1008_1032dup (p.Ser345delinsValTer) CHEK2:c.1209_1233dup (p.Ser412delinsValTer) CHEK2:c.1122_1146dup (p.Ser383delinsValTer) CHEK2:c.320-2A>G CHEK2:c.-458-2A>G CHEK2:c.449-2A>G CHEK2:c.1159del (p.Ile387fs) CHEK2:c.367del (p.Ile123fs) CHEK2:c.829del (p.Ile277fs) CHEK2:c.1030del (p.Ile344fs) CHEK2:c.1009-1093del CHEK2:c.46_61del (p.Ser16fs) CHEK2:c.-732_-717del CHEK2:c.1443del (p.Gln482fs) CHEK2:c.651del (p.Gln218fs) CHEK2:c.1113del (p.Gln372fs) CHEK2:c.1314del (p.Gln439fs) CHEK2:c.1227del (p.Gln410fs) CHEK2:c.94del (p.Ser32fs) CHEK2:c.-684del CHEK2:c.408C>G CHEK2:c.537C>G (p.Tyr179Ter) CHEK2:c.-370C>G CHEK2:c.408C>G (p.Tyr136Ter) CHEK2:c.1464C>A (p.Tyr488Ter) CHEK2:c.672C>A (p.Tyr224Ter) CHEK2:c.1134C>A (p.Tyr378Ter) CHEK2:c.1335C>A (p.Tyr445Ter) CHEK2:c.1248C>A (p.Tyr416Ter) CHEK2:c.16delG CHEK2:c.16del (p.Asp6fs) CHEK2:c.-762del CHEK2:c.1190T>A (p.Leu397Ter) CHEK2:c.398T>A (p.Leu133Ter) CHEK2:c.860T>A (p.Leu287Ter) CHEK2:c.1061T>A (p.Leu354Ter) CHEK2:c.1009-1062T>A CHEK2:c.492T>A (p.Cys164Ter) CHEK2:c.-415T>A CHEK2:c.363T>A (p.Cys121Ter) CHEK2:c.1009-1026T>C CHEK2:c.894+2T>C CHEK2:c.1095+2T>C CHEK2:c.432+2T>C CHEK2:c.1224+2T>C CHEK2:c.205C>T CHEK2:c.205C>T (p.Gln69Ter) CHEK2:c.-573C>T CHEK2:c.1337delA CHEK2:c.1466del (p.Asn489fs) CHEK2:c.674del (p.Asn225fs) CHEK2:c.1136del (p.Asn379fs) CHEK2:c.1337del (p.Asn446fs) CHEK2:c.1250del (p.Asn417fs) CHEK2:c.894T>G CHEK2:c.1023T>G (p.Tyr341Ter) CHEK2:c.231T>G (p.Tyr77Ter) CHEK2:c.693T>G (p.Tyr231Ter) CHEK2:c.894T>G (p.Tyr298Ter) CHEK2:c.876delT CHEK2:c.1005del (p.Phe335fs) CHEK2:c.213del (p.Phe71fs) CHEK2:c.675del (p.Phe225fs) CHEK2:c.876del (p.Phe292fs) CHEK2:c.1459C>T CHEK2:c.1588C>T (p.Gln530Ter) CHEK2:c.796C>T (p.Gln266Ter) CHEK2:c.1258C>T (p.Gln420Ter) CHEK2:c.1459C>T (p.Gln487Ter) CHEK2:c.1372C>T (p.Gln458Ter) CHEK2:c.1188delT CHEK2:c.1317del (p.Val440fs) CHEK2:c.525del (p.Val176fs) CHEK2:c.987del (p.Val330fs) CHEK2:c.1188del (p.Val397fs) CHEK2:c.1101del (p.Val368fs) CHEK2:c.847-1G>A CHEK2:c.646-1G>A CHEK2:c.184-1G>A CHEK2:c.976-1G>A CHEK2:c.683+1G>A CHEK2:c.482+5492G>A CHEK2:c.20+1G>A CHEK2:c.812+1G>A CHEK2:c.902T>A CHEK2:c.1031T>A (p.Leu344Ter) CHEK2:c.239T>A (p.Leu80Ter) CHEK2:c.701T>A (p.Leu234Ter) CHEK2:c.902T>A (p.Leu301Ter) CHEK2:c.860delA CHEK2:c.989del (p.Lys330fs) CHEK2:c.197del (p.Lys66fs) CHEK2:c.659del (p.Lys220fs) CHEK2:c.860del (p.Lys287fs) CHEK2:c.823delG CHEK2:c.952del (p.Glu318fs) CHEK2:c.160del (p.Glu54fs) CHEK2:c.622del (p.Glu208fs) CHEK2:c.823del (p.Glu275fs) CHEK2:c.28C>T CHEK2:c.28C>T (p.Gln10Ter) CHEK2:c.-750C>T CHEK2:c.1164dupC CHEK2:c.1293dup (p.Thr432fs) CHEK2:c.501dup (p.Thr168fs) CHEK2:c.963dup (p.Thr322fs) CHEK2:c.1164dup (p.Thr389fs) CHEK2:c.1077dup (p.Thr360fs) CHEK2:c.1259+1G>T CHEK2:c.1172+1G>T CHEK2:c.1058+1G>T CHEK2:c.596+1G>T CHEK2:c.1388+1G>T CHEK2:c.846+1G>A CHEK2:c.645+1G>A CHEK2:c.183+1G>A CHEK2:c.975+1G>A CHEK2:c.232C>T CHEK2:c.232C>T (p.Gln78Ter) CHEK2:c.-546C>T CHEK2:c.1240G>T CHEK2:c.1369G>T (p.Gly457Ter) CHEK2:c.577G>T (p.Gly193Ter) CHEK2:c.1039G>T (p.Gly347Ter) CHEK2:c.1240G>T (p.Gly414Ter) CHEK2:c.1153G>T (p.Gly385Ter) CHEK2:c.152_155dup CHEK2:c.152_155dup (p.Ser53fs) CHEK2:c.-626_-623dup CHEK2:c.577_578delCT CHEK2:c.706_707del (p.Leu236fs) CHEK2:c.-201_-200del CHEK2:c.577_578del (p.Leu193fs) CHEK2:c.445-69_445-68del CHEK2:c.1451delC CHEK2:c.1580del (p.Pro527fs) CHEK2:c.788del (p.Pro263fs) CHEK2:c.1250del (p.Pro417fs) CHEK2:c.1451del (p.Pro484fs) CHEK2:c.1364del (p.Pro455fs) CHEK2:c.1008+2T>G CHEK2:c.807+2T>G CHEK2:c.345+2T>G CHEK2:c.1137+2T>G CHEK2:c.133delA CHEK2:c.133del (p.Thr45fs) CHEK2:c.-645del CHEK2:c.319+1G>A CHEK2:c.-459+1G>A CHEK2:c.433delC CHEK2:c.562del (p.Arg188fs) CHEK2:c.-345del CHEK2:c.433del (p.Arg145fs) CHEK2:c.893_897delATATT CHEK2:c.1022_1026del (p.Tyr341fs) CHEK2:c.230_234del (p.Tyr77fs) CHEK2:c.692_696del (p.Tyr231fs) CHEK2:c.893_897del (p.Tyr298fs) CHEK2:c.1564G>T (p.Glu522Ter) CHEK2:c.772G>T (p.Glu258Ter) CHEK2:c.1234G>T (p.Glu412Ter) CHEK2:c.1435G>T (p.Glu479Ter) CHEK2:c.1348G>T (p.Glu450Ter) CHEK2:c.1435G>T CHEK2:c.909-1G>A CHEK2:c.708-1G>A CHEK2:c.246-1G>A CHEK2:c.1038-1G>A CHEK2:c.1209_1233del CHEK2:c.1338_1362del (p.Tyr447fs) CHEK2:c.546_570del (p.Tyr183fs) CHEK2:c.1008_1032del (p.Tyr337fs) CHEK2:c.1209_1233del (p.Tyr404fs) CHEK2:c.1122_1146del (p.Tyr375fs) CHEK2:c.606dup CHEK2:c.735dup (p.Asp246Ter) CHEK2:c.-58dup CHEK2:c.606dup (p.Asp203Ter) CHEK2:c.482+5409dup CHEK2:c.735dupT CHEK2:c.100C>T CHEK2:c.100C>T (p.Gln34Ter) CHEK2:c.-678C>T CHEK2:c.1461+1G>T CHEK2:c.1374+1G>T CHEK2:c.1260+1G>T CHEK2:c.798+1G>T CHEK2:c.1590+1G>T CHEK2:c.706delC CHEK2:c.835del (p.Leu279fs) CHEK2:c.43del (p.Leu15fs) CHEK2:c.505del (p.Leu169fs) CHEK2:c.706del (p.Leu236fs) CHEK2:c.1009-1G>A CHEK2:c.1009-1115G>A CHEK2:c.808-1G>A CHEK2:c.346-1G>A CHEK2:c.1138-1G>A CHEK2:c.1108dup (p.Tyr370fs) CHEK2:c.316dup (p.Tyr106fs) CHEK2:c.778dup (p.Tyr260fs) CHEK2:c.979dup (p.Tyr327fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) CHEK2:c.79C>T CHEK2:c.79C>T (p.Gln27Ter) CHEK2:c.-699C>T CHEK2:c.118_133delAGCTCCTCTACCAGCA CHEK2:c.118_133del (p.Ser40fs) CHEK2:c.-660_-645del CHEK2:c.1465G>T CHEK2:c.1594G>T (p.Glu532Ter) CHEK2:c.802G>T (p.Glu268Ter) CHEK2:c.1264G>T (p.Glu422Ter) CHEK2:c.1465G>T (p.Glu489Ter) CHEK2:c.1378G>T (p.Glu460Ter) CHEK2:c.400_401del CHEK2:c.529_530del (p.Thr176_Asp177insTer) CHEK2:c.-378_-377del CHEK2:c.400_401del (p.Thr133_Asp134insTer) CHEK2:c.621delT CHEK2:c.750del (p.Asp250fs) CHEK2:c.-43del CHEK2:c.621del (p.Asp207fs) CHEK2:c.482+5429del CHEK2:c.792_792+1delAG CHEK2:c.792_792+1del CHEK2:c.591_591+1del CHEK2:c.129_129+1del CHEK2:c.921_921+1del CHEK2:c.1095+2T>G CHEK2:c.1009-1026T>G CHEK2:c.894+2T>G CHEK2:c.432+2T>G CHEK2:c.1224+2T>G CHEK2:c.988C>T CHEK2:c.1117C>T (p.Gln373Ter) CHEK2:c.325C>T (p.Gln109Ter) CHEK2:c.787C>T (p.Gln263Ter) CHEK2:c.988C>T (p.Gln330Ter) CHEK2:c.445-2A>G CHEK2:c.444+117A>G CHEK2:c.-333-2A>G CHEK2:c.574-2A>G CHEK2:c.575C>A CHEK2:c.704C>A (p.Ser235Ter) CHEK2:c.-203C>A CHEK2:c.575C>A (p.Ser192Ter) CHEK2:c.445-71C>A CHEK2:c.252del (p.Glu84fs) CHEK2:c.-526del CHEK2:c.252del CHEK2:c.605_606delTT CHEK2:c.734_735del (p.Phe244_Phe245insTer) CHEK2:c.-59_-58del CHEK2:c.605_606del (p.Phe201_Phe202insTer) CHEK2:c.482+5413_482+5414del CHEK2:c.578del (p.Val193fs) CHEK2:c.-329del CHEK2:c.449del (p.Val150fs) CHEK2:c.444+123del CHEK2:c.449del CHEK2:c.1375+1G>A CHEK2:c.1288+1G>A CHEK2:c.1174+1G>A CHEK2:c.712+1G>A CHEK2:c.1504+1G>A CHEK2:c.1230C>A CHEK2:c.1359C>A (p.Cys453Ter) CHEK2:c.567C>A (p.Cys189Ter) CHEK2:c.1029C>A (p.Cys343Ter) CHEK2:c.1230C>A (p.Cys410Ter) CHEK2:c.1143C>A (p.Cys381Ter) CHEK2:c.995del CHEK2:c.1124del (p.Leu375fs) CHEK2:c.332del (p.Leu111fs) CHEK2:c.794del (p.Leu265fs) CHEK2:c.995del (p.Leu332fs) CHEK2:c.989del CHEK2:c.1118del (p.Gln373fs) CHEK2:c.326del (p.Gln109fs) CHEK2:c.788del (p.Gln263fs) CHEK2:c.989del (p.Gln330fs) CHEK2:c.763A>T CHEK2:c.892A>T (p.Lys298Ter) CHEK2:c.100A>T (p.Lys34Ter) CHEK2:c.562A>T (p.Lys188Ter) CHEK2:c.763A>T (p.Lys255Ter) CHEK2:c.788_791del (p.Tyr263fs) CHEK2:c.-5_-2del CHEK2:c.659_662del (p.Tyr220fs) CHEK2:c.482+5467_482+5470del CHEK2:c.659_662del CHEK2:c.194_195del CHEK2:c.194_195del (p.Thr65fs) CHEK2:c.-584_-583del CHEK2:c.159_160del CHEK2:c.159_160del (p.His54fs) CHEK2:c.-621TC[1] CHEK2:c.1400del CHEK2:c.1529del (p.Leu510fs) CHEK2:c.737del (p.Leu246fs) CHEK2:c.1199del (p.Leu400fs) CHEK2:c.1400del (p.Leu467fs) CHEK2:c.1313del (p.Leu438fs) CHEK2:c.1489_1490del (p.Glu497fs) CHEK2:c.697_698del (p.Glu233fs) CHEK2:c.1159_1160del (p.Glu387fs) CHEK2:c.1360_1361del (p.Glu454fs) CHEK2:c.1273_1274del (p.Glu425fs) CHEK2:c.1360_1361del CHEK2:c.1067C>G CHEK2:c.1196C>G (p.Ser399Ter) CHEK2:c.404C>G (p.Ser135Ter) CHEK2:c.866C>G (p.Ser289Ter) CHEK2:c.1067C>G (p.Ser356Ter) CHEK2:c.1009-1056C>G CHEK2:c.186del CHEK2:c.186del (p.Ser62_Leu63insTer) CHEK2:c.-592del CHEK2:c.444_444+1del CHEK2:c.-334_-334+1del CHEK2:c.573_573+1del CHEK2:c.792+2T>G CHEK2:c.591+2T>G CHEK2:c.129+2T>G CHEK2:c.921+2T>G CHEK2:c.1348G>T CHEK2:c.1477G>T (p.Glu493Ter) CHEK2:c.685G>T (p.Glu229Ter) CHEK2:c.1147G>T (p.Glu383Ter) CHEK2:c.1261G>T (p.Glu421Ter) CHEK2:c.1210_1219del CHEK2:c.1339_1348del (p.Tyr447fs) CHEK2:c.547_556del (p.Tyr183fs) CHEK2:c.1009_1018del (p.Tyr337fs) CHEK2:c.1210_1219del (p.Tyr404fs) CHEK2:c.1123_1132del (p.Tyr375fs) CHEK2:c.870_871insCTAC CHEK2:c.999_1000insCTAC (p.Phe334fs) CHEK2:c.207_208insCTAC (p.Phe70fs) CHEK2:c.669_670insCTAC (p.Phe224fs) CHEK2:c.870_871insCTAC (p.Phe291fs) CHEK2:c.862_865del (p.Lys287_Lys288insTer) CHEK2:c.70_73del (p.Lys23_Lys24insTer) CHEK2:c.532_535del (p.Lys177_Lys178insTer) CHEK2:c.733_736del (p.Lys244_Lys245insTer) CHEK2:c.733_736del CHEK2:c.267_268insT CHEK2:c.267_268insT (p.Pro90fs) CHEK2:c.-511_-510insT CHEK2:c.98C>A CHEK2:c.98C>A (p.Ser33Ter) CHEK2:c.-680C>A CHEK2:c.733A>T CHEK2:c.862A>T (p.Lys288Ter) CHEK2:c.70A>T (p.Lys24Ter) CHEK2:c.532A>T (p.Lys178Ter) CHEK2:c.733A>T (p.Lys245Ter) CHEK2:c.209_216del (p.Glu70fs) CHEK2:c.-569_-562del CHEK2:c.209_216del CHEK2:c.684-5_684-2delinsC CHEK2:c.483-5_483-2delinsC CHEK2:c.21-5_21-2delinsC CHEK2:c.813-5_813-2delinsC CHEK2:c.1210_1211insTT CHEK2:c.1339_1340insTT (p.Tyr447fs) CHEK2:c.547_548insTT (p.Tyr183fs) CHEK2:c.1009_1010insTT (p.Tyr337fs) CHEK2:c.1210_1211insTT (p.Tyr404fs) CHEK2:c.1123_1124insTT (p.Tyr375fs) CHEK2:c.726_727del CHEK2:c.855_856del (p.Thr285_Cys286insTer) CHEK2:c.63_64del (p.Thr21_Cys22insTer) CHEK2:c.525_526del (p.Thr175_Cys176insTer) CHEK2:c.726_727del (p.Thr242_Cys243insTer) CHEK2:c.666del (p.Lys222fs) CHEK2:c.-241del CHEK2:c.537del (p.Lys179fs) CHEK2:c.445-109del CHEK2:c.537del CHEK2:c.597C>G CHEK2:c.468C>G CHEK2:c.597C>G (p.Tyr199Ter) CHEK2:c.-310C>G CHEK2:c.444+142C>G CHEK2:c.803_804del CHEK2:c.932_933del (p.Leu311fs) CHEK2:c.140_141del (p.Leu47fs) CHEK2:c.602_603del (p.Leu201fs) CHEK2:c.803_804del (p.Leu268fs) CHEK2:c.792+2T>A CHEK2:c.591+2T>A CHEK2:c.129+2T>A CHEK2:c.921+2T>A CHEK2:c.1050del CHEK2:c.1179del (p.Glu394fs) CHEK2:c.387del (p.Glu130fs) CHEK2:c.849del (p.Glu284fs) CHEK2:c.1050del (p.Glu351fs) CHEK2:c.1009-1073del CHEK2:c.1092del (p.Ala365fs) CHEK2:c.300del (p.Ala101fs) CHEK2:c.762del (p.Ala255fs) CHEK2:c.963del (p.Ala322fs) CHEK2:c.963del CHEK2:c.391A>T CHEK2:c.520A>T (p.Lys174Ter) CHEK2:c.-387A>T CHEK2:c.391A>T (p.Lys131Ter) CHEK2:c.64del CHEK2:c.64del (p.His22fs) CHEK2:c.-714del CHEK2:c.684-1del CHEK2:c.483-1del CHEK2:c.21-1del CHEK2:c.813-1del CHEK2:c.1584G>A (p.Trp528Ter) CHEK2:c.792G>A (p.Trp264Ter) CHEK2:c.1254G>A (p.Trp418Ter) CHEK2:c.1455G>A (p.Trp485Ter) CHEK2:c.1368G>A (p.Trp456Ter) CHEK2:c.1400T>A CHEK2:c.1529T>A (p.Leu510Ter) CHEK2:c.737T>A (p.Leu246Ter) CHEK2:c.1199T>A (p.Leu400Ter) CHEK2:c.1400T>A (p.Leu467Ter) CHEK2:c.1313T>A (p.Leu438Ter) CHEK2:c.1496C>G (p.Ser499Ter) CHEK2:c.704C>G (p.Ser235Ter) CHEK2:c.1166C>G (p.Ser389Ter) CHEK2:c.1367C>G (p.Ser456Ter) CHEK2:c.1280C>G (p.Ser427Ter) CHEK2:c.1491del (p.Val498fs) CHEK2:c.699del (p.Val234fs) CHEK2:c.1161del (p.Val388fs) CHEK2:c.1362del (p.Val455fs) CHEK2:c.1275del (p.Val426fs) CHEK2:c.1393dup (p.Ser465fs) CHEK2:c.601dup (p.Ser201fs) CHEK2:c.1063dup (p.Ser355fs) CHEK2:c.1264dup (p.Ser422fs) CHEK2:c.1177dup (p.Ser393fs) CHEK2:c.1377del (p.Leu460fs) CHEK2:c.585del (p.Leu196fs) CHEK2:c.1047del (p.Leu350fs) CHEK2:c.1248del (p.Leu417fs) CHEK2:c.1161del (p.Leu388fs) CHEK2:c.1196_1206del (p.Leu398_Ser399insTer) CHEK2:c.404_414del (p.Leu134_Ser135insTer) CHEK2:c.866_876del (p.Leu288_Ser289insTer) CHEK2:c.1067_1077del (p.Leu355_Ser356insTer) CHEK2:c.1009-1056_1009-1046del CHEK2:c.1048G>T (p.Gly350Ter) CHEK2:c.256G>T (p.Gly86Ter) CHEK2:c.718G>T (p.Gly240Ter) CHEK2:c.919G>T (p.Gly307Ter) CHEK2:c.897dup (p.Ala300fs) CHEK2:c.105dup (p.Ala36fs) CHEK2:c.567dup (p.Ala190fs) CHEK2:c.768dup (p.Ala257fs) CHEK2:c.853del (p.Thr285fs) CHEK2:c.61del (p.Thr21fs) CHEK2:c.523del (p.Thr175fs) CHEK2:c.724del (p.Thr242fs) CHEK2:c.797_798insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser266_Lys267insTer) CHEK2:c.5_6insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser2_Lys3insTer) CHEK2:c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) CHEK2:c.482+5476_482+5477insTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTCT CHEK2:c.793del (p.Met265fs) CHEK2:c.1del (p.Met1fs) CHEK2:c.664del (p.Met222fs) CHEK2:c.482+5472del CHEK2:c.631del (p.Thr211fs) CHEK2:c.-276del CHEK2:c.502del (p.Thr168fs) CHEK2:c.445-144del CHEK2:c.598del (p.Ile200fs) CHEK2:c.-309del CHEK2:c.469del (p.Ile157fs) CHEK2:c.444+143del CHEK2:c.529_532del (p.Asp177fs) CHEK2:c.-378_-375del CHEK2:c.400_403del (p.Asp134fs) CHEK2:c.488del (p.Ser163fs) CHEK2:c.-419del CHEK2:c.359del (p.Ser120fs) CHEK2:c.33del (p.Gln11fs) CHEK2:c.-745del CHEK2:c.684-2A>G CHEK2:c.483-2A>G CHEK2:c.21-2A>G CHEK2:c.813-2A>G CHEK2:c.1284T>A (p.Cys428Ter) CHEK2:c.954T>A (p.Cys318Ter) CHEK2:c.1155T>A (p.Cys385Ter) CHEK2:c.1068T>A (p.Cys356Ter) CHEK2:c.1048_1049del (p.Gly350fs) CHEK2:c.256_257del (p.Gly86fs) CHEK2:c.718_719del (p.Gly240fs) CHEK2:c.919_920del (p.Gly307fs) CHEK2:c.788_789delAG CHEK2:c.917_918del (p.Glu306fs) CHEK2:c.125_126del (p.Glu42fs) CHEK2:c.587_588del (p.Glu196fs) CHEK2:c.788_789del (p.Glu263fs) CHEK2:c.233_234del (p.Gln78fs) CHEK2:c.-545_-544del CHEK2:c.222del (p.Pro75fs) CHEK2:c.-556del CHEK2:c.106C>T CHEK2:c.106C>T (p.Gln36Ter) CHEK2:c.-672C>T CHEK2:c.41del (p.Gly14fs) CHEK2:c.-737del CHEK2:c.1330_1334del (p.Thr444fs) CHEK2:c.538_542del (p.Thr180fs) CHEK2:c.1000_1004del (p.Thr334fs) CHEK2:c.1201_1205del (p.Thr401fs) CHEK2:c.1114_1118del (p.Thr372fs) CHEK2:c.1470del (p.Phe490fs) CHEK2:c.678del (p.Phe226fs) CHEK2:c.1140del (p.Phe380fs) CHEK2:c.1341del (p.Phe447fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1306delC CHEK2:c.1435del (p.Ser478_Leu479insTer) CHEK2:c.643del (p.Ser214_Leu215insTer) CHEK2:c.1105del (p.Ser368_Leu369insTer) CHEK2:c.1306del (p.Ser435_Leu436insTer) CHEK2:c.1219del (p.Ser406_Leu407insTer) CHEK2:c.1375del (p.Ile459fs) CHEK2:c.583del (p.Ile195fs) CHEK2:c.1045del (p.Ile349fs) CHEK2:c.1246del (p.Ile416fs) CHEK2:c.1227_1237dup (p.Gly413fs) CHEK2:c.435_445dup (p.Gly149fs) CHEK2:c.897_907dup (p.Gly303fs) CHEK2:c.1098_1108dup (p.Gly370fs) CHEK2:c.1011_1021dup (p.Gly341fs) CHEK2:c.891_908+3del CHEK2:c.690_707+3del CHEK2:c.228_245+3del CHEK2:c.1020_1037+3del CHEK2:c.188del (p.Ser62_Leu63insTer) CHEK2:c.-590del CHEK2:c.903_904del (p.Ile301fs) CHEK2:c.111_112del (p.Ile37fs) CHEK2:c.573_574del (p.Ile191fs) CHEK2:c.774_775del (p.Ile258fs) CHEK2:c.1127T>A (p.Leu376Ter) CHEK2:c.335T>A (p.Leu112Ter) CHEK2:c.797T>A (p.Leu266Ter) CHEK2:c.998T>A (p.Leu333Ter) CHEK2:c.32_35del (p.Gln11fs) CHEK2:c.-746_-743del CHEK2:c.1048_1069del (p.Gly350fs) CHEK2:c.256_277del (p.Gly86fs) CHEK2:c.718_739del (p.Gly240fs) CHEK2:c.919_940del (p.Gly307fs) CHEK2:c.1175dup (p.Pro393fs) CHEK2:c.383dup (p.Pro129fs) CHEK2:c.845dup (p.Pro283fs) CHEK2:c.1046dup (p.Pro350fs) CHEK2:c.1009-1077dup CHEK2:c.1299del (p.Leu434fs) CHEK2:c.507del (p.Leu170fs) CHEK2:c.969del (p.Leu324fs) CHEK2:c.1170del (p.Leu391fs) CHEK2:c.1083del (p.Leu362fs) CHEK2:c.490del (p.Cys164fs) CHEK2:c.-417del CHEK2:c.361del (p.Cys121fs) CHEK2:c.872dup (p.Ile293fs) CHEK2:c.80dup (p.Ile29fs) CHEK2:c.542dup (p.Ile183fs) CHEK2:c.743dup (p.Ile250fs) CHEK2:c.889del (p.Arg297fs) CHEK2:c.97del (p.Arg33fs) CHEK2:c.559del (p.Arg187fs) CHEK2:c.760del (p.Arg254fs) CHEK2:c.866_911dup (p.Arg305fs) CHEK2:c.74_119dup (p.Arg41fs) CHEK2:c.536_581dup (p.Arg195fs) CHEK2:c.737_782dup (p.Arg262fs) CHEK2:c.1125_1135del (p.Leu376fs) CHEK2:c.333_343del (p.Leu112fs) CHEK2:c.795_805del (p.Leu266fs) CHEK2:c.996_1006del (p.Leu333fs) CHEK2:c.1493dup (p.Ser499fs) CHEK2:c.701dup (p.Ser235fs) CHEK2:c.1163dup (p.Ser389fs) CHEK2:c.1364dup (p.Ser456fs) CHEK2:c.1277dup (p.Ser427fs) CHEK2:c.557delA CHEK2:c.686del (p.Asn229fs) CHEK2:c.-221del CHEK2:c.557del (p.Asn186fs) CHEK2:c.445-89del CHEK2:c.1508del (p.Leu503fs) CHEK2:c.716del (p.Leu239fs) CHEK2:c.1178del (p.Leu393fs) CHEK2:c.1379del (p.Leu460fs) CHEK2:c.1292del (p.Leu431fs) CHEK2:c.1472_1473del (p.Ile491fs) CHEK2:c.680_681del (p.Ile227fs) CHEK2:c.1142_1143del (p.Ile381fs) CHEK2:c.1343_1344del (p.Ile448fs) CHEK2:c.1256_1257del (p.Ile419fs) CHEK2:c.589_617dup (p.His206delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.-318_-290dup CHEK2:c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.444+134_445-158dup CHEK2:c.577_590del (p.Val193fs) CHEK2:c.-330_-317del CHEK2:c.448_461del (p.Val150fs) CHEK2:c.444+122_444+135del CHEK2:c.471G>A (p.Trp157Ter) CHEK2:c.-436G>A CHEK2:c.342G>A (p.Trp114Ter) CHEK2:c.776dupG CHEK2:c.905dup (p.Ser303fs) CHEK2:c.113dup (p.Ser39fs) CHEK2:c.575dup (p.Ser193fs) CHEK2:c.776dup (p.Ser260fs) CHEK2:c.773del (p.Ala258fs) CHEK2:c.-20del CHEK2:c.644del (p.Ala215fs) CHEK2:c.482+5452del CHEK2:c.1009-1026T>A CHEK2:c.894+2T>A CHEK2:c.1095+2T>A CHEK2:c.432+2T>A CHEK2:c.1224+2T>A CHEK2:c.1222_1223dup (p.Ile409fs) CHEK2:c.430_431dup (p.Ile145fs) CHEK2:c.892_893dup (p.Ile299fs) CHEK2:c.1093_1094dup (p.Ile366fs) CHEK2:c.1009-1030_1009-1029dup CHEK2:c.908del (p.Gly302_Ser303insTer) CHEK2:c.116del (p.Gly38_Ser39insTer) CHEK2:c.578del (p.Gly192_Ser193insTer) CHEK2:c.779del (p.Gly259_Ser260insTer) CHEK2:c.1245del (p.Lys416fs) CHEK2:c.453del (p.Lys152fs) CHEK2:c.915del (p.Lys306fs) CHEK2:c.1116del (p.Lys373fs) CHEK2:c.1029del (p.Lys344fs) CHEK2:c.1581del (p.Trp528fs) CHEK2:c.789del (p.Trp264fs) CHEK2:c.1251del (p.Trp418fs) CHEK2:c.1452del (p.Trp485fs) CHEK2:c.1365del (p.Trp456fs) CHEK2:c.683+2T>A CHEK2:c.482+5493T>A CHEK2:c.20+2T>A CHEK2:c.812+2T>A CHEK2:c.79del (p.Gln27fs) CHEK2:c.-699del CHEK2:c.1531delG CHEK2:c.1660del (p.Val554fs) CHEK2:c.868del (p.Val290fs) CHEK2:c.1330del (p.Val444fs) CHEK2:c.1531del (p.Val511fs) CHEK2:c.1444del (p.Val482fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.607del (p.Tyr202_Ile203insTer) CHEK2:c.-300del CHEK2:c.478del (p.Tyr159_Ile160insTer) CHEK2:c.444+152del CHEK2:c.478delA CHEK2:c.56C>G (p.Ser19Ter) CHEK2:c.-722C>G CHEK2:c.56C>G CHEK2:c.269dup CHEK2:c.269dup (p.Ala91fs) CHEK2:c.-509dup CHEK2:c.597delT CHEK2:c.726del (p.Phe242fs) CHEK2:c.-67del CHEK2:c.597del (p.Phe199fs) CHEK2:c.482+5405del | premature stop missense mutation | A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. Hereditary cancer in clinical practice:2014 | ||||
CHEK2 gene | Malignant neoplasm of prostate | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 () 1100delC Mutation and Risk of Prostate Cancer. Prostate cancer:2014 | ||||||
CHEK2 gene | Malignant neoplasm of lung Breast Carcinoma | 3 | 108 | homozygous | c.1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer. European journal of human genetics : EJHG:2014 | |||
CHEK2 gene | Papillary thyroid carcinoma Thyroid carcinoma Breast Carcinoma multi-organ cancer | 468 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | premature stop missense mutation | CHEK2 mutations and the risk of papillary thyroid cancer. International journal of cancer:2015 | ||||
CHEK2 gene PALB2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma premenopausal hereditary breast cancer | 108 | c.1100delC | BRCA2:c.5213_5216del (p.Thr1738fs) BRCA2:c.582G>A (p.Trp194Ter) BRCA2:c.4798_4800del BRCA2:c.4795AAT[1] (p.Asn1600del) BRCA2:c.5771_5774del (p.Ile1924fs) BRCA2:c.581G>A (p.Trp194Ter) BRCA2:c.7712A>G (p.Glu2571Gly) BRCA2:c.9875C>T (p.Pro3292Leu) BRCA2:c.7934del (p.Arg2645fs) BRCA1:c.71G>A (p.Arg24Lys) BRCA1:c.212G>A (p.Arg71Lys) BRCA1:c.114dup (p.Glu41Glyfs) BRCA1:c.324dup (p.Glu111Glyfs) BRCA1:c.183dup (p.Glu64Glyfs) BRCA1:c.821G>A (p.Trp274Ter) BRCA1:c.818G>A (p.Trp273Ter) BRCA1:c.1155G>A (p.Trp385Ter) BRCA1:c.1014G>A (p.Trp338Ter) BRCA1:c.787+368G>A (n.787+368G>A) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | multiplex ligation-dependent probe amplification | BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer. BMC cancer:2015 | ||||
CHEK2 gene | Malignant neoplasm of prostate Breast Carcinoma | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | missense mutation | CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. International journal of clinical and experimental medicine:2015 | |||||
BRCA1 gene CHEK2 gene | Breast Carcinoma | 2449 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases. Cancer genetics:2015 | |||||
BRCA2 gene CHEK2 gene | Malignant neoplasm of ovary Breast Carcinoma | 134 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population. SpringerPlus:2015 | |||||
NBN gene CHEK2 gene | Breast Carcinoma | 300 | heterozygous | c.657_662del p.Arg215Trp p.Ile157Thr c.1100delC c.IVS2+1G>A | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) | polymerase chain reaction | Clinical relevance of CHEK2 and NBN mutations in the macedonian population. Balkan journal of medical genetics : BJMG:2015 | |||
CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Colorectal Carcinoma Breast Carcinoma hereditary breast cancer syndromes | 902 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genetics and molecular biology:2016 | |||||
CDH1 gene CHEK2 gene | Breast Carcinoma breast | 183 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium. Breast cancer research : BCR:2016 | ||||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||||
CLCN5 gene TJP2 gene BRCA1 gene VHL gene TP53 gene NRAS gene KRAS gene BRAF gene TSC2 gene KIT gene CTNNB1 gene | Liver carcinoma Solid Neoplasm | 121 | VHL:c.499C>T (p.Arg167Trp) VHL:c.376C>T VHL:c.*53C>T VHL:c.376C>T (p.Arg126Trp) SBDS:c.258+2T>C MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MYBPC3:c.1624G>C (p.Glu542Gln) TP53:c.347G>A (p.Arg116Gln) TP53:c.626G>A (p.Arg209Gln) TP53:c.266G>A (p.Arg89Gln) TP53:c.743G>A (p.Arg248Gln) TP53:c.743G>A PTPN11:c.923A>G PTPN11:c.923A>G (p.Asn308Ser) PTPN11:c.920A>G (p.Asn307Ser) PIK3CA:c.3140A>G PIK3CA:c.3140A>G (p.His1047Arg) KIT:c.2447A>T (p.Asp816Val) KIT:c.2435A>T (p.Asp812Val) KIT:c.2450A>T (p.Asp817Val) KIT:c.2444A>T (p.Asp815Val) KIT:c.2432A>T (p.Asp811Val) KIT:c.2438A>T (p.Asp813Val) KIT:c.2446G>C (p.Asp816His) KIT:c.2434G>C (p.Asp812His) KIT:c.2449G>C (p.Asp817His) KIT:c.2443G>C (p.Asp815His) KIT:c.2431G>C (p.Asp811His) KIT:c.2437G>C (p.Asp813His) CTNNB1:c.133_135del CTNNB1:c.133_135del (p.Ser45del) CTNNB1:c.112_114del (p.Ser38del) CTNNB1:c.121A>G CTNNB1:c.121A>G (p.Thr41Ala) CTNNB1:c.100A>G (p.Thr34Ala) CTNNB1:c.94G>T (p.Asp32Tyr) CTNNB1:c.73G>T (p.Asp25Tyr) CTNNB1:c.98C>T (p.Ser33Phe) CTNNB1:c.77C>T (p.Ser26Phe) CTNNB1:c.101G>A (p.Gly34Glu) CTNNB1:c.80G>A (p.Gly27Glu) CTNNB1:c.134C>T (p.Ser45Phe) CTNNB1:c.113C>T (p.Ser38Phe) BRCA1:c.1119_1123delTAAAT (p.Leu375Alafs) BRCA1:c.1356_1360delTAAAT (p.Leu454Alafs) BRCA1:c.996_1000delTAAAT (p.Leu334Alafs) BRCA1:c.612_616delTAAAT (p.Leu206Alafs) BRCA1:c.1500_1504delTAAAT (p.Leu502Alafs) BRCA1:c.1504_1508del (p.Leu502fs) BRCA1:c.1363_1367del (p.Leu455fs) BRCA1:c.787+717_787+721del BRCA1:c.315_316delTG (p.Val106Asnfs) BRCA1:c.312_313delTG (p.Val105Asnfs) BRCA1:c.552_553delTG (p.Val185Asnfs) BRCA1:c.192_193delTG (p.Val65Asnfs) BRCA1:c.-193_-192delTG BRCA1:c.696_697delTG (p.Val233Asnfs) PTPN11:c.1520G>T (p.Gly507Val) PTPN11:c.1505G>T (p.Gly502Val) PTPN11:c.1508G>T (p.Gly503Val) BRCA2:c.1278del (p.Asp427fs) SCN5A:c.3908C>T (p.Thr1303Met) SCN5A:c.3911C>T (p.Thr1304Met) SCN5A:c.3749C>T (p.Thr1250Met) MED12:c.130G>A MED12:c.130G>A (p.Gly44Ser) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) MED12:c.131G>A MED12:c.131G>A (p.Gly44Asp) FANCL:c.1141_1144dup (p.Thr382fs) FANCL:c.1096_1099dup (p.Thr367fs) FANCL:c.*102_*105dup FANCL:c.*487_*490dup FGFR1:c.1632C>A (p.Asn544Lys) FGFR1:c.1371C>A (p.Asn457Lys) FGFR1:c.1731C>A (p.Asn577Lys) FGFR1:c.1359C>A (p.Asn453Lys) FGFR1:c.1626C>A (p.Asn542Lys) FGFR1:c.1365C>A (p.Asn455Lys) FGFR1:c.1638C>A (p.Asn546Lys) DICER1:c.2062C>T (p.Arg688Ter) BCOR:c.3883_3884delAG BCOR:c.3781_3782del (p.Leu1262fs) BCOR:c.3727_3728del (p.Leu1244fs) BCOR:c.3883_3884del (p.Leu1296fs) CTNNB1:c.98C>G (p.Ser33Cys) CTNNB1:c.77C>G (p.Ser26Cys) PPP1R1A:c.372_373delinsCA PPP1R1A:c.372_373delinsCA (p.Glu124_Ser125delinsAspThr) DIS3L2:c.2381_2382del (p.Arg794fs) DIS3L2:c.1582-8623_1582-8622del CTNNB1:c.84_95del (p.Gln28_Asp32delinsHis) CTNNB1:c.63_74del (p.Gln21_Asp25delinsHis) KIT:c.2851_2852dup (p.Val951_Asp952insTer) KIT:c.2839_2840dup (p.Val947_Asp948insTer) KIT:c.2854_2855dup (p.Val952_Asp953insTer) KIT:c.2848_2849dup (p.Val950_Asp951insTer) KIT:c.2836_2837dup (p.Val946_Asp947insTer) KIT:c.2842_2843dup (p.Val948_Asp949insTer) BRCA1:c.-240_-238delAGT BRCA1:c.-121_-119delAGT BRCA1:c.-352_-350delAGT BRCA1:c.68_70delAGT (p.Glu23_Cys24delinsGly) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) DDX3X:c.1588G>T (p.Gly530Cys) DDX3X:c.1540G>T (p.Gly514Cys) DDX3X:c.1030G>T (p.Gly344Cys) FGFR3:c.991T>C (p.Phe331Leu) FGFR3:c.1082-578T>C FGFR3:c.931-1072T>C FZD6:c.346C>T FZD6:c.346C>T (p.Arg116Ter) FZD6:c.250C>T (p.Arg84Ter) FZD6:c.33-6296C>T MAP2K7:c.800T>C (p.Leu267Pro) MAP2K7:c.752T>C (p.Leu251Pro) NF2:c.575A>G (p.Tyr192Cys) NF2:c.449A>G (p.Tyr150Cys) NF2:c.452A>G (p.Tyr151Cys) NF2:c.326A>G (p.Tyr109Cys) NF2:c.447+13367A>G PHF6:c.119C>A (p.Ala40Glu) KRAS:c.194G>T (p.Ser65Ile) KRAS:c.194G>T BUB1B:c.1648C>T (p.Arg550Ter) ALDH4A1:c.866+1G>A ALDH4A1:c.686+1G>A MSH2:c.1697del (p.Asn566fs) MSH2:c.1697delA MSH2:c.1499del (p.Asn500fs) WRAP53:c.1564dup (p.Ala522fs) DSG2:c.523+1G>C FANCC:c.1663C>T FANCC:c.1663C>T (p.Arg555Ter) RNF216:c.2468G>A (p.Arg823His) RNF216:c.2297G>A (p.Arg766His) RNF216:c.2297G>A TP53:c.74T>C (p.Val25Ala) TP53:c.353T>C (p.Val118Ala) TP53:c.-8T>C MSH2:c.1692_1693del (p.Lys565_Asn566insTer) MSH2:c.1494_1495del (p.Lys499_Asn500insTer) TJP2:c.744_745del (p.Ala250fs) TJP2:c.825_826del (p.Ala277fs) TJP2:c.906_907del (p.Ala304fs) TJP2:c.813_814del (p.Ala273fs) BRCA1:c.193_195delGTA (p.Val65del) BRCA1:c.487_489delGTA (p.Val163del) BRCA1:c.697_699delGTA (p.Val233del) BRCA1:c.697_699del (p.Val233del) BRCA1:c.556_558del (p.Val186del) MN1:c.912GCA[5] (p.Gln309del) ARID1B:c.3465+1G>A ARID1B:c.3594+1G>A ARID1B:c.3714+1G>A ARID1B:c.3555+1G>A ARID1B:c.1215+1G>A DDX3X:c.1033G>C (p.Val345Leu) DDX3X:c.985G>C (p.Val329Leu) DDX3X:c.475G>C (p.Val159Leu) H3-3A:c.103G>A (p.Gly35Arg) JAK2:c.2798C>A (p.Pro933Gln) JAK2:c.1583C>A (p.Pro528Gln) JAK2:c.2351C>A (p.Pro784Gln) MAP2K4:c.571C>G (p.Leu191Val) MAP2K4:c.538C>G (p.Leu180Val) MET:c.985C>A (p.Leu329Ile) MET:c.-91+27492C>A NTRK2:c.970T>A (p.Leu324Met) NTRK2:c.931T>A (p.Leu311Met) NTRK2:c.502T>A (p.Leu168Met) PRKAR1A:c.329C>T PRKAR1A:c.329C>T (p.Ala110Val) RBM15:c.1912C>A (p.Gln638Lys) SET:c.740A>G (p.Glu247Gly) SET:c.674A>G (p.Glu225Gly) SET:c.668A>G (p.Glu223Gly) SET:c.701A>G (p.Glu234Gly) TNFRSF17:c.524C>T (p.Thr175Met) TSC2:c.3284+1G>T TSC2:c.3155+1G>T TSC2:c.3152+1G>T TSC2:c.3044+1G>T TSC2:c.2552+1G>T TSC2:c.3008+1G>T TSC2:c.3185+1G>T PSAP:c.1378G>T (p.Glu460Ter) PSAP:c.1375G>T (p.Glu459Ter) PSAP:c.1369G>T (p.Glu457Ter) SET:c.816dup (p.Asp273fs) SET:c.750dup (p.Asp251fs) SET:c.744dup (p.Asp249fs) SET:c.777dup (p.Asp260fs) WT1:c.879_881delCTA (p.Tyr294del) WT1:c.756_758delCTA (p.Tyr253del) WT1:c.117_119delCTA (p.Tyr40del) WT1:c.880_882del (p.Tyr294del) WT1:c.864_866delCTA (p.Tyr289del) SMARCA4:c.1155_1157del (p.Glu386del) ARID1A:c.6259G>A (p.Gly2087Arg) ARID1A:c.5608G>A (p.Gly1870Arg) BRCA2:c.1075G>A (p.Glu359Lys) FOXO3:c.699G>A (p.Trp233Ter) NSD1:c.7147G>T (p.Gly2383Cys) NSD1:c.6727G>T (p.Gly2243Cys) NSD1:c.6394G>T (p.Gly2132Cys) NSD1:c.6385G>T (p.Gly2129Cys) NSD1:c.6274G>T (p.Gly2092Cys) NSD1:c.6025G>T (p.Gly2009Cys) NSD1:c.6340G>T (p.Gly2114Cys) PRCC:c.908C>T (p.Pro303Leu) RNF213:c.12841C>T (p.Arg4281Trp) SMARCA4:c.2729C>T (p.Thr910Met) SMARCA4:c.2729C>T TET2:c.4456T>C (p.Ser1486Pro) BRCA2:c.1273_1274del (p.Glu425fs) TSC2:c.2764_2765del (p.Leu922fs) TSC2:c.2653_2654del (p.Leu885fs) TSC2:c.2617_2618del (p.Leu873fs) TSC2:c.2164_2165del (p.Leu722fs) TSC2:c.2797_2798del (p.Leu933fs) NONO:c.731dup (p.Asn244fs) NONO:c.464dup (p.Asn155fs) ARID1A:c.2732G>T (p.Arg911Met) CTNNB1:c.1374A>C (p.Glu458Asp) CTNNB1:c.1353A>C (p.Glu451Asp) CTNNB1:c.770C>T (p.Thr257Ile) CTNNB1:c.749C>T (p.Thr250Ile) DDX3X:c.1592G>A (p.Arg531His) DDX3X:c.1544G>A (p.Arg515His) DDX3X:c.1034G>A (p.Arg345His) FOXO3:c.583A>T (p.Lys195Ter) MED12:c.5980C>T (p.Arg1994Trp) CLCN5:c.1466G>A (p.Trp489Ter) CLCN5:c.1676G>A (p.Trp559Ter) CLCN5:c.1526G>A (p.Trp509Ter) BRCA1:c.854A>G (p.His285Arg) BRCA1:c.851A>G (p.His284Arg) BRCA1:c.-123_-122AG[1] BRCA1:c.-242_-241AG[1] BRCA1:c.68_69del (p.Glu23fs) BRCA1:c.-22AG[1] BRCA1:c.66_67AG[1] (p.Glu23Valfs) | nucleaotide-sequencing | Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA oncology:2016 | |||||
CHEK2 gene | Malignant neoplasm of prostate Malignant neoplasm of kidney Malignant neoplasm of stomach Breast Carcinoma sarcoma | 86975 | heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | loss-of-function | Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2016 | ||
CHEK2 gene | Breast Carcinoma | 44777 | heterozygous | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2016 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene ATM gene | hereditary cancer | 439 | BRCA1:c.2075delC (p.Asp694Ilefs) BRCA1:c.2312delC (p.Asp773Ilefs) BRCA1:c.1952delC (p.Asp653Ilefs) BRCA1:c.1568delC (p.Asp525Ilefs) BRCA1:c.2456delC (p.Asp821Ilefs) BRCA1:c.2457del (p.Asp821fs) BRCA1:c.2316del (p.Asp774fs) BRCA1:c.787+1670del BRCA1:c.594-2A>C BRCA1:c.453-2A>C BRCA2:c.7543dup (p.Thr2515fs) BRCA2:c.8575del (p.Gln2859fs) BRCA1:c.131G>A (p.Cys44Tyr) BRCA1:c.-58G>T BRCA1:c.-173G>T BRCA1:c.-11G>T BRCA1:c.-289G>T BRCA1:c.131G>T (p.Cys44Phe) ATM:c.1564_1565del (p.Glu522fs) ATM:c.170G>A (p.Trp57Ter) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) ATM:c.8545C>T (p.Arg2849Ter) ATM:c.641-36798G>A ATM:c.695-10577G>A BRCA1:c.5193+1G>T BRCA1:c.5052+1G>T BRCA1:c.1881+1G>T BRCA1:c.5256+1G>T CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CDKN2A:c.35C>A (p.Ser12Ter) CDKN2A:c.-3-3585C>A CDKN2A:c.194-3585C>A BRCA2:c.5233del (p.Met1745CysfsTer?) | nucleaotide-sequencing | Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. Clinical cancer research : an official journal of the American Association for Cancer Research:2016 | |||||
Colorectal Carcinoma lynch syndrome | 274 | MLH3:c.885del (p.His296fs) BRCA1:c.4096+3A>G BRCA1:c.3955+3A>G BRCA1:c.788-400A>G BRCA1:c.2045A>G (p.Glu682Gly) BRCA1:c.2282A>G (p.Glu761Gly) BRCA1:c.1922A>G (p.Glu641Gly) BRCA1:c.1538A>G (p.Glu513Gly) BRCA1:c.2426A>G (p.Glu809Gly) BRCA1:c.2285A>G (p.Glu762Gly) BRCA1:c.787+1639A>G MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G MSH6:c.3261dup (p.Phe1088fs) MSH6:c.2871dup (p.Phe958fs) MSH6:c.2355dup (p.Phe786fs) MLH1:c.1896+1335G>A MLH1:c.1938+1G>A MLH1:c.1029+1G>A MLH1:c.1380+1G>A MLH1:c.2004+1G>A MLH1:c.1809+1G>A MLH1:c.1380+1G>C MLH1:c.1080+1G>C MLH1:c.1809+1G>C MLH1:c.1029+1G>C MLH1:c.2103+1G>C MLH1:c.2010+1G>C MSH2:c.1045C>G MSH2:c.1045C>G (p.Pro349Ala) MSH2:c.847C>G (p.Pro283Ala) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G BRCA2:c.714_716dup (p.Glu238_Ser239insArg) ATM:c.8494C>T (p.Arg2832Cys) ATM:c.641-36747G>A ATM:c.695-10526G>A PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G MUTYH:c.1143_1144dup (p.Glu382fs) MUTYH:c.1227_1228dup (p.Glu410fs) MUTYH:c.1188_1189dup (p.Glu397fs) MUTYH:c.1176_1177dup (p.Glu393fs) MUTYH:c.867_868dup (p.Glu290fs) MUTYH:c.798_799dup (p.Glu267fs) MUTYH:c.1218_1219dup (p.Glu407fs) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) APC:c.1139G>A (p.Arg380Gln) APC:c.1169G>A (p.Arg390Gln) APC:c.1064G>A (p.Arg355Gln) APC:c.1055G>A (p.Arg352Gln) APC:c.962G>A (p.Arg321Gln) APC:c.290G>A (p.Arg97Gln) APC:c.964-98G>A APC:c.859-98G>A APC:c.934-98G>A APC:c.757-98G>A ATM:c.8584+2T>C ATM:c.641-36839A>G ATM:c.695-10618A>G MSH6:c.2079dup (p.Cys694fs) MSH6:c.1689dup (p.Cys564fs) MSH6:c.1173dup (p.Cys392fs) APC:c.6190G>A (p.Ala2064Thr) APC:c.6166G>A (p.Ala2056Thr) APC:c.6061G>A (p.Ala2021Thr) APC:c.6052G>A (p.Ala2018Thr) APC:c.6013G>A (p.Ala2005Thr) APC:c.5959G>A (p.Ala1987Thr) APC:c.5863G>A (p.Ala1955Thr) APC:c.5833G>A (p.Ala1945Thr) APC:c.5758G>A (p.Ala1920Thr) APC:c.5656G>A (p.Ala1886Thr) APC:c.5287G>A (p.Ala1763Thr) PMS2:c.599A>T (p.Asn200Ile) PMS2:c.686A>T (p.Asn229Ile) PMS2:c.71A>T (p.Asn24Ile) PMS2:c.431A>T (p.Asn144Ile) PMS2:c.1004A>T (p.Asn335Ile) PMS2:c.695A>T (p.Asn232Ile) PMS2:c.583+2033A>T PMS2:c.988+2033A>T POLE:c.844C>T (p.Pro282Ser) POLE:c.844C>T POLE:c.4168C>T POLE:c.4168C>T (p.Arg1390Cys) PTEN:c.377C>T (p.Ala126Val) PTEN:c.896C>T (p.Ala299Val) PTEN:c.-374C>T PTEN:c.377C>T MSH6:c.1282A>G (p.Lys428Glu) MSH6:c.892A>G (p.Lys298Glu) MSH6:c.376A>G (p.Lys126Glu) MYH11:c.4624C>T (p.Arg1542Trp) MYH11:c.4624C>T MYH11:c.4603C>T MYH11:c.4603C>T (p.Arg1535Trp) MYH11:c.948-3164G>A MLH1:c.-1003C>T MLH1:c.-1116C>T MLH1:c.-1025C>T MLH1:c.-786C>T MLH1:c.-684C>T MLH1:c.-781C>T MLH1:c.-1013C>T MLH1:c.41C>T (p.Thr14Ile) BLM:c.2824-2A>T BLM:c.1699-2A>T POLE:c.229C>T (p.Arg77Cys) BLM:c.2983T>C (p.Tyr995His) BLM:c.1858T>C (p.Tyr620His) BLM:c.2983T>C MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A BRCA2:c.2808_2811del (p.Ala938fs) | sanger sequencing | Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clinical genetics:2017 | ||||||
FANCM gene RAD51D gene RAD51C gene PALB2 gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma or ovarian | 68 | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) RAD51D:c.576+1G>A RAD51D:c.240+1G>A RAD51D:c.636+1G>A | CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC cancer:2017 | |||||
CHEK2 gene BRCA2 gene BRCA1 gene | breast/ovarian cancer hereditary breast/ovarian cancer | 36 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | sanger sequencing multiplex ligation-dependent probe amplification | point mutation deletion duplication | Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing. Cancer genetics:2017 | |||
PLAG1 gene HMGA2 gene RAD51B gene CHEK2 gene | leiomyosarcoma Breast Carcinoma leiomyoma leiomyomas type leiomyosarcoma | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. Cold Spring Harbor molecular case studies:2017 | |||||
PALB2 gene CHEK2 gene BRCA2 gene | Breast Carcinoma Carcinoma of Male Breast genetic | 715 | c.1100delC | PALB2:c.3549C>G (p.Tyr1183Ter) ATM:c.5762_5763insNG_009830.1 ATM:c.5763-1050A>G ATM:c.641-39T>C ATM:c.*39-39T>C BRCA1:c.1855_1858AAAG[1] (p.Arg621Lysfs) BRCA1:c.1852_1855AAAG[1] (p.Arg620Lysfs) BRCA1:c.1849_1852AAAG[1] (p.Arg619Lysfs) BRCA1:c.1786_1789AAAG[1] (p.Arg598Lysfs) BRCA1:c.1783_1786AAAG[1] (p.Arg597Lysfs) BRCA2:c.1296_1297del (p.Asn433fs) BRCA2:c.1929del (p.Arg645fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.518del BRCA2:c.5350_5351del (p.Asn1784fs) BRCA2:c.5799_5802del (p.Asn1933fs) BRCA2:c.778_779del (p.Glu260fs) BRCA2:c.7976G>A (p.Arg2659Lys) BRCA2:c.7977-1G>C BRCA2:c.8331+1G>A BRCA2:c.9076C>T (p.Gln3026Ter) BRCA2:c.9253dup BRCA2:c.9253dup (p.Thr3085fs) BRCA2:c.9435_9436delGT BRCA2:c.9435_9436del (p.Ser3147fs) BRCA2:c.3975_3978dup (p.Ala1327fs) BRCA2:c.4456_4459del (p.Val1486fs) BRCA2:c.475G>A (p.Val159Met) BRCA2:c.4940_4941del (p.Thr1647fs) BRCA2:c.5130_5133del (p.Asp1709_Tyr1710insTer) BRCA2:c.5616_5620del (p.Lys1872fs) BRCA2:c.5857G>T (p.Glu1953Ter) BRCA2:c.6676_6677del (p.Glu2226fs) BRCA2:c.7007G>C (p.Arg2336Pro) BRCA2:c.8575C>T (p.Gln2859Ter) BRCA2:c.9331G>T (p.Glu3111Ter) BRCA2:c.6068_6072del (p.Asp2023fs) BRCA2:c.1642C>T (p.Gln548Ter) BARD1:c.1690C>T BARD1:c.1690C>T (p.Gln564Ter) BARD1:c.1633C>T (p.Gln545Ter) BARD1:c.337C>T (p.Gln113Ter) BARD1:c.280C>T (p.Gln94Ter) BARD1:c.365-15334C>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.661_662delinsTA (p.Val221Ter) PTEN:c.1061C>A PTEN:c.1061C>A (p.Pro354Gln) PTEN:c.1580C>A (p.Pro527Gln) PTEN:c.470C>A (p.Pro157Gln) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del PALB2:c.109-2A>G ATM:c.901+1G>A MRE11:c.1867+2T>C MRE11:c.1864+2T>C MRE11:c.1783+1411T>C CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T BRCA2:c.3257_3258del (p.Ile1086fs) RAD51D:c.270_271dup (p.Lys91fs) RAD51D:c.330_331dup (p.Lys111fs) RAD51D:c.145-960_145-959dup BRCA2:c.7865dup (p.Asn2622fs) BRCA2:c.6938-1G>A NF1:c.1721+3A>G NF1:c.1724A>G (p.Tyr575Cys) PALB2:c.93dup PALB2:c.93dup (p.Leu32fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast cancer research and treatment:2017 | |||||
PALB2 gene CDH1 gene ATM gene MUTYH gene APC gene CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Colon Carcinoma Breast Carcinoma | 118 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) CDH1:c.1018A>G CDH1:c.1018A>G (p.Thr340Ala) CDH1:c.-598A>G CDH1:c.-802A>G CDH1:c.2494G>A CDH1:c.2311G>A (p.Val771Met) CDH1:c.946G>A (p.Val316Met) CDH1:c.529G>A (p.Val177Met) CDH1:c.2494G>A (p.Val832Met) BRCA1:c.3433C>T (p.Gln1145Ter) BRCA1:c.3049C>T (p.Gln1017Ter) BRCA1:c.1333C>T (p.Gln445Ter) BRCA1:c.3937C>T (p.Gln1313Ter) BRCA1:c.3796C>T (p.Gln1266Ter) BRCA1:c.788-562C>T BRCA1:c.5049+6T>C BRCA1:c.4986+6T>C BRCA1:c.4845+6T>C BRCA1:c.1674+6T>C BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.9294C>G (p.Tyr3098Ter) BRCA2:c.7504C>T (p.Arg2502Cys) MSH6:c.2667G>T (p.Gln889His) MSH6:c.2277G>T (p.Gln759His) MSH6:c.1761G>T (p.Gln587His) PMS2:c.167A>G (p.Tyr56Cys) PMS2:c.572A>G (p.Tyr191Cys) PMS2:c.254A>G (p.Tyr85Cys) PMS2:c.263A>G (p.Tyr88Cys) PMS2:c.133-1818A>G PMS2:c.-347-15A>G TP53:c.241C>T (p.Arg81Ter) TP53:c.520C>T (p.Arg174Ter) TP53:c.160C>T (p.Arg54Ter) BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) BRCA1:c.427_436dup (p.Thr149Alafs) BRCA1:c.664_673dup (p.Thr228Alafs) BRCA1:c.304_313dup (p.Thr108Alafs) BRCA1:c.-81_-72dup BRCA1:c.808_817dup (p.Thr276Alafs) BRCA1:c.815_824dup (p.Thr276fs) BRCA1:c.674_683dup (p.Thr229fs) BRCA1:c.787+28_787+37dup PALB2:c.2674G>A (p.Glu892Lys) ATM:c.2932T>C (p.Ser978Pro) ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G PMS2:c.857A>G (p.Asp286Gly) PMS2:c.539A>G (p.Asp180Gly) PMS2:c.452A>G (p.Asp151Gly) PMS2:c.-77A>G PMS2:c.284A>G (p.Asp95Gly) PMS2:c.548A>G (p.Asp183Gly) PMS2:c.857A>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) BRIP1:c.1774T>G (p.Trp592Gly) BRCA2:c.6331_6332del (p.Lys2111fs) APC:c.479A>G (p.Lys160Arg) APC:c.374A>G (p.Lys125Arg) APC:c.449A>G (p.Lys150Arg) APC:c.272A>G (p.Lys91Arg) APC:c.-587A>G APC:c.449A>G CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T BRIP1:c.550G>T (p.Asp184Tyr) ATM:c.2927T>C (p.Val976Ala) MSH2:c.2048G>T MSH2:c.2048G>T (p.Gly683Val) MSH2:c.1850G>T (p.Gly617Val) MLH1:c.593T>C (p.Leu198Ser) MLH1:c.-137T>C MLH1:c.887T>C (p.Leu296Ser) MLH1:c.788T>C (p.Leu263Ser) MLH1:c.-36-5325T>C ATM:c.4148C>T (p.Ser1383Leu) BRIP1:c.3378A>C (p.Glu1126Asp) BRCA2:c.6176G>A (p.Ser2059Asn) CHEK2:c.1567C>T CHEK2:c.1696C>T (p.Arg566Cys) CHEK2:c.904C>T (p.Arg302Cys) CHEK2:c.1366C>T (p.Arg456Cys) CHEK2:c.1567C>T (p.Arg523Cys) CHEK2:c.1480C>T (p.Arg494Cys) APC:c.7525A>G (p.Met2509Val) APC:c.7501A>G (p.Met2501Val) APC:c.7396A>G (p.Met2466Val) APC:c.7387A>G (p.Met2463Val) APC:c.7348A>G (p.Met2450Val) APC:c.7294A>G (p.Met2432Val) APC:c.7198A>G (p.Met2400Val) APC:c.7168A>G (p.Met2390Val) APC:c.7093A>G (p.Met2365Val) APC:c.6991A>G (p.Met2331Val) APC:c.6622A>G (p.Met2208Val) BRCA2:c.1384G>T (p.Glu462Ter) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.6331_6332dup (p.Asn2113GlufsTer7) | Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. Breast cancer research and treatment:2017 | ||||||
PALB2 gene RAD51D gene BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate prostate | 692 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T BRCA2:c.6591_6592del (p.Glu2198fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.3170_3174del (p.Lys1057fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4472_4475del (p.Leu1491fs) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.5645C>A (p.Ser1882Ter) BRCA2:c.8575del (p.Gln2859fs) BRCA2:c.517-2A>G BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.6757_6758del (p.Leu2253fs) BRCA2:c.8754+4A>G BRCA2:c.5864C>G (p.Ser1955Ter) BRCA1:c.4009C>T (p.Gln1337Ter) BRCA1:c.913C>T (p.Gln305Ter) BRCA1:c.4222C>T (p.Gln1408Ter) BRCA1:c.4099C>T (p.Gln1367Ter) BRCA1:c.3958C>T (p.Gln1320Ter) BRCA1:c.5075-1G>A BRCA1:c.4934-1G>A BRCA1:c.1763-1G>A BRCA1:c.5138-1G>A BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.2385_2388delAGTT (p.Val796Ilefs) BRCA1:c.2622_2625delAGTT (p.Val875Ilefs) BRCA1:c.2262_2265delAGTT (p.Val755Ilefs) BRCA1:c.1878_1881delAGTT (p.Val627Ilefs) BRCA1:c.2766_2769delAGTT (p.Val923Ilefs) BRCA1:c.2767_2770del (p.Val923fs) BRCA1:c.2626_2629del (p.Val876fs) BRCA1:c.788-1732_788-1729del MSH6:c.642C>G (p.Tyr214Ter) MSH6:c.252C>G (p.Tyr84Ter) MSH6:c.-265C>G PALB2:c.3113G>A (p.Trp1038Ter) ATM:c.1339C>T (p.Arg447Ter) ATM:c.3802del (p.Glu1267_Val1268insTer) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A ATM:c.7630-2A>C ATM:c.641-22806T>G ATM:c.*38+3343T>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A BRIP1:c.2273dup (p.Ala759fs) ATM:c.1402_1403del (p.Lys468fs) ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T ATM:c.4373del (p.Gly1458fs) ATM:c.790del (p.Tyr264fs) CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.226del (p.Ile76fs) PALB2:c.2052del (p.Arg686fs) ATM:c.742C>T (p.Arg248Ter) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del MRE11:c.1222dup (p.Thr408fs) RAD51C:c.181_182delCT RAD51C:c.181_182del (p.Leu61fs) RAD51C:c.709C>T RAD51C:c.709C>T (p.Arg237Ter) MSH2:c.408del MSH2:c.408del (p.Phe136fs) MSH2:c.210del (p.Phe70fs) BRCA2:c.8754+4A>T BARD1:c.457_460dupAAAG BARD1:c.457_460dup (p.Val154fs) BARD1:c.400_403dup (p.Val135fs) BARD1:c.158+27995_158+27998dup BARD1:c.215+15644_215+15647dup BARD1:c.364+10880_364+10883dup BRCA2:c.4544dup (p.Ile1516fs) NBN:c.1958dup (p.Leu654fs) NBN:c.1712dup (p.Leu572fs) ATM:c.5910del ATM:c.5910del (p.Glu1971fs) ATM:c.641-1235del ATM:c.*39-1235del RAD51D:c.386dup (p.Gly130fs) RAD51D:c.326dup (p.Gly110fs) RAD51D:c.145-904dup NBN:c.56del NBN:c.-241del NBN:c.56del (p.Leu18_Leu19insTer) BRCA2:c.4691dup (p.Thr1566fs) BRCA2:c.2097delG (p.Gln699Hisfs) BRCA2:c.2097del (p.Gln699fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) RAD51D:c.264-1G>A RAD51D:c.145-967G>A RAD51D:c.324-1G>A RAD51D:c.814del (p.Thr272fs) RAD51D:c.754del (p.Thr252fs) RAD51D:c.418del (p.Thr140fs) BRCA1:c.2767_2770del (p.Val923IlefsTer?) BRCA1:c.2626_2629del (p.Val876IlefsTer?) BRCA1:c.788-1732_788-1729del (n.788-1732_788-1729del) BRCA2:c.2094del (p.Gln699SerfsTer?) BRCA2:c.4544dup (p.Ile1516AspfsTer13) BRCA2:c.4691dup (p.Thr1566AspfsTer9) BRCA2:c.5364dup (p.Lys1789GlnfsTer18) BRCA2:c.5585_5588del (p.Val1862GlufsTer11) | nucleaotide-sequencing | autosomal dominant | Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53. Urologic oncology:2017 | ||||
RAD51C gene CHEK2 gene PTEN gene TP53 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary breast or ovarian cancer breast and ovarian cancer | 95 | BRCA2:c.7480C>T (p.Arg2494Ter) BRCA2:c.7480C>T BRCA2:c.8314G>T (p.Glu2772Ter) BRCA1:c.3121delT (p.Leu1041Terfs) BRCA1:c.2737delT (p.Leu913Terfs) BRCA1:c.1021delT (p.Leu341Terfs) BRCA1:c.3625delT (p.Leu1209Terfs) BRCA1:c.3626del (p.Lys1208_Leu1209insTer) BRCA1:c.3485del (p.Lys1161_Leu1162insTer) BRCA1:c.788-873del BRCA1:c.5278-1G>C BRCA1:c.5137-1G>C BRCA1:c.1966-1G>C BRCA1:c.5341-1G>C BRCA1:c.966C>G (p.Tyr322Ter) BRCA1:c.963C>G (p.Tyr321Ter) BRCA1:c.843C>G (p.Tyr281Ter) BRCA1:c.4656C>G (p.Tyr1552Ter) BRCA1:c.4515C>G (p.Tyr1505Ter) BRCA1:c.1344C>G (p.Tyr448Ter) BRCA1:c.4719C>G (p.Tyr1573Ter) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A TP53:c.448C>G (p.Arg150Gly) TP53:c.727C>G (p.Arg243Gly) TP53:c.367C>G (p.Arg123Gly) RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) RAD51C:c.837+1G>C RAD51C:c.837+1G>A BRCA1:c.4656C>A (p.Tyr1552Ter) BRCA1:c.4515C>A (p.Tyr1505Ter) BRCA1:c.1344C>A (p.Tyr448Ter) BRCA1:c.4719C>A (p.Tyr1573Ter) BRCA2:c.1286T>G (p.Leu429Ter) | nucleaotide-sequencing | premature stop | Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. Clinical genetics:2018 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast | 41 | p.Ile157Thr p.Arg145Trp c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | CHEK2 Germ Line Mutations are Lacking among Familialand Sporadic Breast Cancer Patients in Rwanda Asian Pacific journal of cancer prevention : APJCP:2018 | ||||
RAF1 gene MST1R gene ERBB2 gene NOTCH2 gene ERCC1 gene BARD1 gene ATM gene CHEK2 gene TP53 gene | hereditary breast cancer known breast cancer | 17 | c.1100delC | SOS1:c.3347-1G>A SOS1:c.3326-1G>A SOS1:c.3347-1724G>A APC:c.1658C>T (p.Ser553Phe) APC:c.1634C>T (p.Ser545Phe) APC:c.1529C>T (p.Ser510Phe) APC:c.1520C>T (p.Ser507Phe) APC:c.1481C>T (p.Ser494Phe) APC:c.1427C>T (p.Ser476Phe) APC:c.1331C>T (p.Ser444Phe) APC:c.1301C>T (p.Ser434Phe) APC:c.1226C>T (p.Ser409Phe) APC:c.1124C>T (p.Ser375Phe) APC:c.755C>T (p.Ser252Phe) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del SLX4:c.3368C>A SLX4:c.3368C>A (p.Ser1123Tyr) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) TSC2:c.3584C>T TSC2:c.3485C>T (p.Ala1162Val) TSC2:c.3455C>T (p.Ala1152Val) TSC2:c.3584C>T (p.Ala1195Val) TSC2:c.3452C>T (p.Ala1151Val) TSC2:c.3344C>T (p.Ala1115Val) TSC2:c.3308C>T (p.Ala1103Val) MSH3:c.2659G>A MSH3:c.2659G>A (p.Asp887Asn) SLX4:c.4766G>A SLX4:c.4766G>A (p.Arg1589His) BARD1:c.2215dupT BARD1:c.2215dup (p.Tyr739fs) BARD1:c.2158dup (p.Tyr720fs) BARD1:c.862dup (p.Tyr288fs) BARD1:c.805dup (p.Tyr269fs) BARD1:c.676dup (p.Tyr226fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. Frontiers in genetics:2018 | ||||
TP53 gene RAD51D gene RAD51C gene PALB2 gene NBN gene CHEK2 gene CDH1 gene ATM gene | Breast Carcinoma hereditary breast cancer | 5589 | heterozygous | NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.4060C>A (p.Pro1354Thr) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) TP53:c.644C>A (p.Ala215Asp) TP53:c.*147C>A TP53:c.*59C>A TP53:c.923C>A (p.Ala308Asp) TP53:c.563C>A (p.Ala188Asp) PALB2:c.1001A>G (p.Tyr334Cys) PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.2752C>T (p.Pro918Ser) PALB2:c.2903C>G (p.Ala968Gly) PALB2:c.3251C>T (p.Ser1084Leu) PALB2:c.3428T>A (p.Leu1143His) CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) ATM:c.1010G>A (p.Arg337His) ATM:c.1516G>T (p.Gly506Cys) ATM:c.1564_1565del (p.Glu522fs) ATM:c.2333A>G (p.Asn778Ser) ATM:c.2770C>T (p.Arg924Trp) ATM:c.4709T>C (p.Val1570Ala) ATM:c.5185G>C (p.Val1729Leu) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.610G>A (p.Gly204Arg) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C NBN:c.1421T>A (p.Val474Glu) NBN:c.1667T>A (p.Val556Glu) NBN:c.1903A>T (p.Thr635Ser) NBN:c.2149A>T (p.Thr717Ser) NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) NBN:c.595C>T (p.Pro199Ser) NBN:c.349C>T (p.Pro117Ser) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1525C>T CHEK2:c.1654C>T (p.Pro552Ser) CHEK2:c.862C>T (p.Pro288Ser) CHEK2:c.1324C>T (p.Pro442Ser) CHEK2:c.1525C>T (p.Pro509Ser) CHEK2:c.1438C>T (p.Pro480Ser) CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) PALB2:c.194C>T (p.Pro65Leu) RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ATM:c.3630G>A (p.Met1210Ile) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.8071C>T (p.Arg2691Cys) ATM:c.641-25958G>A ATM:c.*38+191G>A ATM:c.8921C>T (p.Pro2974Leu) ATM:c.640+20768G>A ATM:c.694+20768G>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) ATM:c.7592T>C (p.Met2531Thr) ATM:c.641-22449A>G ATM:c.*38+3700A>G ATM:c.*1317A>G NBN:c.1925A>G (p.Lys642Arg) NBN:c.1679A>G (p.Lys560Arg) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) RAD51D:c.796C>T (p.Arg266Cys) RAD51D:c.856C>T (p.Arg286Cys) RAD51D:c.460C>T (p.Arg154Cys) PALB2:c.1037_1041del (p.Lys346fs) RAD51D:c.196G>A (p.Val66Met) RAD51D:c.144+543G>A ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.7328G>A (p.Arg2443Gln) ATM:c.641-21163C>T ATM:c.*38+4986C>T ATM:c.670A>G (p.Lys224Glu) NBN:c.803C>T (p.Thr268Met) NBN:c.557C>T (p.Thr186Met) ATM:c.3832G>A (p.Asp1278Asn) ATM:c.4724G>A (p.Arg1575His) ATM:c.6257A>T (p.Tyr2086Phe) ATM:c.641-8360T>A ATM:c.*39-8360T>A ATM:c.8428A>C (p.Lys2810Gln) ATM:c.641-36681T>G ATM:c.695-10460T>G PALB2:c.2106A>G (p.Ile702Met) PALB2:c.37G>A (p.Glu13Lys) RAD51D:c.845C>T (p.Pro282Leu) RAD51D:c.785C>T (p.Pro262Leu) RAD51D:c.449C>T (p.Pro150Leu) RAD51C:c.224dup (p.Tyr75Ter) RAD51C:c.224dupA RAD51C:c.224_225insA CHEK2:c.1039G>A CHEK2:c.1168G>A (p.Asp390Asn) CHEK2:c.376G>A (p.Asp126Asn) CHEK2:c.838G>A (p.Asp280Asn) CHEK2:c.1039G>A (p.Asp347Asn) CHEK2:c.1009-1084G>A CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A NBN:c.506G>A (p.Arg169His) NBN:c.260G>A (p.Arg87His) ATM:c.5938G>A (p.Gly1980Arg) ATM:c.641-3359C>T ATM:c.*39-3359C>T ATM:c.6860G>A (p.Gly2287Glu) ATM:c.641-17039C>T ATM:c.*38+9110C>T ATM:c.7375C>T (p.Arg2459Cys) ATM:c.641-21210G>A ATM:c.*38+4939G>A ATM:c.7463G>A (p.Cys2488Tyr) ATM:c.641-21298C>T ATM:c.*38+4851C>T PALB2:c.2792T>G (p.Leu931Arg) PALB2:c.1097A>G (p.Asn366Ser) PALB2:c.109C>A (p.Arg37Ser) PALB2:c.100C>T (p.Arg34Cys) TP53:c.-104dup TP53:c.259-2dup TP53:c.376-2dup CHEK2:c.1091T>C CHEK2:c.1220T>C (p.Ile407Thr) CHEK2:c.428T>C (p.Ile143Thr) CHEK2:c.890T>C (p.Ile297Thr) CHEK2:c.1091T>C (p.Ile364Thr) CHEK2:c.1009-1032T>C ATM:c.902G>A (p.Gly301Asp) NBN:c.211_212insGA (p.Asn71fs) NBN:c.-36_-35insGA ATM:c.1943T>C (p.Val648Ala) PALB2:c.2470dup (p.Cys824fs) PALB2:c.3073G>A (p.Ala1025Thr) NBN:c.1659G>A (p.Met553Ile) NBN:c.1413G>A (p.Met471Ile) NBN:c.1651dup (p.Arg551fs) NBN:c.1405dup (p.Arg469fs) NBN:c.1417C>A (p.Gln473Lys) NBN:c.1171C>A (p.Gln391Lys) ATM:c.200A>G (p.Tyr67Cys) ATM:c.3078G>T (p.Trp1026Cys) ATM:c.5263A>G (p.Met1755Val) ATM:c.8015A>C (p.Asp2672Ala) ATM:c.641-25902T>G ATM:c.*38+247T>G ATM:c.9019G>T (p.Glu3007Ter) ATM:c.640+20564C>A ATM:c.694+20564C>A PALB2:c.3494C>T (p.Ser1165Leu) PALB2:c.2325A>C (p.Gln775His) PALB2:c.1704A>C (p.Gln568His) RAD51C:c.397C>A RAD51C:c.397C>A (p.Gln133Lys) ATM:c.6914_6915AG[1] (p.Leu2307Cysfs) ATM:c.6916_6917del (p.Leu2307fs) ATM:c.641-17094_641-17093del ATM:c.*38+9055_*38+9056del ATM:c.3852del ATM:c.3852del (p.Asp1285fs) PALB2:c.13C>T (p.Pro5Ser) ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T ATM:c.8895G>C (p.Leu2965Phe) ATM:c.640+20794C>G ATM:c.694+20794C>G CHEK2:c.1556G>A CHEK2:c.1685G>A (p.Arg562Gln) CHEK2:c.893G>A (p.Arg298Gln) CHEK2:c.1355G>A (p.Arg452Gln) CHEK2:c.1556G>A (p.Arg519Gln) CHEK2:c.1469G>A (p.Arg490Gln) PALB2:c.1128T>G (p.Ser376Arg) ATM:c.2158C>T (p.Arg720Cys) ATM:c.4873A>G (p.Lys1625Glu) PALB2:c.1424dup (p.Arg476fs) RAD51D:c.202G>A (p.Gly68Ser) RAD51D:c.144+549G>A RAD51D:c.689C>A (p.Ala230Glu) RAD51D:c.629C>A (p.Ala210Glu) RAD51D:c.293C>A (p.Ala98Glu) TP53:c.404G>C (p.Arg135Pro) TP53:c.683G>C (p.Arg228Pro) TP53:c.323G>C (p.Arg108Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CDH1:c.1468G>A CDH1:c.1285G>A (p.Glu429Lys) CDH1:c.-81G>A CDH1:c.-352G>A CDH1:c.1468G>A (p.Glu490Lys) ATM:c.4237G>A (p.Asp1413Asn) ATM:c.8150A>G (p.Lys2717Arg) ATM:c.641-26037T>C ATM:c.*38+112T>C ATM:c.5319+2T>C RAD51D:c.80C>T (p.Thr27Ile) CDH1:c.1568A>G CDH1:c.1385A>G (p.Tyr462Cys) CDH1:c.20A>G (p.Tyr7Cys) CDH1:c.1568A>G (p.Tyr523Cys) CDH1:c.-254-2719A>G NBN:c.119C>T (p.Ser40Leu) NBN:c.-178C>T CDH1:c.2336G>A CDH1:c.2153G>A (p.Arg718Gln) CDH1:c.788G>A (p.Arg263Gln) CDH1:c.371G>A (p.Arg124Gln) CDH1:c.2336G>A (p.Arg779Gln) CDH1:c.344C>T CDH1:c.344C>T (p.Thr115Met) CDH1:c.-1272C>T CDH1:c.-1476C>T CDH1:c.1988A>G CDH1:c.1805A>G (p.Tyr602Cys) CDH1:c.440A>G (p.Tyr147Cys) CDH1:c.23A>G (p.Tyr8Cys) CDH1:c.1988A>G (p.Tyr663Cys) CHEK2:c.307T>C CHEK2:c.307T>C (p.Phe103Leu) CHEK2:c.-471T>C PALB2:c.1748T>G (p.Leu583Trp) CHEK2:c.1510A>G (p.Thr504Ala) CHEK2:c.1597A>G CHEK2:c.1726A>G (p.Thr576Ala) CHEK2:c.934A>G (p.Thr312Ala) CHEK2:c.1396A>G (p.Thr466Ala) CHEK2:c.1597A>G (p.Thr533Ala) ATM:c.2836A>G (p.Met946Val) ATM:c.737A>G (p.Asn246Ser) PALB2:c.18G>T (p.Gly6=) CHEK2:c.592+3A>T CHEK2:c.445-51A>T CHEK2:c.-186+3A>T CHEK2:c.721+3A>T CHEK2:c.1282T>C CHEK2:c.1153T>C CHEK2:c.1282T>C (p.Cys428Arg) CHEK2:c.490T>C (p.Cys164Arg) CHEK2:c.952T>C (p.Cys318Arg) CHEK2:c.1153T>C (p.Cys385Arg) CHEK2:c.1066T>C (p.Cys356Arg) PALB2:c.1448C>T (p.Ser483Leu) TP53:c.*146G>A TP53:c.*58G>A TP53:c.922G>A (p.Ala308Thr) TP53:c.562G>A (p.Ala188Thr) TP53:c.1039G>A (p.Ala347Thr) PALB2:c.2736G>A PALB2:c.2736G>A (p.Trp912Ter) ATM:c.2423C>T ATM:c.2423C>T (p.Thr808Ile) NBN:c.2029G>A (p.Asp677Asn) NBN:c.1783G>A (p.Asp595Asn) NBN:c.596C>G (p.Pro199Arg) NBN:c.350C>G (p.Pro117Arg) ATM:c.322G>A (p.Ala108Thr) ATM:c.6604T>G (p.Tyr2202Asp) ATM:c.641-16270A>C ATM:c.*38+9879A>C ATM:c.8228C>T (p.Thr2743Met) ATM:c.641-26850G>A ATM:c.695-629G>A ATM:c.9166G>T (p.Val3056Leu) ATM:c.640+20417C>A ATM:c.694+20417C>A CHEK2:c.322T>C CHEK2:c.451T>C (p.Cys151Arg) CHEK2:c.-456T>C CHEK2:c.322T>C (p.Cys108Arg) ATM:c.7568T>G (p.Leu2523Trp) ATM:c.*1341A>C ATM:c.641-22425A>C ATM:c.*38+3724A>C ATM:c.2519A>T (p.Asp840Val) ATM:c.6983C>T (p.Pro2328Leu) ATM:c.641-18581G>A ATM:c.*38+7568G>A ATM:c.7865C>G (p.Ala2622Gly) ATM:c.641-23767G>C ATM:c.*38+2382G>C ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T CDH1:c.1766A>G CDH1:c.1583A>G (p.Asn528Ser) CDH1:c.218A>G (p.Asn73Ser) CDH1:c.-200A>G CDH1:c.1766A>G (p.Asn589Ser) TP53:c.289T>G (p.Cys97Gly) TP53:c.568T>G (p.Cys190Gly) TP53:c.208T>G (p.Cys70Gly) NBN:c.1919A>G (p.Asn640Ser) NBN:c.1673A>G (p.Asn558Ser) ATM:c.7235A>G (p.Asn2412Ser) ATM:c.641-20095T>C ATM:c.*38+6054T>C RAD51C:c.613C>A (p.Leu205Ile) RAD51C:c.706-1G>A RAD51C:c.862del (p.Thr288fs) RAD51C:c.621T>A RAD51C:c.621T>A (p.His207Gln) CDH1:c.939C>G CDH1:c.939C>G (p.Asp313Glu) CDH1:c.-677C>G CDH1:c.-881C>G CDH1:c.2368A>G CDH1:c.2185A>G (p.Thr729Ala) CDH1:c.820A>G (p.Thr274Ala) CDH1:c.403A>G (p.Thr135Ala) CDH1:c.2368A>G (p.Thr790Ala) PALB2:c.3331C>G (p.Pro1111Ala) CHEK2:c.1033C>T CHEK2:c.1162C>T (p.His388Tyr) CHEK2:c.370C>T (p.His124Tyr) CHEK2:c.832C>T (p.His278Tyr) CHEK2:c.1033C>T (p.His345Tyr) CHEK2:c.1009-1090C>T CHEK2:c.1399_1401delTTG CHEK2:c.1525TTG[1] (p.Leu510del) CHEK2:c.733TTG[1] (p.Leu246del) CHEK2:c.1195TTG[1] (p.Leu400del) CHEK2:c.1396TTG[1] (p.Leu467del) CHEK2:c.1309TTG[1] (p.Leu438del) CHEK2:c.1546_1557del (p.Ala516_Thr519del) CHEK2:c.754_765del (p.Ala252_Thr255del) CHEK2:c.1216_1227del (p.Ala406_Thr409del) CHEK2:c.1417_1428del (p.Ala473_Thr476del) CHEK2:c.1330_1341del (p.Ala444_Thr447del) CHEK2:c.1417_1428del12 RAD51C:c.520A>G RAD51C:c.520A>G (p.Thr174Ala) ATM:c.3565C>T (p.Leu1189Phe) PALB2:c.2750T>C (p.Val917Ala) PALB2:c.229T>C (p.Cys77Arg) CDH1:c.2356G>A CDH1:c.2173G>A (p.Asp725Asn) CDH1:c.808G>A (p.Asp270Asn) CDH1:c.391G>A (p.Asp131Asn) CDH1:c.2356G>A (p.Asp786Asn) CHEK2:c.1408G>C CHEK2:c.1537G>C (p.Asp513His) CHEK2:c.745G>C (p.Asp249His) CHEK2:c.1207G>C (p.Asp403His) CHEK2:c.1408G>C (p.Asp470His) CHEK2:c.1321G>C (p.Asp441His) ATM:c.5262G>T (p.Lys1754Asn) NBN:c.1622C>G (p.Ala541Gly) NBN:c.1376C>G (p.Ala459Gly) CHEK2:c.695G>A CHEK2:c.824G>A (p.Gly275Glu) CHEK2:c.32G>A (p.Gly11Glu) CHEK2:c.494G>A (p.Gly165Glu) CHEK2:c.695G>A (p.Gly232Glu) TP53:c.286_288delTCT TP53:c.283TCT[1] (p.Ser96del) TP53:c.166TCT[1] (p.Ser57del) CDH1:c.2033T>C CDH1:c.1850T>C (p.Val617Ala) CDH1:c.485T>C (p.Val162Ala) CDH1:c.68T>C (p.Val23Ala) CDH1:c.2033T>C (p.Val678Ala) ATM:c.4631A>G (p.Tyr1544Cys) ATM:c.5237G>T (p.Gly1746Val) CHEK2:c.1591G>T CHEK2:c.1720G>T (p.Glu574Ter) CHEK2:c.928G>T (p.Glu310Ter) CHEK2:c.1390G>T (p.Glu464Ter) CHEK2:c.1591G>T (p.Glu531Ter) CHEK2:c.1504G>T (p.Glu502Ter) CDH1:c.261G>C CDH1:c.261G>C (p.Arg87Ser) CDH1:c.-1355G>C CDH1:c.-1559G>C RAD51D:c.959G>A (p.Arg320Gln) RAD51D:c.899G>A (p.Arg300Gln) RAD51D:c.563G>A (p.Arg188Gln) ATM:c.8098A>T (p.Lys2700Ter) ATM:c.641-25985T>A ATM:c.*38+164T>A ATM:c.5319+1G>T NBN:c.350C>T (p.Ser117Phe) NBN:c.104C>T (p.Ser35Phe) ATM:c.8806G>C (p.Glu2936Gln) ATM:c.640+31090C>G ATM:c.695-19538C>G ATM:c.2662G>C (p.Glu888Gln) ATM:c.8314G>A (p.Gly2772Arg) ATM:c.641-34196C>T ATM:c.695-7975C>T CDH1:c.781G>A CDH1:c.781G>A (p.Glu261Lys) CDH1:c.-835G>A CDH1:c.-1039G>A RAD51D:c.758G>A (p.Arg253Gln) RAD51D:c.818G>A (p.Arg273Gln) RAD51D:c.422G>A (p.Arg141Gln) ATM:c.3403-3A>C PALB2:c.839del (p.Asn280fs) NBN:c.2201C>T (p.Ala734Val) NBN:c.1955C>T (p.Ala652Val) PALB2:c.481G>C (p.Asp161His) RAD51C:c.193A>G RAD51C:c.193A>G (p.Arg65Gly) CHEK2:c.1382A>G CHEK2:c.1511A>G (p.Asp504Gly) CHEK2:c.719A>G (p.Asp240Gly) CHEK2:c.1181A>G (p.Asp394Gly) CHEK2:c.1382A>G (p.Asp461Gly) CHEK2:c.1295A>G (p.Asp432Gly) CDH1:c.1103C>G CDH1:c.1103C>G (p.Thr368Ser) CDH1:c.-513C>G CDH1:c.-717C>G ATM:c.5476T>G (p.Leu1826Val) ATM:c.6215G>C (p.Gly2072Ala) ATM:c.641-8318C>G ATM:c.*39-8318C>G PALB2:c.1292G>A (p.Ser431Asn) ATM:c.3709A>T (p.Ile1237Phe) PALB2:c.3433G>T (p.Gly1145Cys) PALB2:c.1919C>G (p.Ser640Ter) NBN:c.343G>A (p.Ala115Thr) NBN:c.97G>A (p.Ala33Thr) RAD51D:c.1031A>T (p.Gln344Leu) RAD51D:c.971A>T (p.Gln324Leu) RAD51D:c.635A>T (p.Gln212Leu) RAD51D:c.167T>G (p.Val56Gly) RAD51D:c.144+514T>G RAD51C:c.65C>T (p.Ala22Val) RAD51C:c.308T>A (p.Phe103Tyr) RAD51C:c.388G>A (p.Gly130Arg) RAD51D:c.26G>C (p.Cys9Ser) | Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer medicine:2018 | |||||
ERCC6L2 gene MECOM gene SAMD9L gene SAMD9 gene LIG4 gene RPL5 gene DNAJC21 gene SBDS gene RTEL1 gene TERT gene TERC gene RUNX1 gene GATA2 gene BMF gene | myelodysplasia ribosome disorders telomeropathies hematopoietic disorders bone marrow | 179 | 173 | TNFRSF13B:c.310T>C (p.Cys104Arg) CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) PTPN11:c.1519G>C PTPN11:c.1507G>C PTPN11:c.1507G>C (p.Gly503Arg) PTPN11:c.1519G>C (p.Gly507Arg) PTPN11:c.1504G>C (p.Gly502Arg) ERCC6L2:c.1930C>T (p.Arg644Ter) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) LIG4:c.1070_1074del (p.Lys357fs) LIG4:c.1271_1275del (p.Lys424fs) LIG4:c.1307_1311del (p.Lys436fs) KIT:c.2663G>A (p.Arg888Gln) KIT:c.2651G>A (p.Arg884Gln) KIT:c.2666G>A (p.Arg889Gln) KIT:c.2660G>A (p.Arg887Gln) KIT:c.2648G>A (p.Arg883Gln) KIT:c.2654G>A (p.Arg885Gln) ERCC6L2:c.52C>T ERCC6L2:c.19C>T (p.Gln7Ter) GATA2:c.1084C>T GATA2:c.1084C>T (p.Arg362Ter) GATA2:c.1042C>T (p.Arg348Ter) GATA2:c.1082G>A (p.Arg361His) GATA2:c.1040G>A (p.Arg347His) ERCC6L2:c.1333dup (p.Tyr445fs) ERCC6L2:c.1051_1054del (p.Ala351fs) ERCC6L2:c.1987C>T (p.Arg663Ter) ERCC6L2:c.3493-2A>G ERCC6L2:c.950+2T>G ERCC6L2:c.153dup (p.Ala52fs) LIG4:c.1703del (p.Lys568fs) LIG4:c.1904del (p.Lys635fs) LIG4:c.1940del (p.Lys647fs) SAMD9L:c.2956C>T SAMD9L:c.2956C>T (p.Arg986Cys) SLC37A4:c.80A>G (p.Asn27Ser) SLC37A4:c.-172+102A>G RUNX1:c.733C>T (p.Pro245Ser) RUNX1:c.652C>T (p.Pro218Ser) CTC1:c.833G>T CTC1:c.833G>T (p.Gly278Val) TINF2:c.*352G>C TINF2:c.1116+1G>C TINF2:c.1221+1G>C GATA2:c.423C>A (p.Tyr141Ter) GATA2:c.1079G>T (p.Trp360Leu) GATA2:c.1037G>T (p.Trp346Leu) DNAJC21:c.983+1G>A MECOM:c.2520C>G (p.Asn840Lys) MECOM:c.1326C>G (p.Asn442Lys) MECOM:c.2325C>G (p.Asn775Lys) MECOM:c.2889C>G (p.Asn963Lys) MECOM:c.2301C>G (p.Asn767Lys) MECOM:c.2298C>G (p.Asn766Lys) MECOM:c.2862C>G (p.Asn954Lys) MECOM:c.2328C>G (p.Asn776Lys) MECOM:c.2013+4A>T MECOM:c.2016+4A>T MECOM:c.2208+4A>T MECOM:c.2577+4A>T | nucleaotide-sequencing | A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood:2018 | ||||
XRCC2 gene RECQL4 gene RBBP8 gene PPM1D gene MCPH1 gene FANCM gene FANCE gene ERCC5 gene ERCC3 gene BARD1 gene PMS2 gene PTEN gene BRIP1 gene APC gene TP53 gene RAD51D gene ATM gene PALB2 gene BRCA2 gene BRCA1 gene | hereditary breast/ovarian cancer breast or ovarian cancer | 17 | CHEK2:c.917G>T CHEK2:c.1046G>T (p.Gly349Val) CHEK2:c.254G>T (p.Gly85Val) CHEK2:c.716G>T (p.Gly239Val) CHEK2:c.917G>T (p.Gly306Val) XPC:c.1001C>A (p.Pro334His) XPC:c.422C>A (p.Pro141His) XPC:c.983C>A (p.Pro328His) APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) XRCC2:c.643C>T XRCC2:c.643C>T (p.Arg215Ter) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G MSH6:c.4002-10T>A MSH6:c.3096-10T>A MSH6:c.3612-10T>A MLH1:c.251G>A (p.Arg84Gln) MLH1:c.-36-5238G>A MLH1:c.680G>A (p.Arg227Gln) MLH1:c.-50G>A MSH2:c.1045C>G MSH2:c.1045C>G (p.Pro349Ala) MSH2:c.847C>G (p.Pro283Ala) PMS2:c.416-2A>G PMS2:c.56-2A>G PMS2:c.584-2A>G PMS2:c.680-2A>G PMS2:c.671-2A>G PMS2:c.988+2016A>G PMS2:c.989-2A>G PALB2:c.3428T>A (p.Leu1143His) NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.2289T>A (p.Phe763Leu) ATM:c.2932T>C (p.Ser978Pro) ATM:c.610G>A (p.Gly204Arg) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C ATM:c.7475T>G (p.Leu2492Arg) ATM:c.641-21310A>C ATM:c.*38+4839A>C BLM:c.11T>C BLM:c.11T>C (p.Val4Ala) BLM:c.-1281T>C BLM:c.2333C>G BLM:c.2333C>G (p.Ser778Cys) BLM:c.1208C>G (p.Ser403Cys) FANCC:c.178G>A FANCC:c.178G>A (p.Val60Ile) MSH6:c.3235A>C (p.Ile1079Leu) MSH6:c.2845A>C (p.Ile949Leu) MSH6:c.2329A>C (p.Ile777Leu) PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G TP53:c.71G>A (p.Arg24His) TP53:c.350G>A (p.Arg117His) TP53:c.-11G>A NBN:c.456G>A (p.Met152Ile) NBN:c.210G>A (p.Met70Ile) CDH1:c.2644G>A CDH1:c.2461G>A (p.Asp821Asn) CDH1:c.1096G>A (p.Asp366Asn) CDH1:c.679G>A (p.Asp227Asn) CDH1:c.2644G>A (p.Asp882Asn) XRCC2:c.450C>G XRCC2:c.450C>G (p.Ser150Arg) RAD50:c.1094G>A RAD50:c.1094G>A (p.Arg365Gln) CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ERCC3:c.847C>T (p.Arg283Cys) ERCC3:c.655C>T (p.Arg219Cys) RAD50:c.3790C>T (p.Leu1264Phe) RAD50:c.3790C>T PALB2:c.101G>A (p.Arg34His) MSH6:c.4004A>C (p.Glu1335Ala) MSH6:c.3614A>C (p.Glu1205Ala) MSH6:c.3098A>C (p.Glu1033Ala) PALB2:c.2257C>T (p.Arg753Ter) MUTYH:c.1017dup (p.Arg340fs) MUTYH:c.1101dup (p.Arg368fs) MUTYH:c.1062dup (p.Arg355fs) MUTYH:c.1050dup (p.Arg351fs) MUTYH:c.741dup (p.Arg248fs) MUTYH:c.672dup (p.Arg225fs) MUTYH:c.1092dup (p.Arg365fs) CDH1:c.369C>G CDH1:c.369C>G (p.His123Gln) CDH1:c.-1247C>G CDH1:c.-1451C>G RAD51D:c.94_95del (p.Val32fs) FANCL:c.1141_1144dup (p.Thr382fs) FANCL:c.1096_1099dup (p.Thr367fs) FANCL:c.*102_*105dup FANCL:c.*487_*490dup APC:c.4449T>A (p.Ser1483Arg) APC:c.4425T>A (p.Ser1475Arg) APC:c.4320T>A (p.Ser1440Arg) APC:c.4311T>A (p.Ser1437Arg) APC:c.4272T>A (p.Ser1424Arg) APC:c.4218T>A (p.Ser1406Arg) APC:c.4122T>A (p.Ser1374Arg) APC:c.4092T>A (p.Ser1364Arg) APC:c.4017T>A (p.Ser1339Arg) APC:c.3915T>A (p.Ser1305Arg) APC:c.3546T>A (p.Ser1182Arg) BRIP1:c.1702_1703del (p.Asn568fs) CDH1:c.2590G>A CDH1:c.2407G>A (p.Glu803Lys) CDH1:c.1042G>A (p.Glu348Lys) CDH1:c.625G>A (p.Glu209Lys) CDH1:c.2590G>A (p.Glu864Lys) ATM:c.5278A>G (p.Met1760Val) TP53:c.191G>C (p.Arg64Pro) TP53:c.470G>C (p.Arg157Pro) TP53:c.110G>C (p.Arg37Pro) FANCA:c.2602-9_2602-8del FANCA:c.2602-13CT[2] POLE:c.1309G>A POLE:c.1309G>A (p.Val437Met) ERCC5:c.4180G>A (p.Val1394Met) ERCC5:c.2818G>A (p.Val940Met) ATM:c.4148C>T (p.Ser1383Leu) FANCL:c.1066_1067del (p.Ser356fs) FANCL:c.1096_1097del (p.Ser366fs) FANCL:c.1051_1052del (p.Ser351fs) APC:c.3575A>C (p.Asn1192Thr) APC:c.3566A>C (p.Asn1189Thr) APC:c.3527A>C (p.Asn1176Thr) APC:c.3473A>C (p.Asn1158Thr) APC:c.3377A>C (p.Asn1126Thr) APC:c.3347A>C (p.Asn1116Thr) APC:c.3272A>C (p.Asn1091Thr) APC:c.3170A>C (p.Asn1057Thr) APC:c.2801A>C (p.Asn934Thr) APC:c.3650A>C APC:c.6988C>T (p.Pro2330Ser) APC:c.6883C>T (p.Pro2295Ser) APC:c.6874C>T (p.Pro2292Ser) APC:c.6835C>T (p.Pro2279Ser) APC:c.6781C>T (p.Pro2261Ser) APC:c.6685C>T (p.Pro2229Ser) APC:c.6655C>T (p.Pro2219Ser) APC:c.6580C>T (p.Pro2194Ser) APC:c.6478C>T (p.Pro2160Ser) APC:c.6109C>T (p.Pro2037Ser) APC:c.6958C>T RECQL4:c.1868G>A (p.Arg623His) BAP1:c.1441C>A BAP1:c.1441C>A (p.His481Asn) ATM:c.3993+5G>T SLX4:c.832C>T SLX4:c.832C>T (p.Arg278Trp) CHEK2:c.1228T>G CHEK2:c.1357T>G (p.Cys453Gly) CHEK2:c.565T>G (p.Cys189Gly) CHEK2:c.1027T>G (p.Cys343Gly) CHEK2:c.1228T>G (p.Cys410Gly) CHEK2:c.1141T>G (p.Cys381Gly) PALB2:c.1675C>T (p.Gln559Ter) RECQL4:c.2272C>T (p.Arg758Ter) RET:c.432G>A (p.Ala144=) RET:c.168G>A (p.Ala56=) RET:c.1158G>A (p.Ala386=) RET:c.1158G>A (p.Ala386_Gly387=) RECQL4:c.2636dup (p.Gln880fs) RECQL4:c.1238C>G RECQL4:c.1238C>G (p.Ala413Gly) CDH1:c.2558C>T CDH1:c.2375C>T (p.Ser792Leu) CDH1:c.1010C>T (p.Ser337Leu) CDH1:c.593C>T (p.Ser198Leu) CDH1:c.2558C>T (p.Ser853Leu) ERCC3:c.1757delA ERCC3:c.1757del (p.Gln586fs) ERCC3:c.1565del (p.Gln522fs) POLE:c.2090C>G POLE:c.2090C>G (p.Pro697Arg) RECQL4:c.3055+5G>A POLD1:c.2429C>T POLD1:c.2429C>T (p.Ala810Val) POLD1:c.2507C>T (p.Ala836Val) FANCD2:c.2273G>C FANCD2:c.2273G>C (p.Cys758Ser) FANCD2:c.2162G>C (p.Cys721Ser) ATM:c.7462T>C (p.Cys2488Arg) ATM:c.641-21297A>G ATM:c.*38+4852A>G CDKN2A:c.197A>C (p.His66Pro) CDKN2A:c.44A>C (p.His15Pro) CDKN2A:c.240A>C (p.Pro80=) CDKN2A:c.*120A>C MLH1:c.173G>A (p.Ser58Asn) MLH1:c.896G>A (p.Ser299Asn) MLH1:c.602G>A (p.Ser201Asn) MLH1:c.-128G>A BAP1:c.1553G>A BAP1:c.1553G>A (p.Arg518Gln) SDHAF2:c.139A>G (p.Met47Val) PALB2:c.2989G>T (p.Asp997Tyr) ATM:c.4432C>T (p.Gln1478Ter) NF2:c.1252C>T (p.Arg418Cys) NF2:c.1126C>T (p.Arg376Cys) NF2:c.1129C>T (p.Arg377Cys) NF2:c.1003C>T (p.Arg335Cys) NF2:c.448-21354C>T STK11:c.662C>T (p.Pro221Leu) RECQL4:c.1237G>A RECQL4:c.1237G>A (p.Ala413Thr) ERCC3:c.2087T>G ERCC3:c.2087T>G (p.Met696Arg) ERCC3:c.1895T>G (p.Met632Arg) BIVM-ERCC5;ERCC5:c.4916A>C BIVM-ERCC5;ERCC5:c.4916A>C (p.Lys1639Thr) BIVM-ERCC5;ERCC5:c.3554A>C (p.Lys1185Thr) BIVM-ERCC5;ERCC5:c.3554A>C RAD51C:c.489T>G (p.Ser163Arg) RECQL4:c.1211del (p.Phe404fs) RAD51C:c.13A>T (p.Thr5Ser) BARD1:c.580_581delAG BARD1:c.580_581del (p.Arg194fs) BARD1:c.523_524del (p.Arg175fs) BARD1:c.158+28118_158+28119del BARD1:c.215+15767_215+15768del BARD1:c.364+11003_364+11004del NBN:c.37+5G>A NBN:c.-260+5G>A ATM:c.95G>A (p.Arg32His) BRCA1:c.2105dup (p.Leu702PhefsTer10) BRCA1:c.1964dup (p.Leu655PhefsTer10) BRCA1:c.787+1318dup (n.787+1318dup) BRCA1:c.2194delinsAA (p.Glu732LysfsTer8) BRCA1:c.2053delinsAA (p.Glu685LysfsTer8) BRCA1:c.787+1407delinsAA (n.787+1407delinsAA) BRCA2:c.4030_4034del (p.Asn1344TyrfsTer6) | nucleaotide-sequencing | Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. Journal of cancer research and clinical oncology:2018 | |||||
CHEK2 gene | Malignant neoplasm of prostate | 703 | c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.1254delT CHEK2:c.1383del (p.Phe461fs) CHEK2:c.591del (p.Phe197fs) CHEK2:c.1053del (p.Phe351fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1167del (p.Phe389fs) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. The Prostate:2018 | |||||
FANCM gene RAD51D gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | c.556C>T c.5791C>T p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.7007G>C (p.Arg2336Pro) FANCM:c.5791C>T FANCM:c.5713C>T (p.Arg1905Ter) FANCM:c.5791C>T (p.Arg1931Ter) RAD51D:c.556C>T (p.Arg186Ter) RAD51D:c.616C>T (p.Arg206Ter) RAD51D:c.220C>T (p.Arg74Ter) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA2:c.5791C>T (p.Gln1931Ter) BRCA1:c.391C>T (p.His131Tyr) BRCA1:c.682C>T (p.His228Tyr) BRCA1:c.685C>T (p.His229Tyr) BRCA1:c.4204C>T (p.His1402Tyr) BRCA1:c.4063C>T (p.His1355Tyr) BRCA1:c.895C>T (p.His299Tyr) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | nucleaotide-sequencing | Mutational analysis of candidate genes in Israeli male breast cancer cases. Breast cancer research and treatment:2018 | |||||
KDM3B gene DICER1 gene TP53 gene | Weaver syndrome Coffin-Siris syndrome Rubinstein-Taybi Syndrome Intellectual Disability winter syndrome | 146 | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) DICER1:c.5126A>G (p.Asp1709Gly) DICER1:c.5427_5428delinsTT (p.Asp1810Tyr) DICER1:c.5365-194_5365-193delinsTT DICER1:c.5427_5428delinsTT DICER1:c.5113G>A (p.Glu1705Lys) DICER1:c.5113G>A DICER1:c.2414T>C (p.Leu805Pro) DICER1:c.2414T>C KDM3B:c.277G>T KDM3B:c.277G>T (p.Glu93Ter) DICER1:c.5127T>G DICER1:c.5127T>G (p.Asp1709Glu) KDM3B:c.3095A>T KDM3B:c.3095A>T (p.Asp1032Val) DICER1:c.1363delG DICER1:c.1363del (p.Val455fs) BAP1:c.2116A>G (p.Ile706Val) | nucleaotide-sequencing | High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research:2018 | |||||
CHEK2 gene | Breast Carcinoma | 19 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C BRCA2:c.8290G>A (p.Ala2764Thr) | nucleaotide-sequencing microarray | Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer. International journal of cancer:2020 | ||||
CHEK2 gene ATM gene | Breast Carcinoma radiation therapy | 708 | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Radiation Treatment, ATM, BRCA1/2, and CHEK2*1100delC Pathogenic Variants and Risk of Contralateral Breast Cancer. Journal of the National Cancer Institute:2020 | |||||
CHEK2 gene NBN gene PALB2 gene ATM gene BRCA2 gene | Ductal Breast Carcinoma Breast Carcinoma | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | High risk of breast cancer in women with biallelic pathogenic variants in CHEK2. Breast cancer research and treatment:2020 | |||||||
CHEK2 gene | Malignant neoplasm of testis | p.Ile157Thr c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. Familial cancer:2021 | ||||||
CHEK2 gene | Carcinoma of bladder Malignant neoplasm of kidney stage t1 disease stage ta bladder cancer t1 disease t1 bladder cancer bladder or kidney cancer | 1016 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Survival of bladder or renal cancer in patients with CHEK2 mutations. PloS one:2021 | ||||
CHEK2 gene | Breast Carcinoma | 26 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | premature stop | Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry. Cancers:2021 | ||||
CHEK2 gene | Breast Carcinoma | 28 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients. Scientific reports:2021 | ||||
SERPINB3 gene CHEK2 gene | Squamous cell carcinoma of skin Cutaneous Melanoma melanoma Malignant neoplasm of skin Breast Carcinoma basal cell carcinomas melanoma skin cancers | c.*1100delC | CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C | Skin cancer risk in CHEK2 mutation carriers. Journal of the European Academy of Dermatology and Venereology : JEADV:2021 | ||||||
CHEK2 gene PALB2 gene | Breast Carcinoma breast nonmucinous ovarian cancer breast and ovarian cancer | 35 | c._1100delC c.1100delC | PALB2:c.3549C>G (p.Tyr1183Ter) PALB2:c.196C>T (p.Gln66Ter) PALB2:c.2982dup (p.Ala995fs) PALB2:c.3116del (p.Asn1039fs) PALB2:c.786del (p.Glu263fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics:2021 | |||||
PALB2 gene CHEK2 gene | Malignant neoplasm of ovary Breast Carcinoma breast and/or ovarian cancer | 95 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients. Human heredity:2022 | ||||
BRCA2 gene CHEK2 gene BRCA1 gene | Breast Carcinoma | c.1100delC p.Ile157Thr p.Arg95Ter p.Arg145Trp c.444+1G>A | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.-495C>T (n.-495C>T) CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) | microarray nucleaotide-sequencing | Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review. European journal of medical genetics:2022 | |||||
FOXL2 gene CHEK2 gene | Malignant neoplasm of ovary Thyroid carcinoma granulosa cell tumors | 93 | p.Cys134Trp p.Ile157Thr c.1100delC | FOXL2:c.402C>G (p.Cys134Trp) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors. Cancers:2022 | |||||
FANCM gene BRIP1 gene RAD51D gene RAD51C gene BARD1 gene ATM gene CHEK2 gene PALB2 gene BRCA2 gene BRCA1 gene | breast and ovarian cancer | c.1100delC c.1592delT | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1478delT (p.His494Metfs) BRCA1:c.1715delT (p.His573Metfs) BRCA1:c.1355delT (p.His453Metfs) BRCA1:c.971delT (p.His325Metfs) BRCA1:c.1859delT (p.His621Metfs) BRCA1:c.1860del (p.His621fs) BRCA1:c.1719del (p.His574fs) BRCA1:c.787+1073del | nucleaotide-sequencing | Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients. Cancers:2022 | |||||
CHEK2 gene | Malignant neoplasm of prostate node involvement | 150 | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer. Genes:2022 | |||||
CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Ductal Breast Carcinoma Breast Carcinoma | 379 | c.1100delC | BRCA2:c.7988A>T (p.Glu2663Val) BRCA1:c.5152+4A>G BRCA1:c.5011+4A>G BRCA1:c.1840+4A>G BRCA1:c.5215+4A>G TP53:c.436C>T (p.Pro146Ser) TP53:c.715C>T (p.Pro239Ser) TP53:c.355C>T (p.Pro119Ser) TP53:c.876+1G>A TP53:c.993+1G>A TP53:c.516+1G>A TP53:c.597+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. Journal of medical genetics:2022 | ||||
PALB2 gene CHEK2 gene BRCA2 gene BRCA1 gene ATM gene | Breast Carcinoma | c.1100delC | CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Penetrance of male breast cancer susceptibility genes: a systematic review. Breast cancer research and treatment:2022 | ||||||
CYP1A1 gene NLRP2 gene NOD2 gene NBN gene MLH1 gene HOXB13 gene CYP1B1 gene CHEK2 gene BRCA2 gene BRCA1 gene | Malignant neoplasm of prostate | 110 | c.3020insC p.Ile171Val c.IVS2+1G>A c.1100delC p.Gly84Glu | NBN:c.511A>G (p.Ile171Val) NBN:c.265A>G (p.Ile89Val) HOXB13:c.251G>A (p.Gly84Glu) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | sanger sequencing | premature stop | Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men. Cancer control : journal of the Moffitt Cancer Center:2022 | |||
MUTYH gene APC gene CHEK2 gene | Colorectal Carcinoma | heterozygous | c.1100delC p.Ile1307Lys c.3920T>A p.Ile157Thr c.470T>C p.Thr367fs | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) APC:c.3974_3977del (p.Ile1325LysfsTer13) APC:c.3950_3953del (p.Ile1317LysfsTer13) APC:c.3845_3848del (p.Ile1282LysfsTer13) APC:c.3836_3839del (p.Ile1279LysfsTer13) APC:c.3797_3800del (p.Ile1266LysfsTer13) APC:c.3743_3746del (p.Ile1248LysfsTer13) APC:c.3647_3650del (p.Ile1216LysfsTer13) APC:c.3617_3620del (p.Ile1206LysfsTer13) APC:c.3542_3545del (p.Ile1181LysfsTer13) APC:c.3440_3443del (p.Ile1147LysfsTer13) APC:c.3071_3074del (p.Ile1024LysfsTer13) APC:c.3920T>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) | An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genetics in medicine : official journal of the American College of Medical Genetics:2022 | |||||
CHEK2 gene | Breast Carcinoma | 14 | homozygous | p.Asp438Tyr c.1100delC | CHEK2:c.1312G>T CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | high resolution melting | Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition. Familial cancer:2023 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|
CHEK2 gene MUTYH gene BRCA1 gene | breast and colon cancers bilateral breast cancer cancer | p.Thr476Met c.1427C>T p.Pro295Leu c.884C>T | CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.803C>T (p.Pro268Leu) MUTYH:c.842C>T (p.Ala281Val) MUTYH:c.839C>T (p.Ala280Val) MUTYH:c.884C>T (p.Ala295Val) MUTYH:c.872C>T (p.Ala291Val) MUTYH:c.563C>T (p.Ala188Val) MUTYH:c.494C>T (p.Ala165Val) MUTYH:c.914C>T (p.Ala305Val) BRCA1:c.1430C>T (p.Ala477Val) BRCA1:c.1238C>T (p.Ala413Val) BRCA1:c.1235C>T (p.Ala412Val) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) BRCA1:c.1259C>T (p.Ser420Phe) BRCA1:c.1139C>T (p.Ser380Phe) BRCA1:c.1112C>T (p.Ser371Phe) BRCA1:c.4952C>T (p.Ser1651Phe) BRCA1:c.4811C>T (p.Ser1604Phe) BRCA1:c.1640C>T (p.Ser547Phe) BRCA1:c.5015C>T (p.Ser1672Phe) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) BRCA1:c.4739C>T (p.Ser1580Phe) BRCA1:c.4598C>T (p.Ser1533Phe) BRCA1:c.1427C>T (p.Ser476Phe) BRCA1:c.4802C>T (p.Ser1601Phe) BRCA1:c.1200delC (p.Pro401Leufs) BRCA1:c.1197delC (p.Pro400Leufs) BRCA1:c.1173delC (p.Pro392Leufs) BRCA1:c.1167delC (p.Pro390Leufs) BRCA1:c.1149delC (p.Pro384Leufs) | nucleaotide-sequencing | Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family. Cancer genetics:2022 | ||
TP53 gene MDM2 gene CHEK2 gene | liposarcoma Breast Carcinoma retroperitoneal dedifferentiated liposarcoma sarcoma | 61(year) | female | CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T | Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation. Virchows Archiv : an international journal of pathology:2014 |
Gene | Symptoms or Disease | Total Cases | Number of families | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 516 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.1022A>C CHEK2:c.1151A>C (p.Asn384Thr) CHEK2:c.359A>C (p.Asn120Thr) CHEK2:c.821A>C (p.Asn274Thr) CHEK2:c.1022A>C (p.Asn341Thr) CHEK2:c.1009-1101A>C | splice site mutation | Limited relevance of the CHEK2 gene in hereditary breast cancer. International journal of cancer:2004 | ||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 1303 | CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.1166G>T (p.Arg389Leu) CHEK2:c.374G>T (p.Arg125Leu) CHEK2:c.836G>T (p.Arg279Leu) CHEK2:c.1037G>T (p.Arg346Leu) CHEK2:c.1009-1086G>T CHEK2:c.1037G>T CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.405delA CHEK2:c.534del (p.Lys178fs) CHEK2:c.-373del CHEK2:c.405del (p.Lys135fs) CHEK2:c.1528C>T CHEK2:c.1657C>T (p.Gln553Ter) CHEK2:c.865C>T (p.Gln289Ter) CHEK2:c.1327C>T (p.Gln443Ter) CHEK2:c.1528C>T (p.Gln510Ter) CHEK2:c.1441C>T (p.Gln481Ter) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | premature stop | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast cancer research : BCR:2011 | |||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||
PALB2 gene ATM gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma breast/ovarian cancer lynch syndrome breast/ovarian breast or ovarian cancer ovarian | 2158 | APC:c.4387A>G (p.Thr1463Ala) APC:c.4363A>G (p.Thr1455Ala) APC:c.4258A>G (p.Thr1420Ala) APC:c.4249A>G (p.Thr1417Ala) APC:c.4210A>G (p.Thr1404Ala) APC:c.4156A>G (p.Thr1386Ala) APC:c.4060A>G (p.Thr1354Ala) APC:c.4030A>G (p.Thr1344Ala) APC:c.3955A>G (p.Thr1319Ala) APC:c.3853A>G (p.Thr1285Ala) APC:c.3484A>G (p.Thr1162Ala) APC:c.5194G>A (p.Asp1732Asn) APC:c.5170G>A (p.Asp1724Asn) APC:c.5065G>A (p.Asp1689Asn) APC:c.5056G>A (p.Asp1686Asn) APC:c.5017G>A (p.Asp1673Asn) APC:c.4963G>A (p.Asp1655Asn) APC:c.4867G>A (p.Asp1623Asn) APC:c.4837G>A (p.Asp1613Asn) APC:c.4762G>A (p.Asp1588Asn) APC:c.4660G>A (p.Asp1554Asn) APC:c.4291G>A (p.Asp1431Asn) ATM:c.6315G>C (p.Arg2105Ser) ATM:c.641-8418C>G ATM:c.*39-8418C>G CDK4:c.122A>G CDK4:c.122A>G (p.Asn41Ser) CDK4:c.625C>T CDK4:c.625C>T (p.Arg209Cys) MSH2:c.835C>G MSH2:c.835C>G (p.Leu279Val) MSH2:c.637C>G (p.Leu213Val) STK11:c.1225C>T (p.Arg409Trp) SMAD4:c.575C>T (p.Thr192Ile) PALB2:c.2289G>C (p.Leu763Phe) RAD51C:c.146-8A>G NBN:c.1124+6G>T NBN:c.878+6G>T RAD51D:c.904-3C>T RAD51D:c.568-3C>T RAD51D:c.964-3C>T STK11:c.465-18G>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CDH1:c.521dupA CDH1:c.521dup (p.Asn174fs) CDH1:c.-1095dup CDH1:c.-1299dup ATM:c.6997dup (p.Thr2333Asnfs) ATM:c.6997dup (p.Thr2333fs) ATM:c.641-18595dup ATM:c.*38+7554dup BRIP1:c.3149C>A (p.Thr1050Asn) ATM:c.133C>T (p.Arg45Trp) ATM:c.2149C>T (p.Arg717Trp) APC:c.6872G>T (p.Gly2291Val) APC:c.6848G>T (p.Gly2283Val) APC:c.6743G>T (p.Gly2248Val) APC:c.6734G>T (p.Gly2245Val) APC:c.6695G>T (p.Gly2232Val) APC:c.6641G>T (p.Gly2214Val) APC:c.6545G>T (p.Gly2182Val) APC:c.6515G>T (p.Gly2172Val) APC:c.6440G>T (p.Gly2147Val) APC:c.6338G>T (p.Gly2113Val) APC:c.5969G>T (p.Gly1990Val) ATM:c.749G>A (p.Arg250Gln) ATM:c.1703G>T (p.Arg568Ile) CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.1141A>G CHEK2:c.1270A>G (p.Met424Val) CHEK2:c.478A>G (p.Met160Val) CHEK2:c.940A>G (p.Met314Val) CHEK2:c.1141A>G (p.Met381Val) CHEK2:c.1054A>G (p.Met352Val) APC:c.4126G>A (p.Ala1376Thr) APC:c.4102G>A (p.Ala1368Thr) APC:c.3997G>A (p.Ala1333Thr) APC:c.3988G>A (p.Ala1330Thr) APC:c.3949G>A (p.Ala1317Thr) APC:c.3895G>A (p.Ala1299Thr) APC:c.3799G>A (p.Ala1267Thr) APC:c.3769G>A (p.Ala1257Thr) APC:c.3694G>A (p.Ala1232Thr) APC:c.3592G>A (p.Ala1198Thr) APC:c.3223G>A (p.Ala1075Thr) CDKN2A:c.-2G>A CDKN2A:c.-3-3621G>A CDKN2A:c.194-3621G>A CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G ATM:c.5712dup (p.Ser1905fs) ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T MUTYH:c.1333G>A (p.Ala445Thr) MUTYH:c.1417G>A (p.Ala473Thr) MUTYH:c.1378G>A (p.Ala460Thr) MUTYH:c.1366G>A (p.Ala456Thr) MUTYH:c.1057G>A (p.Ala353Thr) MUTYH:c.988G>A (p.Ala330Thr) MUTYH:c.1408G>A (p.Ala470Thr) PMS2:c.1663A>C (p.Lys555Gln) PMS2:c.1912A>C (p.Lys638Gln) PMS2:c.1750A>C (p.Lys584Gln) PMS2:c.1507A>C (p.Lys503Gln) PMS2:c.1135A>C (p.Lys379Gln) PMS2:c.1495A>C (p.Lys499Gln) PMS2:c.2068A>C (p.Lys690Gln) PMS2:c.1759A>C (p.Lys587Gln) ATM:c.2354G>A (p.Arg785His) CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C TP53:c.683G>C (p.Gly228Ala) TP53:c.*186G>C TP53:c.*98G>C TP53:c.962G>C (p.Gly321Ala) TP53:c.602G>C (p.Gly201Ala) APC:c.2530T>G (p.Leu844Val) APC:c.2506T>G (p.Leu836Val) APC:c.2401T>G (p.Leu801Val) APC:c.2392T>G (p.Leu798Val) APC:c.2353T>G (p.Leu785Val) APC:c.2299T>G (p.Leu767Val) APC:c.2203T>G (p.Leu735Val) APC:c.2173T>G (p.Leu725Val) APC:c.2098T>G (p.Leu700Val) APC:c.1996T>G (p.Leu666Val) APC:c.1627T>G (p.Leu543Val) ATM:c.361T>A (p.Leu121Ile) PMS2:c.964G>A (p.Val322Ile) PMS2:c.646G>A (p.Val216Ile) PMS2:c.559G>A (p.Val187Ile) PMS2:c.31G>A (p.Val11Ile) PMS2:c.391G>A (p.Val131Ile) PMS2:c.655G>A (p.Val219Ile) PMS2:c.964G>A RAD51D:c.620C>T (p.Ser207Leu) RAD51D:c.680C>T (p.Ser227Leu) RAD51D:c.284C>T (p.Ser95Leu) ATM:c.5645G>A (p.Arg1882Gln) BARD1:c.2252G>A BARD1:c.2252G>A (p.Arg751Gln) BARD1:c.2195G>A (p.Arg732Gln) BARD1:c.899G>A (p.Arg300Gln) BARD1:c.842G>A (p.Arg281Gln) BARD1:c.713G>A (p.Arg238Gln) ATM:c.2414G>A (p.Arg805Gln) ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A BARD1:c.346C>T BARD1:c.346C>T (p.His116Tyr) BARD1:c.289C>T (p.His97Tyr) BARD1:c.158+17097C>T BARD1:c.215+4746C>T BARD1:c.568G>A BARD1:c.568G>A (p.Asp190Asn) BARD1:c.511G>A (p.Asp171Asn) BARD1:c.158+28106G>A BARD1:c.215+15755G>A BARD1:c.364+10991G>A CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T ATM:c.3154-4G>A CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) TP53:c.146G>A (p.Arg49His) TP53:c.425G>A (p.Arg142His) TP53:c.65G>A (p.Arg22His) PTEN:c.210-12_210-8delCTTTT PTEN:c.730-7_730-3del PTEN:c.210-7_210-3del PTEN:c.-541-7_-541-3del PALB2:c.2257C>T (p.Arg753Ter) PMS2:c.1951C>A (p.Leu651Met) PMS2:c.2200C>A (p.Leu734Met) PMS2:c.2038C>A (p.Leu680Met) PMS2:c.1984C>A (p.Leu662Met) PMS2:c.1795C>A (p.Leu599Met) PMS2:c.1423C>A (p.Leu475Met) PMS2:c.1783C>A (p.Leu595Met) PMS2:c.2389C>A (p.Leu797Met) PMS2:c.2047C>A (p.Leu683Met) PMS2:c.2356C>A CHEK2:c.1489G>A CHEK2:c.1618G>A (p.Asp540Asn) CHEK2:c.826G>A (p.Asp276Asn) CHEK2:c.1288G>A (p.Asp430Asn) CHEK2:c.1489G>A (p.Asp497Asn) CHEK2:c.1402G>A (p.Asp468Asn) APC:c.6733G>T (p.Gly2245Cys) APC:c.6709G>T (p.Gly2237Cys) APC:c.6604G>T (p.Gly2202Cys) APC:c.6595G>T (p.Gly2199Cys) APC:c.6556G>T (p.Gly2186Cys) APC:c.6502G>T (p.Gly2168Cys) APC:c.6406G>T (p.Gly2136Cys) APC:c.6376G>T (p.Gly2126Cys) APC:c.6301G>T (p.Gly2101Cys) APC:c.6199G>T (p.Gly2067Cys) APC:c.5830G>T (p.Gly1944Cys) MSH6:c.2827G>T (p.Asp943Tyr) MSH6:c.2437G>T (p.Asp813Tyr) MSH6:c.1921G>T (p.Asp641Tyr) MSH6:c.2027A>G (p.Lys676Arg) MSH6:c.1637A>G (p.Lys546Arg) MSH6:c.1121A>G (p.Lys374Arg) PALB2:c.3296C>G (p.Thr1099Arg) NBN:c.1520A>G (p.His507Arg) NBN:c.1274A>G (p.His425Arg) ATM:c.670A>G (p.Lys224Glu) CDH1:c.394G>A CDH1:c.394G>A (p.Val132Ile) CDH1:c.-1222G>A CDH1:c.-1426G>A PMS2:c.472A>G (p.Asn158Asp) PMS2:c.877A>G (p.Asn293Asp) PMS2:c.559A>G (p.Asn187Asp) PMS2:c.-57A>G PMS2:c.304A>G (p.Asn102Asp) PMS2:c.568A>G (p.Asn190Asp) BMPR1A:c.760C>T (p.Arg254Cys) PMS2:c.2154C>G (p.Ile718Met) PMS2:c.2403C>G (p.Ile801Met) PMS2:c.2241C>G (p.Ile747Met) PMS2:c.2187C>G (p.Ile729Met) PMS2:c.1998C>G (p.Ile666Met) PMS2:c.1626C>G (p.Ile542Met) PMS2:c.1986C>G (p.Ile662Met) PMS2:c.2592C>G (p.Ile864Met) PMS2:c.2250C>G (p.Ile750Met) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A RAD51C:c.431T>C RAD51C:c.431T>C (p.Ile144Thr) PMS2:c.936G>A (p.Met312Ile) PMS2:c.618G>A (p.Met206Ile) PMS2:c.531G>A (p.Met177Ile) PMS2:c.3G>A (p.Met1Ile) PMS2:c.363G>A (p.Met121Ile) PMS2:c.627G>A (p.Met209Ile) PMS2:c.936G>A MSH6:c.2555AGA[2] (p.Lys854del) MSH6:c.2165AGA[2] (p.Lys724del) MSH6:c.1649AGA[2] (p.Lys552del) BRIP1:c.550G>T (p.Asp184Tyr) MSH6:c.161G>C (p.Gly54Ala) MSH6:c.-576G>C MSH2:c.126C>G MSH2:c.126C>G (p.Phe42Leu) MSH2:c.-30-43C>G MSH2:c.1813G>A (p.Val605Ile) MSH2:c.1813G>A MSH2:c.1615G>A (p.Val539Ile) MSH6:c.831A>C (p.Glu277Asp) MSH6:c.441A>C (p.Glu147Asp) MSH6:c.-76A>C MSH6:c.1844G>C (p.Cys615Ser) MSH6:c.1454G>C (p.Cys485Ser) MSH6:c.938G>C (p.Cys313Ser) CDKN2A:c.365G>T CDKN2A:c.365G>T (p.Gly122Val) CDKN2A:c.212G>T (p.Gly71Val) CDKN2A:c.*9G>T CDKN2A:c.*288G>T ATM:c.283C>A (p.Gln95Lys) ATM:c.6025T>C (p.Tyr2009His) ATM:c.641-6770A>G ATM:c.*39-6770A>G ATM:c.6348-8T>C ATM:c.641-10875A>G ATM:c.*39-10875A>G ATM:c.7552C>T (p.Pro2518Ser) ATM:c.641-22409G>A ATM:c.*38+3740G>A ATM:c.*1357G>A BRCA2:c.517G>C (p.Gly173Arg) PALB2:c.1492G>T (p.Asp498Tyr) BRIP1:c.3196del (p.Ser1066fs) TP53:c.*257A>G TP53:c.*169A>G TP53:c.1033A>G (p.Met345Val) TP53:c.673A>G (p.Met225Val) TP53:c.1150A>G STK11:c.1148G>A (p.Arg383His) CHEK2:c.1513T>A CHEK2:c.1642T>A (p.Ser548Thr) CHEK2:c.850T>A (p.Ser284Thr) CHEK2:c.1312T>A (p.Ser438Thr) CHEK2:c.1513T>A (p.Ser505Thr) CHEK2:c.1426T>A (p.Ser476Thr) MUTYH:c.1392+2C>T MUTYH:c.1437+2C>T MUTYH:c.1467+2C>T MUTYH:c.1476+2C>T MUTYH:c.1116+2C>T MUTYH:c.1395+2C>T MUTYH:c.1425+2C>T MUTYH:c.1434+2C>T MUTYH:c.206G>A (p.Arg69Gln) MUTYH:c.290G>A (p.Arg97Gln) MUTYH:c.251G>A (p.Arg84Gln) MUTYH:c.239G>A (p.Arg80Gln) MUTYH:c.-71G>A MUTYH:c.-66G>A MUTYH:c.281G>A (p.Arg94Gln) BARD1:c.632T>C BARD1:c.632T>C (p.Leu211Ser) BARD1:c.575T>C (p.Leu192Ser) BARD1:c.158+28170T>C BARD1:c.215+15819T>C BARD1:c.364+11055T>C BARD1:c.298C>T BARD1:c.298C>T (p.Gln100Ter) BARD1:c.241C>T (p.Gln81Ter) BARD1:c.158+17049C>T BARD1:c.215+4698C>T MSH2:c.2354A>C (p.His785Pro) MSH2:c.2354A>C MSH2:c.2156A>C (p.His719Pro) APC:c.2537C>T (p.Thr846Ile) APC:c.2513C>T (p.Thr838Ile) APC:c.2408C>T (p.Thr803Ile) APC:c.2399C>T (p.Thr800Ile) APC:c.2360C>T (p.Thr787Ile) APC:c.2306C>T (p.Thr769Ile) APC:c.2210C>T (p.Thr737Ile) APC:c.2180C>T (p.Thr727Ile) APC:c.2105C>T (p.Thr702Ile) APC:c.2003C>T (p.Thr668Ile) APC:c.1634C>T (p.Thr545Ile) APC:c.7456T>C (p.Ser2486Pro) APC:c.7432T>C (p.Ser2478Pro) APC:c.7327T>C (p.Ser2443Pro) APC:c.7318T>C (p.Ser2440Pro) APC:c.7279T>C (p.Ser2427Pro) APC:c.7225T>C (p.Ser2409Pro) APC:c.7129T>C (p.Ser2377Pro) APC:c.7099T>C (p.Ser2367Pro) APC:c.7024T>C (p.Ser2342Pro) APC:c.6922T>C (p.Ser2308Pro) APC:c.6553T>C (p.Ser2185Pro) PMS2:c.1312A>T (p.Thr438Ser) PMS2:c.1561A>T (p.Thr521Ser) PMS2:c.1399A>T (p.Thr467Ser) PMS2:c.1156A>T (p.Thr386Ser) PMS2:c.784A>T (p.Thr262Ser) PMS2:c.1144A>T (p.Thr382Ser) PMS2:c.1717A>T (p.Thr573Ser) PMS2:c.1408A>T (p.Thr470Ser) PMS2:c.1559C>T (p.Ala520Val) PMS2:c.1397C>T (p.Ala466Val) PMS2:c.1310C>T (p.Ala437Val) PMS2:c.1154C>T (p.Ala385Val) PMS2:c.782C>T (p.Ala261Val) PMS2:c.1142C>T (p.Ala381Val) PMS2:c.1715C>T (p.Ala572Val) PMS2:c.1406C>T (p.Ala469Val) PMS2:c.1715C>T PMS2:c.621A>C (p.Gln207His) PMS2:c.708A>C (p.Gln236His) PMS2:c.93A>C (p.Gln31His) PMS2:c.453A>C (p.Gln151His) PMS2:c.1026A>C (p.Gln342His) PMS2:c.717A>C (p.Gln239His) PMS2:c.583+2055A>C PMS2:c.988+2055A>C ATM:c.131A>G (p.Asp44Gly) ATM:c.1271C>A (p.Pro424His) ATM:c.2615C>T (p.Pro872Leu) MLH1:c.437G>A (p.Arg146Gln) MLH1:c.386G>A (p.Arg129Gln) MLH1:c.1460G>A (p.Arg487Gln) MLH1:c.1361G>A (p.Arg454Gln) ATM:c.4210A>G (p.Ile1404Val) ATM:c.4445G>A (p.Cys1482Tyr) ATM:c.6537T>G (p.Ile2179Met) ATM:c.641-12314A>C ATM:c.*39-12314A>C BRCA2:c.620C>T (p.Thr207Ile) BRCA2:c.8118T>C (p.Asn2706=) BRCA2:c.9209C>T (p.Ser3070Phe) CDH1:c.1171G>A CDH1:c.-445G>A CDH1:c.-649G>A CDH1:c.1171G>A (p.Val391Ile) CDH1:c.1137+1083G>A STK11:c.116G>T (p.Arg39Leu) CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.551A>C (p.Lys184Thr) CHEK2:c.-356A>C CHEK2:c.422A>C (p.Lys141Thr) CHEK2:c.422A>C BMPR1A:c.499A>G (p.Met167Val) CDH1:c.1793G>A CDH1:c.1610G>A (p.Arg537Gln) CDH1:c.245G>A (p.Arg82Gln) CDH1:c.-173G>A CDH1:c.1793G>A (p.Arg598Gln) MSH2:c.2533A>G (p.Lys845Glu) MSH2:c.2533A>G MSH2:c.2335A>G (p.Lys779Glu) BRCA2:c.9573G>A (p.Trp3191Ter) APC:c.1660G>A (p.Glu554Lys) APC:c.1636G>A (p.Glu546Lys) APC:c.1531G>A (p.Glu511Lys) APC:c.1522G>A (p.Glu508Lys) APC:c.1483G>A (p.Glu495Lys) APC:c.1429G>A (p.Glu477Lys) APC:c.1333G>A (p.Glu445Lys) APC:c.1303G>A (p.Glu435Lys) APC:c.1228G>A (p.Glu410Lys) APC:c.1126G>A (p.Glu376Lys) APC:c.757G>A (p.Glu253Lys) BMPR1A:c.1235T>C (p.Val412Ala) PALB2:c.3473A>G (p.His1158Arg) CHEK2:c.846+4_846+7delAGTA CHEK2:c.846+4_846+7del CHEK2:c.645+4_645+7del CHEK2:c.183+4_183+7del CHEK2:c.975+4_975+7del CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T MSH2:c.842C>G (p.Ser281Ter) MSH2:c.644C>G (p.Ser215Ter) MSH2:c.842C>G ATM:c.7291A>G (p.Lys2431Glu) ATM:c.641-20151T>C ATM:c.*38+5998T>C ATM:c.8393C>A (p.Ala2798Asp) ATM:c.641-34275G>T ATM:c.695-8054G>T MUTYH:c.391C>A (p.Leu131Met) MUTYH:c.475C>A (p.Leu159Met) MUTYH:c.436C>A (p.Leu146Met) MUTYH:c.424C>A (p.Leu142Met) MUTYH:c.115C>A (p.Leu39Met) MUTYH:c.46C>A (p.Leu16Met) MUTYH:c.466C>A (p.Leu156Met) BARD1:c.556A>G BARD1:c.556A>G (p.Ser186Gly) BARD1:c.499A>G (p.Ser167Gly) BARD1:c.158+28094A>G BARD1:c.215+15743A>G BARD1:c.364+10979A>G MLH1:c.-143T>G MLH1:c.287T>G (p.Val96Gly) MLH1:c.-236T>G MLH1:c.-349T>G NBN:c.2070+4G>A NBN:c.1824+4G>A ATM:c.175G>T (p.Ala59Ser) ATM:c.8915A>G (p.Gln2972Arg) ATM:c.640+20774T>C ATM:c.694+20774T>C BRCA2:c.3900G>A (p.Met1300Ile) PALB2:c.1847A>G (p.Asp616Gly) PALB2:c.658del (p.Ser220fs) BRCA1:c.122A>T (p.His41Leu) CHEK2:c.1259G>A CHEK2:c.1388G>A (p.Cys463Tyr) CHEK2:c.596G>A (p.Cys199Tyr) CHEK2:c.1058G>A (p.Cys353Tyr) CHEK2:c.1259G>A (p.Cys420Tyr) CHEK2:c.1172G>A (p.Cys391Tyr) MSH2:c.755A>G (p.Gln252Arg) MSH2:c.557A>G (p.Gln186Arg) MSH2:c.755A>G APC:c.5017A>G (p.Thr1673Ala) APC:c.4993A>G (p.Thr1665Ala) APC:c.4888A>G (p.Thr1630Ala) APC:c.4879A>G (p.Thr1627Ala) APC:c.4840A>G (p.Thr1614Ala) APC:c.4786A>G (p.Thr1596Ala) APC:c.4690A>G (p.Thr1564Ala) APC:c.4660A>G (p.Thr1554Ala) APC:c.4585A>G (p.Thr1529Ala) APC:c.4483A>G (p.Thr1495Ala) APC:c.4114A>G (p.Thr1372Ala) APC:c.5233T>C (p.Cys1745Arg) APC:c.5209T>C (p.Cys1737Arg) APC:c.5104T>C (p.Cys1702Arg) APC:c.5095T>C (p.Cys1699Arg) APC:c.5056T>C (p.Cys1686Arg) APC:c.5002T>C (p.Cys1668Arg) APC:c.4906T>C (p.Cys1636Arg) APC:c.4876T>C (p.Cys1626Arg) APC:c.4801T>C (p.Cys1601Arg) APC:c.4699T>C (p.Cys1567Arg) APC:c.4330T>C (p.Cys1444Arg) APC:c.5336A>C (p.Asn1779Thr) APC:c.5312A>C (p.Asn1771Thr) APC:c.5207A>C (p.Asn1736Thr) APC:c.5198A>C (p.Asn1733Thr) APC:c.5159A>C (p.Asn1720Thr) APC:c.5105A>C (p.Asn1702Thr) APC:c.5009A>C (p.Asn1670Thr) APC:c.4979A>C (p.Asn1660Thr) APC:c.4904A>C (p.Asn1635Thr) APC:c.4802A>C (p.Asn1601Thr) APC:c.4433A>C (p.Asn1478Thr) ATM:c.4091A>G (p.Asp1364Gly) PALB2:c.1468C>G (p.Pro490Ala) BRCA2:c.486del (p.Ser163fs) BRCA2:c.6320del (p.Pro2107fs) BRCA2:c.8331+2T>C PALB2:c.23C>T (p.Pro8Leu) PALB2:c.2514+3A>G ATM:c.2275A>G (p.Ser759Gly) BRCA1:c.696_697delAA (p.Ser233Argfs) BRCA1:c.693_694delAA (p.Ser232Argfs) BRCA1:c.684_685delAA (p.Ser229Argfs) BRCA1:c.678_679delAA (p.Ser227Argfs) BRCA2:c.489_490insG (p.Leu164fs) ATM:c.6974C>T (p.Ala2325Val) ATM:c.641-17153G>A ATM:c.*38+8996G>A ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T MSH6:c.2780T>C (p.Ile927Thr) MSH6:c.2390T>C (p.Ile797Thr) MSH6:c.1874T>C (p.Ile625Thr) MSH6:c.3788G>A (p.Arg1263His) MSH6:c.3398G>A (p.Arg1133His) MSH6:c.2882G>A (p.Arg961His) MSH2:c.1963G>A MSH2:c.1963G>A (p.Val655Ile) MSH2:c.1765G>A (p.Val589Ile) STK11:c.1211C>T (p.Ser404Phe) MUTYH:c.1393-17C>G MUTYH:c.1438-17C>G MUTYH:c.1468-17C>G MUTYH:c.1477-17C>G MUTYH:c.1117-17C>G MUTYH:c.1396-17C>G MUTYH:c.1426-17C>G RAD51D:c.146C>T (p.Ala49Val) RAD51D:c.144+493C>T RAD51D:c.26G>C (p.Cys9Ser) RAD51D:c.413A>G (p.Asn138Ser) RAD51D:c.473A>G (p.Asn158Ser) RAD51D:c.145-574A>G RAD51D:c.628G>A (p.Ala210Thr) RAD51D:c.568G>A (p.Ala190Thr) RAD51D:c.232G>A (p.Ala78Thr) RAD51D:c.973G>A (p.Gly325Ser) RAD51D:c.1033G>A (p.Gly345Ser) RAD51D:c.637G>A (p.Gly213Ser) BMPR1A:c.953A>G (p.Tyr318Cys) BMPR1A:c.231-9C>T CHEK2:c.1556G>A CHEK2:c.1685G>A (p.Arg562Gln) CHEK2:c.893G>A (p.Arg298Gln) CHEK2:c.1355G>A (p.Arg452Gln) CHEK2:c.1556G>A (p.Arg519Gln) CHEK2:c.1469G>A (p.Arg490Gln) MSH6:c.3824G>A (p.Cys1275Tyr) MSH6:c.3434G>A (p.Cys1145Tyr) MSH6:c.2918G>A (p.Cys973Tyr) MSH2:c.386C>T (p.Ser129Phe) MSH2:c.386C>T MSH2:c.188C>T (p.Ser63Phe) MSH2:c.403C>T MSH2:c.403C>T (p.Leu135Phe) MSH2:c.205C>T (p.Leu69Phe) RAD51D:c.919G>A (p.Glu307Lys) RAD51D:c.979G>A (p.Glu327Lys) RAD51D:c.583G>A (p.Glu195Lys) CDKN2A:c.315C>A CDKN2A:c.315C>A (p.Asp105Glu) CDKN2A:c.162C>A (p.Asp54Glu) CDKN2A:c.358C>A (p.Arg120Ser) CDKN2A:c.*238C>A BMPR1A:c.98C>G (p.Thr33Ser) MUTYH:c.914-9C>T MUTYH:c.947-9C>T MUTYH:c.569-9C>T MUTYH:c.638-9C>T MUTYH:c.959-9C>T MUTYH:c.989-9C>T MUTYH:c.998-9C>T PALB2:c.1424dup (p.Arg476fs) PALB2:c.1492G>A (p.Asp498Asn) MSH6:c.95G>A (p.Gly32Asp) MSH6:c.-642G>A APC:c.8327A>G (p.Glu2776Gly) APC:c.8303A>G (p.Glu2768Gly) APC:c.8198A>G (p.Glu2733Gly) APC:c.8189A>G (p.Glu2730Gly) APC:c.8150A>G (p.Glu2717Gly) APC:c.8096A>G (p.Glu2699Gly) APC:c.8000A>G (p.Glu2667Gly) APC:c.7970A>G (p.Glu2657Gly) APC:c.7895A>G (p.Glu2632Gly) APC:c.7793A>G (p.Glu2598Gly) APC:c.7424A>G (p.Glu2475Gly) MSH6:c.2511C>G (p.His837Gln) MSH6:c.2121C>G (p.His707Gln) MSH6:c.1605C>G (p.His535Gln) NBN:c.1777C>G (p.Pro593Ala) NBN:c.1531C>G (p.Pro511Ala) BRIP1:c.1741C>T (p.Arg581Ter) ATM:c.2449G>C (p.Asp817His) ATM:c.4658A>C (p.Glu1553Ala) APC:c.5991CAA[1] (p.Asn1999del) APC:c.5967CAA[1] (p.Asn1991del) APC:c.5862CAA[1] (p.Asn1956del) APC:c.5853CAA[1] (p.Asn1953del) APC:c.5814CAA[1] (p.Asn1940del) APC:c.5760CAA[1] (p.Asn1922del) APC:c.5664CAA[1] (p.Asn1890del) APC:c.5634CAA[1] (p.Asn1880del) APC:c.5559CAA[1] (p.Asn1855del) APC:c.5457CAA[1] (p.Asn1821del) APC:c.5088CAA[1] (p.Asn1698del) APC:c.3743A>G (p.Gln1248Arg) APC:c.3719A>G (p.Gln1240Arg) APC:c.3614A>G (p.Gln1205Arg) APC:c.3605A>G (p.Gln1202Arg) APC:c.3566A>G (p.Gln1189Arg) APC:c.3512A>G (p.Gln1171Arg) APC:c.3416A>G (p.Gln1139Arg) APC:c.3386A>G (p.Gln1129Arg) APC:c.3311A>G (p.Gln1104Arg) APC:c.3209A>G (p.Gln1070Arg) APC:c.2840A>G (p.Gln947Arg) BRCA2:c.7828G>A (p.Val2610Met) BMPR1A:c.676-6A>C BARD1:c.1738G>A BARD1:c.1738G>A (p.Glu580Lys) BARD1:c.365-15286G>A BARD1:c.1681G>A (p.Glu561Lys) BARD1:c.385G>A (p.Glu129Lys) BARD1:c.328G>A (p.Glu110Lys) BRIP1:c.3178G>A (p.Val1060Ile) BRIP1:c.477_481del (p.Lys159fs) MUTYH:c.1450G>A (p.Ala484Thr) MUTYH:c.1411G>A (p.Ala471Thr) MUTYH:c.1399G>A (p.Ala467Thr) MUTYH:c.1090G>A (p.Ala364Thr) MUTYH:c.1021G>A (p.Ala341Thr) MUTYH:c.1441G>A (p.Ala481Thr) APC:c.5440A>G (p.Lys1814Glu) APC:c.5416A>G (p.Lys1806Glu) APC:c.5311A>G (p.Lys1771Glu) APC:c.5302A>G (p.Lys1768Glu) APC:c.5263A>G (p.Lys1755Glu) APC:c.5209A>G (p.Lys1737Glu) APC:c.5113A>G (p.Lys1705Glu) APC:c.5083A>G (p.Lys1695Glu) APC:c.5008A>G (p.Lys1670Glu) APC:c.4906A>G (p.Lys1636Glu) APC:c.4537A>G (p.Lys1513Glu) APC:c.7214A>G (p.Asn2405Ser) APC:c.7190A>G (p.Asn2397Ser) APC:c.7085A>G (p.Asn2362Ser) APC:c.7076A>G (p.Asn2359Ser) APC:c.7037A>G (p.Asn2346Ser) APC:c.6983A>G (p.Asn2328Ser) APC:c.6887A>G (p.Asn2296Ser) APC:c.6857A>G (p.Asn2286Ser) APC:c.6782A>G (p.Asn2261Ser) APC:c.6680A>G (p.Asn2227Ser) APC:c.6311A>G (p.Asn2104Ser) RAD51D:c.695G>A (p.Arg232Gln) RAD51D:c.755G>A (p.Arg252Gln) RAD51D:c.359G>A (p.Arg120Gln) RAD51D:c.755G>A PALB2:c.3290C>G (p.Pro1097Arg) CDH1:c.160A>G CDH1:c.160A>G (p.Arg54Gly) CDH1:c.-1456A>G CDH1:c.-1660A>G MSH2:c.1347G>C MSH2:c.1347G>C (p.Lys449Asn) MSH2:c.1149G>C (p.Lys383Asn) MUTYH:c.836G>A (p.Arg279Gln) MUTYH:c.920G>A (p.Arg307Gln) MUTYH:c.881G>A (p.Arg294Gln) MUTYH:c.869G>A (p.Arg290Gln) MUTYH:c.560G>A (p.Arg187Gln) MUTYH:c.491G>A (p.Arg164Gln) MUTYH:c.911G>A (p.Arg304Gln) BRCA2:c.971G>A (p.Arg324Lys) RAD51D:c.481-7G>A RAD51D:c.145-7G>A RAD51D:c.541-7G>A RAD51C:c.*8071C>T RAD51C:c.640C>T RAD51C:c.640C>T (p.Arg214Cys) RAD51C:c.*68C>T ATM:c.5893_5897delAAAAG (p.Lys1965Tyrfs) ATM:c.5893_5897del (p.Lys1965fs) ATM:c.641-1220_641-1216del ATM:c.*39-1220_*39-1216del BRCA1:c.635A>C (p.Lys212Thr) BRCA1:c.872A>C (p.Lys291Thr) BRCA1:c.512A>C (p.Lys171Thr) BRCA1:c.128A>C (p.Lys43Thr) BRCA1:c.1016A>C (p.Lys339Thr) BRCA1:c.875A>C (p.Lys292Thr) BRCA1:c.787+229A>C MSH6:c.2226C>G (p.Asn742Lys) MSH6:c.1836C>G (p.Asn612Lys) MSH6:c.1320C>G (p.Asn440Lys) APC:c.8443A>G (p.Ser2815Gly) APC:c.8419A>G (p.Ser2807Gly) APC:c.8314A>G (p.Ser2772Gly) APC:c.8305A>G (p.Ser2769Gly) APC:c.8266A>G (p.Ser2756Gly) APC:c.8212A>G (p.Ser2738Gly) APC:c.8116A>G (p.Ser2706Gly) APC:c.8086A>G (p.Ser2696Gly) APC:c.8011A>G (p.Ser2671Gly) APC:c.7909A>G (p.Ser2637Gly) APC:c.7540A>G (p.Ser2514Gly) ATM:c.5858C>T (p.Thr1953Ile) ATM:c.641-1184G>A ATM:c.*39-1184G>A CDH1:c.325A>C CDH1:c.325A>C (p.Lys109Gln) CDH1:c.-1291A>C CDH1:c.-1495A>C CDH1:c.2398C>T CDH1:c.2215C>T (p.Arg739Cys) CDH1:c.850C>T (p.Arg284Cys) CDH1:c.433C>T (p.Arg145Cys) CDH1:c.2398C>T (p.Arg800Cys) BRCA1:c.3268A>C (p.Lys1090Gln) BRCA1:c.3271A>C (p.Lys1091Gln) BRCA1:c.3412A>C (p.Lys1138Gln) BRCA1:c.3409A>C (p.Lys1137Gln) BRCA1:c.3394A>C (p.Lys1132Gln) BRCA1:c.3391A>C (p.Lys1131Gln) BRIP1:c.2863A>C (p.Asn955His) PMS2:c.-51G>T PMS2:c.355G>T (p.Asp119Tyr) PMS2:c.37G>T (p.Asp13Tyr) PMS2:c.-530G>T PMS2:c.46G>T (p.Asp16Tyr) APC:c.1871T>C (p.Ile624Thr) APC:c.1847T>C (p.Ile616Thr) APC:c.1742T>C (p.Ile581Thr) APC:c.1733T>C (p.Ile578Thr) APC:c.1694T>C (p.Ile565Thr) APC:c.1640T>C (p.Ile547Thr) APC:c.1544T>C (p.Ile515Thr) APC:c.1514T>C (p.Ile505Thr) APC:c.1439T>C (p.Ile480Thr) APC:c.1337T>C (p.Ile446Thr) APC:c.968T>C (p.Ile323Thr) MSH6:c.3832C>A (p.Pro1278Thr) MSH6:c.3442C>A (p.Pro1148Thr) MSH6:c.2926C>A (p.Pro976Thr) ATM:c.95G>T (p.Arg32Leu) CHEK2:c.707T>C CHEK2:c.836T>C (p.Leu279Pro) CHEK2:c.44T>C (p.Leu15Pro) CHEK2:c.506T>C (p.Leu169Pro) CHEK2:c.707T>C (p.Leu236Pro) MSH6:c.2147C>T (p.Thr716Ile) MSH6:c.1757C>T (p.Thr586Ile) MSH6:c.1241C>T (p.Thr414Ile) BRCA2:c.2488A>G (p.Asn830Asp) PMS2:c.2071G>A (p.Glu691Lys) PMS2:c.2320G>A (p.Glu774Lys) PMS2:c.2158G>A (p.Glu720Lys) PMS2:c.2104G>A (p.Glu702Lys) PMS2:c.1915G>A (p.Glu639Lys) PMS2:c.1543G>A (p.Glu515Lys) PMS2:c.1903G>A (p.Glu635Lys) PMS2:c.2509G>A (p.Glu837Lys) PMS2:c.2167G>A (p.Glu723Lys) PALB2:c.1756G>A (p.Asp586Asn) ATM:c.3772C>A (p.His1258Asn) MSH6:c.2161A>G (p.Arg721Gly) MSH6:c.1771A>G (p.Arg591Gly) MSH6:c.1255A>G (p.Arg419Gly) MSH6:c.491A>C (p.His164Pro) MSH6:c.-412A>C MSH6:c.-279-2684A>C MSH6:c.238-2684A>C ATM:c.439A>G (p.Lys147Glu) BRIP1:c.326A>G (p.Asn109Ser) PALB2:c.3053A>C (p.Glu1018Ala) MUTYH:c.17C>A (p.Ser6Tyr) MUTYH:c.-238C>A MUTYH:c.-297C>A MUTYH:c.-233C>A MUTYH:c.-42C>A MUTYH:c.-22C>A MUTYH:c.-15G>T PALB2:c.995T>A (p.Leu332His) BRCA2:c.9409A>T (p.Thr3137Ser) APC:c.2749G>C (p.Gly917Arg) APC:c.2644G>C (p.Gly882Arg) APC:c.2635G>C (p.Gly879Arg) APC:c.2596G>C (p.Gly866Arg) APC:c.2542G>C (p.Gly848Arg) APC:c.2446G>C (p.Gly816Arg) APC:c.2416G>C (p.Gly806Arg) APC:c.2341G>C (p.Gly781Arg) APC:c.2239G>C (p.Gly747Arg) APC:c.1870G>C (p.Gly624Arg) APC:c.2719G>C PALB2:c.1646A>G (p.His549Arg) CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C BRCA2:c.8699A>G BRCA2:c.8699A>G (p.Asp2900Gly) BRCA2:c.9650T>A BRCA2:c.9650T>A (p.Met3217Lys) PALB2:c.2093T>C PALB2:c.2093T>C (p.Leu698Pro) MSH6:c.1054G>A (p.Val352Ile) MSH6:c.664G>A (p.Val222Ile) MSH6:c.148G>A (p.Val50Ile) MUTYH:c.848G>A (p.Arg283Lys) MUTYH:c.932G>A (p.Arg311Lys) MUTYH:c.893G>A (p.Arg298Lys) MUTYH:c.881G>A (p.Arg294Lys) MUTYH:c.572G>A (p.Arg191Lys) MUTYH:c.503G>A (p.Arg168Lys) MUTYH:c.923G>A (p.Arg308Lys) BARD1:c.1360C>G BARD1:c.1360C>G (p.Pro454Ala) BARD1:c.1303C>G (p.Pro435Ala) BARD1:c.159-16712C>G BARD1:c.216-16712C>G BARD1:c.364+23030C>G MSH2:c.701C>T (p.Thr234Ile) MSH2:c.701C>T MSH2:c.503C>T (p.Thr168Ile) APC:c.3011A>G (p.Tyr1004Cys) APC:c.2987A>G (p.Tyr996Cys) APC:c.2882A>G (p.Tyr961Cys) APC:c.2873A>G (p.Tyr958Cys) APC:c.2834A>G (p.Tyr945Cys) APC:c.2780A>G (p.Tyr927Cys) APC:c.2684A>G (p.Tyr895Cys) APC:c.2654A>G (p.Tyr885Cys) APC:c.2579A>G (p.Tyr860Cys) APC:c.2477A>G (p.Tyr826Cys) APC:c.2108A>G (p.Tyr703Cys) APC:c.3401G>A (p.Gly1134Asp) APC:c.3377G>A (p.Gly1126Asp) APC:c.3272G>A (p.Gly1091Asp) APC:c.3263G>A (p.Gly1088Asp) APC:c.3224G>A (p.Gly1075Asp) APC:c.3170G>A (p.Gly1057Asp) APC:c.3074G>A (p.Gly1025Asp) APC:c.3044G>A (p.Gly1015Asp) APC:c.2969G>A (p.Gly990Asp) APC:c.2867G>A (p.Gly956Asp) APC:c.2498G>A (p.Gly833Asp) BRCA2:c.6614T>G (p.Val2205Gly) CDH1:c.2026G>A CDH1:c.1843G>A (p.Asp615Asn) CDH1:c.478G>A (p.Asp160Asn) CDH1:c.61G>A (p.Asp21Asn) CDH1:c.2026G>A (p.Asp676Asn) RAD51D:c.355T>C (p.Cys119Arg) RAD51D:c.415T>C (p.Cys139Arg) RAD51D:c.145-632T>C STK11:c.632G>A (p.Arg211Gln) MUTYH:c.1038G>A (p.Ser346=) MUTYH:c.999G>A (p.Ser333=) MUTYH:c.987G>A (p.Ser329=) MUTYH:c.678G>A (p.Ser226=) MUTYH:c.954G>A (p.Ser318=) MUTYH:c.609G>A (p.Ser203=) MUTYH:c.1029G>A (p.Ser343=) MUTYH:c.409G>A (p.Ala137Thr) MUTYH:c.493G>A (p.Ala165Thr) MUTYH:c.454G>A (p.Ala152Thr) MUTYH:c.442G>A (p.Ala148Thr) MUTYH:c.133G>A (p.Ala45Thr) MUTYH:c.64G>A (p.Ala22Thr) MUTYH:c.484G>A (p.Ala162Thr) MLH1:c.262C>A (p.His88Asn) MLH1:c.-261C>A MLH1:c.-374C>A MLH1:c.-271C>A MLH1:c.556C>A (p.His186Asn) MLH1:c.457C>A (p.His153Asn) MSH6:c.3782C>T (p.Ala1261Val) MSH6:c.3392C>T (p.Ala1131Val) MSH6:c.2876C>T (p.Ala959Val) MLH1:c.667C>T (p.Leu223Phe) MLH1:c.616C>T (p.Leu206Phe) MLH1:c.1690C>T (p.Leu564Phe) MLH1:c.1591C>T (p.Leu531Phe) RAD51C:c.779G>C RAD51C:c.*14739G>C RAD51C:c.779G>C (p.Arg260Pro) RAD51C:c.*207G>C PMS2:c.762A>G (p.Ile254Met) PMS2:c.675A>G (p.Ile225Met) PMS2:c.147A>G (p.Ile49Met) PMS2:c.507A>G (p.Ile169Met) PMS2:c.1080A>G (p.Ile360Met) PMS2:c.771A>G (p.Ile257Met) PMS2:c.583+2109A>G PMS2:c.988+2109A>G PMS2:c.1080A>G PMS2:c.277C>T (p.Arg93Cys) PMS2:c.190C>T (p.Arg64Cys) PMS2:c.-339C>T PMS2:c.595C>T (p.Arg199Cys) PMS2:c.286C>T (p.Arg96Cys) PMS2:c.133-1795C>T PMS2:c.595C>T ATM:c.4196C>A (p.Thr1399Asn) BRCA2:c.8450G>T (p.Cys2817Phe) BRCA1:c.712A>G (p.Arg238Gly) BRCA1:c.949A>G (p.Arg317Gly) BRCA1:c.589A>G (p.Arg197Gly) BRCA1:c.205A>G (p.Arg69Gly) BRCA1:c.1093A>G (p.Arg365Gly) BRCA1:c.952A>G (p.Arg318Gly) BRCA1:c.787+306A>G APC:c.5633A>G (p.Asp1878Gly) APC:c.5528A>G (p.Asp1843Gly) APC:c.5519A>G (p.Asp1840Gly) APC:c.5480A>G (p.Asp1827Gly) APC:c.5426A>G (p.Asp1809Gly) APC:c.5330A>G (p.Asp1777Gly) APC:c.5300A>G (p.Asp1767Gly) APC:c.5225A>G (p.Asp1742Gly) APC:c.5123A>G (p.Asp1708Gly) APC:c.4754A>G (p.Asp1585Gly) APC:c.5603A>G PMS2:c.1769C>T (p.Ala590Val) PMS2:c.2018C>T (p.Ala673Val) PMS2:c.1856C>T (p.Ala619Val) PMS2:c.1613C>T (p.Ala538Val) PMS2:c.1241C>T (p.Ala414Val) PMS2:c.1601C>T (p.Ala534Val) PMS2:c.2174C>T (p.Ala725Val) PMS2:c.1865C>T (p.Ala622Val) PMS2:c.917T>C (p.Val306Ala) PMS2:c.599T>C (p.Val200Ala) PMS2:c.512T>C (p.Val171Ala) PMS2:c.-17T>C PMS2:c.344T>C (p.Val115Ala) PMS2:c.608T>C (p.Val203Ala) PMS2:c.917T>C ATM:c.566G>C (p.Arg189Thr) ATM:c.5267C>G (p.Thr1756Arg) PMS2:c.1601+1G>C PMS2:c.1241+1G>C PMS2:c.1769+1G>C PMS2:c.1865+1G>C PMS2:c.1856+1G>C PMS2:c.2018+1G>C PMS2:c.2174+1G>C PALB2:c.3244A>G (p.Ser1082Gly) CDH1:c.1996A>C CDH1:c.1813A>C (p.Asn605His) CDH1:c.448A>C (p.Asn150His) CDH1:c.31A>C (p.Asn11His) CDH1:c.1996A>C (p.Asn666His) BRIP1:c.3260A>G (p.Asn1087Ser) BRIP1:c.1208G>A (p.Arg403Gln) RAD51D:c.772G>A (p.Gly258Arg) RAD51D:c.832G>A (p.Gly278Arg) RAD51D:c.436G>A (p.Gly146Arg) RAD51D:c.409T>A (p.Cys137Ser) RAD51D:c.349T>A (p.Cys117Ser) RAD51D:c.145-638T>A BMPR1A:c.5C>T (p.Pro2Leu) CHEK2:c.1118A>G CHEK2:c.1247A>G (p.Lys416Arg) CHEK2:c.455A>G (p.Lys152Arg) CHEK2:c.917A>G (p.Lys306Arg) CHEK2:c.1118A>G (p.Lys373Arg) CHEK2:c.1031A>G (p.Lys344Arg) NBN:c.1343A>T (p.Gln448Leu) NBN:c.1097A>T (p.Gln366Leu) BRCA2:c.4793delT BRCA2:c.4793del (p.Leu1598fs) CHEK2:c.1052A>C CHEK2:c.1181A>C (p.Glu394Ala) CHEK2:c.389A>C (p.Glu130Ala) CHEK2:c.851A>C (p.Glu284Ala) CHEK2:c.1052A>C (p.Glu351Ala) CHEK2:c.1009-1071A>C SMAD4:c.172A>G (p.Ile58Val) MSH6:c.3856_3859del (p.Leu1286fs) MSH6:c.3466_3469del (p.Leu1156fs) MSH6:c.2950_2953del (p.Leu984fs) CDH1:c.1813A>G CDH1:c.1630A>G (p.Arg544Gly) CDH1:c.265A>G (p.Arg89Gly) CDH1:c.-153A>G CDH1:c.1813A>G (p.Arg605Gly) PALB2:c.1123C>A (p.Leu375Ile) BRIP1:c.1474-3T>C ATM:c.3080A>G (p.His1027Arg) MSH2:c.2195C>T (p.Thr732Ile) MSH2:c.2285C>T (p.Thr762Ile) MSH2:c.1925C>T (p.Thr642Ile) MSH2:c.1448C>T (p.Thr483Ile) MSH2:c.989C>T (p.Thr330Ile) MSH2:c.2345C>T (p.Thr782Ile) MSH6:c.899G>A (p.Arg300Gln) MSH6:c.509G>A (p.Arg170Gln) MSH6:c.-8G>A MSH6:c.3101G>A (p.Arg1034Gln) MSH6:c.2711G>A (p.Arg904Gln) MSH6:c.2195G>A (p.Arg732Gln) CDH1:c.2164+3A>G CDH1:c.616+3A>G CDH1:c.199+3A>G CDH1:c.1981+3A>G BRIP1:c.2563C>T (p.Arg855Cys) MSH6:c.3802-8T>G MSH6:c.2896-8T>G MSH6:c.3412-8T>G MUTYH:c.-277-7G>A MUTYH:c.-6-7G>A MUTYH:c.37-7G>A MUTYH:c.-218-7G>A ATM:c.2480A>G (p.Lys827Arg) MSH6:c.261-1G>C MSH6:c.-476-1G>C MSH6:c.237+7456G>C MSH6:c.-642-1G>C CDKN2A:c.-14C>T CDKN2A:c.-3-3633C>T CDKN2A:c.194-3633C>T MLH1:c.1244T>C (p.Ile415Thr) MLH1:c.515T>C (p.Ile172Thr) MLH1:c.464T>C (p.Ile155Thr) MLH1:c.1538T>C (p.Ile513Thr) MLH1:c.1439T>C (p.Ile480Thr) PMS2:c.2404G>A (p.Ala802Thr) PMS2:c.2242G>A (p.Ala748Thr) PMS2:c.2188G>A (p.Ala730Thr) PMS2:c.1999G>A (p.Ala667Thr) PMS2:c.1627G>A (p.Ala543Thr) PMS2:c.1987G>A (p.Ala663Thr) PMS2:c.2593G>A (p.Ala865Thr) PMS2:c.2251G>A (p.Ala751Thr) PMS2:c.2560G>A MUTYH:c.492G>A (p.Lys164=) MUTYH:c.576G>A (p.Lys192=) MUTYH:c.537G>A (p.Lys179=) MUTYH:c.525G>A (p.Lys175=) MUTYH:c.216G>A (p.Lys72=) MUTYH:c.147G>A (p.Lys49=) MUTYH:c.567G>A (p.Lys189=) MSH6:c.2983G>A (p.Glu995Lys) MSH6:c.2593G>A (p.Glu865Lys) MSH6:c.2077G>A (p.Glu693Lys) MSH6:c.3724C>T (p.Arg1242Cys) MSH6:c.3334C>T (p.Arg1112Cys) MSH6:c.2818C>T (p.Arg940Cys) NBN:c.91T>C (p.Cys31Arg) NBN:c.-206T>C BRCA2:c.8040C>G (p.Asp2680Glu) MSH6:c.3070C>T (p.Arg1024Trp) MSH6:c.2680C>T (p.Arg894Trp) MSH6:c.2164C>T (p.Arg722Trp) BRCA2:c.413_417del (p.Ser137_Cys138insTer) BRCA1:c.212A>T (p.His71Leu) BRCA1:c.506A>T (p.His169Leu) BRCA1:c.716A>T (p.His239Leu) BRCA1:c.575A>T (p.His192Leu) RAD51C:c.397C>G RAD51C:c.397C>G (p.Gln133Glu) ATM:c.6741T>G (p.Ile2247Met) ATM:c.641-16407A>C ATM:c.*38+9742A>C ATM:c.4631A>G (p.Tyr1544Cys) APC:c.7139G>T (p.Gly2380Val) APC:c.7034G>T (p.Gly2345Val) APC:c.7025G>T (p.Gly2342Val) APC:c.6986G>T (p.Gly2329Val) APC:c.6932G>T (p.Gly2311Val) APC:c.6836G>T (p.Gly2279Val) APC:c.6806G>T (p.Gly2269Val) APC:c.6731G>T (p.Gly2244Val) APC:c.6629G>T (p.Gly2210Val) APC:c.6260G>T (p.Gly2087Val) APC:c.7109G>T BRCA1:c.2265_2266insGCAG (p.Thr757Glyfs) BRCA1:c.2502_2503insGCAG (p.Thr836Glyfs) BRCA1:c.2142_2143insGCAG (p.Thr716Glyfs) BRCA1:c.1758_1759insGCAG (p.Thr588Glyfs) BRCA1:c.2646_2647insGCAG (p.Thr884Glyfs) BRCA1:c.2649_2650insGGCA (p.Thr884fs) BRCA1:c.2508_2509insGGCA (p.Thr837fs) BRCA1:c.788-1850_788-1849insGCAG BRCA1:c.-167G>A BRCA1:c.-286G>A BRCA1:c.22G>A (p.Val8Ile) BRCA1:c.-66G>A BRCA1:c.1707dup (p.Glu572Argfs) BRCA1:c.1944dup (p.Glu651Argfs) BRCA1:c.1584dup (p.Glu531Argfs) BRCA1:c.1200dup (p.Glu403Argfs) BRCA1:c.2088dup (p.Glu699Argfs) BRCA1:c.2090dup (p.Glu699fs) BRCA1:c.1949dup (p.Glu652fs) BRCA1:c.787+1303dup CHEK2:c.1008G>A CHEK2:c.1137G>A (p.Gln379=) CHEK2:c.345G>A (p.Gln115=) CHEK2:c.807G>A (p.Gln269=) CHEK2:c.1008G>A (p.Gln336=) MLH1:c.687-8C>T MLH1:c.387-8C>T MLH1:c.336-8C>T MLH1:c.1116-8C>T MLH1:c.1410-8C>T APC:c.3661G>C (p.Gly1221Arg) APC:c.3637G>C (p.Gly1213Arg) APC:c.3532G>C (p.Gly1178Arg) APC:c.3523G>C (p.Gly1175Arg) APC:c.3484G>C (p.Gly1162Arg) APC:c.3430G>C (p.Gly1144Arg) APC:c.3334G>C (p.Gly1112Arg) APC:c.3304G>C (p.Gly1102Arg) APC:c.3229G>C (p.Gly1077Arg) APC:c.3127G>C (p.Gly1043Arg) APC:c.2758G>C (p.Gly920Arg) MSH6:c.3607C>A (p.His1203Asn) MSH6:c.3217C>A (p.His1073Asn) MSH6:c.2701C>A (p.His901Asn) APC:c.6972T>A (p.Asp2324Glu) APC:c.6948T>A (p.Asp2316Glu) APC:c.6843T>A (p.Asp2281Glu) APC:c.6834T>A (p.Asp2278Glu) APC:c.6795T>A (p.Asp2265Glu) APC:c.6741T>A (p.Asp2247Glu) APC:c.6645T>A (p.Asp2215Glu) APC:c.6615T>A (p.Asp2205Glu) APC:c.6540T>A (p.Asp2180Glu) APC:c.6438T>A (p.Asp2146Glu) APC:c.6069T>A (p.Asp2023Glu) BRCA2:c.9932C>T (p.Pro3311Leu) BRCA2:c.3077A>G (p.Lys1026Arg) BRCA1:c.1667A>G (p.Lys556Arg) BRCA1:c.1904A>G (p.Lys635Arg) BRCA1:c.1544A>G (p.Lys515Arg) BRCA1:c.1160A>G (p.Lys387Arg) BRCA1:c.2048A>G (p.Lys683Arg) BRCA1:c.1907A>G (p.Lys636Arg) BRCA1:c.787+1261A>G BRIP1:c.2705T>C (p.Ile902Thr) APC:c.2263T>C (p.Tyr755His) APC:c.2239T>C (p.Tyr747His) APC:c.2134T>C (p.Tyr712His) APC:c.2125T>C (p.Tyr709His) APC:c.2086T>C (p.Tyr696His) APC:c.2032T>C (p.Tyr678His) APC:c.1936T>C (p.Tyr646His) APC:c.1906T>C (p.Tyr636His) APC:c.1831T>C (p.Tyr611His) APC:c.1729T>C (p.Tyr577His) APC:c.1360T>C (p.Tyr454His) PALB2:c.2272C>A (p.Pro758Thr) PALB2:c.127A>G (p.Lys43Glu) RAD51D:c.38C>T (p.Thr13Ile) STK11:c.1063G>A (p.Asp355Asn) APC:c.2465A>G (p.Asn822Ser) APC:c.2441A>G (p.Asn814Ser) APC:c.2336A>G (p.Asn779Ser) APC:c.2327A>G (p.Asn776Ser) APC:c.2288A>G (p.Asn763Ser) APC:c.2234A>G (p.Asn745Ser) APC:c.2138A>G (p.Asn713Ser) APC:c.2108A>G (p.Asn703Ser) APC:c.2033A>G (p.Asn678Ser) APC:c.1931A>G (p.Asn644Ser) APC:c.1562A>G (p.Asn521Ser) MSH6:c.170C>G (p.Pro57Arg) MSH6:c.-567C>G APC:c.3479A>G (p.Asn1160Ser) APC:c.3455A>G (p.Asn1152Ser) APC:c.3350A>G (p.Asn1117Ser) APC:c.3341A>G (p.Asn1114Ser) APC:c.3302A>G (p.Asn1101Ser) APC:c.3248A>G (p.Asn1083Ser) APC:c.3152A>G (p.Asn1051Ser) APC:c.3122A>G (p.Asn1041Ser) APC:c.3047A>G (p.Asn1016Ser) APC:c.2945A>G (p.Asn982Ser) APC:c.2576A>G (p.Asn859Ser) BRCA2:c.5625G>T (p.Lys1875Asn) BRIP1:c.791G>A (p.Arg264Gln) CDH1:c.1202C>T CDH1:c.-414C>T CDH1:c.-618C>T CDH1:c.1202C>T (p.Ala401Val) CDH1:c.1137+1114C>T BARD1:c.344T>C BARD1:c.344T>C (p.Leu115Pro) BARD1:c.287T>C (p.Leu96Pro) BARD1:c.158+17095T>C BARD1:c.215+4744T>C PMS2:c.444T>A (p.Ser148Arg) PMS2:c.849T>A (p.Ser283Arg) PMS2:c.531T>A (p.Ser177Arg) PMS2:c.-85T>A PMS2:c.276T>A (p.Ser92Arg) PMS2:c.540T>A (p.Ser180Arg) ATM:c.8998C>G (p.Gln3000Glu) ATM:c.640+20585G>C ATM:c.694+20585G>C PALB2:c.3500C>T (p.Thr1167Ile) CHEK2:c.653T>C (p.Val218Ala) CHEK2:c.-254T>C CHEK2:c.524T>C (p.Val175Ala) CHEK2:c.445-122T>C CHEK2:c.524T>C PMS2:c.1436A>G (p.Lys479Arg) PMS2:c.1685A>G (p.Lys562Arg) PMS2:c.1523A>G (p.Lys508Arg) PMS2:c.1280A>G (p.Lys427Arg) PMS2:c.908A>G (p.Lys303Arg) PMS2:c.1268A>G (p.Lys423Arg) PMS2:c.1841A>G (p.Lys614Arg) PMS2:c.1532A>G (p.Lys511Arg) RAD51D:c.620C>G (p.Ser207Trp) RAD51D:c.680C>G (p.Ser227Trp) RAD51D:c.284C>G (p.Ser95Trp) BRCA2:c.9604C>T (p.Pro3202Ser) BARD1:c.2033A>G BARD1:c.2033A>G (p.Tyr678Cys) BARD1:c.1976A>G (p.Tyr659Cys) BARD1:c.680A>G (p.Tyr227Cys) BARD1:c.623A>G (p.Tyr208Cys) BARD1:c.494A>G (p.Tyr165Cys) APC:c.878G>A (p.Ser293Asn) APC:c.908G>A (p.Ser303Asn) APC:c.803G>A (p.Ser268Asn) APC:c.794G>A (p.Ser265Asn) APC:c.701G>A (p.Ser234Asn) APC:c.29G>A (p.Ser10Asn) MSH6:c.3160A>G (p.Ile1054Val) MSH6:c.2770A>G (p.Ile924Val) MSH6:c.2254A>G (p.Ile752Val) RAD51C:c.19C>A RAD51C:c.19C>A (p.Arg7Ser) NBN:c.1382C>T (p.Pro461Leu) NBN:c.1136C>T (p.Pro379Leu) PMS2:c.-165G>C PMS2:c.241G>C (p.Glu81Gln) PMS2:c.26G>C (p.Arg9Pro) PMS2:c.-644G>C PMS2:c.-244G>C PALB2:c.109-5T>C APC:c.5321C>T (p.Ser1774Phe) APC:c.5297C>T (p.Ser1766Phe) APC:c.5192C>T (p.Ser1731Phe) APC:c.5183C>T (p.Ser1728Phe) APC:c.5144C>T (p.Ser1715Phe) APC:c.5090C>T (p.Ser1697Phe) APC:c.4994C>T (p.Ser1665Phe) APC:c.4964C>T (p.Ser1655Phe) APC:c.4889C>T (p.Ser1630Phe) APC:c.4787C>T (p.Ser1596Phe) APC:c.4418C>T (p.Ser1473Phe) ATM:c.4652A>G (p.Asp1551Gly) BRCA2:c.3901A>T (p.Thr1301Ser) ATM:c.6629A>C (p.Gln2210Pro) ATM:c.641-16295T>G ATM:c.*38+9854T>G PALB2:c.1468C>T (p.Pro490Ser) PALB2:c.1376A>G (p.Asp459Gly) BRCA2:c.9486_9488del (p.Met3162_Lys3163delinsIle) APC:c.6707G>C (p.Arg2236Pro) APC:c.6602G>C (p.Arg2201Pro) APC:c.6593G>C (p.Arg2198Pro) APC:c.6554G>C (p.Arg2185Pro) APC:c.6500G>C (p.Arg2167Pro) APC:c.6404G>C (p.Arg2135Pro) APC:c.6374G>C (p.Arg2125Pro) APC:c.6299G>C (p.Arg2100Pro) APC:c.6197G>C (p.Arg2066Pro) APC:c.5828G>C (p.Arg1943Pro) APC:c.6677G>C BRCA2:c.2651C>T (p.Ser884Leu) BRCA2:c.2860delG BRCA2:c.2860del (p.Glu954fs) RAD51C:c.199G>C (p.Glu67Gln) RAD51C:c.199G>C PALB2:c.1206del (p.Leu403fs) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) ATM:c.7271T>G (p.Val2424Gly) ATM:c.641-20131A>C ATM:c.*38+6018A>C BRIP1:c.139C>G (p.Pro47Ala) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) TP53:c.448C>T (p.Arg150Trp) TP53:c.727C>T (p.Arg243Trp) TP53:c.367C>T (p.Arg123Trp) BRCA1:c.2T>G (p.Met1Arg) BRCA1:c.49T>G (p.Cys17Gly) BRCA1:c.190T>G (p.Cys64Gly) MLH1:c.914A>G (p.Tyr305Cys) MLH1:c.863A>G (p.Tyr288Cys) MLH1:c.1838A>G (p.Tyr613Cys) MLH1:c.1772A>G (p.Tyr591Cys) MLH1:c.1897-347A>G MLH1:c.1896+874A>G BRCA1:c.-35C>T BRCA1:c.13C>T (p.Leu5Phe) BRCA1:c.154C>T (p.Leu52Phe) BRCA1:c.2049delC (p.Lys685Argfs) BRCA1:c.2286delC (p.Lys764Argfs) BRCA1:c.1926delC (p.Lys644Argfs) BRCA1:c.1542delC (p.Lys516Argfs) BRCA1:c.2430delC (p.Lys812Argfs) BRCA1:c.2433del (p.Lys812fs) BRCA1:c.2292del (p.Lys765fs) BRCA1:c.787+1646del BRCA1:c.2866A>C (p.Met956Leu) BRCA1:c.3103A>C (p.Met1035Leu) BRCA1:c.2743A>C (p.Met915Leu) BRCA1:c.2359A>C (p.Met787Leu) BRCA1:c.3247A>C (p.Met1083Leu) BRCA1:c.3106A>C (p.Met1036Leu) BRCA1:c.788-1252A>C BRCA1:c.3955+1G>A BRCA1:c.788-402G>A BRCA1:c.4096+1G>A BRCA2:c.1755_1759del (p.Lys585fs) BRCA2:c.2426T>G (p.Leu809Ter) BRCA2:c.4058_4062del (p.Glu1353fs) BRCA2:c.440A>T (p.Gln147Leu) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.4965C>G (p.Tyr1655Ter) BRCA2:c.5238dup (p.Asn1747Ter) BRCA2:c.5655C>A (p.Cys1885Ter) BRCA2:c.7007G>A (p.Arg2336His) BRCA2:c.7414_7415del (p.Lys2472fs) BRCA2:c.7598C>G (p.Ser2533Cys) BRCA2:c.7976G>A (p.Arg2659Lys) BRCA2:c.8585dup BRCA2:c.8585dup (p.Glu2863fs) BRCA2:c.865A>G (p.Asn289Asp) BRCA2:c.8869C>T (p.Gln2957Ter) BRCA2:c.9117G>A (p.Pro3039=) BRCA2:c.9294C>G (p.Tyr3098Ter) BRCA2:c.9380G>A (p.Trp3127Ter) BRCA2:c.938C>T (p.Ser313Phe) BRCA2:c.9812T>C (p.Leu3271Ser) APC:c.6778A>G (p.Ser2260Gly) APC:c.6754A>G (p.Ser2252Gly) APC:c.6649A>G (p.Ser2217Gly) APC:c.6640A>G (p.Ser2214Gly) APC:c.6601A>G (p.Ser2201Gly) APC:c.6547A>G (p.Ser2183Gly) APC:c.6451A>G (p.Ser2151Gly) APC:c.6421A>G (p.Ser2141Gly) APC:c.6346A>G (p.Ser2116Gly) APC:c.6244A>G (p.Ser2082Gly) APC:c.5875A>G (p.Ser1959Gly) APC:c.2234C>T (p.Ala745Val) APC:c.2129C>T (p.Ala710Val) APC:c.2120C>T (p.Ala707Val) APC:c.2081C>T (p.Ala694Val) APC:c.2027C>T (p.Ala676Val) APC:c.1931C>T (p.Ala644Val) APC:c.1901C>T (p.Ala634Val) APC:c.1826C>T (p.Ala609Val) APC:c.1724C>T (p.Ala575Val) APC:c.1355C>T (p.Ala452Val) APC:c.2204C>T APC:c.3406A>G (p.Asn1136Asp) APC:c.3382A>G (p.Asn1128Asp) APC:c.3277A>G (p.Asn1093Asp) APC:c.3268A>G (p.Asn1090Asp) APC:c.3229A>G (p.Asn1077Asp) APC:c.3175A>G (p.Asn1059Asp) APC:c.3079A>G (p.Asn1027Asp) APC:c.3049A>G (p.Asn1017Asp) APC:c.2974A>G (p.Asn992Asp) APC:c.2872A>G (p.Asn958Asp) APC:c.2503A>G (p.Asn835Asp) CDKN2A:c.373G>C (p.Asp125His) CDKN2A:c.220G>C (p.Asp74His) CDKN2A:c.*17G>C CDKN2A:c.*296G>C PMS2:c.1744G>A (p.Val582Met) PMS2:c.1993G>A (p.Val665Met) PMS2:c.1831G>A (p.Val611Met) PMS2:c.1588G>A (p.Val530Met) PMS2:c.1216G>A (p.Val406Met) PMS2:c.1576G>A (p.Val526Met) PMS2:c.2149G>A (p.Val717Met) PMS2:c.1840G>A (p.Val614Met) PMS2:c.53T>C (p.Ile18Thr) PMS2:c.-163T>C PMS2:c.-353T>C PMS2:c.-832T>C PMS2:c.-432T>C PMS2:c.-52-1944T>C PMS2:c.-242-1944T>C PMS2:c.167A>G (p.Tyr56Cys) PMS2:c.572A>G (p.Tyr191Cys) PMS2:c.254A>G (p.Tyr85Cys) PMS2:c.263A>G (p.Tyr88Cys) PMS2:c.133-1818A>G PMS2:c.-347-15A>G PMS2:c.953A>G (p.Tyr318Cys) PMS2:c.635A>G (p.Tyr212Cys) PMS2:c.548A>G (p.Tyr183Cys) PMS2:c.20A>G (p.Tyr7Cys) PMS2:c.380A>G (p.Tyr127Cys) PMS2:c.644A>G (p.Tyr215Cys) PMS2:c.953A>G APC:c.7445C>T (p.Ala2482Val) APC:c.7340C>T (p.Ala2447Val) APC:c.7331C>T (p.Ala2444Val) APC:c.7292C>T (p.Ala2431Val) APC:c.7238C>T (p.Ala2413Val) APC:c.7142C>T (p.Ala2381Val) APC:c.7112C>T (p.Ala2371Val) APC:c.7037C>T (p.Ala2346Val) APC:c.6935C>T (p.Ala2312Val) APC:c.6566C>T (p.Ala2189Val) APC:c.7415C>T MUTYH:c.1034C>T (p.Ala345Val) MUTYH:c.1118C>T (p.Ala373Val) MUTYH:c.1079C>T (p.Ala360Val) MUTYH:c.1067C>T (p.Ala356Val) MUTYH:c.758C>T (p.Ala253Val) MUTYH:c.689C>T (p.Ala230Val) MUTYH:c.1109C>T (p.Ala370Val) MUTYH:c.32G>A (p.Gly11Asp) MUTYH:c.74G>A (p.Gly25Asp) MUTYH:c.-181G>A MUTYH:c.-240G>A MUTYH:c.-176G>A BMPR1A:c.1243G>A (p.Glu415Lys) SMAD4:c.1573A>G (p.Ile525Val) SMAD4:c.565C>T (p.Arg189Cys) BRCA1:c.1384G>A (p.Glu462Lys) BRCA1:c.1381G>A (p.Glu461Lys) BMPR1A:c.1433G>A (p.Arg478His) BRCA2:c.3103G>T (p.Glu1035Ter) BRCA2:c.3206C>T (p.Ser1069Phe) BRCA2:c.3680_3681del (p.Leu1227fs) BRCA2:c.5158dup BRCA2:c.5158dup (p.Ser1720fs) BRCA2:c.5542del (p.Ser1848fs) BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.6124C>T (p.Gln2042Ter) BRCA2:c.8215G>A (p.Val2739Ile) BRCA2:c.442T>C (p.Cys148Arg) BRCA2:c.9182T>A (p.Leu3061Ter) BRCA2:c.5925T>A (p.Cys1975Ter) BRCA2:c.9770A>G (p.Lys3257Arg) BRCA1:c.800dup (p.Val270Glyfs) BRCA1:c.797dup (p.Val269Glyfs) BRCA1:c.887dup (p.Val299Glyfs) BRCA1:c.-136A>G BRCA1:c.-20A>G BRCA1:c.-67A>G BRCA1:c.2648_2649delCT (p.Pro883Argfs) BRCA1:c.2885_2886delCT (p.Pro962Argfs) BRCA1:c.2525_2526delCT (p.Pro842Argfs) BRCA1:c.2141_2142delCT (p.Pro714Argfs) BRCA1:c.3029_3030delCT (p.Pro1010Argfs) BRCA1:c.3029_3030del (p.Pro1010fs) BRCA1:c.2888_2889del (p.Pro963fs) BRCA1:c.788-1470_788-1469del BRCA1:c.127C>T (p.Arg43Trp) BRCA1:c.298C>T (p.Arg100Trp) BRCA1:c.508C>T (p.Arg170Trp) BRCA1:c.367C>T (p.Arg123Trp) BRCA1:c.1493A>G (p.Tyr498Cys) BRCA1:c.1466A>G (p.Tyr489Cys) BRCA1:c.1070A>G (p.Tyr357Cys) BRCA1:c.5306A>G (p.Tyr1769Cys) BRCA1:c.5165A>G (p.Tyr1722Cys) BRCA1:c.1994A>G (p.Tyr665Cys) BRCA1:c.5369A>G (p.Tyr1790Cys) BRCA1:c.5219dup (p.Tyr1740Terfs) BRCA1:c.5177dup (p.Tyr1726Terfs) BRCA1:c.5174dup (p.Tyr1725Terfs) BRCA1:c.5171dup (p.Tyr1724Terfs) BRCA1:c.5096dup (p.Tyr1699Terfs) BRCA1:c.5051dup (p.Tyr1684Terfs) BRCA1:c.4670dup (p.Tyr1557Terfs) BRCA1:c.4667dup (p.Tyr1556Terfs) BRCA1:c.2954dup (p.Tyr985Terfs) BRCA2:c.748del (p.Ser249_Val250insTer) MSH6:c.1402C>T (p.Arg468Cys) MSH6:c.1012C>T (p.Arg338Cys) MSH6:c.496C>T (p.Arg166Cys) MSH6:c.2408A>G (p.Asp803Gly) MSH6:c.2018A>G (p.Asp673Gly) MSH6:c.1502A>G (p.Asp501Gly) MSH6:c.3939_3957dup19 MSH6:c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) MSH6:c.3549_3567dup (p.Ala1190delinsSerLysGlyThrTer) MSH6:c.3033_3051dup (p.Ala1018delinsSerLysGlyThrTer) MLH1:c.661G>A (p.Glu221Lys) MLH1:c.-69G>A MLH1:c.955G>A (p.Glu319Lys) MLH1:c.856G>A (p.Glu286Lys) MLH1:c.-36-5257G>A MSH2:c.991A>G MSH2:c.991A>G (p.Asn331Asp) MSH2:c.793A>G (p.Asn265Asp) PMS2:c.1601+1G>A PMS2:c.1241+1G>A PMS2:c.1769+1G>A PMS2:c.1865+1G>A PMS2:c.1856+1G>A PMS2:c.2018+1G>A PMS2:c.2174+1G>A BRCA2:c.7865A>G (p.Asn2622Ser) BRCA2:c.2808del (p.Lys936fs) BRCA2:c.3700C>A (p.Leu1234Met) BRCA2:c.631+7A>G BRCA1:c.76A>G (p.Ser26Gly) BRCA1:c.247A>G (p.Ser83Gly) BRCA1:c.457A>G (p.Ser153Gly) BRCA1:c.316A>G (p.Ser106Gly) BRCA2:c.8188G>C (p.Ala2730Pro) PALB2:c.1001A>G (p.Tyr334Cys) PALB2:c.1250C>A (p.Ser417Tyr) PALB2:c.1317del (p.Phe440fs) PALB2:c.1699C>T (p.His567Tyr) PALB2:c.2200A>T (p.Thr734Ser) PALB2:c.2674G>A (p.Glu892Lys) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.298C>T (p.Leu100Phe) PALB2:c.3048del (p.Phe1016fs) PALB2:c.3128G>C (p.Gly1043Ala) PALB2:c.3428T>A (p.Leu1143His) PALB2:c.400G>A (p.Asp134Asn) PALB2:c.509_510del (p.Arg170fs) PALB2:c.656A>G (p.Asp219Gly) PALB2:c.721A>G (p.Asn241Asp) PALB2:c.757_758del (p.Leu253fs) PALB2:c.94C>G (p.Leu32Val) CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) NBN:c.1016T>C (p.Leu339Ser) NBN:c.1262T>C (p.Leu421Ser) APC:c.6527C>G (p.Pro2176Arg) APC:c.6503C>G (p.Pro2168Arg) APC:c.6398C>G (p.Pro2133Arg) APC:c.6389C>G (p.Pro2130Arg) APC:c.6350C>G (p.Pro2117Arg) APC:c.6296C>G (p.Pro2099Arg) APC:c.6200C>G (p.Pro2067Arg) APC:c.6170C>G (p.Pro2057Arg) APC:c.6095C>G (p.Pro2032Arg) APC:c.5993C>G (p.Pro1998Arg) APC:c.5624C>G (p.Pro1875Arg) APC:c.6911C>T (p.Ala2304Val) APC:c.6887C>T (p.Ala2296Val) APC:c.6782C>T (p.Ala2261Val) APC:c.6773C>T (p.Ala2258Val) APC:c.6734C>T (p.Ala2245Val) APC:c.6680C>T (p.Ala2227Val) APC:c.6584C>T (p.Ala2195Val) APC:c.6554C>T (p.Ala2185Val) APC:c.6479C>T (p.Ala2160Val) APC:c.6377C>T (p.Ala2126Val) APC:c.6008C>T (p.Ala2003Val) ATM:c.1010G>A (p.Arg337His) ATM:c.1564_1565del (p.Glu522fs) ATM:c.2333A>G (p.Asn778Ser) ATM:c.295A>G (p.Ser99Gly) ATM:c.334G>A (p.Ala112Thr) ATM:c.4066A>G (p.Asn1356Asp) ATM:c.4362A>C (p.Lys1454Asn) ATM:c.5089A>G (p.Thr1697Ala) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.610G>A (p.Gly204Arg) ATM:c.6176C>T (p.Thr2059Ile) ATM:c.641-7020G>A ATM:c.*39-7020G>A ATM:c.68G>A (p.Arg23Gln) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C ATM:c.8113G>A (p.Val2705Ile) ATM:c.641-26000C>T ATM:c.*38+149C>T ATM:c.9086G>A (p.Gly3029Asp) ATM:c.640+20497C>T ATM:c.694+20497C>T CDKN2A:c.-25C>T CDKN2A:c.-3-3644C>T CDKN2A:c.194-3644C>T CDKN2A:c.369T>A (p.His123Gln) CDKN2A:c.216T>A (p.His72Gln) CDKN2A:c.*13T>A CDKN2A:c.*292T>A MSH6:c.2173A>G (p.Ile725Val) MSH6:c.1783A>G (p.Ile595Val) MSH6:c.1267A>G (p.Ile423Val) MLH1:c.-647A>C MLH1:c.-760A>C MLH1:c.-657A>C MLH1:c.-560A>C MLH1:c.170A>C (p.Lys57Thr) MLH1:c.-723+2782A>C MLH1:c.-517+3009A>C MLH1:c.1436C>T (p.Ser479Leu) MLH1:c.707C>T (p.Ser236Leu) MLH1:c.656C>T (p.Ser219Leu) MLH1:c.1730C>T (p.Ser577Leu) MLH1:c.1631C>T (p.Ser544Leu) PTEN:c.882T>G PTEN:c.882T>G (p.Ser294Arg) PTEN:c.1401T>G (p.Ser467Arg) PTEN:c.291T>G (p.Ser97Arg) BARD1:c.1694G>A BARD1:c.1694G>A (p.Arg565His) BARD1:c.1637G>A (p.Arg546His) BARD1:c.341G>A (p.Arg114His) BARD1:c.284G>A (p.Arg95His) BARD1:c.365-15330G>A BARD1:c.2116A>G BARD1:c.2116A>G (p.Lys706Glu) BARD1:c.2059A>G (p.Lys687Glu) BARD1:c.763A>G (p.Lys255Glu) BARD1:c.706A>G (p.Lys236Glu) BARD1:c.577A>G (p.Lys193Glu) BARD1:c.2191C>G BARD1:c.2191C>G (p.Arg731Gly) BARD1:c.2134C>G (p.Arg712Gly) BARD1:c.838C>G (p.Arg280Gly) BARD1:c.781C>G (p.Arg261Gly) BARD1:c.652C>G (p.Arg218Gly) BARD1:c.2282G>A BARD1:c.2282G>A (p.Ser761Asn) BARD1:c.2225G>A (p.Ser742Asn) BARD1:c.929G>A (p.Ser310Asn) BARD1:c.872G>A (p.Ser291Asn) BARD1:c.743G>A (p.Ser248Asn) BARD1:c.620A>G BARD1:c.620A>G (p.Lys207Arg) BARD1:c.563A>G (p.Lys188Arg) BARD1:c.158+28158A>G BARD1:c.215+15807A>G BARD1:c.364+11043A>G BARD1:c.668A>G BARD1:c.668A>G (p.Glu223Gly) BARD1:c.611A>G (p.Glu204Gly) BARD1:c.158+28206A>G BARD1:c.215+15855A>G BARD1:c.364+11091A>G BARD1:c.776A>G BARD1:c.776A>G (p.Asp259Gly) BARD1:c.719A>G (p.Asp240Gly) BARD1:c.158+28314A>G BARD1:c.215+15963A>G BARD1:c.364+11199A>G PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G PMS2:c.1607C>T (p.Thr536Met) PMS2:c.1856C>T (p.Thr619Met) PMS2:c.1694C>T (p.Thr565Met) PMS2:c.1451C>T (p.Thr484Met) PMS2:c.1079C>T (p.Thr360Met) PMS2:c.1439C>T (p.Thr480Met) PMS2:c.2012C>T (p.Thr671Met) PMS2:c.1703C>T (p.Thr568Met) PMS2:c.2194G>A (p.Asp732Asn) PMS2:c.2032G>A (p.Asp678Asn) PMS2:c.1978G>A (p.Asp660Asn) PMS2:c.1789G>A (p.Asp597Asn) PMS2:c.1417G>A (p.Asp473Asn) PMS2:c.1777G>A (p.Asp593Asn) PMS2:c.2383G>A (p.Asp795Asn) PMS2:c.2041G>A (p.Asp681Asn) PMS2:c.2350G>A PMS2:c.215G>A (p.Gly72Glu) PMS2:c.620G>A (p.Gly207Glu) PMS2:c.302G>A (p.Gly101Glu) PMS2:c.-314G>A PMS2:c.311G>A (p.Gly104Glu) PMS2:c.133-1770G>A TP53:c.28G>A TP53:c.28G>A (p.Val10Ile) TP53:c.-207G>A TP53:c.-90G>A TP53:c.91G>A (p.Val31Ile) TP53:c.91G>A TP53:c.-27G>A MUTYH:c.583A>G (p.Ile195Val) MUTYH:c.667A>G (p.Ile223Val) MUTYH:c.628A>G (p.Ile210Val) MUTYH:c.616A>G (p.Ile206Val) MUTYH:c.307A>G (p.Ile103Val) MUTYH:c.238A>G (p.Ile80Val) MUTYH:c.658A>G (p.Ile220Val) NBN:c.1222A>G (p.Lys408Glu) NBN:c.976A>G (p.Lys326Glu) NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) NBN:c.542T>C (p.Phe181Ser) NBN:c.788T>C (p.Phe263Ser) RAD51D:c.992T>C (p.Ile331Thr) RAD51D:c.932T>C (p.Ile311Thr) RAD51D:c.596T>C (p.Ile199Thr) CDH1:c.1223C>T CDH1:c.-393C>T CDH1:c.-597C>T CDH1:c.1223C>T (p.Ala408Val) CDH1:c.1137+1135C>T CDH1:c.1360G>A CDH1:c.1177G>A (p.Val393Ile) CDH1:c.-189G>A CDH1:c.-460G>A CDH1:c.1360G>A (p.Val454Ile) CDH1:c.2413G>A CDH1:c.2230G>A (p.Asp744Asn) CDH1:c.865G>A (p.Asp289Asn) CDH1:c.448G>A (p.Asp150Asn) CDH1:c.2413G>A (p.Asp805Asn) SMAD4:c.424+5G>A CHEK2:c.-6G>A CHEK2:c.-783G>A CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1470C>A CHEK2:c.1599C>A (p.Asp533Glu) CHEK2:c.807C>A (p.Asp269Glu) CHEK2:c.1269C>A (p.Asp423Glu) CHEK2:c.1470C>A (p.Asp490Glu) CHEK2:c.1383C>A (p.Asp461Glu) CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G PALB2:c.1240C>T (p.Arg414Ter) PALB2:c.3456dup (p.Pro1153fs) PALB2:c.928A>G (p.Ser310Gly) BRIP1:c.1246C>T (p.Arg416Trp) BRIP1:c.1735C>T (p.Arg579Cys) BRIP1:c.2706A>G (p.Ile902Met) BRIP1:c.584T>C (p.Leu195Pro) BRIP1:c.790C>T (p.Arg264Trp) BRIP1:c.890A>G (p.Lys297Arg) NBN:c.1636G>A (p.Glu546Lys) NBN:c.1882G>A (p.Glu628Lys) PALB2:c.1054G>C (p.Glu352Gln) APC:c.3905C>T (p.Thr1302Met) APC:c.3800C>T (p.Thr1267Met) APC:c.3791C>T (p.Thr1264Met) APC:c.3752C>T (p.Thr1251Met) APC:c.3698C>T (p.Thr1233Met) APC:c.3602C>T (p.Thr1201Met) APC:c.3572C>T (p.Thr1191Met) APC:c.3497C>T (p.Thr1166Met) APC:c.3395C>T (p.Thr1132Met) APC:c.3026C>T (p.Thr1009Met) APC:c.3875C>T APC:c.4973G>A (p.Arg1658Gln) APC:c.4949G>A (p.Arg1650Gln) APC:c.4844G>A (p.Arg1615Gln) APC:c.4835G>A (p.Arg1612Gln) APC:c.4796G>A (p.Arg1599Gln) APC:c.4742G>A (p.Arg1581Gln) APC:c.4646G>A (p.Arg1549Gln) APC:c.4616G>A (p.Arg1539Gln) APC:c.4541G>A (p.Arg1514Gln) APC:c.4439G>A (p.Arg1480Gln) APC:c.4070G>A (p.Arg1357Gln) APC:c.3632T>G (p.Met1211Arg) APC:c.3329T>G (p.Met1110Arg) APC:c.3254T>G (p.Met1085Arg) APC:c.3578T>G (p.Met1193Arg) APC:c.3152T>G (p.Met1051Arg) APC:c.2783T>G (p.Met928Arg) APC:c.3686T>G (p.Met1229Arg) APC:c.3632T>G APC:c.3662T>G (p.Met1221Arg) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.659C>T (p.Ala220Val) BRIP1:c.2236A>G (p.Ile746Val) BRIP1:c.2220G>T (p.Gln740His) BRIP1:c.2440C>T (p.Arg814Cys) BRIP1:c.3444C>A (p.Asp1148Glu) MUTYH:c.953C>T (p.Ser318Leu) MUTYH:c.1037C>T (p.Ser346Leu) MUTYH:c.998C>T (p.Ser333Leu) MUTYH:c.986C>T (p.Ser329Leu) MUTYH:c.677C>T (p.Ser226Leu) MUTYH:c.608C>T (p.Ser203Leu) MUTYH:c.1028C>T (p.Ser343Leu) MUTYH:c.1424G>A (p.Gly475Glu) MUTYH:c.1508G>A (p.Gly503Glu) MUTYH:c.1469G>A (p.Gly490Glu) MUTYH:c.1457G>A (p.Gly486Glu) MUTYH:c.1148G>A (p.Gly383Glu) MUTYH:c.1079G>A (p.Gly360Glu) MUTYH:c.1499G>A (p.Gly500Glu) STK11:c.1088C>T (p.Thr363Ile) PALB2:c.3504C>G (p.Asp1168Glu) PALB2:c.3504C>G MLH1:c.931C>G (p.Gln311Glu) MLH1:c.202C>G (p.Gln68Glu) MLH1:c.151C>G (p.Gln51Glu) MLH1:c.1225C>G (p.Gln409Glu) MLH1:c.1126C>G (p.Gln376Glu) PALB2:c.1285A>G (p.Ile429Val) NBN:c.1802A>G NBN:c.1556A>G (p.Asp519Gly) NBN:c.1802A>G (p.Asp601Gly) APC:c.8233G>A (p.Gly2745Arg) APC:c.8128G>A (p.Gly2710Arg) APC:c.8119G>A (p.Gly2707Arg) APC:c.8080G>A (p.Gly2694Arg) APC:c.8026G>A (p.Gly2676Arg) APC:c.7930G>A (p.Gly2644Arg) APC:c.7900G>A (p.Gly2634Arg) APC:c.7825G>A (p.Gly2609Arg) APC:c.7723G>A (p.Gly2575Arg) APC:c.7354G>A (p.Gly2452Arg) APC:c.8203G>A PALB2:c.3094A>T PALB2:c.3094A>T (p.Met1032Leu) BRCA2:c.4943delC BRCA2:c.4943del (p.Ala1648fs) BRCA1:c.-109delT BRCA1:c.63delT (p.Cys21Trpfs) BRCA1:c.273delT (p.Cys91Trpfs) BRCA1:c.273del (p.Cys91fs) BRCA1:c.132del (p.Cys44fs) SMAD4:c.520A>G SMAD4:c.520A>G (p.Thr174Ala) ATM:c.4864G>C ATM:c.4864G>C (p.Glu1622Gln) BRIP1:c.1420C>A (p.Leu474Ile) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T PMS2:c.137G>T ATM:c.1021G>A (p.Val341Ile) BRCA1:c.4962A>C (p.Glu1654Asp) BRCA1:c.1863A>C (p.Glu621Asp) BRCA1:c.1860A>C (p.Glu620Asp) BRCA1:c.1665A>C (p.Glu555Asp) BRCA1:c.1662A>C (p.Glu554Asp) BRCA1:c.1656A>C (p.Glu552Asp) BRCA1:c.1653A>C (p.Glu551Asp) BRCA1:c.4664C>T (p.Pro1555Leu) BRCA1:c.4661C>T (p.Pro1554Leu) BRCA1:c.273del (p.Cys91TrpfsTer28) BRCA1:c.132del (p.Cys44TrpfsTer28) BRCA1:c.1529C>A (p.Ser510Ter) BRCA1:c.1388C>A (p.Ser463Ter) BRCA1:c.787+742C>A (n.787+742C>A) BRCA1:c.1682_1683del (p.Ser561TyrfsTer4) BRCA1:c.1541_1542del (p.Ser514TyrfsTer4) BRCA1:c.787+895_787+896del (n.787+895_787+896del) BRCA1:c.2090dup (p.Glu699ArgfsTer13) BRCA1:c.1949dup (p.Glu652ArgfsTer13) BRCA1:c.787+1303dup (n.787+1303dup) BRCA1:c.2272_2273del (p.Leu758AlafsTer3) BRCA1:c.2131_2132del (p.Leu711AlafsTer3) BRCA1:c.787+1485_787+1486del (n.787+1485_787+1486del) BRCA1:c.3582_3589del (p.His1195PhefsTer21) BRCA1:c.3441_3448del (p.His1148PhefsTer21) BRCA1:c.788-917_788-910del (n.788-917_788-910del) BRCA1:c.4128_4129del (p.Ser1377ArgfsTer3) BRCA1:c.3987_3988del (p.Ser1330ArgfsTer3) BRCA1:c.819_820del (p.Ser274ArgfsTer3) BRCA1:c.4676-2A>G (n.4676-2A>G) BRCA1:c.4535-2A>G (n.4535-2A>G) BRCA1:c.1364-2A>G (n.1364-2A>G) BRCA1:c.4739-2A>G (n.4739-2A>G) BRCA1:c.5172dup (p.Glu1725ArgfsTer7) BRCA1:c.5031dup (p.Glu1678ArgfsTer7) BRCA1:c.1860dup (p.Glu621ArgfsTer7) BRCA1:c.5235dup (p.Glu1746ArgfsTer7) BRCA2:c.110C>G (p.Ser37Ter) BRCA2:c.267_268del (p.Leu90ValfsTer10) BRCA2:c.414T>A (p.Cys138Ter) BRCA2:c.486del (p.Ser163ValfsTer9) BRCA2:c.489_490insG (p.Leu164ValfsTer19) BRCA2:c.748del (p.Val250Ter) BRCA2:c.4058_4062del (p.Glu1353GlyfsTer6) BRCA2:c.4103T>A (p.Leu1368Ter) BRCA2:c.4793del (p.Leu1598ProfsTer19) BRCA2:c.4943del (p.Ala1648GlufsTer22) BRCA2:c.6320del (p.Pro2107LeufsTer12) BRCA2:c.6451del (p.Val2151PhefsTer17) BRCA2:c.6590_6593del (p.Thr2197LysfsTer8) BRCA2:c.7259_7265del (p.Glu2420ValfsTer?) BRCA2:c.7414_7415del (p.Lys2472ValfsTer2) BRCA2:c.8175del (p.Trp2725CysfsTer8) | nucleaotide-sequencing | Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer:2015 | |||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||
BARD1 gene XRCC2 gene RINT1 gene RAD51 gene NBN gene RAD50 gene MRE11 gene CHEK2 gene ATM gene | Breast Carcinoma | 1297 | BARD1:c.281A>C BARD1:c.281A>C (p.Asp94Ala) BARD1:c.224A>C (p.Asp75Ala) BARD1:c.158+17032A>C BARD1:c.215+4681A>C CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) RAD50:c.3036+5G>A RAD50:c.3879C>T (p.Ile1293=) RAD50:c.3879C>T RAD50:c.2910C>T RAD50:c.2910C>T (p.Asp970=) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.1810C>T (p.Pro604Ser) ATM:c.295A>G (p.Ser99Gly) ATM:c.3925G>A (p.Ala1309Thr) ATM:c.4388T>G (p.Phe1463Cys) ATM:c.4424A>G (p.Tyr1475Cys) ATM:c.4949A>G (p.Asn1650Ser) ATM:c.5089A>G (p.Thr1697Ala) ATM:c.5882A>G (p.Tyr1961Cys) ATM:c.641-1208T>C ATM:c.*39-1208T>C ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.6067G>A (p.Gly2023Arg) ATM:c.641-6812C>T ATM:c.*39-6812C>T ATM:c.6919C>T (p.Leu2307Phe) ATM:c.641-17098G>A ATM:c.*38+9051G>A ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C ATM:c.7390T>C (p.Cys2464Arg) ATM:c.641-21225A>G ATM:c.*38+4924A>G ATM:c.7475T>G (p.Leu2492Arg) ATM:c.641-21310A>C ATM:c.*38+4839A>C ATM:c.7740A>C (p.Arg2580Ser) ATM:c.641-22918T>G ATM:c.*38+3231T>G ATM:c.9086G>A (p.Gly3029Asp) ATM:c.640+20497C>T ATM:c.694+20497C>T BARD1:c.2191C>G BARD1:c.2191C>G (p.Arg731Gly) BARD1:c.2134C>G (p.Arg712Gly) BARD1:c.838C>G (p.Arg280Gly) BARD1:c.781C>G (p.Arg261Gly) BARD1:c.652C>G (p.Arg218Gly) BARD1:c.2282G>A BARD1:c.2282G>A (p.Ser761Asn) BARD1:c.2225G>A (p.Ser742Asn) BARD1:c.929G>A (p.Ser310Asn) BARD1:c.872G>A (p.Ser291Asn) BARD1:c.743G>A (p.Ser248Asn) BARD1:c.33G>T BARD1:c.33G>T (p.Gln11His) BARD1:c.716T>A BARD1:c.716T>A (p.Leu239Gln) BARD1:c.659T>A (p.Leu220Gln) BARD1:c.158+28254T>A BARD1:c.215+15903T>A BARD1:c.364+11139T>A NBN:c.1222A>G (p.Lys408Glu) NBN:c.976A>G (p.Lys326Glu) NBN:c.179A>G (p.Asn60Ser) NBN:c.425A>G (p.Asn142Ser) MRE11:c.1811G>A (p.Arg604His) MRE11:c.1808G>A (p.Arg603His) MRE11:c.1783+1353G>A RAD50:c.1094G>A RAD50:c.1094G>A (p.Arg365Gln) RAD50:c.2397G>C (p.Gln799His) RAD50:c.2397G>C RAD50:c.2525T>C (p.Val842Ala) RAD50:c.2525T>C RAD50:c.2750C>T RAD50:c.2750C>T (p.Thr917Ile) RAD50:c.671G>A (p.Arg224His) RAD50:c.671G>A RAD50:c.943G>T RAD50:c.943G>T (p.Val315Leu) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) NBN:c.104T>C (p.Ile35Thr) NBN:c.-193T>C BARD1:c.722C>G BARD1:c.722C>G (p.Ser241Cys) BARD1:c.665C>G (p.Ser222Cys) BARD1:c.158+28260C>G BARD1:c.215+15909C>G BARD1:c.364+11145C>G ATM:c.2494C>T (p.Arg832Cys) RAD50:c.3790C>T (p.Leu1264Phe) RAD50:c.3790C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) RAD50:c.1336A>G (p.Lys446Glu) RAD50:c.1336A>G BARD1:c.2161G>A BARD1:c.808G>A (p.Ala270Thr) BARD1:c.751G>A (p.Ala251Thr) BARD1:c.2161G>A (p.Ala721Thr) BARD1:c.622G>A (p.Ala208Thr) BARD1:c.2104G>A (p.Ala702Thr) ATM:c.2021A>G (p.His674Arg) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) BARD1:c.1409A>G BARD1:c.1409A>G (p.Asn470Ser) BARD1:c.1352A>G (p.Asn451Ser) BARD1:c.159-15086A>G BARD1:c.216-15086A>G BARD1:c.364+24656A>G CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) ATM:c.5890A>G (p.Lys1964Glu) ATM:c.641-1216T>C ATM:c.*39-1216T>C ATM:c.936A>C (p.Leu312Phe) BARD1:c.1933T>C BARD1:c.1933T>C (p.Cys645Arg) BARD1:c.1876T>C (p.Cys626Arg) BARD1:c.580T>C (p.Cys194Arg) BARD1:c.523T>C (p.Cys175Arg) BARD1:c.394T>C (p.Cys132Arg) BARD1:c.346C>T BARD1:c.346C>T (p.His116Tyr) BARD1:c.289C>T (p.His97Tyr) BARD1:c.158+17097C>T BARD1:c.215+4746C>T BARD1:c.1835A>T BARD1:c.1835A>T (p.Asp612Val) BARD1:c.1778A>T (p.Asp593Val) BARD1:c.482A>T (p.Asp161Val) BARD1:c.425A>T (p.Asp142Val) BARD1:c.365-14627A>T CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G ATM:c.1464G>T (p.Trp488Cys) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) RAD50:c.3902A>G RAD50:c.3902A>G (p.Lys1301Arg) BARD1:c.1347A>G BARD1:c.1347A>G (p.Gln449=) BARD1:c.1290A>G (p.Gln430=) BARD1:c.159-16725A>G BARD1:c.216-16725A>G BARD1:c.364+23017A>G BARD1:c.1339C>G BARD1:c.1339C>G (p.Leu447Val) BARD1:c.1282C>G (p.Leu428Val) BARD1:c.159-16733C>G BARD1:c.216-16733C>G BARD1:c.364+23009C>G RAD50:c.756+7del XRCC2:c.271C>T XRCC2:c.271C>T (p.Arg91Trp) ATM:c.4724G>A (p.Arg1575His) ATM:c.6551G>C (p.Ser2184Thr) ATM:c.641-12328C>G ATM:c.*39-12328C>G CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A BARD1:c.1586G>A BARD1:c.1586G>A (p.Arg529Gln) BARD1:c.1529G>A (p.Arg510Gln) BARD1:c.233G>A (p.Arg78Gln) BARD1:c.176G>A (p.Arg59Gln) BARD1:c.365-22030G>A BARD1:c.1491A>G BARD1:c.1491A>G (p.Pro497=) BARD1:c.1434A>G (p.Pro478=) BARD1:c.159-15004A>G BARD1:c.216-15004A>G BARD1:c.364+24738A>G BARD1:c.632T>C BARD1:c.632T>C (p.Leu211Ser) BARD1:c.575T>C (p.Leu192Ser) BARD1:c.158+28170T>C BARD1:c.215+15819T>C BARD1:c.364+11055T>C BARD1:c.73G>C BARD1:c.73G>C (p.Ala25Pro) RAD50:c.785T>G RAD50:c.785T>G (p.Leu262Arg) RAD50:c.2047G>A (p.Val683Ile) RAD50:c.2047G>A NBN:c.808_809del NBN:c.562_563del (p.Val188fs) NBN:c.808_809del (p.Val270fs) ATM:c.7004C>T (p.Thr2335Ile) ATM:c.641-18602G>A ATM:c.*38+7547G>A ATM:c.8741T>C (p.Ile2914Thr) ATM:c.640+32085A>G ATM:c.695-18543A>G CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.474A>G CHEK2:c.603A>G (p.Ala201=) CHEK2:c.-304A>G CHEK2:c.474A>G (p.Ala158=) CHEK2:c.444+148A>G ATM:c.3295G>A (p.Asp1099Asn) BARD1:c.57G>C BARD1:c.57G>C (p.Glu19Asp) RAD50:c.3260A>G RAD50:c.3260A>G (p.His1087Arg) ATM:c.8773G>A (p.Gly2925Ser) ATM:c.640+32053C>T ATM:c.695-18575C>T CHEK2:c.847-10C>G CHEK2:c.646-10C>G CHEK2:c.184-10C>G CHEK2:c.976-10C>G ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T BARD1:c.1977A>G BARD1:c.1977A>G (p.Arg659=) BARD1:c.1920A>G (p.Arg640=) BARD1:c.624A>G (p.Arg208=) BARD1:c.567A>G (p.Arg189=) BARD1:c.438A>G (p.Arg146=) RAD50:c.3165-4A>T BARD1:c.690C>G BARD1:c.690C>G (p.Asp230Glu) BARD1:c.633C>G (p.Asp211Glu) BARD1:c.158+28228C>G BARD1:c.215+15877C>G BARD1:c.364+11113C>G RINT1:c.360-191A>G RINT1:c.384-191A>G RINT1:c.384-23A>G RINT1:c.1942T>C (p.Tyr648His) RINT1:c.1153T>C (p.Tyr385His) RINT1:c.1252T>C (p.Tyr418His) RINT1:c.2176T>C (p.Tyr726His) RINT1:c.2176T>C RINT1:c.*95C>T RINT1:c.*197C>T RINT1:c.*50C>T RINT1:c.1962G>A RINT1:c.1728G>A (p.Thr576=) RINT1:c.939G>A (p.Thr313=) RINT1:c.1038G>A (p.Thr346=) RINT1:c.1962G>A (p.Thr654=) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T BARD1:c.609A>C BARD1:c.609A>C (p.Gly203=) BARD1:c.552A>C (p.Gly184=) BARD1:c.158+28147A>C BARD1:c.215+15796A>C BARD1:c.364+11032A>C BARD1:c.1738G>A BARD1:c.1738G>A (p.Glu580Lys) BARD1:c.365-15286G>A BARD1:c.1681G>A (p.Glu561Lys) BARD1:c.385G>A (p.Glu129Lys) BARD1:c.328G>A (p.Glu110Lys) BARD1:c.2212A>G BARD1:c.2212A>G (p.Ile738Val) BARD1:c.2155A>G (p.Ile719Val) BARD1:c.859A>G (p.Ile287Val) BARD1:c.802A>G (p.Ile268Val) BARD1:c.673A>G (p.Ile225Val) BARD1:c.2279C>T BARD1:c.2279C>T (p.Ser760Leu) BARD1:c.2222C>T (p.Ser741Leu) BARD1:c.926C>T (p.Ser309Leu) BARD1:c.869C>T (p.Ser290Leu) BARD1:c.740C>T (p.Ser247Leu) RAD50:c.3278G>A RAD50:c.3278G>A (p.Arg1093Gln) NBN:c.1263T>G (p.Asn421Lys) NBN:c.1509T>G (p.Asn503Lys) RAD50:c.1456C>T RAD50:c.1456C>T (p.Arg486Cys) ATM:c.7999A>G (p.Met2667Val) ATM:c.641-24886T>C ATM:c.*38+1263T>C MRE11:c.1504C>T (p.Arg502Cys) RAD50:c.2837A>T (p.Asp946Val) RAD50:c.2837A>T RAD50:c.2173C>T RAD50:c.2173C>T (p.Arg725Trp) RAD50:c.3496C>T RAD50:c.3496C>T (p.Arg1166Trp) MRE11:c.826C>T (p.Pro276Ser) RAD50:c.2091C>T (p.Val697=) RAD50:c.2091C>T MRE11:c.1238A>G (p.Asn413Ser) RINT1:c.360-1846C>T RINT1:c.383+174C>T RINT1:c.*161C>T RINT1:c.2361G>A RINT1:c.2127G>A (p.Trp709Ter) RINT1:c.1338G>A (p.Trp446Ter) RINT1:c.1437G>A (p.Trp479Ter) RINT1:c.2361G>A (p.Trp787Ter) BARD1:c.90T>A BARD1:c.90T>A (p.Gly30=) ATM:c.7174C>T (p.Arg2392Trp) ATM:c.641-20034G>A ATM:c.*38+6115G>A RINT1:c.447T>C (p.His149=) RINT1:c.360-105T>C RINT1:c.384-105T>C RINT1:c.1856A>G (p.Asn619Ser) RINT1:c.1067A>G (p.Asn356Ser) RINT1:c.1166A>G (p.Asn389Ser) RINT1:c.2090A>G (p.Asn697Ser) RINT1:c.2090A>G ATM:c.5267C>G (p.Thr1756Arg) NBN:c.426T>C (p.Asn142=) NBN:c.180T>C (p.Asn60=) RAD50:c.885+5G>A BARD1:c.1955A>G BARD1:c.1955A>G (p.Glu652Gly) BARD1:c.1898A>G (p.Glu633Gly) BARD1:c.602A>G (p.Glu201Gly) BARD1:c.545A>G (p.Glu182Gly) BARD1:c.416A>G (p.Glu139Gly) CHEK2:c.381A>G CHEK2:c.510A>G (p.Glu170=) CHEK2:c.-397A>G CHEK2:c.381A>G (p.Glu127=) MRE11:c.37T>C (p.Phe13Leu) BARD1:c.57G>T BARD1:c.57G>T (p.Glu19Asp) CHEK2:c.793-17T>C CHEK2:c.592-17T>C CHEK2:c.130-17T>C CHEK2:c.922-17T>C BARD1:c.1429G>A BARD1:c.1429G>A (p.Val477Met) BARD1:c.1372G>A (p.Val458Met) BARD1:c.159-15066G>A BARD1:c.216-15066G>A BARD1:c.364+24676G>A MRE11:c.19C>G (p.Leu7Val) RINT1:c.360-143G>A RINT1:c.384-143G>A RINT1:c.409G>A (p.Glu137Lys) RINT1:c.2128C>T RINT1:c.1894C>T (p.Arg632Trp) RINT1:c.1105C>T (p.Arg369Trp) RINT1:c.1204C>T (p.Arg402Trp) RINT1:c.2128C>T (p.Arg710Trp) MRE11:c.39T>A (p.Phe13Leu) MRE11:c.39T>A RINT1:c.*108G>A RINT1:c.*210G>A RINT1:c.*63G>A RINT1:c.1715C>T (p.Pro572Leu) RINT1:c.926C>T (p.Pro309Leu) RINT1:c.1025C>T (p.Pro342Leu) RINT1:c.1949C>T (p.Pro650Leu) RINT1:c.1949C>T CHEK2:c.575C>T CHEK2:c.704C>T (p.Ser235Leu) CHEK2:c.-203C>T CHEK2:c.575C>T (p.Ser192Leu) CHEK2:c.445-71C>T RINT1:c.1449G>T RINT1:c.1215G>T (p.Met405Ile) RINT1:c.426G>T (p.Met142Ile) RINT1:c.525G>T (p.Met175Ile) RINT1:c.1449G>T (p.Met483Ile) MRE11:c.463C>T (p.Arg155Cys) BARD1:c.1613G>A BARD1:c.1613G>A (p.Ser538Asn) BARD1:c.1556G>A (p.Ser519Asn) BARD1:c.260G>A (p.Ser87Asn) BARD1:c.203G>A (p.Ser68Asn) BARD1:c.365-22003G>A | Multigene testing of moderate-risk genes: be mindful of the missense. Journal of medical genetics:2016 | ||||
RAD51C gene PTEN gene NBN gene BRIP1 gene BRCA2 gene BRCA1 gene BARD1 gene ATM gene APC gene CHEK2 gene PMS2 gene MSH6 gene MLH1 gene | Endometrial Carcinoma lynch syndrome hereditary endometrial carcinoma | 35 | NBN:c.643C>T NBN:c.397C>T (p.Arg133Trp) NBN:c.643C>T (p.Arg215Trp) BRCA2:c.7598C>G (p.Ser2533Cys) APC:c.1658C>T (p.Ser553Phe) APC:c.1634C>T (p.Ser545Phe) APC:c.1529C>T (p.Ser510Phe) APC:c.1520C>T (p.Ser507Phe) APC:c.1481C>T (p.Ser494Phe) APC:c.1427C>T (p.Ser476Phe) APC:c.1331C>T (p.Ser444Phe) APC:c.1301C>T (p.Ser434Phe) APC:c.1226C>T (p.Ser409Phe) APC:c.1124C>T (p.Ser375Phe) APC:c.755C>T (p.Ser252Phe) APC:c.1661T>C (p.Ile554Thr) APC:c.1556T>C (p.Ile519Thr) APC:c.1547T>C (p.Ile516Thr) APC:c.1508T>C (p.Ile503Thr) APC:c.1454T>C (p.Ile485Thr) APC:c.1358T>C (p.Ile453Thr) APC:c.1328T>C (p.Ile443Thr) APC:c.1253T>C (p.Ile418Thr) APC:c.1151T>C (p.Ile384Thr) APC:c.782T>C (p.Ile261Thr) APC:c.1631T>C MUTYH:c.1192C>T (p.Arg398Cys) MUTYH:c.1276C>T (p.Arg426Cys) MUTYH:c.1237C>T (p.Arg413Cys) MUTYH:c.1225C>T (p.Arg409Cys) MUTYH:c.916C>T (p.Arg306Cys) MUTYH:c.847C>T (p.Arg283Cys) MUTYH:c.1267C>T (p.Arg423Cys) MUTYH:c.11C>T (p.Pro4Leu) MUTYH:c.53C>T (p.Pro18Leu) MUTYH:c.-202C>T MUTYH:c.-261C>T MUTYH:c.-197C>T MUTYH:c.32G>A (p.Gly11Asp) MUTYH:c.74G>A (p.Gly25Asp) MUTYH:c.-181G>A MUTYH:c.-240G>A MUTYH:c.-176G>A MUTYH:c.737G>A (p.Arg246Gln) MUTYH:c.821G>A (p.Arg274Gln) MUTYH:c.782G>A (p.Arg261Gln) MUTYH:c.770G>A (p.Arg257Gln) MUTYH:c.461G>A (p.Arg154Gln) MUTYH:c.392G>A (p.Arg131Gln) MUTYH:c.812G>A (p.Arg271Gln) MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G SMAD4:c.1573A>G (p.Ile525Val) APC:c.6927A>T (p.Gln2309His) APC:c.6903A>T (p.Gln2301His) APC:c.6798A>T (p.Gln2266His) APC:c.6789A>T (p.Gln2263His) APC:c.6750A>T (p.Gln2250His) APC:c.6696A>T (p.Gln2232His) APC:c.6600A>T (p.Gln2200His) APC:c.6570A>T (p.Gln2190His) APC:c.6495A>T (p.Gln2165His) APC:c.6393A>T (p.Gln2131His) APC:c.6024A>T (p.Gln2008His) MSH6:c.3724_3726del (p.Arg1242del) MSH6:c.3334_3336del (p.Arg1112del) MSH6:c.2818_2820del (p.Arg940del) MLH1:c.-194_-193delinsTG MLH1:c.-953_-952delinsTG MLH1:c.-1066_-1065delinsTG MLH1:c.-975_-974delinsTG MLH1:c.-736_-735delinsTG MLH1:c.-634_-633delinsTG MLH1:c.-731_-730delinsTG MLH1:c.-963_-962delinsTG MLH1:c.91_92delinsTG (p.Ala31Cys) ATM:c.334G>A (p.Ala112Thr) ATM:c.4362A>C (p.Lys1454Asn) ATM:c.6176C>T (p.Thr2059Ile) ATM:c.641-7020G>A ATM:c.*39-7020G>A ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C BARD1:c.1690C>T BARD1:c.1690C>T (p.Gln564Ter) BARD1:c.1633C>T (p.Gln545Ter) BARD1:c.337C>T (p.Gln113Ter) BARD1:c.280C>T (p.Gln94Ter) BARD1:c.365-15334C>T BARD1:c.2116A>G BARD1:c.2116A>G (p.Lys706Glu) BARD1:c.2059A>G (p.Lys687Glu) BARD1:c.763A>G (p.Lys255Glu) BARD1:c.706A>G (p.Lys236Glu) BARD1:c.577A>G (p.Lys193Glu) BARD1:c.33G>T BARD1:c.33G>T (p.Gln11His) BARD1:c.668A>G BARD1:c.668A>G (p.Glu223Gly) BARD1:c.611A>G (p.Glu204Gly) BARD1:c.158+28206A>G BARD1:c.215+15855A>G BARD1:c.364+11091A>G PMS2:c.1085G>A (p.Gly362Asp) PMS2:c.1334G>A (p.Gly445Asp) PMS2:c.1172G>A (p.Gly391Asp) PMS2:c.929G>A (p.Gly310Asp) PMS2:c.557G>A (p.Gly186Asp) PMS2:c.917G>A (p.Gly306Asp) PMS2:c.1490G>A (p.Gly497Asp) PMS2:c.1181G>A (p.Gly394Asp) TP53:c.173C>G (p.Pro58Arg) TP53:c.56C>G (p.Pro19Arg) TP53:c.173C>G NBN:c.1034G>T (p.Gly345Val) NBN:c.788G>T (p.Gly263Val) NBN:c.1036G>A (p.Val346Met) NBN:c.790G>A (p.Val264Met) CDH1:c.1409C>T CDH1:c.1226C>T (p.Thr409Ile) CDH1:c.-140C>T CDH1:c.-411C>T CDH1:c.1409C>T (p.Thr470Ile) CDH1:c.2343A>T CDH1:c.2160A>T (p.Glu720Asp) CDH1:c.795A>T (p.Glu265Asp) CDH1:c.378A>T (p.Glu126Asp) CDH1:c.2343A>T (p.Glu781Asp) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T RAD51C:c.506T>C RAD51C:c.506T>C (p.Val169Ala) RAD51C:c.790G>A RAD51C:c.*14750G>A RAD51C:c.790G>A (p.Gly264Ser) RAD51C:c.*218G>A ATM:c.8734A>G (p.Arg2912Gly) ATM:c.640+32092T>C ATM:c.695-18536T>C MSH6:c.1730G>A (p.Arg577His) MSH6:c.1340G>A (p.Arg447His) MSH6:c.824G>A (p.Arg275His) PMS2:c.497T>C (p.Leu166Pro) PMS2:c.179T>C (p.Leu60Pro) PMS2:c.92T>C (p.Leu31Pro) PMS2:c.-388T>C PMS2:c.497T>C MSH2:c.2576_2584delAATCGCAAG MSH2:c.2576_2584del (p.Glu859_Gln861del) MSH2:c.2378_2386del (p.Glu793_Gln795del) MUTYH:c.397G>C (p.Asp133His) MUTYH:c.481G>C (p.Asp161His) MUTYH:c.442G>C (p.Asp148His) MUTYH:c.430G>C (p.Asp144His) MUTYH:c.121G>C (p.Asp41His) MUTYH:c.52G>C (p.Asp18His) MUTYH:c.472G>C (p.Asp158His) APC:c.6354TGC[5] (p.Ala2122dup) APC:c.5874TGC[5] (p.Ala1962dup) APC:c.6300TGC[5] (p.Ala2104dup) APC:c.5505TGC[5] (p.Ala1839dup) APC:c.6408TGC[5] (p.Ala2140dup) APC:c.6384TGC[5] (p.Ala2132dup) APC:c.6279TGC[5] (p.Ala2097dup) APC:c.6270TGC[5] (p.Ala2094dup) APC:c.6231TGC[5] (p.Ala2081dup) APC:c.6363_6365dupTGC PMS2:c.1663A>C (p.Lys555Gln) PMS2:c.1912A>C (p.Lys638Gln) PMS2:c.1750A>C (p.Lys584Gln) PMS2:c.1507A>C (p.Lys503Gln) PMS2:c.1135A>C (p.Lys379Gln) PMS2:c.1495A>C (p.Lys499Gln) PMS2:c.2068A>C (p.Lys690Gln) PMS2:c.1759A>C (p.Lys587Gln) BARD1:c.1409A>G BARD1:c.1409A>G (p.Asn470Ser) BARD1:c.1352A>G (p.Asn451Ser) BARD1:c.159-15086A>G BARD1:c.216-15086A>G BARD1:c.364+24656A>G PALB2:c.3449T>G (p.Leu1150Arg) NBN:c.1354A>C (p.Thr452Pro) NBN:c.1108A>C (p.Thr370Pro) PTEN:c.210-12_210-8delCTTTT PTEN:c.730-7_730-3del PTEN:c.210-7_210-3del PTEN:c.-541-7_-541-3del APC:c.7732T>G (p.Ser2578Ala) APC:c.7663T>G (p.Ser2555Ala) APC:c.7786T>G (p.Ser2596Ala) APC:c.7786T>G APC:c.7840T>G (p.Ser2614Ala) APC:c.7609T>G (p.Ser2537Ala) APC:c.7513T>G (p.Ser2505Ala) APC:c.7483T>G (p.Ser2495Ala) APC:c.7408T>G (p.Ser2470Ala) APC:c.7306T>G (p.Ser2436Ala) APC:c.6937T>G (p.Ser2313Ala) CHEK2:c.1489G>A CHEK2:c.1618G>A (p.Asp540Asn) CHEK2:c.826G>A (p.Asp276Asn) CHEK2:c.1288G>A (p.Asp430Asn) CHEK2:c.1489G>A (p.Asp497Asn) CHEK2:c.1402G>A (p.Asp468Asn) ATM:c.7381C>T (p.Arg2461Cys) ATM:c.641-21216G>A ATM:c.*38+4933G>A CDH1:c.2600A>G CDH1:c.2417A>G (p.Asn806Ser) CDH1:c.1052A>G (p.Asn351Ser) CDH1:c.635A>G (p.Asn212Ser) CDH1:c.2600A>G (p.Asn867Ser) MUTYH:c.1012C>T (p.Pro338Ser) MUTYH:c.1096C>T (p.Pro366Ser) MUTYH:c.1057C>T (p.Pro353Ser) MUTYH:c.1045C>T (p.Pro349Ser) MUTYH:c.736C>T (p.Pro246Ser) MUTYH:c.667C>T (p.Pro223Ser) MUTYH:c.1087C>T (p.Pro363Ser) MSH2:c.1530G>C (p.Gln510His) MSH2:c.1332G>C (p.Gln444His) MSH2:c.1530G>C ATM:c.2096A>G (p.Glu699Gly) APC:c.7628G>A (p.Arg2543His) APC:c.7604G>A (p.Arg2535His) APC:c.7499G>A (p.Arg2500His) APC:c.7490G>A (p.Arg2497His) APC:c.7451G>A (p.Arg2484His) APC:c.7397G>A (p.Arg2466His) APC:c.7301G>A (p.Arg2434His) APC:c.7271G>A (p.Arg2424His) APC:c.7196G>A (p.Arg2399His) APC:c.7094G>A (p.Arg2365His) APC:c.6725G>A (p.Arg2242His) PMS2:c.959C>T (p.Ser320Phe) PMS2:c.1208C>T (p.Ser403Phe) PMS2:c.1046C>T (p.Ser349Phe) PMS2:c.803C>T (p.Ser268Phe) PMS2:c.431C>T (p.Ser144Phe) PMS2:c.791C>T (p.Ser264Phe) PMS2:c.1364C>T (p.Ser455Phe) PMS2:c.1055C>T (p.Ser352Phe) PMS2:c.360C>A (p.Tyr120Ter) PMS2:c.765C>A (p.Tyr255Ter) PMS2:c.447C>A (p.Tyr149Ter) PMS2:c.-169C>A PMS2:c.192C>A (p.Tyr64Ter) PMS2:c.456C>A (p.Tyr152Ter) ATM:c.8596C>G (p.Leu2866Val) ATM:c.641-38219G>C ATM:c.695-11998G>C BRIP1:c.3349T>G (p.Ser1117Ala) BRIP1:c.689C>T (p.Ser230Leu) APC:c.3490C>T (p.Arg1164Cys) APC:c.3466C>T (p.Arg1156Cys) APC:c.3361C>T (p.Arg1121Cys) APC:c.3352C>T (p.Arg1118Cys) APC:c.3313C>T (p.Arg1105Cys) APC:c.3259C>T (p.Arg1087Cys) APC:c.3163C>T (p.Arg1055Cys) APC:c.3133C>T (p.Arg1045Cys) APC:c.3058C>T (p.Arg1020Cys) APC:c.2956C>T (p.Arg986Cys) APC:c.2587C>T (p.Arg863Cys) PALB2:c.3103A>G (p.Ile1035Val) APC:c.1168G>A (p.Ala390Thr) APC:c.1159G>A (p.Ala387Thr) APC:c.1066G>A (p.Ala356Thr) APC:c.970G>A (p.Ala324Thr) APC:c.940G>A (p.Ala314Thr) APC:c.865G>A (p.Ala289Thr) APC:c.763G>A (p.Ala255Thr) APC:c.394G>A (p.Ala132Thr) APC:c.1243G>A BARD1:c.17A>G BARD1:c.17A>G (p.Gln6Arg) PALB2:c.149A>C (p.Lys50Thr) MLH1:c.1896+831C>T MLH1:c.1732-3C>T MLH1:c.823-3C>T MLH1:c.1174-3C>T MLH1:c.1798-3C>T MLH1:c.1603-3C>T MSH2:c.160G>A MSH2:c.160G>A (p.Ala54Thr) MSH2:c.-30-9G>A MSH6:c.942C>G (p.Ser314Arg) MSH6:c.552C>G (p.Ser184Arg) MSH6:c.36C>G (p.Ser12Arg) PALB2:c.2815T>G (p.Leu939Val) BRCA1:c.2964T>A (p.Phe988Leu) BRCA1:c.2967T>A (p.Phe989Leu) BRCA1:c.2958T>A (p.Phe986Leu) STK11:c.1211C>T (p.Ser404Phe) BARD1:c.1028C>T BARD1:c.1028C>T (p.Thr343Ile) BARD1:c.971C>T (p.Thr324Ile) BARD1:c.159-28291C>T BARD1:c.215+16215C>T BARD1:c.364+11451C>T NBN:c.1317A>G (p.Ile439Met) NBN:c.1071A>G (p.Ile357Met) RAD51D:c.413A>G (p.Asn138Ser) RAD51D:c.473A>G (p.Asn158Ser) RAD51D:c.145-574A>G CHEK2:c.915A>C CHEK2:c.1044A>C (p.Glu348Asp) CHEK2:c.252A>C (p.Glu84Asp) CHEK2:c.714A>C (p.Glu238Asp) CHEK2:c.915A>C (p.Glu305Asp) MSH6:c.188C>G (p.Ser63Cys) MSH6:c.-549C>G NBN:c.-286del NBN:c.11del (p.Leu4fs) MSH2:c.1709A>G MSH2:c.1709A>G (p.Tyr570Cys) MSH2:c.1511A>G (p.Tyr504Cys) ATM:c.2449G>C (p.Asp817His) CDKN2A:c.400G>C (p.Ala134Pro) CDKN2A:c.247G>C (p.Ala83Pro) CDKN2A:c.*44G>C CDKN2A:c.*323G>C RAD51C:c.*8071C>T RAD51C:c.640C>T RAD51C:c.640C>T (p.Arg214Cys) RAD51C:c.*68C>T STK11:c.375-7G>A BRCA2:c.2014A>G (p.Arg672Gly) RAD51C:c.968T>G RAD51C:c.968T>G (p.Leu323Trp) PALB2:c.557A>T (p.Asn186Ile) PALB2:c.3257G>A (p.Arg1086Gln) MUTYH:c.1484G>A (p.Arg495His) MUTYH:c.1400G>A (p.Arg467His) MUTYH:c.1445G>A (p.Arg482His) MUTYH:c.1433G>A (p.Arg478His) MUTYH:c.1124G>A (p.Arg375His) MUTYH:c.1055G>A (p.Arg352His) MUTYH:c.1475G>A (p.Arg492His) PMS2:c.578A>G (p.Asp193Gly) PMS2:c.983A>G (p.Asp328Gly) PMS2:c.665A>G (p.Asp222Gly) PMS2:c.50A>G (p.Asp17Gly) PMS2:c.410A>G (p.Asp137Gly) PMS2:c.674A>G (p.Asp225Gly) MUTYH:c.1006C>T (p.Arg336Cys) MUTYH:c.1090C>T (p.Arg364Cys) MUTYH:c.1051C>T (p.Arg351Cys) MUTYH:c.1039C>T (p.Arg347Cys) MUTYH:c.730C>T (p.Arg244Cys) MUTYH:c.661C>T (p.Arg221Cys) MUTYH:c.1081C>T (p.Arg361Cys) BARD1:c.1360C>G BARD1:c.1360C>G (p.Pro454Ala) BARD1:c.1303C>G (p.Pro435Ala) BARD1:c.159-16712C>G BARD1:c.216-16712C>G BARD1:c.364+23030C>G ATM:c.76G>C (p.Glu26Gln) PMS2:c.762A>G (p.Ile254Met) PMS2:c.675A>G (p.Ile225Met) PMS2:c.147A>G (p.Ile49Met) PMS2:c.507A>G (p.Ile169Met) PMS2:c.1080A>G (p.Ile360Met) PMS2:c.771A>G (p.Ile257Met) PMS2:c.583+2109A>G PMS2:c.988+2109A>G PMS2:c.1080A>G PMS2:c.917T>C (p.Val306Ala) PMS2:c.599T>C (p.Val200Ala) PMS2:c.512T>C (p.Val171Ala) PMS2:c.-17T>C PMS2:c.344T>C (p.Val115Ala) PMS2:c.608T>C (p.Val203Ala) PMS2:c.917T>C ATM:c.4702C>T (p.His1568Tyr) BRIP1:c.2114_2118del (p.Lys705fs) BRIP1:c.2662C>T (p.His888Tyr) MSH6:c.1403G>C (p.Arg468Pro) MSH6:c.1013G>C (p.Arg338Pro) MSH6:c.497G>C (p.Arg166Pro) MSH6:c.2032G>C (p.Glu678Gln) MSH6:c.1642G>C (p.Glu548Gln) MSH6:c.1126G>C (p.Glu376Gln) MSH6:c.1525G>C (p.Val509Leu) MSH6:c.1135G>C (p.Val379Leu) MSH6:c.619G>C (p.Val207Leu) RAD51D:c.407A>G (p.Asp136Gly) RAD51D:c.467A>G (p.Asp156Gly) RAD51D:c.145-580A>G MSH6:c.1350_1351del (p.Phe451fs) MSH6:c.960_961del (p.Phe321fs) MSH6:c.444_445del (p.Phe149fs) MSH2:c.2267C>G MSH2:c.2267C>G (p.Thr756Ser) MSH2:c.2069C>G (p.Thr690Ser) NBN:c.1255A>C (p.Asn419His) NBN:c.1009A>C (p.Asn337His) RAD51C:c.899C>T RAD51C:c.899C>T (p.Ala300Val) PMS2:c.-8C>T PMS2:c.398C>T (p.Thr133Ile) PMS2:c.80C>T (p.Thr27Ile) PMS2:c.-487C>T PMS2:c.89C>T (p.Thr30Ile) BRCA2:c.3800A>G (p.Asp1267Gly) BRCA1:c.1499_1500delGCinsAA (p.Ser500Lys) BRCA1:c.1496_1497delGCinsAA (p.Ser499Lys) BRIP1:c.2806G>A (p.Glu936Lys) | Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc:2016 | ||||
NBN gene FANCM gene BRCA1 gene BARD1 gene MSH6 gene CHEK2 gene BRCA2 gene ATM gene | Pancreatic carcinoma Endometrial Carcinoma Pancreatic Ductal Adenocarcinoma | 96 | ATM:c.7327C>T (p.Arg2443Ter) ATM:c.641-21162G>A ATM:c.*38+4987G>A RAD50:c.1663A>G RAD50:c.1663A>G (p.Ile555Val) RAD50:c.980G>A RAD50:c.980G>A (p.Arg327His) BRCA2:c.2803G>C (p.Asp935His) BRCA2:c.6373dup (p.Thr2125fs) BRCA2:c.865A>G (p.Asn289Asp) CDKN2A:c.373G>C (p.Asp125His) CDKN2A:c.220G>C (p.Asp74His) CDKN2A:c.*17G>C CDKN2A:c.*296G>C PMS2:c.1283G>T (p.Arg428Leu) PMS2:c.1532G>T (p.Arg511Leu) PMS2:c.1370G>T (p.Arg457Leu) PMS2:c.1127G>T (p.Arg376Leu) PMS2:c.755G>T (p.Arg252Leu) PMS2:c.1115G>T (p.Arg372Leu) PMS2:c.1688G>T (p.Arg563Leu) PMS2:c.1379G>T (p.Arg460Leu) PMS2:c.-164A>G PMS2:c.-354A>G PMS2:c.-833A>G PMS2:c.52A>G (p.Ile18Val) PMS2:c.-433A>G PMS2:c.-52-1945A>G PMS2:c.-242-1945A>G PMS2:c.52A>G BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.2680G>A (p.Val894Ile) BRCA2:c.7090G>A (p.Glu2364Lys) MSH6:c.1508C>G (p.Ser503Cys) MSH6:c.1118C>G (p.Ser373Cys) MSH6:c.602C>G (p.Ser201Cys) MSH6:c.1508C>G MSH6:c.3037AAG[1] (p.Lys1014del) MSH6:c.2647AAG[1] (p.Lys884del) MSH6:c.2131AAG[1] (p.Lys712del) MSH6:c.3259C>T (p.Pro1087Ser) MSH6:c.2869C>T (p.Pro957Ser) MSH6:c.2353C>T (p.Pro785Ser) MSH6:c.3804dup (p.Cys1269fs) MSH6:c.3414dup (p.Cys1139fs) MSH6:c.2898dup (p.Cys967fs) PMS2:c.1990C>T (p.Arg664Trp) PMS2:c.2239C>T (p.Arg747Trp) PMS2:c.2077C>T (p.Arg693Trp) PMS2:c.2023C>T (p.Arg675Trp) PMS2:c.1834C>T (p.Arg612Trp) PMS2:c.1462C>T (p.Arg488Trp) PMS2:c.1822C>T (p.Arg608Trp) PMS2:c.2428C>T (p.Arg810Trp) PMS2:c.2086C>T (p.Arg696Trp) PALB2:c.1001A>G (p.Tyr334Cys) MRE11:c.1475C>A (p.Ala492Asp) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A PMS2:c.1607C>T (p.Thr536Met) PMS2:c.1856C>T (p.Thr619Met) PMS2:c.1694C>T (p.Thr565Met) PMS2:c.1451C>T (p.Thr484Met) PMS2:c.1079C>T (p.Thr360Met) PMS2:c.1439C>T (p.Thr480Met) PMS2:c.2012C>T (p.Thr671Met) PMS2:c.1703C>T (p.Thr568Met) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A RAD50:c.280A>C RAD50:c.280A>C (p.Ile94Leu) RAD50:c.671G>A (p.Arg224His) RAD50:c.671G>A CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T BRIP1:c.790C>T (p.Arg264Trp) RAD51C:c.790G>A RAD51C:c.*14750G>A RAD51C:c.790G>A (p.Gly264Ser) RAD51C:c.*218G>A RAD51C:c.859A>G RAD51C:c.859A>G (p.Thr287Ala) MSH2:c.2615A>G MSH2:c.2615A>G (p.Lys872Arg) MSH2:c.2417A>G (p.Lys806Arg) BARD1:c.1921C>T BARD1:c.1921C>T (p.Arg641Ter) BARD1:c.1864C>T (p.Arg622Ter) BARD1:c.568C>T (p.Arg190Ter) BARD1:c.511C>T (p.Arg171Ter) BARD1:c.382C>T (p.Arg128Ter) CDH1:c.2572G>C CDH1:c.2389G>C (p.Asp797His) CDH1:c.1024G>C (p.Asp342His) CDH1:c.607G>C (p.Asp203His) CDH1:c.2572G>C (p.Asp858His) PALB2:c.1189A>T (p.Thr397Ser) PMS2:c.1087G>A (p.Val363Met) PMS2:c.925G>A (p.Val309Met) PMS2:c.838G>A (p.Val280Met) PMS2:c.682G>A (p.Val228Met) PMS2:c.310G>A (p.Val104Met) PMS2:c.670G>A (p.Val224Met) PMS2:c.1243G>A (p.Val415Met) PMS2:c.934G>A (p.Val312Met) PMS2:c.1243G>A ATM:c.2880del (p.Leu961fs) PALB2:c.100C>T (p.Arg34Cys) PMS2:c.2026A>G (p.Thr676Ala) PMS2:c.1864A>G (p.Thr622Ala) PMS2:c.1777A>G (p.Thr593Ala) PMS2:c.1621A>G (p.Thr541Ala) PMS2:c.1249A>G (p.Thr417Ala) PMS2:c.1609A>G (p.Thr537Ala) PMS2:c.2182A>G (p.Thr728Ala) PMS2:c.1873A>G (p.Thr625Ala) PMS2:c.2182A>G FANCM:c.2586_2589delAAAA FANCM:c.2508_2511del (p.Lys837fs) FANCM:c.2586_2589del (p.Lys863fs) BARD1:c.1685C>T (p.Thr562Ile) BARD1:c.1628C>T (p.Thr543Ile) BARD1:c.332C>T (p.Thr111Ile) BARD1:c.275C>T (p.Thr92Ile) BARD1:c.365-15339C>T BARD1:c.1685C>T ATM:c.6013C>A (p.Leu2005Ile) ATM:c.641-6758G>T ATM:c.*39-6758G>T MSH2:c.905T>C MSH2:c.905T>C (p.Leu302Ser) MSH2:c.707T>C (p.Leu236Ser) CDKN2A:c.272T>A (p.Leu91Gln) CDKN2A:c.315T>A (p.Pro105=) CDKN2A:c.119T>A (p.Leu40Gln) CDKN2A:c.*195T>A MLH1:c.1538T>C (p.Ile513Thr) MLH1:c.809T>C (p.Ile270Thr) MLH1:c.758T>C (p.Ile253Thr) MLH1:c.1832T>C (p.Ile611Thr) MLH1:c.1733T>C (p.Ile578Thr) MLH1:c.1732-898T>C | Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology:2016 | ||||
PALB2 gene ATM gene CHEK2 gene | hboc cancer hereditary breast and ovarian cancer | 583 | PMS2:c.1781_1782del (p.Leu594fs) PMS2:c.2030_2031del (p.Leu677fs) PMS2:c.1868_1869del (p.Leu623fs) PMS2:c.1625_1626del (p.Leu542fs) PMS2:c.1253_1254del (p.Leu418fs) PMS2:c.1613_1614del (p.Leu538fs) PMS2:c.2186_2187del (p.Leu729fs) PMS2:c.1877_1878del (p.Leu626fs) PALB2:c.2835-1G>C CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A ATM:c.4396C>T (p.Arg1466Ter) PALB2:c.1671_1674del PALB2:c.1671_1674del (p.Ile558fs) BRIP1:c.128_131del BRIP1:c.128_131del (p.Leu43fs) ATM:c.7517_7520del ATM:c.7517_7520delGAGA ATM:c.*1389_*1390TC[1] ATM:c.641-22374_641-22371del ATM:c.*38+3775_*38+3778del | nucleaotide-sequencing | The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families? Oncotarget:2017 | |||
MUTYH gene APC gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene | Colorectal Carcinoma colorectal cancer type x hereditary colorectal cancer | 1231 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) MLH1:c.382C>T (p.Arg128Ter) MLH1:c.-141C>T MLH1:c.-254C>T MLH1:c.-151C>T MLH1:c.676C>T (p.Arg226Ter) MLH1:c.577C>T (p.Arg193Ter) MUTYH:c.1192C>T (p.Arg398Cys) MUTYH:c.1276C>T (p.Arg426Cys) MUTYH:c.1237C>T (p.Arg413Cys) MUTYH:c.1225C>T (p.Arg409Cys) MUTYH:c.916C>T (p.Arg306Cys) MUTYH:c.847C>T (p.Arg283Cys) MUTYH:c.1267C>T (p.Arg423Cys) MUTYH:c.1336C>T (p.Arg446Cys) MUTYH:c.1420C>T (p.Arg474Cys) MUTYH:c.1381C>T (p.Arg461Cys) MUTYH:c.1369C>T (p.Arg457Cys) MUTYH:c.1060C>T (p.Arg354Cys) MUTYH:c.991C>T (p.Arg331Cys) MUTYH:c.1411C>T (p.Arg471Cys) MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G MSH6:c.2057G>A (p.Gly686Asp) MSH6:c.1667G>A (p.Gly556Asp) MSH6:c.1151G>A (p.Gly384Asp) MSH6:c.2150_2153del (p.Val717fs) MSH6:c.1760_1763del (p.Val587fs) MSH6:c.1244_1247del (p.Val415fs) MSH6:c.2931C>G (p.Tyr977Ter) MSH6:c.2541C>G (p.Tyr847Ter) MSH6:c.2025C>G (p.Tyr675Ter) MSH6:c.3013C>T (p.Arg1005Ter) MSH6:c.2623C>T (p.Arg875Ter) MSH6:c.2107C>T (p.Arg703Ter) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MSH6:c.467C>G (p.Ser156Ter) MSH6:c.-436C>G MSH6:c.-279-2708C>G MSH6:c.238-2708C>G MSH6:c.718C>T (p.Arg240Ter) MSH6:c.328C>T (p.Arg110Ter) MSH6:c.-189C>T MSH6:c.884A>G (p.Lys295Arg) MSH6:c.494A>G (p.Lys165Arg) MSH6:c.-23A>G MLH1:c.982C>T (p.Gln328Ter) MLH1:c.253C>T (p.Gln85Ter) MLH1:c.202C>T (p.Gln68Ter) MLH1:c.1276C>T (p.Gln426Ter) MLH1:c.1177C>T (p.Gln393Ter) MLH1:c.935T>G (p.Leu312Arg) MLH1:c.884T>G (p.Leu295Arg) MLH1:c.1859T>G (p.Leu620Arg) MLH1:c.1793T>G (p.Leu598Arg) MLH1:c.1897-326T>G MLH1:c.1896+895T>G MLH1:c.1958T>G (p.Leu653Arg) MLH1:c.381-2A>G MLH1:c.-446-2A>G MLH1:c.-251-2A>G MLH1:c.282-2A>G MLH1:c.-343-2A>G MLH1:c.87-2A>G MLH1:c.-354-2A>G MLH1:c.-282G>A MLH1:c.-1041G>A MLH1:c.-1154G>A MLH1:c.-1063G>A MLH1:c.-824G>A MLH1:c.-722G>A MLH1:c.-819G>A MLH1:c.-1051G>A MLH1:c.3G>A (p.Met1Ile) MLH1:c.589-2A>G MLH1:c.-238-2A>G MLH1:c.-135-2A>G MLH1:c.490-2A>G MLH1:c.295-2A>G MSH2:c.1759+1G>A MSH2:c.1561+1G>A MSH2:c.1861C>T MSH2:c.1861C>T (p.Arg621Ter) MSH2:c.1663C>T (p.Arg555Ter) MSH2:c.1A>C (p.Met1Leu) MSH2:c.-31+17A>C MSH2:c.1A>C MSH2:c.2131C>T MSH2:c.2131C>T (p.Arg711Ter) MSH2:c.1933C>T (p.Arg645Ter) MSH2:c.279_281del MSH2:c.273TCT[2] (p.Leu94del) MSH2:c.75TCT[2] (p.Leu28del) PALB2:c.3428T>A (p.Leu1143His) BLM:c.191A>T BLM:c.191A>T (p.Asp64Val) BLM:c.-1101A>T BLM:c.3991A>G BLM:c.3991A>G (p.Arg1331Gly) BLM:c.3598A>G (p.Arg1200Gly) BLM:c.2866A>G (p.Arg956Gly) CDKN2A:c.369T>A (p.His123Gln) CDKN2A:c.216T>A (p.His72Gln) CDKN2A:c.*13T>A CDKN2A:c.*292T>A MSH6:c.2419G>A (p.Glu807Lys) MSH6:c.2029G>A (p.Glu677Lys) MSH6:c.1513G>A (p.Glu505Lys) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A AXIN2:c.203G>A AXIN2:c.203G>A (p.Arg68Gln) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CDH1:c.164T>G CDH1:c.164T>G (p.Val55Gly) CDH1:c.-1452T>G CDH1:c.-1656T>G APC:c.5063C>T (p.Ala1688Val) APC:c.5039C>T (p.Ala1680Val) APC:c.4934C>T (p.Ala1645Val) APC:c.4925C>T (p.Ala1642Val) APC:c.4886C>T (p.Ala1629Val) APC:c.4832C>T (p.Ala1611Val) APC:c.4736C>T (p.Ala1579Val) APC:c.4706C>T (p.Ala1569Val) APC:c.4631C>T (p.Ala1544Val) APC:c.4529C>T (p.Ala1510Val) APC:c.4160C>T (p.Ala1387Val) APC:c.7679A>G (p.Asn2560Ser) APC:c.7655A>G (p.Asn2552Ser) APC:c.7550A>G (p.Asn2517Ser) APC:c.7541A>G (p.Asn2514Ser) APC:c.7502A>G (p.Asn2501Ser) APC:c.7448A>G (p.Asn2483Ser) APC:c.7352A>G (p.Asn2451Ser) APC:c.7322A>G (p.Asn2441Ser) APC:c.7247A>G (p.Asn2416Ser) APC:c.7145A>G (p.Asn2382Ser) APC:c.6776A>G (p.Asn2259Ser) APC:c.7963A>G (p.Ile2655Val) APC:c.8212A>G (p.Ile2738Val) APC:c.7888A>G (p.Ile2630Val) APC:c.8266A>G (p.Ile2756Val) APC:c.7786A>G (p.Ile2596Val) APC:c.8320A>G (p.Ile2774Val) APC:c.7417A>G (p.Ile2473Val) APC:c.8296A>G (p.Ile2766Val) APC:c.8266A>G APC:c.8191A>G (p.Ile2731Val) APC:c.8182A>G (p.Ile2728Val) MUTYH:c.229G>A (p.Asp77Asn) MUTYH:c.313G>A (p.Asp105Asn) MUTYH:c.274G>A (p.Asp92Asn) MUTYH:c.262G>A (p.Asp88Asn) MUTYH:c.-48G>A MUTYH:c.-43G>A MUTYH:c.304G>A (p.Asp102Asn) MUTYH:c.616G>A (p.Val206Met) MUTYH:c.700G>A (p.Val234Met) MUTYH:c.661G>A (p.Val221Met) MUTYH:c.649G>A (p.Val217Met) MUTYH:c.340G>A (p.Val114Met) MUTYH:c.271G>A (p.Val91Met) MUTYH:c.691G>A (p.Val231Met) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.1141A>G CHEK2:c.1270A>G (p.Met424Val) CHEK2:c.478A>G (p.Met160Val) CHEK2:c.940A>G (p.Met314Val) CHEK2:c.1141A>G (p.Met381Val) CHEK2:c.1054A>G (p.Met352Val) APC:c.4532C>T (p.Thr1511Met) APC:c.4508C>T (p.Thr1503Met) APC:c.4403C>T (p.Thr1468Met) APC:c.4394C>T (p.Thr1465Met) APC:c.4355C>T (p.Thr1452Met) APC:c.4301C>T (p.Thr1434Met) APC:c.4205C>T (p.Thr1402Met) APC:c.4175C>T (p.Thr1392Met) APC:c.4100C>T (p.Thr1367Met) APC:c.3998C>T (p.Thr1333Met) APC:c.3629C>T (p.Thr1210Met) FLCN:c.634C>T (p.Arg212Trp) FLCN:c.580C>T (p.Arg194Trp) FLCN:c.580C>T CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) SMAD4:c.1245_1248del SMAD4:c.1245_1248del (p.Asp415fs) MSH6:c.650A>G (p.Asp217Gly) MSH6:c.260A>G (p.Asp87Gly) MSH6:c.-257A>G MUTYH:c.1130C>T (p.Pro377Leu) MUTYH:c.1214C>T (p.Pro405Leu) MUTYH:c.1175C>T (p.Pro392Leu) MUTYH:c.1163C>T (p.Pro388Leu) MUTYH:c.854C>T (p.Pro285Leu) MUTYH:c.785C>T (p.Pro262Leu) MUTYH:c.1205C>T (p.Pro402Leu) MUTYH:c.991C>A (p.Pro331Thr) MUTYH:c.1075C>A (p.Pro359Thr) MUTYH:c.1036C>A (p.Pro346Thr) MUTYH:c.1024C>A (p.Pro342Thr) MUTYH:c.715C>A (p.Pro239Thr) MUTYH:c.646C>A (p.Pro216Thr) MUTYH:c.1066C>A (p.Pro356Thr) MSH6:c.1636G>C (p.Glu546Gln) MSH6:c.1246G>C (p.Glu416Gln) MSH6:c.730G>C (p.Glu244Gln) MLH1:c.1039-1G>A MLH1:c.-36-1G>A MLH1:c.316-1G>A MLH1:c.940-1G>A MLH1:c.745-1G>A MSH6:c.2417C>G (p.Ser806Cys) MSH6:c.2027C>G (p.Ser676Cys) MSH6:c.1511C>G (p.Ser504Cys) APC:c.6153C>G (p.Asp2051Glu) APC:c.6129C>G (p.Asp2043Glu) APC:c.6024C>G (p.Asp2008Glu) APC:c.6015C>G (p.Asp2005Glu) APC:c.5976C>G (p.Asp1992Glu) APC:c.5922C>G (p.Asp1974Glu) APC:c.5826C>G (p.Asp1942Glu) APC:c.5796C>G (p.Asp1932Glu) APC:c.5721C>G (p.Asp1907Glu) APC:c.5619C>G (p.Asp1873Glu) APC:c.5250C>G (p.Asp1750Glu) PALB2:c.3404G>A (p.Gly1135Glu) CHEK2:c.482A>G CHEK2:c.611A>G (p.Glu204Gly) CHEK2:c.-296A>G CHEK2:c.482A>G (p.Glu161Gly) CHEK2:c.444+156A>G MUTYH:c.919C>G (p.Pro307Ala) MUTYH:c.640C>G (p.Pro214Ala) MUTYH:c.916C>G (p.Pro306Ala) MUTYH:c.571C>G (p.Pro191Ala) MUTYH:c.1000C>G (p.Pro334Ala) MUTYH:c.991C>G (p.Pro331Ala) MUTYH:c.961C>G (p.Pro321Ala) MUTYH:c.949C>G (p.Pro317Ala) MSH6:c.2079dup (p.Cys694fs) MSH6:c.1689dup (p.Cys564fs) MSH6:c.1173dup (p.Cys392fs) MSH6:c.2230dup (p.Glu744fs) MSH6:c.1840dup (p.Glu614fs) MSH6:c.1324dup (p.Glu442fs) APC:c.8483A>G (p.Asn2828Ser) APC:c.8459A>G (p.Asn2820Ser) APC:c.8354A>G (p.Asn2785Ser) APC:c.8345A>G (p.Asn2782Ser) APC:c.8306A>G (p.Asn2769Ser) APC:c.8252A>G (p.Asn2751Ser) APC:c.8156A>G (p.Asn2719Ser) APC:c.8126A>G (p.Asn2709Ser) APC:c.8051A>G (p.Asn2684Ser) APC:c.7949A>G (p.Asn2650Ser) APC:c.7580A>G (p.Asn2527Ser) PALB2:c.1846G>C (p.Asp616His) PALB2:c.1766C>T (p.Thr589Met) MLH1:c.380+2T>C MLH1:c.-447+2T>C MLH1:c.-252+2T>C MLH1:c.281+2T>C MLH1:c.-344+2T>C MLH1:c.86+2T>C MLH1:c.-355+2T>C MSH2:c.1464-1G>A MSH2:c.1662-1G>A PALB2:c.2360C>T (p.Thr787Ile) MSH2:c.2297delT MSH2:c.2297del (p.Ile766fs) MSH2:c.2099del (p.Ile700fs) MSH6:c.900dup (p.Lys301fs) MSH6:c.510dup (p.Lys171fs) MSH6:c.-7dup MSH2:c.842C>G (p.Ser281Ter) MSH2:c.644C>G (p.Ser215Ter) MSH2:c.842C>G MLH1:c.381-1G>A MLH1:c.-446-1G>A MLH1:c.-251-1G>A MLH1:c.282-1G>A MLH1:c.-343-1G>A MLH1:c.87-1G>A MLH1:c.-354-1G>A GALNT12:c.907G>A (p.Asp303Asn) GALNT12:c.907G>A MSH2:c.2T>G (p.Met1Arg) MSH2:c.2T>G MSH2:c.-31+18T>G MLH1:c.1228_1229del (p.Leu411fs) MLH1:c.499_500del (p.Leu168fs) MLH1:c.448_449del (p.Leu151fs) MLH1:c.1522_1523del (p.Leu509fs) MLH1:c.1423_1424del (p.Leu476fs) STK11:c.31A>G (p.Met11Val) MLH1:c.1358A>G (p.Asn453Ser) MLH1:c.629A>G (p.Asn210Ser) MLH1:c.578A>G (p.Asn193Ser) MLH1:c.1652A>G (p.Asn551Ser) MLH1:c.1553A>G (p.Asn518Ser) PALB2:c.23C>T (p.Pro8Leu) BLM:c.2638G>C BLM:c.2638G>C (p.Glu880Gln) BLM:c.1513G>C (p.Glu505Gln) MSH2:c.1847C>G MSH2:c.1847C>G (p.Pro616Arg) MSH2:c.1649C>G (p.Pro550Arg) AXIN2:c.1168A>G AXIN2:c.1168A>G (p.Ser390Gly) AXIN2:c.623C>T AXIN2:c.623C>T (p.Ala208Val) MSH2:c.1510+2T>C MSH2:c.1312+2T>C APC:c.373A>G (p.Met125Val) APC:c.268A>G (p.Met90Val) APC:c.343A>G (p.Met115Val) APC:c.166A>G (p.Met56Val) APC:c.-693A>G APC:c.343A>G MSH6:c.2862C>G (p.Tyr954Ter) MSH6:c.2472C>G (p.Tyr824Ter) MSH6:c.1956C>G (p.Tyr652Ter) MSH2:c.420dupT MSH2:c.420dup (p.Met141fs) MSH2:c.222dup (p.Met75fs) AXIN2:c.1386_1387delinsTT (p.Arg463Cys) AXIN2:c.1386_1387delCCinsTT STK11:c.44G>A (p.Gly15Asp) MSH6:c.2931C>A (p.Tyr977Ter) MSH6:c.2541C>A (p.Tyr847Ter) MSH6:c.2025C>A (p.Tyr675Ter) MUTYH:c.836G>A (p.Arg279Gln) MUTYH:c.920G>A (p.Arg307Gln) MUTYH:c.881G>A (p.Arg294Gln) MUTYH:c.869G>A (p.Arg290Gln) MUTYH:c.560G>A (p.Arg187Gln) MUTYH:c.491G>A (p.Arg164Gln) MUTYH:c.911G>A (p.Arg304Gln) APC:c.854A>G (p.Asp285Gly) APC:c.884A>G (p.Asp295Gly) APC:c.779A>G (p.Asp260Gly) APC:c.770A>G (p.Asp257Gly) APC:c.677A>G (p.Asp226Gly) APC:c.5A>G (p.Asp2Gly) SMAD4:c.1106A>G (p.Asn369Ser) MLH1:c.629A>C (p.His210Pro) MLH1:c.-101A>C MLH1:c.923A>C (p.His308Pro) MLH1:c.824A>C (p.His275Pro) MLH1:c.-36-5289A>C MSH3:c.3404T>G MSH3:c.3404T>G (p.Leu1135Arg) MSH3:c.1571A>C MSH3:c.1571A>C (p.Asn524Thr) MSH3:c.1469C>A MSH3:c.1469C>A (p.Ser490Tyr) FLCN:c.992C>T FLCN:c.1046C>T (p.Ser349Phe) FLCN:c.992C>T (p.Ser331Phe) MLH1:c.381-2A>T MLH1:c.-446-2A>T MLH1:c.-251-2A>T MLH1:c.282-2A>T MLH1:c.-343-2A>T MLH1:c.87-2A>T MLH1:c.-354-2A>T MSH3:c.1361G>T MSH3:c.1361G>T (p.Arg454Leu) MSH6:c.43C>T (p.Pro15Ser) MSH6:c.-694C>T FLCN:c.1A>G (p.Met1Val) APC:c.2276A>G (p.Asn759Ser) APC:c.2252A>G (p.Asn751Ser) APC:c.2147A>G (p.Asn716Ser) APC:c.2138A>G (p.Asn713Ser) APC:c.2099A>G (p.Asn700Ser) APC:c.2045A>G (p.Asn682Ser) APC:c.1949A>G (p.Asn650Ser) APC:c.1919A>G (p.Asn640Ser) APC:c.1844A>G (p.Asn615Ser) APC:c.1742A>G (p.Asn581Ser) APC:c.1373A>G (p.Asn458Ser) PALB2:c.829G>A (p.Asp277Asn) FLCN:c.1451T>C (p.Val484Ala) FLCN:c.1397T>C (p.Val466Ala) FLCN:c.1397T>C APC:c.5484T>G (p.Asp1828Glu) APC:c.5460T>G (p.Asp1820Glu) APC:c.5355T>G (p.Asp1785Glu) APC:c.5346T>G (p.Asp1782Glu) APC:c.5307T>G (p.Asp1769Glu) APC:c.5253T>G (p.Asp1751Glu) APC:c.5157T>G (p.Asp1719Glu) APC:c.5127T>G (p.Asp1709Glu) APC:c.5052T>G (p.Asp1684Glu) APC:c.4950T>G (p.Asp1650Glu) APC:c.4581T>G (p.Asp1527Glu) MSH2:c.2T>C (p.Met1Thr) MSH2:c.-31+18T>C MSH2:c.2T>C MLH1:c.-1102_-1095del MLH1:c.-1072_-1065del MLH1:c.-633_-626del MLH1:c.-833_-826del MLH1:c.-731_-724del MLH1:c.-828_-821del MLH1:c.-1060_-1053del MLH1:c.-7_1del (p.Met1fs) APC:c.3731A>G (p.Lys1244Arg) APC:c.3707A>G (p.Lys1236Arg) APC:c.3602A>G (p.Lys1201Arg) APC:c.3593A>G (p.Lys1198Arg) APC:c.3554A>G (p.Lys1185Arg) APC:c.3500A>G (p.Lys1167Arg) APC:c.3404A>G (p.Lys1135Arg) APC:c.3374A>G (p.Lys1125Arg) APC:c.3299A>G (p.Lys1100Arg) APC:c.3197A>G (p.Lys1066Arg) APC:c.2828A>G (p.Lys943Arg) MLH3:c.1018A>G (p.Ile340Val) PALB2:c.3232T>A (p.Cys1078Ser) MSH6:c.1384C>A (p.Pro462Thr) MSH6:c.994C>A (p.Pro332Thr) MSH6:c.478C>A (p.Pro160Thr) STK11:c.1258G>T (p.Ala420Ser) SMAD4:c.1217C>T (p.Ala406Val) MSH6:c.1901dup (p.Leu634fs) MSH6:c.1511dup (p.Leu504fs) MSH6:c.995dup (p.Leu332fs) APC:c.1096G>A (p.Asp366Asn) APC:c.1126G>A (p.Asp376Asn) APC:c.1021G>A (p.Asp341Asn) APC:c.1012G>A (p.Asp338Asn) APC:c.919G>A (p.Asp307Asn) APC:c.247G>A (p.Asp83Asn) APC:c.964-141G>A APC:c.859-141G>A APC:c.934-141G>A APC:c.757-141G>A BLM:c.2474C>T BLM:c.2474C>T (p.Pro825Leu) BLM:c.1349C>T (p.Pro450Leu) PALB2:c.2234A>G (p.Lys745Arg) CDH1:c.2602C>A CDH1:c.2419C>A (p.Arg807Ser) CDH1:c.1054C>A (p.Arg352Ser) CDH1:c.637C>A (p.Arg213Ser) CDH1:c.2602C>A (p.Arg868Ser) MSH6:c.3108_3109del (p.Phe1037fs) MSH6:c.2718_2719del (p.Phe907fs) MSH6:c.2202_2203del (p.Phe735fs) BLM:c.715G>C BLM:c.715G>C (p.Asp239His) BLM:c.-577G>C CDKN2A:c.43T>C (p.Cys15Arg) CDKN2A:c.-4+532T>C MSH3:c.316C>G MSH3:c.316C>G (p.Gln106Glu) MSH3:c.2041C>T MSH3:c.2041C>T (p.Pro681Ser) MSH3:c.2281G>T MSH3:c.2281G>T (p.Val761Leu) MSH3:c.2686G>T MSH3:c.2686G>T (p.Gly896Ter) MSH3:c.2069A>G (p.Asn690Ser) MSH3:c.2069A>G MSH3:c.2176A>C MSH3:c.2176A>C (p.Ile726Leu) MSH3:c.3346G>T MSH3:c.3346G>T (p.Ala1116Ser) MLH1:c.1010A>G (p.Lys337Arg) MLH1:c.959A>G (p.Lys320Arg) MLH1:c.1940A>G (p.Lys647Arg) MLH1:c.1934A>G (p.Lys645Arg) MLH1:c.1868A>G (p.Lys623Arg) MLH1:c.1896+1264A>G FLCN:c.1360T>G FLCN:c.1414T>G (p.Cys472Gly) FLCN:c.1360T>G (p.Cys454Gly) MSH3:c.2288G>T MSH3:c.2288G>T (p.Cys763Phe) MSH3:c.2336G>A MSH3:c.2336G>A (p.Arg779His) BLM:c.2843C>A (p.Ala948Glu) BLM:c.1718C>A (p.Ala573Glu) BLM:c.2843C>A BLM:c.4177A>G BLM:c.4177A>G (p.Asn1393Asp) BLM:c.3784A>G (p.Asn1262Asp) BLM:c.3052A>G (p.Asn1018Asp) SMAD4:c.457C>T (p.Pro153Ser) MSH3:c.3184G>A MSH3:c.3184G>A (p.Gly1062Arg) MSH3:c.2005C>T MSH3:c.2005C>T (p.Arg669Trp) MSH3:c.2480A>G MSH3:c.2480A>G (p.His827Arg) MSH2:c.1808-7_1824del MSH2:c.2006-7_2022del MSH6:c.1729delC MSH6:c.1729del (p.Arg577fs) MSH6:c.1339del (p.Arg447fs) MSH6:c.823del (p.Arg275fs) CDKN2A:c.379G>T (p.Ala127Ser) CDKN2A:c.226G>T (p.Ala76Ser) CDKN2A:c.*23G>T CDKN2A:c.*302G>T CDKN2A:c.379G>T MSH3:c.2732T>G MSH3:c.2732T>G (p.Leu911Trp) | nonsense mutation splice site mutation premature stop missense mutation | Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Molecular genetics & genomic medicine:2017 | |||
PALB2 gene CHEK2 gene BRCA2 gene | Breast Carcinoma Carcinoma of Male Breast genetic | 715 | c.1100delC | PALB2:c.3549C>G (p.Tyr1183Ter) ATM:c.5762_5763insNG_009830.1 ATM:c.5763-1050A>G ATM:c.641-39T>C ATM:c.*39-39T>C BRCA1:c.1855_1858AAAG[1] (p.Arg621Lysfs) BRCA1:c.1852_1855AAAG[1] (p.Arg620Lysfs) BRCA1:c.1849_1852AAAG[1] (p.Arg619Lysfs) BRCA1:c.1786_1789AAAG[1] (p.Arg598Lysfs) BRCA1:c.1783_1786AAAG[1] (p.Arg597Lysfs) BRCA2:c.1296_1297del (p.Asn433fs) BRCA2:c.1929del (p.Arg645fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.518del BRCA2:c.5350_5351del (p.Asn1784fs) BRCA2:c.5799_5802del (p.Asn1933fs) BRCA2:c.778_779del (p.Glu260fs) BRCA2:c.7976G>A (p.Arg2659Lys) BRCA2:c.7977-1G>C BRCA2:c.8331+1G>A BRCA2:c.9076C>T (p.Gln3026Ter) BRCA2:c.9253dup BRCA2:c.9253dup (p.Thr3085fs) BRCA2:c.9435_9436delGT BRCA2:c.9435_9436del (p.Ser3147fs) BRCA2:c.3975_3978dup (p.Ala1327fs) BRCA2:c.4456_4459del (p.Val1486fs) BRCA2:c.475G>A (p.Val159Met) BRCA2:c.4940_4941del (p.Thr1647fs) BRCA2:c.5130_5133del (p.Asp1709_Tyr1710insTer) BRCA2:c.5616_5620del (p.Lys1872fs) BRCA2:c.5857G>T (p.Glu1953Ter) BRCA2:c.6676_6677del (p.Glu2226fs) BRCA2:c.7007G>C (p.Arg2336Pro) BRCA2:c.8575C>T (p.Gln2859Ter) BRCA2:c.9331G>T (p.Glu3111Ter) BRCA2:c.6068_6072del (p.Asp2023fs) BRCA2:c.1642C>T (p.Gln548Ter) BARD1:c.1690C>T BARD1:c.1690C>T (p.Gln564Ter) BARD1:c.1633C>T (p.Gln545Ter) BARD1:c.337C>T (p.Gln113Ter) BARD1:c.280C>T (p.Gln94Ter) BARD1:c.365-15334C>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.661_662delinsTA (p.Val221Ter) PTEN:c.1061C>A PTEN:c.1061C>A (p.Pro354Gln) PTEN:c.1580C>A (p.Pro527Gln) PTEN:c.470C>A (p.Pro157Gln) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del PALB2:c.109-2A>G ATM:c.901+1G>A MRE11:c.1867+2T>C MRE11:c.1864+2T>C MRE11:c.1783+1411T>C CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T BRCA2:c.3257_3258del (p.Ile1086fs) RAD51D:c.270_271dup (p.Lys91fs) RAD51D:c.330_331dup (p.Lys111fs) RAD51D:c.145-960_145-959dup BRCA2:c.7865dup (p.Asn2622fs) BRCA2:c.6938-1G>A NF1:c.1721+3A>G NF1:c.1724A>G (p.Tyr575Cys) PALB2:c.93dup PALB2:c.93dup (p.Leu32fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast cancer research and treatment:2017 | |||
RAF1 gene MST1R gene ERBB2 gene NOTCH2 gene ERCC1 gene BARD1 gene ATM gene CHEK2 gene TP53 gene | hereditary breast cancer known breast cancer | 17 | c.1100delC | SOS1:c.3347-1G>A SOS1:c.3326-1G>A SOS1:c.3347-1724G>A APC:c.1658C>T (p.Ser553Phe) APC:c.1634C>T (p.Ser545Phe) APC:c.1529C>T (p.Ser510Phe) APC:c.1520C>T (p.Ser507Phe) APC:c.1481C>T (p.Ser494Phe) APC:c.1427C>T (p.Ser476Phe) APC:c.1331C>T (p.Ser444Phe) APC:c.1301C>T (p.Ser434Phe) APC:c.1226C>T (p.Ser409Phe) APC:c.1124C>T (p.Ser375Phe) APC:c.755C>T (p.Ser252Phe) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del SLX4:c.3368C>A SLX4:c.3368C>A (p.Ser1123Tyr) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) TSC2:c.3584C>T TSC2:c.3485C>T (p.Ala1162Val) TSC2:c.3455C>T (p.Ala1152Val) TSC2:c.3584C>T (p.Ala1195Val) TSC2:c.3452C>T (p.Ala1151Val) TSC2:c.3344C>T (p.Ala1115Val) TSC2:c.3308C>T (p.Ala1103Val) MSH3:c.2659G>A MSH3:c.2659G>A (p.Asp887Asn) SLX4:c.4766G>A SLX4:c.4766G>A (p.Arg1589His) BARD1:c.2215dupT BARD1:c.2215dup (p.Tyr739fs) BARD1:c.2158dup (p.Tyr720fs) BARD1:c.862dup (p.Tyr288fs) BARD1:c.805dup (p.Tyr269fs) BARD1:c.676dup (p.Tyr226fs) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | nucleaotide-sequencing | Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. Frontiers in genetics:2018 | ||
BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate | 150 | NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) BRCA2:c.2808_2811del (p.Ala938fs) BRCA2:c.5946del (p.Ser1982fs) MLH1:c.914A>G (p.Tyr305Cys) MLH1:c.863A>G (p.Tyr288Cys) MLH1:c.1838A>G (p.Tyr613Cys) MLH1:c.1772A>G (p.Tyr591Cys) MLH1:c.1897-347A>G MLH1:c.1896+874A>G BRCA1:c.4357+1G>A BRCA1:c.4216+1G>A BRCA1:c.1048+1G>A BRCA2:c.4163_4164delinsA (p.Thr1388fs) BRCA2:c.938C>T (p.Ser313Phe) BRCA1:c.4397G>C (p.Arg1466Thr) BRCA1:c.4256G>C (p.Arg1419Thr) BRCA1:c.4253G>C (p.Arg1418Thr) BRCA2:c.462_463del (p.Arg155_Asp156insTer) BRCA2:c.7879A>T (p.Ile2627Phe) BRCA2:c.9285C>G (p.Asp3095Glu) BRCA1:c.699C>A (p.Tyr233Ter) BRCA1:c.696C>A (p.Tyr232Ter) BRCA1:c.576C>A (p.Tyr192Ter) BRCA1:c.4389C>A (p.Tyr1463Ter) BRCA1:c.4248C>A (p.Tyr1416Ter) BRCA1:c.1077C>A (p.Tyr359Ter) BRCA1:c.4452C>A (p.Tyr1484Ter) MSH6:c.2561A>T (p.Lys854Met) MSH6:c.2171A>T (p.Lys724Met) MSH6:c.1655A>T (p.Lys552Met) MSH6:c.3245C>T (p.Pro1082Leu) MSH6:c.2855C>T (p.Pro952Leu) MSH6:c.2339C>T (p.Pro780Leu) MSH2:c.138C>G MSH2:c.138C>G (p.His46Gln) MSH2:c.-30-31C>G PALB2:c.1050_1053del (p.Thr351fs) PALB2:c.2674G>A (p.Glu892Lys) ATM:c.1009C>T (p.Arg337Cys) ATM:c.8968G>A (p.Glu2990Lys) ATM:c.640+20721C>T ATM:c.694+20721C>T BARD1:c.1568T>C BARD1:c.1568T>C (p.Val523Ala) BARD1:c.1511T>C (p.Val504Ala) BARD1:c.159-14927T>C BARD1:c.216-14927T>C BARD1:c.364+24815T>C MUTYH:c.583A>G (p.Ile195Val) MUTYH:c.667A>G (p.Ile223Val) MUTYH:c.628A>G (p.Ile210Val) MUTYH:c.616A>G (p.Ile206Val) MUTYH:c.307A>G (p.Ile103Val) MUTYH:c.238A>G (p.Ile80Val) MUTYH:c.658A>G (p.Ile220Val) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) MLH1:c.1481G>C (p.Ser494Thr) MLH1:c.752G>C (p.Ser251Thr) MLH1:c.701G>C (p.Ser234Thr) MLH1:c.1775G>C (p.Ser592Thr) MLH1:c.1676G>C (p.Ser559Thr) MLH1:c.1732-955G>C ATM:c.1844T>C (p.Leu615Pro) CHEK2:c.592+4A>G CHEK2:c.445-50A>G CHEK2:c.-186+4A>G CHEK2:c.721+4A>G APC:c.7618C>A (p.Pro2540Thr) APC:c.7594C>A (p.Pro2532Thr) APC:c.7489C>A (p.Pro2497Thr) APC:c.7480C>A (p.Pro2494Thr) APC:c.7441C>A (p.Pro2481Thr) APC:c.7387C>A (p.Pro2463Thr) APC:c.7291C>A (p.Pro2431Thr) APC:c.7261C>A (p.Pro2421Thr) APC:c.7186C>A (p.Pro2396Thr) APC:c.7084C>A (p.Pro2362Thr) APC:c.6715C>A (p.Pro2239Thr) ATM:c.829G>T (p.Glu277Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A NBN:c.480+5G>A NBN:c.234+5G>A CDH1:c.2195G>A CDH1:c.2012G>A (p.Arg671Gln) CDH1:c.647G>A (p.Arg216Gln) CDH1:c.230G>A (p.Arg77Gln) CDH1:c.2195G>A (p.Arg732Gln) PMS2:c.230+4A>G PMS2:c.-131+4A>G PMS2:c.398+4A>G PMS2:c.494+4A>G PMS2:c.485+4A>G PMS2:c.803+4A>G ATM:c.8783G>A (p.Arg2928Lys) ATM:c.640+32043C>T ATM:c.695-18585C>T CDH1:c.1988A>G CDH1:c.1805A>G (p.Tyr602Cys) CDH1:c.440A>G (p.Tyr147Cys) CDH1:c.23A>G (p.Tyr8Cys) CDH1:c.1988A>G (p.Tyr663Cys) NBN:c.171+4T>C NBN:c.-126+4T>C BRIP1:c.590C>T (p.Ser197Phe) BRCA2:c.4164T>A (p.Thr1388_Phe1389=) BRCA2:c.4164T>A PMS2:c.1328G>A (p.Arg443His) PMS2:c.1577G>A (p.Arg526His) PMS2:c.1415G>A (p.Arg472His) PMS2:c.1172G>A (p.Arg391His) PMS2:c.800G>A (p.Arg267His) PMS2:c.1160G>A (p.Arg387His) PMS2:c.1733G>A (p.Arg578His) PMS2:c.1424G>A (p.Arg475His) STK11:c.71C>T (p.Thr24Met) MSH6:c.170_184del15 MSH6:c.170_184del (p.Pro57_Ala61del) MSH6:c.-567_-553del MSH6:c.3574del (p.Val1192fs) MSH6:c.3184del (p.Val1062fs) MSH6:c.2668del (p.Val890fs) ATM:c.1843C>G (p.Leu615Val) | Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. The Prostate:2018 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 703 | c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.1254delT CHEK2:c.1383del (p.Phe461fs) CHEK2:c.591del (p.Phe197fs) CHEK2:c.1053del (p.Phe351fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1167del (p.Phe389fs) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. The Prostate:2018 | |||
RTEL1 gene POLH gene MAST1 gene CHEK2 gene ATM gene PALB2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma hereditary breast and ovarian cancer | 113 | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) PALB2:c.11C>T (p.Pro4Leu) PALB2:c.2903C>G (p.Ala968Gly) PALB2:c.3128G>C (p.Gly1043Ala) CHEK2:c.1196C>T (p.Ser399Leu) CHEK2:c.404C>T (p.Ser135Leu) CHEK2:c.866C>T (p.Ser289Leu) CHEK2:c.1067C>T (p.Ser356Leu) CHEK2:c.1009-1056C>T CHEK2:c.1067C>T CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) ATM:c.1009C>T (p.Arg337Cys) ATM:c.1010G>A (p.Arg337His) ATM:c.2770C>T (p.Arg924Trp) ATM:c.2932T>C (p.Ser978Pro) ATM:c.295A>G (p.Ser99Gly) ATM:c.4324T>C (p.Tyr1442His) ATM:c.4414T>G (p.Leu1472Val) ATM:c.5185G>C (p.Val1729Leu) ATM:c.5228C>T (p.Thr1743Ile) ATM:c.5882A>G (p.Tyr1961Cys) ATM:c.641-1208T>C ATM:c.*39-1208T>C ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.610G>A (p.Gly204Arg) ATM:c.68G>A (p.Arg23Gln) ATM:c.7390T>C (p.Cys2464Arg) ATM:c.641-21225A>G ATM:c.*38+4924A>G CHEK2:c.1180G>A CHEK2:c.1309G>A (p.Glu437Lys) CHEK2:c.517G>A (p.Glu173Lys) CHEK2:c.979G>A (p.Glu327Lys) CHEK2:c.1180G>A (p.Glu394Lys) CHEK2:c.1093G>A (p.Glu365Lys) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) ATM:c.8495G>A (p.Arg2832His) ATM:c.641-36748C>T ATM:c.695-10527C>T ATM:c.2149C>T (p.Arg717Trp) ATM:c.5750G>C (p.Arg1917Thr) CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1725del (p.Thr576fs) CHEK2:c.933del (p.Thr312fs) CHEK2:c.1395del (p.Thr466fs) CHEK2:c.1596del (p.Thr533fs) CHEK2:c.1509del (p.Thr504fs) CHEK2:c.1596delC CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T PALB2:c.2257C>T (p.Arg753Ter) ATM:c.1464G>T (p.Trp488Cys) PALB2:c.3320T>C (p.Leu1107Pro) ATM:c.670A>G (p.Lys224Glu) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) ATM:c.5753G>C (p.Arg1918Thr) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.1265G>A CHEK2:c.1394G>A (p.Ser465Asn) CHEK2:c.602G>A (p.Ser201Asn) CHEK2:c.1064G>A (p.Ser355Asn) CHEK2:c.1265G>A (p.Ser422Asn) CHEK2:c.1178G>A (p.Ser393Asn) CHEK2:c.1039G>A CHEK2:c.1168G>A (p.Asp390Asn) CHEK2:c.376G>A (p.Asp126Asn) CHEK2:c.838G>A (p.Asp280Asn) CHEK2:c.1039G>A (p.Asp347Asn) CHEK2:c.1009-1084G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CDKN2A:c.206A>G (p.Glu69Gly) CDKN2A:c.53A>G (p.Glu18Gly) CDKN2A:c.249A>G (p.Gly83=) CDKN2A:c.*129A>G ATM:c.1A>C (p.Met1Leu) PALB2:c.2336C>G (p.Ser779Ter) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del ATM:c.6115G>A (p.Glu2039Lys) ATM:c.641-6959C>T ATM:c.*39-6959C>T PALB2:c.2606C>G (p.Ser869Cys) ATM:c.3256C>T (p.Arg1086Cys) ATM:c.8138G>A (p.Arg2713Lys) ATM:c.641-26025C>T ATM:c.*38+124C>T PALB2:c.3494C>T (p.Ser1165Leu) PALB2:c.3350G>A (p.Arg1117Lys) PALB2:c.2325dup (p.Phe776fs) PALB2:c.487_488del PALB2:c.487_488del (p.Val163fs) ATM:c.1236-2A>T PALB2:c.2850del (p.Ser951fs) ATM:c.1595G>A (p.Cys532Tyr) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) ATM:c.6203T>C (p.Leu2068Ser) ATM:c.641-8306A>G ATM:c.*39-8306A>G PALB2:c.1595C>T (p.Pro532Leu) ATM:c.8624A>G (p.Asn2875Ser) ATM:c.641-38247T>C ATM:c.695-12026T>C FANCI:c.3466G>C (p.Gly1156Arg) FANCI:c.3187G>C (p.Gly1063Arg) FANCI:c.3286G>C (p.Gly1096Arg) ATM:c.4466G>A (p.Arg1489His) ATM:c.4853G>A (p.Arg1618Gln) ATM:c.5227A>T (p.Thr1743Ser) CHEK2:c.1003G>C CHEK2:c.1132G>C (p.Val378Leu) CHEK2:c.340G>C (p.Val114Leu) CHEK2:c.802G>C (p.Val268Leu) CHEK2:c.1003G>C (p.Val335Leu) ATM:c.4244A>G (p.Tyr1415Cys) PALB2:c.2750T>C (p.Val917Ala) FANCI:c.824T>C (p.Ile275Thr) FANCI:c.545T>C (p.Ile182Thr) ATM:c.6119C>T (p.Ala2040Val) ATM:c.641-6963G>A ATM:c.*39-6963G>A CHEK2:c.602T>C CHEK2:c.731T>C (p.Phe244Ser) CHEK2:c.-62T>C CHEK2:c.602T>C (p.Phe201Ser) CHEK2:c.482+5410T>C ATM:c.7999A>T (p.Met2667Leu) ATM:c.641-24886T>A ATM:c.*38+1263T>A ATM:c.6289G>T (p.Glu2097Ter) ATM:c.641-8392C>A ATM:c.*39-8392C>A CHEK2:c.692G>A CHEK2:c.821G>A (p.Cys274Tyr) CHEK2:c.29G>A (p.Cys10Tyr) CHEK2:c.491G>A (p.Cys164Tyr) CHEK2:c.692G>A (p.Cys231Tyr) RTEL1:c.1189C>G (p.Gln397Glu) RTEL1:c.1261C>G (p.Gln421Glu) RTEL1:c.520C>G (p.Gln174Glu) CHEK2:c.283C>G CHEK2:c.283C>G (p.Arg95Gly) CHEK2:c.-495C>G CHEK2:c.319G>A CHEK2:c.319G>A (p.Glu107Lys) CHEK2:c.-459G>A FANCI:c.3188A>T (p.Asp1063Val) FANCI:c.2909A>T (p.Asp970Val) FANCI:c.3008A>T (p.Asp1003Val) FANCI:c.3188A>T ATM:c.14T>G (p.Leu5Arg) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) | nucleaotide-sequencing | Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. International journal of cancer:2019 | |||
NBN gene RAD51C gene PTEN gene PMS2 gene PALB2 gene HRAS gene FANCM gene FANCG gene CHEK2 gene CDH1 gene BRCA1 gene BLM gene ATM gene | Breast Carcinoma Malignant neoplasm of ovary breast and breast and ovarian cancer hereditary breast and | 237 | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) SMAD4:c.565C>T (p.Arg189Cys) BRCA2:c.7928C>T (p.Ala2643Val) PALB2:c.172_175del (p.Gln60fs) ATM:c.4324T>C (p.Tyr1442His) PMS2:c.1085G>A (p.Gly362Asp) PMS2:c.1334G>A (p.Gly445Asp) PMS2:c.1172G>A (p.Gly391Asp) PMS2:c.929G>A (p.Gly310Asp) PMS2:c.557G>A (p.Gly186Asp) PMS2:c.917G>A (p.Gly306Asp) PMS2:c.1490G>A (p.Gly497Asp) PMS2:c.1181G>A (p.Gly394Asp) SMAD4:c.424+5G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) BRIP1:c.1255C>T (p.Arg419Trp) RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.5645G>A (p.Arg1882Gln) CDH1:c.1137G>A CDH1:c.1137G>A (p.Thr379=) CDH1:c.-479G>A CDH1:c.-683G>A MSH6:c.2875C>T (p.Arg959Cys) MSH6:c.2485C>T (p.Arg829Cys) MSH6:c.1969C>T (p.Arg657Cys) APC:c.7628G>A (p.Arg2543His) APC:c.7604G>A (p.Arg2535His) APC:c.7499G>A (p.Arg2500His) APC:c.7490G>A (p.Arg2497His) APC:c.7451G>A (p.Arg2484His) APC:c.7397G>A (p.Arg2466His) APC:c.7301G>A (p.Arg2434His) APC:c.7271G>A (p.Arg2424His) APC:c.7196G>A (p.Arg2399His) APC:c.7094G>A (p.Arg2365His) APC:c.6725G>A (p.Arg2242His) BMPR1A:c.499A>G (p.Met167Val) MSH6:c.175C>A (p.Pro59Thr) MSH6:c.-562C>A MSH2:c.2211-6C>A MSH2:c.2013-6C>A FANCA:c.2602-9_2602-8del FANCA:c.2602-13CT[2] FANCM:c.1576C>G FANCM:c.1498C>G (p.Leu500Val) FANCM:c.1576C>G (p.Leu526Val) MSH2:c.2164G>A MSH2:c.2164G>A (p.Val722Ile) MSH2:c.1966G>A (p.Val656Ile) MLH1:c.766G>A (p.Gly256Ser) MLH1:c.37G>A (p.Gly13Ser) MLH1:c.-15G>A MLH1:c.1060G>A (p.Gly354Ser) MLH1:c.961G>A (p.Gly321Ser) BRCA1:c.4186_4357dup BRIP1:c.2623G>C (p.Glu875Gln) ATM:c.4631A>G (p.Tyr1544Cys) ATM:c.2818A>G (p.Lys940Glu) RAD51C:c.454G>T RAD51C:c.454G>T (p.Ala152Ser) ATM:c.4109+6T>G ATM:c.2141C>T (p.Thr714Ile) FANCM:c.1237T>C FANCM:c.1159T>C (p.Tyr387His) FANCM:c.1237T>C (p.Tyr413His) ATM:c.8821_8822TC[1] (p.Gln2942Glyfs) ATM:c.8823_8824del (p.Gln2942fs) ATM:c.640+31075_640+31076del ATM:c.695-19553_695-19552del FANCG:c.1182_1192delinsC FANCG:c.1182_1192delinsC (p.Glu395fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | nucleaotide-sequencing comparative genomic hybridization | The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants. International journal of cancer:2019 | |||
POLD1 gene PTEN gene PMS2 gene TP53 gene NF1 gene ATM gene CHEK2 gene | Thyroid carcinoma hereditary tumor syndrome | 173 | APC:c.1661T>C (p.Ile554Thr) APC:c.1556T>C (p.Ile519Thr) APC:c.1547T>C (p.Ile516Thr) APC:c.1508T>C (p.Ile503Thr) APC:c.1454T>C (p.Ile485Thr) APC:c.1358T>C (p.Ile453Thr) APC:c.1328T>C (p.Ile443Thr) APC:c.1253T>C (p.Ile418Thr) APC:c.1151T>C (p.Ile384Thr) APC:c.782T>C (p.Ile261Thr) APC:c.1631T>C RAD50:c.1277A>G RAD50:c.1277A>G (p.Gln426Arg) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T APC:c.5063C>T (p.Ala1688Val) APC:c.5039C>T (p.Ala1680Val) APC:c.4934C>T (p.Ala1645Val) APC:c.4925C>T (p.Ala1642Val) APC:c.4886C>T (p.Ala1629Val) APC:c.4832C>T (p.Ala1611Val) APC:c.4736C>T (p.Ala1579Val) APC:c.4706C>T (p.Ala1569Val) APC:c.4631C>T (p.Ala1544Val) APC:c.4529C>T (p.Ala1510Val) APC:c.4160C>T (p.Ala1387Val) PMS2:c.1712del (p.Lys571fs) PMS2:c.1961del (p.Lys654fs) PMS2:c.1799del (p.Lys600fs) PMS2:c.1556del (p.Lys519fs) PMS2:c.1184del (p.Lys395fs) PMS2:c.1544del (p.Lys515fs) PMS2:c.2117del (p.Lys706fs) PMS2:c.1808del (p.Lys603fs) BARD1:c.119C>T BARD1:c.119C>T (p.Ala40Val) POLD1:c.961G>A POLD1:c.961G>A (p.Gly321Ser) PALB2:c.3494C>T (p.Ser1165Leu) NF1:c.3197+9dup MSH6:c.3664T>G (p.Phe1222Val) MSH6:c.3274T>G (p.Phe1092Val) MSH6:c.2758T>G (p.Phe920Val) MSH6:c.3600A>G (p.Ile1200Met) MSH6:c.3210A>G (p.Ile1070Met) MSH6:c.2694A>G (p.Ile898Met) RAD51C:c.706-1G>A MSH6:c.3724C>T (p.Arg1242Cys) MSH6:c.3334C>T (p.Arg1112Cys) MSH6:c.2818C>T (p.Arg940Cys) POLE:c.6262C>T POLE:c.6262C>T (p.Pro2088Ser) APC:c.7699C>T (p.Arg2567Cys) APC:c.7675C>T (p.Arg2559Cys) APC:c.7570C>T (p.Arg2524Cys) APC:c.7561C>T (p.Arg2521Cys) APC:c.7522C>T (p.Arg2508Cys) APC:c.7468C>T (p.Arg2490Cys) APC:c.7372C>T (p.Arg2458Cys) APC:c.7342C>T (p.Arg2448Cys) APC:c.7267C>T (p.Arg2423Cys) APC:c.7165C>T (p.Arg2389Cys) APC:c.6796C>T (p.Arg2266Cys) BMPR1A:c.712C>G (p.Arg238Gly) RET:c.1927A>G (p.Thr643Ala) RET:c.1807A>G (p.Thr603Ala) RET:c.1663A>G (p.Thr555Ala) RET:c.3112A>G (p.Thr1038Ala) | nucleaotide-sequencing | nonsense mutation frameshift | Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary cancer in clinical practice:2019 | ||
PTEN gene PMS2 gene PALB2 gene BRIP1 gene RAD51C gene BRCA2 gene BRCA1 gene | Breast Carcinoma Malignant neoplasm of ovary breast and breast and ovarian cancer | 110 | FANCC:c.934A>G FANCC:c.934A>G (p.Ile312Val) CHEK2:c.1180G>A CHEK2:c.1309G>A (p.Glu437Lys) CHEK2:c.517G>A (p.Glu173Lys) CHEK2:c.979G>A (p.Glu327Lys) CHEK2:c.1180G>A (p.Glu394Lys) CHEK2:c.1093G>A (p.Glu365Lys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T PMS2:c.5A>G (p.Glu2Gly) PMS2:c.-211A>G PMS2:c.-71A>G PMS2:c.-586A>G PMS2:c.-261A>G PMS2:c.-880A>G PMS2:c.-875A>G PMS2:c.-396A>G PMS2:c.-475A>G PMS2:c.5A>G ATM:c.5278A>G (p.Met1760Val) ATM:c.2085G>A (p.Leu695=) | Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel. Journal of medical genetics:2020 | ||||
CHEK2 gene MUTYH gene BRCA1 gene | Breast Carcinoma breast and colon cancers hereditary cancer | p.Thr476Met c.1427C>T p.Pro295Leu c.884C>T | CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.803C>T (p.Pro268Leu) MUTYH:c.842C>T (p.Ala281Val) MUTYH:c.839C>T (p.Ala280Val) MUTYH:c.884C>T (p.Ala295Val) MUTYH:c.872C>T (p.Ala291Val) MUTYH:c.563C>T (p.Ala188Val) MUTYH:c.494C>T (p.Ala165Val) MUTYH:c.914C>T (p.Ala305Val) BRCA1:c.1430C>T (p.Ala477Val) BRCA1:c.1238C>T (p.Ala413Val) BRCA1:c.1235C>T (p.Ala412Val) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) BRCA1:c.1259C>T (p.Ser420Phe) BRCA1:c.1139C>T (p.Ser380Phe) BRCA1:c.1112C>T (p.Ser371Phe) BRCA1:c.4952C>T (p.Ser1651Phe) BRCA1:c.4811C>T (p.Ser1604Phe) BRCA1:c.1640C>T (p.Ser547Phe) BRCA1:c.5015C>T (p.Ser1672Phe) BRCA1:c.4622C>T (p.Ala1541Val) BRCA1:c.4619C>T (p.Ala1540Val) BRCA1:c.4544C>T (p.Ala1515Val) BRCA1:c.4499C>T (p.Ala1500Val) BRCA1:c.4118C>T (p.Ala1373Val) BRCA1:c.4115C>T (p.Ala1372Val) BRCA1:c.2402C>T (p.Ala801Val) BRCA1:c.2399C>T (p.Ala800Val) BRCA1:c.1763C>T (p.Ala588Val) BRCA1:c.1760C>T (p.Ala587Val) BRCA1:c.4739C>T (p.Ser1580Phe) BRCA1:c.4598C>T (p.Ser1533Phe) BRCA1:c.1427C>T (p.Ser476Phe) BRCA1:c.4802C>T (p.Ser1601Phe) BRCA1:c.1200delC (p.Pro401Leufs) BRCA1:c.1197delC (p.Pro400Leufs) BRCA1:c.1173delC (p.Pro392Leufs) BRCA1:c.1167delC (p.Pro390Leufs) BRCA1:c.1149delC (p.Pro384Leufs) | Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family. Cancer genetics:2022 |
Gene | Symptoms or Disease | Patient's Age | History | Variations from text | Variations from curated data | Citation |
---|---|---|---|---|---|---|
CHEK2 gene | Colorectal Carcinoma colorectal | 52 | colorectal cancer colonic carcinoma | p.Arg145Trp p.Arg137Gln p.Arg117Gly c.*1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-368G>A (n.-368G>A) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.-429A>G (n.-429A>G) | Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. The Journal of pathology:2005 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|---|
CHEK2 gene | Breast Carcinoma | 68 | p.Arg137Gln p.Arg117Gly p.Arg180His c.1100delC c.*1100delC | CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.-368G>A (n.-368G>A) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.-239G>A (n.-239G>A) CHEK2:c.445-107G>A (n.445-107G>A) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. British journal of cancer:2002 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 737 | 335 | p.Ile157Thr p.Arg145Trp p.Arg117Gly c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. American journal of human genetics:2003 | |||
CHEK2 gene | Breast Carcinoma | p.Arg117Gly c.483-485delAGA c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.-429A>G (n.-429A>G) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer research:2006 | |||||
CHEK2 gene | Malignant neoplasm of prostate | p.Glu321Lys c.967A>C p.Arg117Gly c.349A>G | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1160C>T CHEK2:c.1289C>T (p.Thr430Ile) CHEK2:c.497C>T (p.Thr166Ile) CHEK2:c.959C>T (p.Thr320Ile) CHEK2:c.1160C>T (p.Thr387Ile) CHEK2:c.1073C>T (p.Thr358Ile) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.1160C>A CHEK2:c.1289C>A (p.Thr430Asn) CHEK2:c.497C>A (p.Thr166Asn) CHEK2:c.959C>A (p.Thr320Asn) CHEK2:c.1160C>A (p.Thr387Asn) CHEK2:c.1073C>A (p.Thr358Asn) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.347G>C CHEK2:c.-431G>C CHEK2:c.347G>C (p.Gly116Ala) CHEK2:c.476G>C (p.Gly159Ala) CHEK2:c.1276A>G (p.Thr426Ala) CHEK2:c.484A>G (p.Thr162Ala) CHEK2:c.946A>G (p.Thr316Ala) CHEK2:c.1147A>G (p.Thr383Ala) CHEK2:c.1060A>G (p.Thr354Ala) CHEK2:c.1147A>G CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) CHEK2:c.1159A>G CHEK2:c.1288A>G (p.Thr430Ala) CHEK2:c.496A>G (p.Thr166Ala) CHEK2:c.958A>G (p.Thr320Ala) CHEK2:c.1159A>G (p.Thr387Ala) CHEK2:c.1072A>G (p.Thr358Ala) CHEK2:c.961G>A CHEK2:c.1090G>A (p.Glu364Lys) CHEK2:c.298G>A (p.Glu100Lys) CHEK2:c.760G>A (p.Glu254Lys) CHEK2:c.961G>A (p.Glu321Lys) CHEK2:c.-429A>G (n.-429A>G) | Characterization of CHEK2 mutations in prostate cancer. Human mutation:2006 | |||||
CDKN2A gene CHEK2 gene TP53 gene | Breast Carcinoma | 109 | p.Arg95Ter | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.1091T>C CHEK2:c.1220T>C (p.Ile407Thr) CHEK2:c.428T>C (p.Ile143Thr) CHEK2:c.890T>C (p.Ile297Thr) CHEK2:c.1091T>C (p.Ile364Thr) CHEK2:c.1009-1032T>C CHEK2:c.-495C>T (n.-495C>T) | nucleaotide-sequencing | CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. PloS one:2008 | |||
CHEK2 gene | Breast Carcinoma | 673 | p.Leu174Phe p.Thr172Ala p.Tyr159His c.IVS2+1G>A c.470T>C p.Ile157Thr | CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.573+1G>T CHEK2:c.444+1G>T CHEK2:c.-334+1G>T CHEK2:c.320-5T>A CHEK2:c.-458-5T>A CHEK2:c.449-5T>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.514A>G CHEK2:c.643A>G (p.Thr215Ala) CHEK2:c.-264A>G CHEK2:c.514A>G (p.Thr172Ala) CHEK2:c.445-132A>G CHEK2:c.604T>C CHEK2:c.475T>C CHEK2:c.604T>C (p.Tyr202His) CHEK2:c.-303T>C CHEK2:c.475T>C (p.Tyr159His) CHEK2:c.444+149T>C CHEK2:c.520C>T CHEK2:c.649C>T (p.Leu217Phe) CHEK2:c.-258C>T CHEK2:c.520C>T (p.Leu174Phe) CHEK2:c.445-126C>T CHEK2:c.444+3A>G CHEK2:c.-334+3A>G CHEK2:c.573+3A>G CHEK2:c.-303T>C (n.-303T>C) CHEK2:c.444+149T>C (n.444+149T>C) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations. Breast cancer research and treatment:2008 | ||||
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 1303 | CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.1166G>T (p.Arg389Leu) CHEK2:c.374G>T (p.Arg125Leu) CHEK2:c.836G>T (p.Arg279Leu) CHEK2:c.1037G>T (p.Arg346Leu) CHEK2:c.1009-1086G>T CHEK2:c.1037G>T CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.405delA CHEK2:c.534del (p.Lys178fs) CHEK2:c.-373del CHEK2:c.405del (p.Lys135fs) CHEK2:c.1528C>T CHEK2:c.1657C>T (p.Gln553Ter) CHEK2:c.865C>T (p.Gln289Ter) CHEK2:c.1327C>T (p.Gln443Ter) CHEK2:c.1528C>T (p.Gln510Ter) CHEK2:c.1441C>T (p.Gln481Ter) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | premature stop | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast cancer research : BCR:2011 | ||||
TP53 gene BRCA2 gene BRCA1 gene CHEK2 gene | Li-Fraumeni Syndrome Breast Carcinoma breast/ovarian cancer sarcoma | p.His13Arg p.Phe169Leufs c.38A>G c.507delT | CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.507delT CHEK2:c.636del (p.Phe212fs) CHEK2:c.-271del CHEK2:c.507del (p.Phe169fs) CHEK2:c.445-139del CHEK2:c.633del (p.Phe212fs) CHEK2:c.-274del CHEK2:c.504del (p.Phe169fs) CHEK2:c.445-142del CHEK2:c.38A>G CHEK2:c.38A>G (p.His13Arg) CHEK2:c.-740A>G TP53:c.155A>G TP53:c.155A>G (p.Gln52Arg) TP53:c.38A>G (p.Gln13Arg) BRCA1:c.38A>G (p.Gln13Arg) BRCA1:c.-10A>G BRCA1:c.179A>G (p.Gln60Arg) CHEK2:c.-740A>G (n.-740A>G) CHEK2:c.636del (p.Phe212LeufsTer2) CHEK2:c.-271del (n.-271del) CHEK2:c.507del (p.Phe169LeufsTer2) CHEK2:c.445-139del (n.445-139del) | point mutation loss-of-function premature stop | Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations. Breast cancer research and treatment:2011 | ||||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | |||||
ATM gene CHEK2 gene MUTYH gene MSH2 gene TP53 gene | Breast Carcinoma | 278 | double heterozygous heterozygous | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) TP53:c.55C>A (p.Pro19Thr) TP53:c.334C>A (p.Pro112Thr) TP53:c.-27C>A BRCA2:c.62A>G (p.Lys21Arg) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G PMS2:c.86G>C (p.Gly29Ala) PMS2:c.-130G>C PMS2:c.-320G>C PMS2:c.-799G>C PMS2:c.-399G>C PMS2:c.-52-1911G>C PMS2:c.-242-1911G>C MUTYH:c.1174C>A (p.Leu392Met) MUTYH:c.1258C>A (p.Leu420Met) MUTYH:c.1219C>A (p.Leu407Met) MUTYH:c.1207C>A (p.Leu403Met) MUTYH:c.898C>A (p.Leu300Met) MUTYH:c.829C>A (p.Leu277Met) MUTYH:c.1249C>A (p.Leu417Met) BRCA1:c.966T>G (p.Asp322Glu) BRCA1:c.969T>G (p.Asp323Glu) BRCA1:c.1110T>G (p.Asp370Glu) BRCA1:c.1107T>G (p.Asp369Glu) BRCA1:c.1408G>A (p.Glu470Lys) BRCA1:c.1645G>A (p.Glu549Lys) BRCA1:c.1285G>A (p.Glu429Lys) BRCA1:c.901G>A (p.Glu301Lys) BRCA1:c.1789G>A (p.Glu597Lys) BRCA1:c.1648G>A (p.Glu550Lys) BRCA1:c.787+1002G>A BRCA2:c.502C>A (p.Pro168Thr) BRCA2:c.742G>A (p.Ala248Thr) BRCA2:c.94T>C (p.Phe32Leu) MSH6:c.1932G>C (p.Arg644Ser) MSH6:c.1542G>C (p.Arg514Ser) MSH6:c.1026G>C (p.Arg342Ser) MSH6:c.3245C>T (p.Pro1082Leu) MSH6:c.2855C>T (p.Pro952Leu) MSH6:c.2339C>T (p.Pro780Leu) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MLH1:c.1880G>A (p.Arg627His) MLH1:c.1151G>A (p.Arg384His) MLH1:c.1100G>A (p.Arg367His) MLH1:c.2081G>A (p.Arg694His) MLH1:c.2075G>A (p.Arg692His) MLH1:c.2009G>A (p.Arg670His) MSH2:c.1321A>C (p.Thr441Pro) MSH2:c.1123A>C (p.Thr375Pro) MSH2:c.1321A>C MSH2:c.2503A>C (p.Asn835His) MSH2:c.2503A>C MSH2:c.2305A>C (p.Asn769His) BRCA2:c.2835A>C (p.Lys945Asn) MSH6:c.3203G>A (p.Arg1068Gln) MSH6:c.2813G>A (p.Arg938Gln) MSH6:c.2297G>A (p.Arg766Gln) MSH6:c.3203G>A PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.94C>G (p.Leu32Val) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.7313C>T (p.Thr2438Ile) ATM:c.641-21148G>A ATM:c.*38+5001G>A ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C ATM:c.8156G>A (p.Arg2719His) ATM:c.641-26778C>T ATM:c.695-557C>T ATM:c.8558C>G (p.Thr2853Arg) ATM:c.641-36811G>C ATM:c.695-10590G>C MLH1:c.1126C>G (p.Arg376Gly) MLH1:c.397C>G (p.Arg133Gly) MLH1:c.346C>G (p.Arg116Gly) MLH1:c.1420C>G (p.Arg474Gly) MLH1:c.1321C>G (p.Arg441Gly) MLH1:c.651C>G (p.His217Gln) MLH1:c.-79C>G MLH1:c.945C>G (p.His315Gln) MLH1:c.846C>G (p.His282Gln) MLH1:c.-36-5267C>G PMS2:c.691G>C (p.Asp231His) PMS2:c.778G>C (p.Asp260His) PMS2:c.163G>C (p.Asp55His) PMS2:c.523G>C (p.Asp175His) PMS2:c.1096G>C (p.Asp366His) PMS2:c.787G>C (p.Asp263His) PMS2:c.583+2125G>C PMS2:c.988+2125G>C PMS2:c.-240C>G PMS2:c.166C>G (p.Leu56Val) PMS2:c.-50C>G PMS2:c.-719C>G PMS2:c.-319C>G PMS2:c.215G>A (p.Gly72Glu) PMS2:c.620G>A (p.Gly207Glu) PMS2:c.302G>A (p.Gly101Glu) PMS2:c.-314G>A PMS2:c.311G>A (p.Gly104Glu) PMS2:c.133-1770G>A NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) MRE11:c.529G>A (p.Ala177Thr) CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A TP53:c.*115T>G TP53:c.979T>G (p.Ser327Ala) TP53:c.*203T>G TP53:c.619T>G (p.Ser207Ala) TP53:c.1096T>G TP53:c.1096T>G (p.Ser366Ala) ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) MRE11:c.1090C>T (p.Arg364Ter) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.8558C>T (p.Thr2853Met) ATM:c.641-36811G>A ATM:c.695-10590G>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A MSH2:c.55T>C (p.Phe19Leu) MSH2:c.55T>C MSH2:c.-31+71T>C MSH6:c.1061G>T (p.Gly354Val) MSH6:c.671G>T (p.Gly224Val) MSH6:c.155G>T (p.Gly52Val) TP53:c.604G>C (p.Gly202Arg) TP53:c.*107G>C TP53:c.*19G>C TP53:c.883G>C (p.Gly295Arg) TP53:c.523G>C (p.Gly175Arg) MUTYH:c.206G>A (p.Arg69Gln) MUTYH:c.290G>A (p.Arg97Gln) MUTYH:c.251G>A (p.Arg84Gln) MUTYH:c.239G>A (p.Arg80Gln) MUTYH:c.-71G>A MUTYH:c.-66G>A MUTYH:c.281G>A (p.Arg94Gln) PMS2:c.944G>A (p.Arg315Gln) PMS2:c.626G>A (p.Arg209Gln) PMS2:c.539G>A (p.Arg180Gln) PMS2:c.11G>A (p.Arg4Gln) PMS2:c.371G>A (p.Arg124Gln) PMS2:c.635G>A (p.Arg212Gln) PMS2:c.944G>A TP53:c.374C>T TP53:c.374C>T (p.Thr125Met) TP53:c.257C>T (p.Thr86Met) COL3A1:c.2002C>A (p.Pro668Thr) TP53:c.472C>T (p.Arg158Cys) TP53:c.751C>T (p.Arg251Cys) TP53:c.391C>T (p.Arg131Cys) RAD50:c.1679G>T RAD50:c.1679G>T (p.Ser560Ile) MLH1:c.1879C>G (p.Arg627Gly) MLH1:c.1150C>G (p.Arg384Gly) MLH1:c.1099C>G (p.Arg367Gly) MLH1:c.2080C>G (p.Arg694Gly) MLH1:c.2074C>G (p.Arg692Gly) MLH1:c.2008C>G (p.Arg670Gly) BRIP1:c.2992_2993del (p.Lys998fs) PALB2:c.23C>T (p.Pro8Leu) ATM:c.4087A>G (p.Thr1363Ala) RAD50:c.2177G>A (p.Arg726His) RAD50:c.2177G>A RAD50:c.1253_1254delTT RAD50:c.1253_1254del (p.Phe418fs) NBN:c.1274G>A (p.Arg425Lys) NBN:c.1028G>A (p.Arg343Lys) RAD50:c.260G>A RAD50:c.260G>A (p.Arg87His) CDKN2A:c.104G>C (p.Gly35Ala) CDKN2A:c.-3-3516G>C CDKN2A:c.194-3516G>C ATM:c.6839del ATM:c.6839del (p.Gln2280fs) ATM:c.641-17018del ATM:c.*38+9131del RAD50:c.3824A>G RAD50:c.3824A>G (p.Glu1275Gly) TP53:c.*186G>T TP53:c.*98G>T TP53:c.962G>T (p.Gly321Val) TP53:c.602G>T (p.Gly201Val) TP53:c.1079G>T (p.Gly360Val) BRCA2:c.818C>T (p.Ser273Leu) MSH6:c.3478G>A (p.Val1160Ile) MSH6:c.3088G>A (p.Val1030Ile) MSH6:c.2572G>A (p.Val858Ile) MLH1:c.1878_1879delinsAG (p.Arg627Gly) MLH1:c.1149_1150delinsAG (p.Arg384Gly) MLH1:c.1098_1099delinsAG (p.Arg367Gly) MLH1:c.2079_2080delinsAG (p.Arg694Gly) MLH1:c.2073_2074delinsAG (p.Arg692Gly) MLH1:c.2007_2008delinsAG (p.Arg670Gly) ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T BRCA2:c.4813G>A (p.Val1605Ile) ATM:c.8155C>T (p.Arg2719Cys) ATM:c.641-26777G>A ATM:c.695-556G>A MUTYH:c.887C>T (p.Ser296Leu) MUTYH:c.971C>T (p.Ser324Leu) MUTYH:c.932C>T (p.Ser311Leu) MUTYH:c.920C>T (p.Ser307Leu) MUTYH:c.611C>T (p.Ser204Leu) MUTYH:c.542C>T (p.Ser181Leu) MUTYH:c.962C>T (p.Ser321Leu) STK11:c.976C>A (p.Pro326Thr) MLH1:c.-205G>A MLH1:c.-964G>A MLH1:c.-1077G>A MLH1:c.-986G>A MLH1:c.-747G>A MLH1:c.-645G>A MLH1:c.-742G>A MLH1:c.-974G>A MLH1:c.80G>A (p.Arg27Gln) ATM:c.3601T>A (p.Phe1201Ile) PMS2:c.611A>G (p.Asn204Ser) PMS2:c.293A>G (p.Asn98Ser) PMS2:c.206A>G (p.Asn69Ser) PMS2:c.-323A>G PMS2:c.302A>G (p.Asn101Ser) PMS2:c.133-1779A>G PMS2:c.611A>G BRCA1:c.2087G>T (p.Arg696Ile) BRCA1:c.2324G>T (p.Arg775Ile) BRCA1:c.1964G>T (p.Arg655Ile) BRCA1:c.1580G>T (p.Arg527Ile) BRCA1:c.2468G>T (p.Arg823Ile) BRCA1:c.2327G>T (p.Arg776Ile) BRCA1:c.787+1681G>T MSH6:c.1870G>A (p.Gly624Ser) MSH6:c.1480G>A (p.Gly494Ser) MSH6:c.964G>A (p.Gly322Ser) BRCA2:c.3836A>G (p.Asn1279Ser) ATM:c.5080G>A (p.Ala1694Thr) MSH6:c.1231A>T (p.Arg411Trp) MSH6:c.841A>T (p.Arg281Trp) MSH6:c.325A>T (p.Arg109Trp) ATM:c.8774G>T (p.Gly2925Val) ATM:c.640+32052C>A ATM:c.695-18576C>A BRCA2:c.6463C>G (p.Leu2155Val) CHEK2:c.506T>C CHEK2:c.635T>C (p.Phe212Ser) CHEK2:c.-272T>C CHEK2:c.506T>C (p.Phe169Ser) CHEK2:c.445-140T>C RAD50:c.3358G>C RAD50:c.3358G>C (p.Asp1120His) RAD50:c.1680T>A RAD50:c.1680T>A (p.Ser560Arg) CHEK2:c.163T>G (p.Ser55Ala) CHEK2:c.-615T>G CHEK2:c.163T>G MRE11:c.1378G>T (p.Glu460Ter) | nucleaotide-sequencing | Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genetics in medicine : official journal of the American College of Medical Genetics:2015 | |||
BRCA2 gene ATM gene CHEK2 gene PALB2 gene | Breast Carcinoma | c.7271T>G c.1343T>G c.1312G>T c.1036C>T c.715G>A c.538C>T c.349A>G c.3113G>A c.2816T>G c.1592delT | ATM:c.7271T>G (p.Val2424Gly) ATM:c.641-20131A>C ATM:c.*38+6018A>C CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) PALB2:c.1592del (p.Leu531fs) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.3113G>A (p.Trp1038Ter) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T ATM:c.1215del (p.Asn405fs) ATM:c.641-20131A>C (n.641-20131A>C) ATM:c.*38+6018A>C (n.*38+6018A>C) ATM:c.538C>T (p.Gln180Ter) CHEK2:c.1312G>T (p.Val438Phe) CHEK2:c.520G>T (p.Val174Phe) CHEK2:c.982G>T (p.Val328Phe) CHEK2:c.1183G>T (p.Val395Phe) CHEK2:c.1096G>T (p.Val366Phe) CHEK2:c.1009-1087C>T (n.1009-1087C>T) CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.-369C>T (n.-369C>T) CHEK2:c.-429A>G (n.-429A>G) | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of medical genetics:2016 | |||||
TP53 gene CHEK2 gene ATM gene BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary breast and hereditary breast and ovarian cancer | 14 | 94 | c.156_157insA | BRIP1:c.139C>G (p.Pro47Ala) BRCA1:c.85_86CT[2] (p.Ser30Terfs) BRCA1:c.256_257CT[2] (p.Ser87Terfs) BRCA1:c.466_467CT[2] (p.Ser157Terfs) BRCA1:c.470_471del (p.Leu156_Ser157insTer) BRCA1:c.329_330del (p.Leu109_Ser110insTer) BRCA2:c.7975A>G (p.Arg2659Gly) BRCA2:c.9004G>A (p.Glu3002Lys) BRCA2:c.6656C>G (p.Ser2219Ter) BRCA2:c.7738C>T (p.Gln2580Ter) BRCA2:c.9455_9456del (p.Glu3152fs) BRCA1:c.1911delGinsCC (p.Lys637Asnfs) BRCA1:c.1896delGinsCC (p.Lys632Asnfs) BRCA1:c.3313C>T (p.Gln1105Ter) BRCA1:c.2929C>T (p.Gln977Ter) BRCA1:c.1213C>T (p.Gln405Ter) BRCA1:c.3817C>T (p.Gln1273Ter) BRCA1:c.3676C>T (p.Gln1226Ter) BRCA1:c.788-682C>T MLH1:c.355C>T (p.Arg119Cys) MLH1:c.-168C>T MLH1:c.-281C>T MLH1:c.-178C>T MLH1:c.649C>T (p.Arg217Cys) MLH1:c.550C>T (p.Arg184Cys) PALB2:c.1633G>T (p.Glu545Ter) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) PALB2:c.1240C>T (p.Arg414Ter) CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) MLH1:c.1043A>G (p.Gln348Arg) MLH1:c.992A>G (p.Gln331Arg) MLH1:c.1973A>G (p.Gln658Arg) MLH1:c.1967A>G (p.Gln656Arg) MLH1:c.1901A>G (p.Gln634Arg) MLH1:c.1896+1297A>G BRCA2:c.5934dup (p.Ser1979Ter) TP53:c.-9C>T TP53:c.271C>T (p.Leu91Phe) TP53:c.-90C>T BRCA2:c.4933_4935del (p.Lys1645del) BRCA1:c.2037delA (p.Ala680Hisfs) BRCA1:c.2274delA (p.Ala759Hisfs) BRCA1:c.1914delA (p.Ala639Hisfs) BRCA1:c.1530delA (p.Ala511Hisfs) BRCA1:c.2418delA (p.Ala807Hisfs) BRCA1:c.2418del (p.Ala807fs) BRCA1:c.2277del (p.Ala760fs) BRCA1:c.787+1631del ATM:c.652C>T (p.Gln218Ter) MSH6:c.3478G>A (p.Val1160Ile) MSH6:c.3088G>A (p.Val1030Ile) MSH6:c.2572G>A (p.Val858Ile) CHEK2:c.757A>G CHEK2:c.886A>G (p.Lys296Glu) CHEK2:c.94A>G (p.Lys32Glu) CHEK2:c.556A>G (p.Lys186Glu) CHEK2:c.757A>G (p.Lys253Glu) ATM:c.1049C>T (p.Ala350Val) PALB2:c.1192del (p.Val398fs) | sanger sequencing | point mutation | Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. Breast cancer research and treatment:2016 | |
PALB2 gene CDH1 gene ATM gene MUTYH gene APC gene CHEK2 gene TP53 gene BRCA2 gene BRCA1 gene | Colon Carcinoma Breast Carcinoma | 118 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) CDH1:c.1018A>G CDH1:c.1018A>G (p.Thr340Ala) CDH1:c.-598A>G CDH1:c.-802A>G CDH1:c.2494G>A CDH1:c.2311G>A (p.Val771Met) CDH1:c.946G>A (p.Val316Met) CDH1:c.529G>A (p.Val177Met) CDH1:c.2494G>A (p.Val832Met) BRCA1:c.3433C>T (p.Gln1145Ter) BRCA1:c.3049C>T (p.Gln1017Ter) BRCA1:c.1333C>T (p.Gln445Ter) BRCA1:c.3937C>T (p.Gln1313Ter) BRCA1:c.3796C>T (p.Gln1266Ter) BRCA1:c.788-562C>T BRCA1:c.5049+6T>C BRCA1:c.4986+6T>C BRCA1:c.4845+6T>C BRCA1:c.1674+6T>C BRCA2:c.4876_4877del (p.Asn1626fs) BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.9294C>G (p.Tyr3098Ter) BRCA2:c.7504C>T (p.Arg2502Cys) MSH6:c.2667G>T (p.Gln889His) MSH6:c.2277G>T (p.Gln759His) MSH6:c.1761G>T (p.Gln587His) PMS2:c.167A>G (p.Tyr56Cys) PMS2:c.572A>G (p.Tyr191Cys) PMS2:c.254A>G (p.Tyr85Cys) PMS2:c.263A>G (p.Tyr88Cys) PMS2:c.133-1818A>G PMS2:c.-347-15A>G TP53:c.241C>T (p.Arg81Ter) TP53:c.520C>T (p.Arg174Ter) TP53:c.160C>T (p.Arg54Ter) BRCA1:c.3712G>T (p.Glu1238Ter) BRCA1:c.1999G>T (p.Glu667Ter) BRCA1:c.1996G>T (p.Glu666Ter) BRCA1:c.1360G>T (p.Glu454Ter) BRCA1:c.1357G>T (p.Glu453Ter) BRCA1:c.1294G>T (p.Glu432Ter) BRCA1:c.427_436dup (p.Thr149Alafs) BRCA1:c.664_673dup (p.Thr228Alafs) BRCA1:c.304_313dup (p.Thr108Alafs) BRCA1:c.-81_-72dup BRCA1:c.808_817dup (p.Thr276Alafs) BRCA1:c.815_824dup (p.Thr276fs) BRCA1:c.674_683dup (p.Thr229fs) BRCA1:c.787+28_787+37dup PALB2:c.2674G>A (p.Glu892Lys) ATM:c.2932T>C (p.Ser978Pro) ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G PMS2:c.857A>G (p.Asp286Gly) PMS2:c.539A>G (p.Asp180Gly) PMS2:c.452A>G (p.Asp151Gly) PMS2:c.-77A>G PMS2:c.284A>G (p.Asp95Gly) PMS2:c.548A>G (p.Asp183Gly) PMS2:c.857A>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) BRIP1:c.1774T>G (p.Trp592Gly) BRCA2:c.6331_6332del (p.Lys2111fs) APC:c.479A>G (p.Lys160Arg) APC:c.374A>G (p.Lys125Arg) APC:c.449A>G (p.Lys150Arg) APC:c.272A>G (p.Lys91Arg) APC:c.-587A>G APC:c.449A>G CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T BRIP1:c.550G>T (p.Asp184Tyr) ATM:c.2927T>C (p.Val976Ala) MSH2:c.2048G>T MSH2:c.2048G>T (p.Gly683Val) MSH2:c.1850G>T (p.Gly617Val) MLH1:c.593T>C (p.Leu198Ser) MLH1:c.-137T>C MLH1:c.887T>C (p.Leu296Ser) MLH1:c.788T>C (p.Leu263Ser) MLH1:c.-36-5325T>C ATM:c.4148C>T (p.Ser1383Leu) BRIP1:c.3378A>C (p.Glu1126Asp) BRCA2:c.6176G>A (p.Ser2059Asn) CHEK2:c.1567C>T CHEK2:c.1696C>T (p.Arg566Cys) CHEK2:c.904C>T (p.Arg302Cys) CHEK2:c.1366C>T (p.Arg456Cys) CHEK2:c.1567C>T (p.Arg523Cys) CHEK2:c.1480C>T (p.Arg494Cys) APC:c.7525A>G (p.Met2509Val) APC:c.7501A>G (p.Met2501Val) APC:c.7396A>G (p.Met2466Val) APC:c.7387A>G (p.Met2463Val) APC:c.7348A>G (p.Met2450Val) APC:c.7294A>G (p.Met2432Val) APC:c.7198A>G (p.Met2400Val) APC:c.7168A>G (p.Met2390Val) APC:c.7093A>G (p.Met2365Val) APC:c.6991A>G (p.Met2331Val) APC:c.6622A>G (p.Met2208Val) BRCA2:c.1384G>T (p.Glu462Ter) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.6331_6332dup (p.Asn2113GlufsTer7) | Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. Breast cancer research and treatment:2017 | |||||
CHEK2 gene MUTYH gene PALB2 gene BRIP1 gene BARD1 gene RAD51C gene | Breast Carcinoma breast and ovarian cancer | 18 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) PALB2:c.3456dup (p.Pro1153fs) BRIP1:c.1372G>T (p.Glu458Ter) RAD51C:c.955C>T RAD51C:c.955C>T (p.Arg319Ter) RAD50:c.1336A>G (p.Lys446Glu) RAD50:c.1336A>G BARD1:c.2083G>A BARD1:c.2083G>A (p.Val695Ile) BARD1:c.2026G>A (p.Val676Ile) BARD1:c.730G>A (p.Val244Ile) BARD1:c.673G>A (p.Val225Ile) BARD1:c.544G>A (p.Val182Ile) BARD1:c.448C>T BARD1:c.448C>T (p.Arg150Ter) BARD1:c.391C>T (p.Arg131Ter) BARD1:c.158+27986C>T BARD1:c.215+15635C>T BARD1:c.364+10871C>T CHEK2:c.170C>T CHEK2:c.170C>T (p.Ser57Phe) CHEK2:c.-608C>T PALB2:c.2920A>G (p.Lys974Glu) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A PALB2:c.509_510del (p.Arg170fs) | frameshift nonsense mutation | Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2. Human pathology:2017 | ||||
TP53 gene BRIP1 gene CEP57 gene FANCI GENE FANCD2 gene RAD51C gene CHEK2 gene ATM gene | Malignant neoplasm of prostate lynch syndrome breast/ovarian cancer lynch hereditary breast/ovarian cancer | 121 | BRCA2:c.280C>T (p.Pro94Ser) MSH6:c.1729C>T (p.Arg577Cys) MSH6:c.1339C>T (p.Arg447Cys) MSH6:c.823C>T (p.Arg275Cys) ATM:c.4414T>G (p.Leu1472Val) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) ATM:c.649A>G (p.Ile217Val) ATM:c.2494C>T (p.Arg832Cys) ATM:c.1703G>T (p.Arg568Ile) BRCA2:c.8902A>G (p.Thr2968Ala) ATM:c.5890A>G (p.Lys1964Glu) ATM:c.641-1216T>C ATM:c.*39-1216T>C ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A ATM:c.670A>G (p.Lys224Glu) MSH2:c.1571G>A (p.Arg524His) MSH2:c.1373G>A (p.Arg458His) MSH2:c.1571G>A CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A ATM:c.5612C>T (p.Thr1871Ile) PMS2:c.2026A>G (p.Thr676Ala) PMS2:c.1864A>G (p.Thr622Ala) PMS2:c.1777A>G (p.Thr593Ala) PMS2:c.1621A>G (p.Thr541Ala) PMS2:c.1249A>G (p.Thr417Ala) PMS2:c.1609A>G (p.Thr537Ala) PMS2:c.2182A>G (p.Thr728Ala) PMS2:c.1873A>G (p.Thr625Ala) PMS2:c.2182A>G CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T BRCA2:c.6988A>G (p.Ile2330Val) BLM:c.43C>T BLM:c.43C>T (p.Arg15Cys) BLM:c.-1249C>T ATM:c.652C>T (p.Gln218Ter) RAD51C:c.890_899delTTGTTCCTGC RAD51C:c.890_899del (p.Leu297fs) ATM:c.995A>G (p.Tyr332Cys) CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C BRIP1:c.847T>C (p.Cys283Arg) PALB2:c.932A>G (p.Lys311Arg) CHEK2:c.824G>T (p.Gly275Val) CHEK2:c.32G>T (p.Gly11Val) CHEK2:c.494G>T (p.Gly165Val) CHEK2:c.695G>T (p.Gly232Val) CHEK2:c.695G>T FANCD2:c.2494+2T>C FANCD2:c.2383+2T>C | nucleaotide-sequencing | Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PLoS genetics:2018 | ||||
MSH6 gene MLH1 gene PMS2 gene XPC gene HNF1A gene MUTYH gene CHEK2 gene BRIP1 gene TP53 gene SMAD4 gene APC gene | Colorectal Carcinoma lynch syndrome | 98 | c.2050T>G c.714_720dup c.1194G>A | XPC:c.1001C>A (p.Pro334His) XPC:c.422C>A (p.Pro141His) XPC:c.983C>A (p.Pro328His) APC:c.3229C>T (p.Gln1077Ter) APC:c.3124C>T (p.Gln1042Ter) APC:c.3115C>T (p.Gln1039Ter) APC:c.3076C>T (p.Gln1026Ter) APC:c.3022C>T (p.Gln1008Ter) APC:c.2926C>T (p.Gln976Ter) APC:c.2896C>T (p.Gln966Ter) APC:c.2821C>T (p.Gln941Ter) APC:c.2719C>T (p.Gln907Ter) APC:c.2350C>T (p.Gln784Ter) APC:c.3199C>T MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) PMS2:c.1744G>A (p.Val582Met) PMS2:c.1993G>A (p.Val665Met) PMS2:c.1831G>A (p.Val611Met) PMS2:c.1588G>A (p.Val530Met) PMS2:c.1216G>A (p.Val406Met) PMS2:c.1576G>A (p.Val526Met) PMS2:c.2149G>A (p.Val717Met) PMS2:c.1840G>A (p.Val614Met) MUTYH:c.1192C>T (p.Arg398Cys) MUTYH:c.1276C>T (p.Arg426Cys) MUTYH:c.1237C>T (p.Arg413Cys) MUTYH:c.1225C>T (p.Arg409Cys) MUTYH:c.916C>T (p.Arg306Cys) MUTYH:c.847C>T (p.Arg283Cys) MUTYH:c.1267C>T (p.Arg423Cys) MSH6:c.1637_1638del (p.Glu546fs) MSH6:c.1247_1248del (p.Glu416fs) MSH6:c.731_732del (p.Glu244fs) MLH1:c.1127G>A (p.Arg376Gln) MLH1:c.398G>A (p.Arg133Gln) MLH1:c.347G>A (p.Arg116Gln) MLH1:c.1421G>A (p.Arg474Gln) MLH1:c.1322G>A (p.Arg441Gln) MLH1:c.1896+2T>C MLH1:c.1732-832T>C MLH1:c.822+2T>C MLH1:c.1173+2T>C MLH1:c.1797+2T>C MLH1:c.1602+2T>C MLH1:c.1847G>A (p.Trp616Ter) MLH1:c.1118G>A (p.Trp373Ter) MLH1:c.1067G>A (p.Trp356Ter) MLH1:c.2048G>A (p.Trp683Ter) MLH1:c.2042G>A (p.Trp681Ter) MLH1:c.1976G>A (p.Trp659Ter) MLH1:c.383G>A (p.Arg128Gln) MLH1:c.-140G>A MLH1:c.-253G>A MLH1:c.-150G>A MLH1:c.677G>A (p.Arg226Gln) MLH1:c.578G>A (p.Arg193Gln) MLH1:c.383G>T (p.Arg128Leu) MLH1:c.-140G>T MLH1:c.-253G>T MLH1:c.-150G>T MLH1:c.677G>T (p.Arg226Leu) MLH1:c.578G>T (p.Arg193Leu) PMS2:c.498G>T (p.Lys166Asn) PMS2:c.903G>T (p.Lys301Asn) PMS2:c.585G>T (p.Lys195Asn) PMS2:c.-31G>T PMS2:c.330G>T (p.Lys110Asn) PMS2:c.594G>T (p.Lys198Asn) ATM:c.2289T>A (p.Phe763Leu) BLM:c.2333C>G BLM:c.2333C>G (p.Ser778Cys) BLM:c.1208C>G (p.Ser403Cys) MUTYH:c.1143_1144dup (p.Glu382fs) MUTYH:c.1227_1228dup (p.Glu410fs) MUTYH:c.1188_1189dup (p.Glu397fs) MUTYH:c.1176_1177dup (p.Glu393fs) MUTYH:c.867_868dup (p.Glu290fs) MUTYH:c.798_799dup (p.Glu267fs) MUTYH:c.1218_1219dup (p.Glu407fs) NBN:c.1753T>C (p.Ser585Pro) NBN:c.1999T>C (p.Ser667Pro) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) FANCD2:c.4357C>A (p.Pro1453Thr) FANCD2:c.4396C>A (p.Pro1466Thr) FANCD2:c.4281+115C>A FANCD2:c.4170+115C>A FANCD2:c.*43+5268G>T SUFU:c.1105G>A (p.Val369Ile) APC:c.7015A>G (p.Ile2339Val) APC:c.6910A>G (p.Ile2304Val) APC:c.6901A>G (p.Ile2301Val) APC:c.6862A>G (p.Ile2288Val) APC:c.6808A>G (p.Ile2270Val) APC:c.6712A>G (p.Ile2238Val) APC:c.6682A>G (p.Ile2228Val) APC:c.6607A>G (p.Ile2203Val) APC:c.6505A>G (p.Ile2169Val) APC:c.6136A>G (p.Ile2046Val) APC:c.6985A>G MSH6:c.2281A>G (p.Arg761Gly) MSH6:c.1891A>G (p.Arg631Gly) MSH6:c.1375A>G (p.Arg459Gly) ATM:c.749G>A (p.Arg250Gln) ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A BRIP1:c.1871C>T (p.Ser624Leu) RAD51C:c.492T>G RAD51C:c.492T>G (p.Phe164Leu) PMS2:c.2026A>G (p.Thr676Ala) PMS2:c.1864A>G (p.Thr622Ala) PMS2:c.1777A>G (p.Thr593Ala) PMS2:c.1621A>G (p.Thr541Ala) PMS2:c.1249A>G (p.Thr417Ala) PMS2:c.1609A>G (p.Thr537Ala) PMS2:c.2182A>G (p.Thr728Ala) PMS2:c.1873A>G (p.Thr625Ala) PMS2:c.2182A>G BRIP1:c.1702_1703del (p.Asn568fs) PMS2:c.825A>G (p.Gln275=) PMS2:c.507A>G (p.Gln169=) PMS2:c.420A>G (p.Gln140=) PMS2:c.-109A>G PMS2:c.252A>G (p.Gln84=) PMS2:c.516A>G (p.Gln172=) FANCF:c.373G>A (p.Asp125Asn) FANCD2:c.78A>C (p.Gln26His) FANCD2:c.78A>C SMAD4:c.647A>G (p.Asn216Ser) CDH1:c.125C>T CDH1:c.125C>T (p.Pro42Leu) CDH1:c.-1491C>T CDH1:c.-1695C>T ERCC3:c.2080G>A (p.Ala694Thr) ERCC3:c.1888G>A (p.Ala630Thr) PMS2:c.825A>T (p.Gln275His) PMS2:c.507A>T (p.Gln169His) PMS2:c.420A>T (p.Gln140His) PMS2:c.-109A>T PMS2:c.252A>T (p.Gln84His) PMS2:c.516A>T (p.Gln172His) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A SMAD4:c.1194G>A (p.Trp398Ter) APC:c.1269G>A (p.Trp423Ter) APC:c.1299G>A (p.Trp433Ter) APC:c.1194G>A (p.Trp398Ter) APC:c.1185G>A (p.Trp395Ter) APC:c.1092G>A (p.Trp364Ter) APC:c.996G>A (p.Trp332Ter) APC:c.966G>A (p.Trp322Ter) APC:c.891G>A (p.Trp297Ter) APC:c.789G>A (p.Trp263Ter) APC:c.420G>A (p.Trp140Ter) | sanger sequencing | Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. PloS one:2018 | |||
RTEL1 gene POLH gene MAST1 gene CHEK2 gene ATM gene PALB2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma hereditary breast and ovarian cancer | 113 | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) PALB2:c.11C>T (p.Pro4Leu) PALB2:c.2903C>G (p.Ala968Gly) PALB2:c.3128G>C (p.Gly1043Ala) CHEK2:c.1196C>T (p.Ser399Leu) CHEK2:c.404C>T (p.Ser135Leu) CHEK2:c.866C>T (p.Ser289Leu) CHEK2:c.1067C>T (p.Ser356Leu) CHEK2:c.1009-1056C>T CHEK2:c.1067C>T CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) ATM:c.1009C>T (p.Arg337Cys) ATM:c.1010G>A (p.Arg337His) ATM:c.2770C>T (p.Arg924Trp) ATM:c.2932T>C (p.Ser978Pro) ATM:c.295A>G (p.Ser99Gly) ATM:c.4324T>C (p.Tyr1442His) ATM:c.4414T>G (p.Leu1472Val) ATM:c.5185G>C (p.Val1729Leu) ATM:c.5228C>T (p.Thr1743Ile) ATM:c.5882A>G (p.Tyr1961Cys) ATM:c.641-1208T>C ATM:c.*39-1208T>C ATM:c.5975A>C (p.Lys1992Thr) ATM:c.641-3396T>G ATM:c.*39-3396T>G ATM:c.610G>A (p.Gly204Arg) ATM:c.68G>A (p.Arg23Gln) ATM:c.7390T>C (p.Cys2464Arg) ATM:c.641-21225A>G ATM:c.*38+4924A>G CHEK2:c.1180G>A CHEK2:c.1309G>A (p.Glu437Lys) CHEK2:c.517G>A (p.Glu173Lys) CHEK2:c.979G>A (p.Glu327Lys) CHEK2:c.1180G>A (p.Glu394Lys) CHEK2:c.1093G>A (p.Glu365Lys) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) ATM:c.8495G>A (p.Arg2832His) ATM:c.641-36748C>T ATM:c.695-10527C>T ATM:c.2149C>T (p.Arg717Trp) ATM:c.5750G>C (p.Arg1917Thr) CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1725del (p.Thr576fs) CHEK2:c.933del (p.Thr312fs) CHEK2:c.1395del (p.Thr466fs) CHEK2:c.1596del (p.Thr533fs) CHEK2:c.1509del (p.Thr504fs) CHEK2:c.1596delC CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T CHEK2:c.685A>C CHEK2:c.556A>C CHEK2:c.685A>C (p.Asn229His) CHEK2:c.-222A>C CHEK2:c.556A>C (p.Asn186His) CHEK2:c.445-90A>C CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del ATM:c.8560C>T (p.Arg2854Cys) ATM:c.641-36813G>A ATM:c.695-10592G>A CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T PALB2:c.2257C>T (p.Arg753Ter) ATM:c.1464G>T (p.Trp488Cys) PALB2:c.3320T>C (p.Leu1107Pro) ATM:c.670A>G (p.Lys224Glu) CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) ATM:c.5753G>C (p.Arg1918Thr) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.1265G>A CHEK2:c.1394G>A (p.Ser465Asn) CHEK2:c.602G>A (p.Ser201Asn) CHEK2:c.1064G>A (p.Ser355Asn) CHEK2:c.1265G>A (p.Ser422Asn) CHEK2:c.1178G>A (p.Ser393Asn) CHEK2:c.1039G>A CHEK2:c.1168G>A (p.Asp390Asn) CHEK2:c.376G>A (p.Asp126Asn) CHEK2:c.838G>A (p.Asp280Asn) CHEK2:c.1039G>A (p.Asp347Asn) CHEK2:c.1009-1084G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CDKN2A:c.206A>G (p.Glu69Gly) CDKN2A:c.53A>G (p.Glu18Gly) CDKN2A:c.249A>G (p.Gly83=) CDKN2A:c.*129A>G ATM:c.1A>C (p.Met1Leu) PALB2:c.2336C>G (p.Ser779Ter) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del ATM:c.6115G>A (p.Glu2039Lys) ATM:c.641-6959C>T ATM:c.*39-6959C>T PALB2:c.2606C>G (p.Ser869Cys) ATM:c.3256C>T (p.Arg1086Cys) ATM:c.8138G>A (p.Arg2713Lys) ATM:c.641-26025C>T ATM:c.*38+124C>T PALB2:c.3494C>T (p.Ser1165Leu) PALB2:c.3350G>A (p.Arg1117Lys) PALB2:c.2325dup (p.Phe776fs) PALB2:c.487_488del PALB2:c.487_488del (p.Val163fs) ATM:c.1236-2A>T PALB2:c.2850del (p.Ser951fs) ATM:c.1595G>A (p.Cys532Tyr) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) ATM:c.6203T>C (p.Leu2068Ser) ATM:c.641-8306A>G ATM:c.*39-8306A>G PALB2:c.1595C>T (p.Pro532Leu) ATM:c.8624A>G (p.Asn2875Ser) ATM:c.641-38247T>C ATM:c.695-12026T>C FANCI:c.3466G>C (p.Gly1156Arg) FANCI:c.3187G>C (p.Gly1063Arg) FANCI:c.3286G>C (p.Gly1096Arg) ATM:c.4466G>A (p.Arg1489His) ATM:c.4853G>A (p.Arg1618Gln) ATM:c.5227A>T (p.Thr1743Ser) CHEK2:c.1003G>C CHEK2:c.1132G>C (p.Val378Leu) CHEK2:c.340G>C (p.Val114Leu) CHEK2:c.802G>C (p.Val268Leu) CHEK2:c.1003G>C (p.Val335Leu) ATM:c.4244A>G (p.Tyr1415Cys) PALB2:c.2750T>C (p.Val917Ala) FANCI:c.824T>C (p.Ile275Thr) FANCI:c.545T>C (p.Ile182Thr) ATM:c.6119C>T (p.Ala2040Val) ATM:c.641-6963G>A ATM:c.*39-6963G>A CHEK2:c.602T>C CHEK2:c.731T>C (p.Phe244Ser) CHEK2:c.-62T>C CHEK2:c.602T>C (p.Phe201Ser) CHEK2:c.482+5410T>C ATM:c.7999A>T (p.Met2667Leu) ATM:c.641-24886T>A ATM:c.*38+1263T>A ATM:c.6289G>T (p.Glu2097Ter) ATM:c.641-8392C>A ATM:c.*39-8392C>A CHEK2:c.692G>A CHEK2:c.821G>A (p.Cys274Tyr) CHEK2:c.29G>A (p.Cys10Tyr) CHEK2:c.491G>A (p.Cys164Tyr) CHEK2:c.692G>A (p.Cys231Tyr) RTEL1:c.1189C>G (p.Gln397Glu) RTEL1:c.1261C>G (p.Gln421Glu) RTEL1:c.520C>G (p.Gln174Glu) CHEK2:c.283C>G CHEK2:c.283C>G (p.Arg95Gly) CHEK2:c.-495C>G CHEK2:c.319G>A CHEK2:c.319G>A (p.Glu107Lys) CHEK2:c.-459G>A FANCI:c.3188A>T (p.Asp1063Val) FANCI:c.2909A>T (p.Asp970Val) FANCI:c.3008A>T (p.Asp1003Val) FANCI:c.3188A>T ATM:c.14T>G (p.Leu5Arg) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) | nucleaotide-sequencing | Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. International journal of cancer:2019 | ||||
NBN gene RAD51C gene PTEN gene PMS2 gene PALB2 gene HRAS gene FANCM gene FANCG gene CHEK2 gene CDH1 gene BRCA1 gene BLM gene ATM gene | Breast Carcinoma Malignant neoplasm of ovary breast and breast and ovarian cancer hereditary breast and | 237 | APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) NBN:c.411_415del (p.Lys137fs) NBN:c.657_661del (p.Lys219fs) CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) SMAD4:c.565C>T (p.Arg189Cys) BRCA2:c.7928C>T (p.Ala2643Val) PALB2:c.172_175del (p.Gln60fs) ATM:c.4324T>C (p.Tyr1442His) PMS2:c.1085G>A (p.Gly362Asp) PMS2:c.1334G>A (p.Gly445Asp) PMS2:c.1172G>A (p.Gly391Asp) PMS2:c.929G>A (p.Gly310Asp) PMS2:c.557G>A (p.Gly186Asp) PMS2:c.917G>A (p.Gly306Asp) PMS2:c.1490G>A (p.Gly497Asp) PMS2:c.1181G>A (p.Gly394Asp) SMAD4:c.424+5G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) BRIP1:c.1255C>T (p.Arg419Trp) RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.5645G>A (p.Arg1882Gln) CDH1:c.1137G>A CDH1:c.1137G>A (p.Thr379=) CDH1:c.-479G>A CDH1:c.-683G>A MSH6:c.2875C>T (p.Arg959Cys) MSH6:c.2485C>T (p.Arg829Cys) MSH6:c.1969C>T (p.Arg657Cys) APC:c.7628G>A (p.Arg2543His) APC:c.7604G>A (p.Arg2535His) APC:c.7499G>A (p.Arg2500His) APC:c.7490G>A (p.Arg2497His) APC:c.7451G>A (p.Arg2484His) APC:c.7397G>A (p.Arg2466His) APC:c.7301G>A (p.Arg2434His) APC:c.7271G>A (p.Arg2424His) APC:c.7196G>A (p.Arg2399His) APC:c.7094G>A (p.Arg2365His) APC:c.6725G>A (p.Arg2242His) BMPR1A:c.499A>G (p.Met167Val) MSH6:c.175C>A (p.Pro59Thr) MSH6:c.-562C>A MSH2:c.2211-6C>A MSH2:c.2013-6C>A FANCA:c.2602-9_2602-8del FANCA:c.2602-13CT[2] FANCM:c.1576C>G FANCM:c.1498C>G (p.Leu500Val) FANCM:c.1576C>G (p.Leu526Val) MSH2:c.2164G>A MSH2:c.2164G>A (p.Val722Ile) MSH2:c.1966G>A (p.Val656Ile) MLH1:c.766G>A (p.Gly256Ser) MLH1:c.37G>A (p.Gly13Ser) MLH1:c.-15G>A MLH1:c.1060G>A (p.Gly354Ser) MLH1:c.961G>A (p.Gly321Ser) BRCA1:c.4186_4357dup BRIP1:c.2623G>C (p.Glu875Gln) ATM:c.4631A>G (p.Tyr1544Cys) ATM:c.2818A>G (p.Lys940Glu) RAD51C:c.454G>T RAD51C:c.454G>T (p.Ala152Ser) ATM:c.4109+6T>G ATM:c.2141C>T (p.Thr714Ile) FANCM:c.1237T>C FANCM:c.1159T>C (p.Tyr387His) FANCM:c.1237T>C (p.Tyr413His) ATM:c.8821_8822TC[1] (p.Gln2942Glyfs) ATM:c.8823_8824del (p.Gln2942fs) ATM:c.640+31075_640+31076del ATM:c.695-19553_695-19552del FANCG:c.1182_1192delinsC FANCG:c.1182_1192delinsC (p.Glu395fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | nucleaotide-sequencing comparative genomic hybridization | The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants. International journal of cancer:2019 | ||||
CHEK2 gene | Neurodevelopmental Disorders hereditary breast and ovarian cancer | 400 | p.Arg160Gly | BRIP1:c.139C>G (p.Pro47Ala) BRCA1:c.2203A>G (p.Lys735Glu) BRCA1:c.2440A>G (p.Lys814Glu) BRCA1:c.2080A>G (p.Lys694Glu) BRCA1:c.1696A>G (p.Lys566Glu) BRCA1:c.2584A>G (p.Lys862Glu) BRCA1:c.2443A>G (p.Lys815Glu) BRCA1:c.787+1797A>G BRCA2:c.9592T>C (p.Cys3198Arg) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G BRCA2:c.1011C>T (p.Asn337=) BRCA2:c.7481G>A (p.Arg2494Gln) BRCA2:c.8723T>G (p.Val2908Gly) BRCA1:c.1037A>T (p.Asn346Ile) BRCA1:c.1274A>T (p.Asn425Ile) BRCA1:c.914A>T (p.Asn305Ile) BRCA1:c.530A>T (p.Asn177Ile) BRCA1:c.1418A>T (p.Asn473Ile) BRCA1:c.1277A>T (p.Asn426Ile) BRCA1:c.787+631A>T BRCA1:c.1803C>G (p.Val601=) BRCA1:c.1800C>G (p.Val600=) BRCA1:c.1758C>G (p.Val586=) BRCA1:c.189G>A (p.Thr63=) BRCA1:c.483G>A (p.Thr161=) BRCA1:c.693G>A (p.Thr231=) BRCA1:c.693G>A (p.Thr231_Asp232=) BRCA1:c.552G>A (p.Thr184_Asp185=) MSH6:c.1144C>T (p.His382Tyr) MSH6:c.754C>T (p.His252Tyr) MSH6:c.238C>T (p.His80Tyr) PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.3128G>C (p.Gly1043Ala) PALB2:c.656A>G (p.Asp219Gly) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) ATM:c.3925G>A (p.Ala1309Thr) ATM:c.4060C>A (p.Pro1354Thr) MSH6:c.3758T>A (p.Val1253Glu) MSH6:c.3368T>A (p.Val1123Glu) MSH6:c.2852T>A (p.Val951Glu) PMS2:c.1607C>T (p.Thr536Met) PMS2:c.1856C>T (p.Thr619Met) PMS2:c.1694C>T (p.Thr565Met) PMS2:c.1451C>T (p.Thr484Met) PMS2:c.1079C>T (p.Thr360Met) PMS2:c.1439C>T (p.Thr480Met) PMS2:c.2012C>T (p.Thr671Met) PMS2:c.1703C>T (p.Thr568Met) PMS2:c.2194G>A (p.Asp732Asn) PMS2:c.2032G>A (p.Asp678Asn) PMS2:c.1978G>A (p.Asp660Asn) PMS2:c.1789G>A (p.Asp597Asn) PMS2:c.1417G>A (p.Asp473Asn) PMS2:c.1777G>A (p.Asp593Asn) PMS2:c.2383G>A (p.Asp795Asn) PMS2:c.2041G>A (p.Asp681Asn) PMS2:c.2350G>A CDH1:c.1273G>A CDH1:c.-343G>A CDH1:c.-547G>A CDH1:c.1273G>A (p.Val425Ile) CDH1:c.1137+1185G>A CHEK2:c.1525C>T CHEK2:c.1654C>T (p.Pro552Ser) CHEK2:c.862C>T (p.Pro288Ser) CHEK2:c.1324C>T (p.Pro442Ser) CHEK2:c.1525C>T (p.Pro509Ser) CHEK2:c.1438C>T (p.Pro480Ser) TP53:c.*115T>G TP53:c.979T>G (p.Ser327Ala) TP53:c.*203T>G TP53:c.619T>G (p.Ser207Ala) TP53:c.1096T>G TP53:c.1096T>G (p.Ser366Ala) MSH2:c.775C>T MSH2:c.775C>T (p.Pro259Ser) MSH2:c.577C>T (p.Pro193Ser) PMS2:c.1663A>C (p.Lys555Gln) PMS2:c.1912A>C (p.Lys638Gln) PMS2:c.1750A>C (p.Lys584Gln) PMS2:c.1507A>C (p.Lys503Gln) PMS2:c.1135A>C (p.Lys379Gln) PMS2:c.1495A>C (p.Lys499Gln) PMS2:c.2068A>C (p.Lys690Gln) PMS2:c.1759A>C (p.Lys587Gln) NF1:c.7978A>G (p.Ile2660Val) NF1:c.8041A>G (p.Ile2681Val) RAD51C:c.335G>C (p.Gly112Ala) RAD51C:c.335G>C PALB2:c.3296C>G (p.Thr1099Arg) ATM:c.670A>G (p.Lys224Glu) PMS2:c.1087G>A (p.Val363Met) PMS2:c.925G>A (p.Val309Met) PMS2:c.838G>A (p.Val280Met) PMS2:c.682G>A (p.Val228Met) PMS2:c.310G>A (p.Val104Met) PMS2:c.670G>A (p.Val224Met) PMS2:c.1243G>A (p.Val415Met) PMS2:c.934G>A (p.Val312Met) PMS2:c.1243G>A NF1:c.*4T>C CHEK2:c.*2dupC CHEK2:c.*2dup CHEK2:c.846+4_846+7delAGTA CHEK2:c.846+4_846+7del CHEK2:c.645+4_645+7del CHEK2:c.183+4_183+7del CHEK2:c.975+4_975+7del NBN:c.1317A>G (p.Ile439Met) NBN:c.1071A>G (p.Ile357Met) ATM:c.3240C>A (p.Asp1080Glu) MSH2:c.1489A>G (p.Ile497Val) MSH2:c.1291A>G (p.Ile431Val) MSH2:c.1489A>G PALB2:c.3059A>G (p.Gln1020Arg) MLH1:c.358T>C (p.Ser120Pro) MLH1:c.-165T>C MLH1:c.-278T>C MLH1:c.-175T>C MLH1:c.652T>C (p.Ser218Pro) MLH1:c.553T>C (p.Ser185Pro) ATM:c.2275A>G (p.Ser759Gly) ATM:c.5189G>A (p.Arg1730Gln) BRIP1:c.1629-3T>C MSH2:c.2205C>T MSH2:c.2205C>T (p.Ile735=) MSH2:c.2007C>T (p.Ile669=) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.-429A>G (n.-429A>G) | nucleaotide-sequencing Exome sequencing | Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. Swiss medical weekly:2019 | |||
RAD51D gene ATM gene MLH1 gene CHEK2 gene | Carcinoma of bladder Breast Carcinoma Malignant neoplasm of prostate Pancreatic Ductal Adenocarcinoma Malignant Neoplasms malignant melanoma | 118 | BRCA1:c.3425C>A (p.Thr1142Lys) BRCA1:c.3041C>A (p.Thr1014Lys) BRCA1:c.1325C>A (p.Thr442Lys) BRCA1:c.3929C>A (p.Thr1310Lys) BRCA1:c.3788C>A (p.Thr1263Lys) BRCA1:c.788-570C>A BLM:c.11T>C BLM:c.11T>C (p.Val4Ala) BLM:c.-1281T>C CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) ATM:c.3208G>A (p.Val1070Ile) PTCH1:c.2597G>A PTCH1:c.2597G>A (p.Gly866Glu) PTCH1:c.2399G>A (p.Gly800Glu) PTCH1:c.2594G>A (p.Gly865Glu) PTCH1:c.2144G>A (p.Gly715Glu) PTCH1:c.2441G>A (p.Gly814Glu) ATM:c.3850del (p.Thr1284fs) PTCH1:c.3376G>A PTCH1:c.3376G>A (p.Val1126Ile) PTCH1:c.3178G>A (p.Val1060Ile) PTCH1:c.3373G>A (p.Val1125Ile) PTCH1:c.2923G>A (p.Val975Ile) PTCH1:c.3220G>A (p.Val1074Ile) SETX:c.967A>G SETX:c.967A>G (p.Ser323Gly) | Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations. Cancer management and research:2019 | |||||
CHEK2 gene | mendelian cancer testicular germ cell tumors | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) FANCC:c.166-4_166-1dupACAG FANCC:c.166-4_166-1dup BARD1:c.1620delA BARD1:c.1620del BARD1:c.1620del (p.Lys540fs) BARD1:c.1563del (p.Lys521fs) BARD1:c.267del (p.Lys89fs) BARD1:c.210del (p.Lys70fs) BARD1:c.365-21996del BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. JAMA oncology:2019 | ||||||
SLC34A2 gene RAD54L gene POLQ gene FAN1 gene RAD51C gene PMS2 gene MUTYH gene CHEK2 gene TP53 gene BRCA2 gene | Malignant neoplasm of ovary breast and ovarian cancer drosha hereditary breast and ovarian cancer breast and | 52 | c.149T>G | CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T RAD51C:c.890_899delTTGTTCCTGC RAD51C:c.890_899del (p.Leu297fs) FANCE:c.329C>T (p.Pro110Leu) | nucleaotide-sequencing | Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Human mutation:2021 |
Gene | Symptoms or Disease | Total Cases | Variations from text | Variations from curated data | Molecular Consequences | Citation |
---|---|---|---|---|---|---|
BRCA2 gene BRCA1 gene CHEK2 gene | Breast Carcinoma | 1303 | CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.539G>A CHEK2:c.668G>A (p.Arg223His) CHEK2:c.-239G>A CHEK2:c.539G>A (p.Arg180His) CHEK2:c.445-107G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1336A>G CHEK2:c.1465A>G (p.Asn489Asp) CHEK2:c.673A>G (p.Asn225Asp) CHEK2:c.1135A>G (p.Asn379Asp) CHEK2:c.1336A>G (p.Asn446Asp) CHEK2:c.1249A>G (p.Asn417Asp) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1343T>G CHEK2:c.1472T>G CHEK2:c.1472T>G (p.Ile491Ser) CHEK2:c.680T>G (p.Ile227Ser) CHEK2:c.1142T>G (p.Ile381Ser) CHEK2:c.1343T>G (p.Ile448Ser) CHEK2:c.1256T>G (p.Ile419Ser) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.856T>C (p.Cys286Arg) CHEK2:c.64T>C (p.Cys22Arg) CHEK2:c.526T>C (p.Cys176Arg) CHEK2:c.727T>C (p.Cys243Arg) CHEK2:c.727T>C CHEK2:c.856T>C CHEK2:c.1451C>T CHEK2:c.1580C>T (p.Pro527Leu) CHEK2:c.788C>T (p.Pro263Leu) CHEK2:c.1250C>T (p.Pro417Leu) CHEK2:c.1451C>T (p.Pro484Leu) CHEK2:c.1364C>T (p.Pro455Leu) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.911T>C CHEK2:c.1040T>C (p.Met347Thr) CHEK2:c.248T>C (p.Met83Thr) CHEK2:c.710T>C (p.Met237Thr) CHEK2:c.911T>C (p.Met304Thr) CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.1036C>T CHEK2:c.1165C>T (p.Arg389Cys) CHEK2:c.373C>T (p.Arg125Cys) CHEK2:c.835C>T (p.Arg279Cys) CHEK2:c.1036C>T (p.Arg346Cys) CHEK2:c.1009-1087C>T CHEK2:c.931G>A CHEK2:c.1060G>A (p.Asp354Asn) CHEK2:c.268G>A (p.Asp90Asn) CHEK2:c.730G>A (p.Asp244Asn) CHEK2:c.931G>A (p.Asp311Asn) CHEK2:c.663C>G CHEK2:c.792C>G (p.Ile264Met) CHEK2:c.-1C>G CHEK2:c.663C>G (p.Ile221Met) CHEK2:c.482+5471C>G CHEK2:c.1216C>T CHEK2:c.1345C>T (p.Arg449Cys) CHEK2:c.553C>T (p.Arg185Cys) CHEK2:c.1015C>T (p.Arg339Cys) CHEK2:c.1216C>T (p.Arg406Cys) CHEK2:c.1129C>T (p.Arg377Cys) CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A CHEK2:c.1182A>T CHEK2:c.1311A>T (p.Glu437Asp) CHEK2:c.519A>T (p.Glu173Asp) CHEK2:c.981A>T (p.Glu327Asp) CHEK2:c.1182A>T (p.Glu394Asp) CHEK2:c.1095A>T (p.Glu365Asp) CHEK2:c.688G>T CHEK2:c.817G>T (p.Ala273Ser) CHEK2:c.25G>T (p.Ala9Ser) CHEK2:c.487G>T (p.Ala163Ser) CHEK2:c.688G>T (p.Ala230Ser) CHEK2:c.1166G>T (p.Arg389Leu) CHEK2:c.374G>T (p.Arg125Leu) CHEK2:c.836G>T (p.Arg279Leu) CHEK2:c.1037G>T (p.Arg346Leu) CHEK2:c.1009-1086G>T CHEK2:c.1037G>T CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CHEK2:c.1229_1230del (p.Thr410fs) CHEK2:c.437_438del (p.Thr146fs) CHEK2:c.899_900del (p.Thr300fs) CHEK2:c.1100_1101del (p.Thr367fs) CHEK2:c.1013_1014del (p.Thr338fs) CHEK2:c.405delA CHEK2:c.534del (p.Lys178fs) CHEK2:c.-373del CHEK2:c.405del (p.Lys135fs) CHEK2:c.1528C>T CHEK2:c.1657C>T (p.Gln553Ter) CHEK2:c.865C>T (p.Gln289Ter) CHEK2:c.1327C>T (p.Gln443Ter) CHEK2:c.1528C>T (p.Gln510Ter) CHEK2:c.1441C>T (p.Gln481Ter) CHEK2:c.1276C>T CHEK2:c.1405C>T (p.Pro469Ser) CHEK2:c.613C>T (p.Pro205Ser) CHEK2:c.1075C>T (p.Pro359Ser) CHEK2:c.1276C>T (p.Pro426Ser) CHEK2:c.1189C>T (p.Pro397Ser) | premature stop | Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast cancer research : BCR:2011 | |
CHEK2 gene | Breast Carcinoma | 420 | p.Ile157Thr c.1100delC | CHEK2:c.1008+1G>C CHEK2:c.807+1G>C CHEK2:c.345+1G>C CHEK2:c.1137+1G>C CHEK2:c.1489_1490insCA (p.Glu497fs) CHEK2:c.697_698insCA (p.Glu233fs) CHEK2:c.1159_1160insCA (p.Glu387fs) CHEK2:c.1360_1361insCA (p.Glu454fs) CHEK2:c.1273_1274insCA (p.Glu425fs) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.715G>T CHEK2:c.844G>T (p.Glu282Ter) CHEK2:c.52G>T (p.Glu18Ter) CHEK2:c.514G>T (p.Glu172Ter) CHEK2:c.715G>T (p.Glu239Ter) CHEK2:c.1259+1G>C CHEK2:c.1172+1G>C CHEK2:c.1058+1G>C CHEK2:c.596+1G>C CHEK2:c.1388+1G>C CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.58C>T CHEK2:c.58C>T (p.Gln20Ter) CHEK2:c.-720C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.1260-1G>A CHEK2:c.1173-1G>A CHEK2:c.1059-1G>A CHEK2:c.597-1G>A CHEK2:c.1389-1G>A CHEK2:c.1140C>A (p.Tyr380Ter) CHEK2:c.348C>A (p.Tyr116Ter) CHEK2:c.810C>A (p.Tyr270Ter) CHEK2:c.1011C>A (p.Tyr337Ter) CHEK2:c.1009-1112C>A CHEK2:c.1011C>A CHEK2:c.902delT CHEK2:c.1031del (p.Leu344fs) CHEK2:c.239del (p.Leu80fs) CHEK2:c.701del (p.Leu234fs) CHEK2:c.902del (p.Leu301fs) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.790_793dup (p.Met265fs) CHEK2:c.-3_1dup (p.Met1fs) CHEK2:c.661_664dup (p.Met222fs) CHEK2:c.482+5469_482+5472dup CHEK2:c.661_664dupATCA CHEK2:c.655delG CHEK2:c.784del (p.Glu262fs) CHEK2:c.-9del CHEK2:c.655del (p.Glu219fs) CHEK2:c.482+5463del CHEK2:c.593-1G>A CHEK2:c.482+5400G>A CHEK2:c.-71-1G>A CHEK2:c.722-1G>A CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.85C>T CHEK2:c.85C>T (p.Gln29Ter) CHEK2:c.-693C>T CHEK2:c.593-1G>T CHEK2:c.482+5400G>T CHEK2:c.-71-1G>T CHEK2:c.722-1G>T CHEK2:c.846+1G>C CHEK2:c.645+1G>C CHEK2:c.183+1G>C CHEK2:c.975+1G>C CHEK2:c.792+2T>C CHEK2:c.591+2T>C CHEK2:c.129+2T>C CHEK2:c.921+2T>C CHEK2:c.1232G>A CHEK2:c.1361G>A (p.Trp454Ter) CHEK2:c.569G>A (p.Trp190Ter) CHEK2:c.1031G>A (p.Trp344Ter) CHEK2:c.1232G>A (p.Trp411Ter) CHEK2:c.1145G>A (p.Trp382Ter) CHEK2:c.372delC CHEK2:c.501del (p.Phe168fs) CHEK2:c.-406del CHEK2:c.372del (p.Phe125fs) CHEK2:c.276dupC CHEK2:c.276dup (p.Trp93fs) CHEK2:c.-502dup CHEK2:c.1486C>T CHEK2:c.1615C>T (p.Gln539Ter) CHEK2:c.823C>T (p.Gln275Ter) CHEK2:c.1285C>T (p.Gln429Ter) CHEK2:c.1486C>T (p.Gln496Ter) CHEK2:c.1399C>T (p.Gln467Ter) CHEK2:c.1376-1G>A CHEK2:c.1289-1G>A CHEK2:c.1175-1G>A CHEK2:c.713-1G>A CHEK2:c.1505-1G>A CHEK2:c.1375+1_1375+2delGT CHEK2:c.1288+1_1288+2del CHEK2:c.1174+1_1174+2del CHEK2:c.1375+1_1375+2del CHEK2:c.712+1_712+2del CHEK2:c.1504+1_1504+2del CHEK2:c.1315C>T CHEK2:c.1444C>T (p.Gln482Ter) CHEK2:c.652C>T (p.Gln218Ter) CHEK2:c.1114C>T (p.Gln372Ter) CHEK2:c.1315C>T (p.Gln439Ter) CHEK2:c.1228C>T (p.Gln410Ter) CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A CHEK2:c.920delG CHEK2:c.1049del (p.Gly350fs) CHEK2:c.257del (p.Gly86fs) CHEK2:c.719del (p.Gly240fs) CHEK2:c.920del (p.Gly307fs) CHEK2:c.875_876delTT CHEK2:c.1004_1005del (p.Phe334_Phe335insTer) CHEK2:c.212_213del (p.Phe70_Phe71insTer) CHEK2:c.674_675del (p.Phe224_Phe225insTer) CHEK2:c.875_876del (p.Phe291_Phe292insTer) CHEK2:c.876dupT CHEK2:c.1005dup (p.Asp336Ter) CHEK2:c.213dup (p.Asp72Ter) CHEK2:c.675dup (p.Asp226Ter) CHEK2:c.876dup (p.Asp293Ter) CHEK2:c.304G>T CHEK2:c.304G>T (p.Gly102Ter) CHEK2:c.-474G>T CHEK2:c.14_20delCGGATGT CHEK2:c.14_20del (p.Ser5fs) CHEK2:c.-764_-758del CHEK2:c.1201C>T (p.Gln401Ter) CHEK2:c.409C>T (p.Gln137Ter) CHEK2:c.871C>T (p.Gln291Ter) CHEK2:c.1072C>T (p.Gln358Ter) CHEK2:c.1009-1051C>T CHEK2:c.1072C>T CHEK2:c.683+1G>C CHEK2:c.482+5492G>C CHEK2:c.20+1G>C CHEK2:c.812+1G>C CHEK2:c.606delT CHEK2:c.735del (p.Phe245fs) CHEK2:c.-58del CHEK2:c.606del (p.Phe202fs) CHEK2:c.482+5414del CHEK2:c.507delT CHEK2:c.636del (p.Phe212fs) CHEK2:c.-271del CHEK2:c.507del (p.Phe169fs) CHEK2:c.445-139del CHEK2:c.1462-1G>A CHEK2:c.1375-1G>A CHEK2:c.1261-1G>A CHEK2:c.799-1G>A CHEK2:c.1591-1G>A CHEK2:c.1376-1G>C CHEK2:c.1289-1G>C CHEK2:c.1175-1G>C CHEK2:c.713-1G>C CHEK2:c.1505-1G>C CHEK2:c.1139_1140delTC CHEK2:c.1268_1269del (p.Leu423fs) CHEK2:c.476_477del (p.Leu159fs) CHEK2:c.938_939del (p.Leu313fs) CHEK2:c.1139_1140del (p.Leu380fs) CHEK2:c.1052_1053del (p.Leu351fs) CHEK2:c.783_784delAA CHEK2:c.912_913del (p.Glu306fs) CHEK2:c.120_121del (p.Glu42fs) CHEK2:c.582_583del (p.Glu196fs) CHEK2:c.783_784del (p.Glu263fs) CHEK2:c.673dupA CHEK2:c.802dup (p.Thr268fs) CHEK2:c.10dup (p.Thr4fs) CHEK2:c.673dup (p.Thr225fs) CHEK2:c.482+5477dup CHEK2:c.31dupC CHEK2:c.31dup (p.Gln11fs) CHEK2:c.-747dup CHEK2:c.444+2T>C CHEK2:c.-334+2T>C CHEK2:c.573+2T>C CHEK2:c.282delT CHEK2:c.282del (p.Arg95fs) CHEK2:c.-496del CHEK2:c.1009-2A>G CHEK2:c.1009-1116A>G CHEK2:c.808-2A>G CHEK2:c.346-2A>G CHEK2:c.1138-2A>G CHEK2:c.417C>A CHEK2:c.546C>A (p.Tyr182Ter) CHEK2:c.-361C>A CHEK2:c.417C>A (p.Tyr139Ter) CHEK2:c.1259+2delT CHEK2:c.1172+2del CHEK2:c.1058+2del CHEK2:c.1259+2del CHEK2:c.596+2del CHEK2:c.1388+2del CHEK2:c.870del CHEK2:c.999del (p.Phe335fs) CHEK2:c.207del (p.Phe71fs) CHEK2:c.669del (p.Phe225fs) CHEK2:c.870del (p.Phe292fs) CHEK2:c.366delA CHEK2:c.495del (p.Glu165fs) CHEK2:c.-412del CHEK2:c.366del (p.Glu122fs) CHEK2:c.247C>T CHEK2:c.247C>T (p.Gln83Ter) CHEK2:c.-531C>T CHEK2:c.219_223delTATTC CHEK2:c.219_223del (p.Ser73_Ile74insTer) CHEK2:c.-564TATTC[1] CHEK2:c.109_119delGGCATATCCAG CHEK2:c.109_119del (p.Gly37fs) CHEK2:c.-669_-659del CHEK2:c.762delG CHEK2:c.891del (p.Lys298fs) CHEK2:c.99del (p.Lys34fs) CHEK2:c.561del (p.Lys188fs) CHEK2:c.762del (p.Lys255fs) CHEK2:c.326_327delTG CHEK2:c.455_456del (p.Val152fs) CHEK2:c.-456TG[2] CHEK2:c.326_327del (p.Val109fs) CHEK2:c.1163_1164dup CHEK2:c.1292_1293dup (p.Thr432fs) CHEK2:c.500_501dup (p.Thr168fs) CHEK2:c.962_963dup (p.Thr322fs) CHEK2:c.1163_1164dup (p.Thr389fs) CHEK2:c.1076_1077dup (p.Thr360fs) CHEK2:c.1008+1G>T CHEK2:c.807+1G>T CHEK2:c.345+1G>T CHEK2:c.1137+1G>T CHEK2:c.319+1G>C CHEK2:c.-459+1G>C CHEK2:c.616_617delGT CHEK2:c.745_746del (p.Val249fs) CHEK2:c.-48_-47del CHEK2:c.616_617del (p.Val206fs) CHEK2:c.482+5424_482+5425del CHEK2:c.529A>T CHEK2:c.658A>T (p.Lys220Ter) CHEK2:c.-249A>T CHEK2:c.529A>T (p.Lys177Ter) CHEK2:c.445-117A>T CHEK2:c.793-2A>G CHEK2:c.592-2A>G CHEK2:c.130-2A>G CHEK2:c.922-2A>G CHEK2:c.792+1G>A CHEK2:c.591+1G>A CHEK2:c.129+1G>A CHEK2:c.921+1G>A CHEK2:c.757A>T CHEK2:c.886A>T (p.Lys296Ter) CHEK2:c.94A>T (p.Lys32Ter) CHEK2:c.556A>T (p.Lys186Ter) CHEK2:c.757A>T (p.Lys253Ter) CHEK2:c.1375+2T>A CHEK2:c.1288+2T>A CHEK2:c.1174+2T>A CHEK2:c.712+2T>A CHEK2:c.1504+2T>A CHEK2:c.151C>T CHEK2:c.151C>T (p.Gln51Ter) CHEK2:c.-627C>T CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1443_1444delAA CHEK2:c.1572_1573del (p.Arg525fs) CHEK2:c.780_781del (p.Arg261fs) CHEK2:c.1242_1243del (p.Arg415fs) CHEK2:c.1443_1444del (p.Arg482fs) CHEK2:c.1356_1357del (p.Arg453fs) CHEK2:c.1063delC CHEK2:c.1192del (p.Leu398fs) CHEK2:c.400del (p.Leu134fs) CHEK2:c.862del (p.Leu288fs) CHEK2:c.1063del (p.Leu355fs) CHEK2:c.1009-1060del CHEK2:c.468C>A CHEK2:c.597C>A (p.Tyr199Ter) CHEK2:c.-310C>A CHEK2:c.468C>A (p.Tyr156Ter) CHEK2:c.444+142C>A CHEK2:c.1096-1G>T CHEK2:c.1009-1G>T CHEK2:c.895-1G>T CHEK2:c.433-1G>T CHEK2:c.1225-1G>T CHEK2:c.448delG CHEK2:c.577del (p.Val193fs) CHEK2:c.-330del CHEK2:c.448del (p.Val150fs) CHEK2:c.444+122del CHEK2:c.292delG CHEK2:c.292del (p.Ala98fs) CHEK2:c.-486del CHEK2:c.1096delA CHEK2:c.1225del (p.Ile409fs) CHEK2:c.433del (p.Ile145fs) CHEK2:c.895del (p.Ile299fs) CHEK2:c.1096del (p.Ile366fs) CHEK2:c.1009del (p.Ile337fs) CHEK2:c.836delA CHEK2:c.965del (p.Lys322fs) CHEK2:c.173del (p.Lys58fs) CHEK2:c.635del (p.Lys212fs) CHEK2:c.836del (p.Lys279fs) CHEK2:c.1454G>A CHEK2:c.1583G>A (p.Trp528Ter) CHEK2:c.791G>A (p.Trp264Ter) CHEK2:c.1253G>A (p.Trp418Ter) CHEK2:c.1454G>A (p.Trp485Ter) CHEK2:c.1367G>A (p.Trp456Ter) CHEK2:c.1188_1194dupTGTTTCT CHEK2:c.1317_1323dup (p.Val442fs) CHEK2:c.525_531dup (p.Val178fs) CHEK2:c.987_993dup (p.Val332fs) CHEK2:c.1188_1194dup (p.Val399fs) CHEK2:c.1101_1107dup (p.Val370fs) CHEK2:c.1022delA CHEK2:c.1151del (p.Asn384fs) CHEK2:c.359del (p.Asn120fs) CHEK2:c.821del (p.Asn274fs) CHEK2:c.1022del (p.Asn341fs) CHEK2:c.1009-1101del CHEK2:c.683+2T>C CHEK2:c.482+5493T>C CHEK2:c.20+2T>C CHEK2:c.812+2T>C CHEK2:c.383delC CHEK2:c.512del (p.Pro171fs) CHEK2:c.-395del CHEK2:c.383del (p.Pro128fs) CHEK2:c.161_164delACTC CHEK2:c.161_164del (p.His54fs) CHEK2:c.-617_-614del CHEK2:c.1007delA CHEK2:c.1136del (p.Gln379fs) CHEK2:c.344del (p.Gln115fs) CHEK2:c.806del (p.Gln269fs) CHEK2:c.1007del (p.Gln336fs) CHEK2:c.1114del (p.Tyr372fs) CHEK2:c.322del (p.Tyr108fs) CHEK2:c.784del (p.Tyr262fs) CHEK2:c.985del (p.Tyr329fs) CHEK2:c.985delT CHEK2:c.908+1_908+8delinsTT CHEK2:c.707+1_707+8delinsTT CHEK2:c.245+1_245+8delinsTT CHEK2:c.1037+1_1037+8delinsTT CHEK2:c.1347delT CHEK2:c.1476del (p.Glu493fs) CHEK2:c.684del (p.Glu229fs) CHEK2:c.1146del (p.Glu383fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.1260del (p.Glu421fs) CHEK2:c.1335_1336delCAinsAC CHEK2:c.1464_1465delinsAC (p.Tyr488_Asn489delinsTer) CHEK2:c.672_673delinsAC (p.Tyr224_Asn225delinsTer) CHEK2:c.1134_1135delinsAC (p.Tyr378_Asn379delinsTer) CHEK2:c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) CHEK2:c.1248_1249delinsAC (p.Tyr416_Asn417delinsTer) CHEK2:c.1049delC CHEK2:c.1178del (p.Pro393fs) CHEK2:c.386del (p.Pro129fs) CHEK2:c.848del (p.Pro283fs) CHEK2:c.1049del (p.Pro350fs) CHEK2:c.1009-1074del CHEK2:c.1019_1034del CHEK2:c.1148_1163del (p.Glu383fs) CHEK2:c.356_371del (p.Glu119fs) CHEK2:c.818_833del (p.Glu273fs) CHEK2:c.1019_1034del (p.Glu340fs) CHEK2:c.1009-1104_1009-1089del CHEK2:c.990del CHEK2:c.1119del (p.Met374fs) CHEK2:c.327del (p.Met110fs) CHEK2:c.789del (p.Met264fs) CHEK2:c.990del (p.Met331fs) CHEK2:c.655G>T CHEK2:c.784G>T (p.Glu262Ter) CHEK2:c.-9G>T CHEK2:c.655G>T (p.Glu219Ter) CHEK2:c.482+5463G>T CHEK2:c.537C>A (p.Tyr179Ter) CHEK2:c.-370C>A CHEK2:c.408C>A (p.Tyr136Ter) CHEK2:c.408C>A CHEK2:c.269delC CHEK2:c.269del (p.Pro90fs) CHEK2:c.-509del CHEK2:c.181delA CHEK2:c.181del (p.Ser61fs) CHEK2:c.-597del CHEK2:c.78_85delCCAGTCCC CHEK2:c.78_85del (p.Gln27fs) CHEK2:c.-700_-693del CHEK2:c.-747C>T CHEK2:c.31C>T (p.Gln11Ter) CHEK2:c.31C>T CHEK2:c.593-1G>C CHEK2:c.482+5400G>C CHEK2:c.-71-1G>C CHEK2:c.722-1G>C CHEK2:c.319+1G>T CHEK2:c.-459+1G>T CHEK2:c.592+1G>A CHEK2:c.445-53G>A CHEK2:c.-186+1G>A CHEK2:c.721+1G>A CHEK2:c.1461+2delT CHEK2:c.1374+2del CHEK2:c.1260+2del CHEK2:c.1461+2del CHEK2:c.798+2del CHEK2:c.1590+2del CHEK2:c.1260-24_1263delCTTTCTCTCTCTACCAATATTAAGCCTT CHEK2:c.1173-24_1176del CHEK2:c.1059-24_1062del CHEK2:c.1260-24_1263del CHEK2:c.597-24_600del CHEK2:c.1389-24_1392del CHEK2:c.1344delT CHEK2:c.1473del (p.Pro492fs) CHEK2:c.681del (p.Pro228fs) CHEK2:c.1143del (p.Pro382fs) CHEK2:c.1344del (p.Pro449fs) CHEK2:c.1257del (p.Pro420fs) CHEK2:c.1334dupA CHEK2:c.1463dup (p.Tyr488Ter) CHEK2:c.671dup (p.Tyr224Ter) CHEK2:c.1133dup (p.Tyr378Ter) CHEK2:c.1334dup (p.Tyr445Ter) CHEK2:c.1247dup (p.Tyr416Ter) CHEK2:c.696dupA CHEK2:c.825dup (p.Glu276fs) CHEK2:c.33dup (p.Glu12fs) CHEK2:c.495dup (p.Glu166fs) CHEK2:c.696dup (p.Glu233fs) CHEK2:c.673delA CHEK2:c.802del (p.Thr268fs) CHEK2:c.10del (p.Thr4fs) CHEK2:c.673del (p.Thr225fs) CHEK2:c.482+5481del CHEK2:c.360delC CHEK2:c.489del (p.Cys164fs) CHEK2:c.-418del CHEK2:c.360del (p.Cys121fs) CHEK2:c.1288+1G>C CHEK2:c.1174+1G>C CHEK2:c.1375+1G>C CHEK2:c.712+1G>C CHEK2:c.1504+1G>C CHEK2:c.908+2T>C CHEK2:c.707+2T>C CHEK2:c.245+2T>C CHEK2:c.1037+2T>C CHEK2:c.1118dup CHEK2:c.1247dup (p.Ile417fs) CHEK2:c.455dup (p.Ile153fs) CHEK2:c.917dup (p.Ile307fs) CHEK2:c.1118dup (p.Ile374fs) CHEK2:c.1031dup (p.Ile345fs) CHEK2:c.948del CHEK2:c.1077del (p.Asn359fs) CHEK2:c.285del (p.Asn95fs) CHEK2:c.747del (p.Asn249fs) CHEK2:c.948del (p.Asn316fs) CHEK2:c.581del (p.Gly194fs) CHEK2:c.-326del CHEK2:c.452del (p.Gly151fs) CHEK2:c.444+126del CHEK2:c.452del CHEK2:c.397del CHEK2:c.526del (p.Thr176fs) CHEK2:c.-381del CHEK2:c.397del (p.Thr133fs) CHEK2:c.305del CHEK2:c.305del (p.Gly102fs) CHEK2:c.-473del CHEK2:c.291G>A CHEK2:c.291G>A (p.Trp97Ter) CHEK2:c.-487G>A CHEK2:c.234_262del CHEK2:c.234_262del (p.Gln78fs) CHEK2:c.-544_-516del CHEK2:c.199del CHEK2:c.199del (p.Ser67fs) CHEK2:c.-579del CHEK2:c.183del (p.Ser62fs) CHEK2:c.-595del CHEK2:c.183del CHEK2:c.1260-1G>T CHEK2:c.1173-1G>T CHEK2:c.1059-1G>T CHEK2:c.597-1G>T CHEK2:c.1389-1G>T CHEK2:c.1172T>G (p.Leu391Ter) CHEK2:c.380T>G (p.Leu127Ter) CHEK2:c.842T>G (p.Leu281Ter) CHEK2:c.1043T>G (p.Leu348Ter) CHEK2:c.1009-1080T>G CHEK2:c.1043T>G CHEK2:c.1430del CHEK2:c.1559del (p.Thr520fs) CHEK2:c.767del (p.Thr256fs) CHEK2:c.1430del (p.Thr477fs) CHEK2:c.1343del (p.Thr448fs) CHEK2:c.1371_1372del CHEK2:c.1500_1501del (p.Lys501fs) CHEK2:c.708_709del (p.Lys237fs) CHEK2:c.1170_1171del (p.Lys391fs) CHEK2:c.1371_1372del (p.Lys458fs) CHEK2:c.1284_1285del (p.Lys429fs) CHEK2:c.906del CHEK2:c.1035del (p.Glu345fs) CHEK2:c.243del (p.Glu81fs) CHEK2:c.705del (p.Glu235fs) CHEK2:c.906del (p.Glu302fs) CHEK2:c.842dup CHEK2:c.971dup (p.Asn324fs) CHEK2:c.179dup (p.Asn60fs) CHEK2:c.641dup (p.Asn214fs) CHEK2:c.842dup (p.Asn281fs) CHEK2:c.806_807del CHEK2:c.935_936del (p.Asn312fs) CHEK2:c.143_144del (p.Asn48fs) CHEK2:c.605_606del (p.Asn202fs) CHEK2:c.806_807del (p.Asn269fs) CHEK2:c.543_549del CHEK2:c.672_678del (p.Pro225fs) CHEK2:c.-235_-229del CHEK2:c.543_549del (p.Pro182fs) CHEK2:c.445-103_445-97del CHEK2:c.467dup CHEK2:c.596dup (p.Tyr199Ter) CHEK2:c.-311dup CHEK2:c.467dup (p.Tyr156Ter) CHEK2:c.444+141dup CHEK2:c.1419dup (p.Arg474Ter) CHEK2:c.627dup (p.Arg210Ter) CHEK2:c.1089dup (p.Arg364Ter) CHEK2:c.1290dup (p.Arg431Ter) CHEK2:c.1203dup (p.Arg402Ter) CHEK2:c.1290dup CHEK2:c.776del CHEK2:c.905del (p.Gly302fs) CHEK2:c.113del (p.Gly38fs) CHEK2:c.575del (p.Gly192fs) CHEK2:c.776del (p.Gly259fs) CHEK2:c.321_324del CHEK2:c.450_453del (p.Lys150_Cys151insTer) CHEK2:c.-457_-454del CHEK2:c.321_324del (p.Glu107_Cys108insTer) CHEK2:c.1485G>A CHEK2:c.1356G>A CHEK2:c.1485G>A (p.Trp495Ter) CHEK2:c.693G>A (p.Trp231Ter) CHEK2:c.1155G>A (p.Trp385Ter) CHEK2:c.1356G>A (p.Trp452Ter) CHEK2:c.1269G>A (p.Trp423Ter) CHEK2:c.1193del CHEK2:c.1322del (p.Ser441fs) CHEK2:c.530del (p.Ser177fs) CHEK2:c.992del (p.Ser331fs) CHEK2:c.1193del (p.Ser398fs) CHEK2:c.1106del (p.Ser369fs) CHEK2:c.1074del (p.Asn359fs) CHEK2:c.282del (p.Asn95fs) CHEK2:c.744del (p.Asn249fs) CHEK2:c.945del (p.Asn316fs) CHEK2:c.945del CHEK2:c.636T>G CHEK2:c.765T>G (p.Tyr255Ter) CHEK2:c.-28T>G CHEK2:c.636T>G (p.Tyr212Ter) CHEK2:c.482+5444T>G CHEK2:c.938del CHEK2:c.1067del (p.Val356fs) CHEK2:c.275del (p.Val92fs) CHEK2:c.737del (p.Val246fs) CHEK2:c.938del (p.Val313fs) CHEK2:c.684-2A>T CHEK2:c.483-2A>T CHEK2:c.21-2A>T CHEK2:c.813-2A>T CHEK2:c.1288+2T>C CHEK2:c.1174+2T>C CHEK2:c.1375+2T>C CHEK2:c.712+2T>C CHEK2:c.1504+2T>C CHEK2:c.847-12_847-2del CHEK2:c.646-12_646-2del CHEK2:c.184-12_184-2del CHEK2:c.976-12_976-2del CHEK2:c.593-2A>G CHEK2:c.482+5399A>G CHEK2:c.-71-2A>G CHEK2:c.722-2A>G CHEK2:c.1561G>T (p.Glu521Ter) CHEK2:c.769G>T (p.Glu257Ter) CHEK2:c.1231G>T (p.Glu411Ter) CHEK2:c.1432G>T (p.Glu478Ter) CHEK2:c.1345G>T (p.Glu449Ter) CHEK2:c.1549del (p.Arg517fs) CHEK2:c.757del (p.Arg253fs) CHEK2:c.1219del (p.Arg407fs) CHEK2:c.1420del (p.Arg474fs) CHEK2:c.1333del (p.Arg445fs) CHEK2:c.1461del (p.Lys487fs) CHEK2:c.669del (p.Lys223fs) CHEK2:c.1131del (p.Lys377fs) CHEK2:c.1332del (p.Lys444fs) CHEK2:c.1245del (p.Lys415fs) CHEK2:c.1375dup (p.Ile459fs) CHEK2:c.583dup (p.Ile195fs) CHEK2:c.1045dup (p.Ile349fs) CHEK2:c.1246dup (p.Ile416fs) CHEK2:c.1159dup (p.Ile387fs) CHEK2:c.1097_1098del (p.Thr366fs) CHEK2:c.305_306del (p.Thr102fs) CHEK2:c.767_768del (p.Thr256fs) CHEK2:c.968_969del (p.Thr323fs) CHEK2:c.959T>A (p.Leu320Ter) CHEK2:c.167T>A (p.Leu56Ter) CHEK2:c.629T>A (p.Leu210Ter) CHEK2:c.830T>A (p.Leu277Ter) CHEK2:c.916G>T (p.Glu306Ter) CHEK2:c.124G>T (p.Glu42Ter) CHEK2:c.586G>T (p.Glu196Ter) CHEK2:c.787G>T (p.Glu263Ter) CHEK2:c.879del (p.Ile294fs) CHEK2:c.87del (p.Ile30fs) CHEK2:c.549del (p.Ile184fs) CHEK2:c.750del (p.Ile251fs) CHEK2:c.847del (p.Arg283fs) CHEK2:c.55del (p.Arg19fs) CHEK2:c.517del (p.Arg173fs) CHEK2:c.718del (p.Arg240fs) CHEK2:c.793_805del (p.Met265fs) CHEK2:c.1_13del (p.Met1fs) CHEK2:c.664_676del (p.Met222fs) CHEK2:c.482+5472_482+5484del CHEK2:c.792_793insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met265fs) CHEK2:c.-1_1insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met1fs) CHEK2:c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) CHEK2:c.482+5471_482+5472insAAGAGATGAATACATCGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAA CHEK2:c.787dup (p.Tyr263fs) CHEK2:c.-6dup CHEK2:c.658dup (p.Tyr220fs) CHEK2:c.482+5466dup CHEK2:c.677del (p.Pro225_Leu226insTer) CHEK2:c.-230del CHEK2:c.548del (p.Pro182_Leu183insTer) CHEK2:c.445-98del CHEK2:c.674dup (p.Leu226fs) CHEK2:c.-233dup CHEK2:c.545dup (p.Leu183fs) CHEK2:c.445-102dup CHEK2:c.600del (p.Ile200fs) CHEK2:c.-307del CHEK2:c.471del (p.Ile157fs) CHEK2:c.444+145del CHEK2:c.478del (p.Arg160fs) CHEK2:c.-429del CHEK2:c.349del (p.Arg117fs) CHEK2:c.82del (p.Ser28fs) CHEK2:c.-696del CHEK2:c.55del (p.Ser19fs) CHEK2:c.-723del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.895-2A>G CHEK2:c.1096-2A>G CHEK2:c.433-2A>G CHEK2:c.1225-2A>G CHEK2:c.903_908+26del CHEK2:c.702_707+26del CHEK2:c.240_245+26del CHEK2:c.1032_1037+26del CHEK2:c.624_625insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn209fs) CHEK2:c.-298_-283AGA[2]TCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC[1] CHEK2:c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) CHEK2:c.445-151_445-150insAGAAGATCACAGTGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAA CHEK2:c.1252_1253del (p.Leu418fs) CHEK2:c.460_461del (p.Leu154fs) CHEK2:c.922_923del (p.Leu308fs) CHEK2:c.1123_1124del (p.Leu375fs) CHEK2:c.1036_1037del (p.Leu346fs) CHEK2:c.1143_1165dup (p.Arg389fs) CHEK2:c.351_373dup (p.Arg125fs) CHEK2:c.813_835dup (p.Arg279fs) CHEK2:c.1014_1036dup (p.Arg346fs) CHEK2:c.1009-1109_1009-1087dup CHEK2:c.633del (p.Phe212fs) CHEK2:c.-274del CHEK2:c.504del (p.Phe169fs) CHEK2:c.445-142del CHEK2:c.676_677del (p.Leu226fs) CHEK2:c.-231_-230del CHEK2:c.547_548del (p.Leu183fs) CHEK2:c.445-99_445-98del CHEK2:c.6_10delTCGGG CHEK2:c.6_10del (p.Arg3fs) CHEK2:c.-772_-768del CHEK2:c.445-8_446del CHEK2:c.444+111_444+120del CHEK2:c.-333-8_-332del CHEK2:c.574-8_575del CHEK2:c.1021del (p.Tyr341fs) CHEK2:c.229del (p.Tyr77fs) CHEK2:c.691del (p.Tyr231fs) CHEK2:c.892del (p.Tyr298fs) CHEK2:c.1338_1362dup (p.Ser455delinsValTer) CHEK2:c.546_570dup (p.Ser191delinsValTer) CHEK2:c.1008_1032dup (p.Ser345delinsValTer) CHEK2:c.1209_1233dup (p.Ser412delinsValTer) CHEK2:c.1122_1146dup (p.Ser383delinsValTer) CHEK2:c.320-2A>G CHEK2:c.-458-2A>G CHEK2:c.449-2A>G CHEK2:c.1159del (p.Ile387fs) CHEK2:c.367del (p.Ile123fs) CHEK2:c.829del (p.Ile277fs) CHEK2:c.1030del (p.Ile344fs) CHEK2:c.1009-1093del CHEK2:c.46_61del (p.Ser16fs) CHEK2:c.-732_-717del CHEK2:c.1443del (p.Gln482fs) CHEK2:c.651del (p.Gln218fs) CHEK2:c.1113del (p.Gln372fs) CHEK2:c.1314del (p.Gln439fs) CHEK2:c.1227del (p.Gln410fs) CHEK2:c.94del (p.Ser32fs) CHEK2:c.-684del CHEK2:c.408C>G CHEK2:c.537C>G (p.Tyr179Ter) CHEK2:c.-370C>G CHEK2:c.408C>G (p.Tyr136Ter) CHEK2:c.1464C>A (p.Tyr488Ter) CHEK2:c.672C>A (p.Tyr224Ter) CHEK2:c.1134C>A (p.Tyr378Ter) CHEK2:c.1335C>A (p.Tyr445Ter) CHEK2:c.1248C>A (p.Tyr416Ter) CHEK2:c.16delG CHEK2:c.16del (p.Asp6fs) CHEK2:c.-762del CHEK2:c.1190T>A (p.Leu397Ter) CHEK2:c.398T>A (p.Leu133Ter) CHEK2:c.860T>A (p.Leu287Ter) CHEK2:c.1061T>A (p.Leu354Ter) CHEK2:c.1009-1062T>A CHEK2:c.492T>A (p.Cys164Ter) CHEK2:c.-415T>A CHEK2:c.363T>A (p.Cys121Ter) CHEK2:c.1009-1026T>C CHEK2:c.894+2T>C CHEK2:c.1095+2T>C CHEK2:c.432+2T>C CHEK2:c.1224+2T>C CHEK2:c.205C>T CHEK2:c.205C>T (p.Gln69Ter) CHEK2:c.-573C>T CHEK2:c.1337delA CHEK2:c.1466del (p.Asn489fs) CHEK2:c.674del (p.Asn225fs) CHEK2:c.1136del (p.Asn379fs) CHEK2:c.1337del (p.Asn446fs) CHEK2:c.1250del (p.Asn417fs) CHEK2:c.894T>G CHEK2:c.1023T>G (p.Tyr341Ter) CHEK2:c.231T>G (p.Tyr77Ter) CHEK2:c.693T>G (p.Tyr231Ter) CHEK2:c.894T>G (p.Tyr298Ter) CHEK2:c.876delT CHEK2:c.1005del (p.Phe335fs) CHEK2:c.213del (p.Phe71fs) CHEK2:c.675del (p.Phe225fs) CHEK2:c.876del (p.Phe292fs) CHEK2:c.1459C>T CHEK2:c.1588C>T (p.Gln530Ter) CHEK2:c.796C>T (p.Gln266Ter) CHEK2:c.1258C>T (p.Gln420Ter) CHEK2:c.1459C>T (p.Gln487Ter) CHEK2:c.1372C>T (p.Gln458Ter) CHEK2:c.1188delT CHEK2:c.1317del (p.Val440fs) CHEK2:c.525del (p.Val176fs) CHEK2:c.987del (p.Val330fs) CHEK2:c.1188del (p.Val397fs) CHEK2:c.1101del (p.Val368fs) CHEK2:c.847-1G>A CHEK2:c.646-1G>A CHEK2:c.184-1G>A CHEK2:c.976-1G>A CHEK2:c.683+1G>A CHEK2:c.482+5492G>A CHEK2:c.20+1G>A CHEK2:c.812+1G>A CHEK2:c.902T>A CHEK2:c.1031T>A (p.Leu344Ter) CHEK2:c.239T>A (p.Leu80Ter) CHEK2:c.701T>A (p.Leu234Ter) CHEK2:c.902T>A (p.Leu301Ter) CHEK2:c.860delA CHEK2:c.989del (p.Lys330fs) CHEK2:c.197del (p.Lys66fs) CHEK2:c.659del (p.Lys220fs) CHEK2:c.860del (p.Lys287fs) CHEK2:c.823delG CHEK2:c.952del (p.Glu318fs) CHEK2:c.160del (p.Glu54fs) CHEK2:c.622del (p.Glu208fs) CHEK2:c.823del (p.Glu275fs) CHEK2:c.28C>T CHEK2:c.28C>T (p.Gln10Ter) CHEK2:c.-750C>T CHEK2:c.1164dupC CHEK2:c.1293dup (p.Thr432fs) CHEK2:c.501dup (p.Thr168fs) CHEK2:c.963dup (p.Thr322fs) CHEK2:c.1164dup (p.Thr389fs) CHEK2:c.1077dup (p.Thr360fs) CHEK2:c.1259+1G>T CHEK2:c.1172+1G>T CHEK2:c.1058+1G>T CHEK2:c.596+1G>T CHEK2:c.1388+1G>T CHEK2:c.846+1G>A CHEK2:c.645+1G>A CHEK2:c.183+1G>A CHEK2:c.975+1G>A CHEK2:c.232C>T CHEK2:c.232C>T (p.Gln78Ter) CHEK2:c.-546C>T CHEK2:c.1240G>T CHEK2:c.1369G>T (p.Gly457Ter) CHEK2:c.577G>T (p.Gly193Ter) CHEK2:c.1039G>T (p.Gly347Ter) CHEK2:c.1240G>T (p.Gly414Ter) CHEK2:c.1153G>T (p.Gly385Ter) CHEK2:c.152_155dup CHEK2:c.152_155dup (p.Ser53fs) CHEK2:c.-626_-623dup CHEK2:c.577_578delCT CHEK2:c.706_707del (p.Leu236fs) CHEK2:c.-201_-200del CHEK2:c.577_578del (p.Leu193fs) CHEK2:c.445-69_445-68del CHEK2:c.1451delC CHEK2:c.1580del (p.Pro527fs) CHEK2:c.788del (p.Pro263fs) CHEK2:c.1250del (p.Pro417fs) CHEK2:c.1451del (p.Pro484fs) CHEK2:c.1364del (p.Pro455fs) CHEK2:c.1008+2T>G CHEK2:c.807+2T>G CHEK2:c.345+2T>G CHEK2:c.1137+2T>G CHEK2:c.133delA CHEK2:c.133del (p.Thr45fs) CHEK2:c.-645del CHEK2:c.319+1G>A CHEK2:c.-459+1G>A CHEK2:c.433delC CHEK2:c.562del (p.Arg188fs) CHEK2:c.-345del CHEK2:c.433del (p.Arg145fs) CHEK2:c.893_897delATATT CHEK2:c.1022_1026del (p.Tyr341fs) CHEK2:c.230_234del (p.Tyr77fs) CHEK2:c.692_696del (p.Tyr231fs) CHEK2:c.893_897del (p.Tyr298fs) CHEK2:c.1564G>T (p.Glu522Ter) CHEK2:c.772G>T (p.Glu258Ter) CHEK2:c.1234G>T (p.Glu412Ter) CHEK2:c.1435G>T (p.Glu479Ter) CHEK2:c.1348G>T (p.Glu450Ter) CHEK2:c.1435G>T CHEK2:c.909-1G>A CHEK2:c.708-1G>A CHEK2:c.246-1G>A CHEK2:c.1038-1G>A CHEK2:c.1209_1233del CHEK2:c.1338_1362del (p.Tyr447fs) CHEK2:c.546_570del (p.Tyr183fs) CHEK2:c.1008_1032del (p.Tyr337fs) CHEK2:c.1209_1233del (p.Tyr404fs) CHEK2:c.1122_1146del (p.Tyr375fs) CHEK2:c.606dup CHEK2:c.735dup (p.Asp246Ter) CHEK2:c.-58dup CHEK2:c.606dup (p.Asp203Ter) CHEK2:c.482+5409dup CHEK2:c.735dupT CHEK2:c.100C>T CHEK2:c.100C>T (p.Gln34Ter) CHEK2:c.-678C>T CHEK2:c.1461+1G>T CHEK2:c.1374+1G>T CHEK2:c.1260+1G>T CHEK2:c.798+1G>T CHEK2:c.1590+1G>T CHEK2:c.706delC CHEK2:c.835del (p.Leu279fs) CHEK2:c.43del (p.Leu15fs) CHEK2:c.505del (p.Leu169fs) CHEK2:c.706del (p.Leu236fs) CHEK2:c.1009-1G>A CHEK2:c.1009-1115G>A CHEK2:c.808-1G>A CHEK2:c.346-1G>A CHEK2:c.1138-1G>A CHEK2:c.1108dup (p.Tyr370fs) CHEK2:c.316dup (p.Tyr106fs) CHEK2:c.778dup (p.Tyr260fs) CHEK2:c.979dup (p.Tyr327fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) CHEK2:c.79C>T CHEK2:c.79C>T (p.Gln27Ter) CHEK2:c.-699C>T CHEK2:c.118_133delAGCTCCTCTACCAGCA CHEK2:c.118_133del (p.Ser40fs) CHEK2:c.-660_-645del CHEK2:c.1465G>T CHEK2:c.1594G>T (p.Glu532Ter) CHEK2:c.802G>T (p.Glu268Ter) CHEK2:c.1264G>T (p.Glu422Ter) CHEK2:c.1465G>T (p.Glu489Ter) CHEK2:c.1378G>T (p.Glu460Ter) CHEK2:c.400_401del CHEK2:c.529_530del (p.Thr176_Asp177insTer) CHEK2:c.-378_-377del CHEK2:c.400_401del (p.Thr133_Asp134insTer) CHEK2:c.621delT CHEK2:c.750del (p.Asp250fs) CHEK2:c.-43del CHEK2:c.621del (p.Asp207fs) CHEK2:c.482+5429del CHEK2:c.792_792+1delAG CHEK2:c.792_792+1del CHEK2:c.591_591+1del CHEK2:c.129_129+1del CHEK2:c.921_921+1del CHEK2:c.1095+2T>G CHEK2:c.1009-1026T>G CHEK2:c.894+2T>G CHEK2:c.432+2T>G CHEK2:c.1224+2T>G CHEK2:c.988C>T CHEK2:c.1117C>T (p.Gln373Ter) CHEK2:c.325C>T (p.Gln109Ter) CHEK2:c.787C>T (p.Gln263Ter) CHEK2:c.988C>T (p.Gln330Ter) CHEK2:c.445-2A>G CHEK2:c.444+117A>G CHEK2:c.-333-2A>G CHEK2:c.574-2A>G CHEK2:c.575C>A CHEK2:c.704C>A (p.Ser235Ter) CHEK2:c.-203C>A CHEK2:c.575C>A (p.Ser192Ter) CHEK2:c.445-71C>A CHEK2:c.252del (p.Glu84fs) CHEK2:c.-526del CHEK2:c.252del CHEK2:c.605_606delTT CHEK2:c.734_735del (p.Phe244_Phe245insTer) CHEK2:c.-59_-58del CHEK2:c.605_606del (p.Phe201_Phe202insTer) CHEK2:c.482+5413_482+5414del CHEK2:c.578del (p.Val193fs) CHEK2:c.-329del CHEK2:c.449del (p.Val150fs) CHEK2:c.444+123del CHEK2:c.449del CHEK2:c.1375+1G>A CHEK2:c.1288+1G>A CHEK2:c.1174+1G>A CHEK2:c.712+1G>A CHEK2:c.1504+1G>A CHEK2:c.1230C>A CHEK2:c.1359C>A (p.Cys453Ter) CHEK2:c.567C>A (p.Cys189Ter) CHEK2:c.1029C>A (p.Cys343Ter) CHEK2:c.1230C>A (p.Cys410Ter) CHEK2:c.1143C>A (p.Cys381Ter) CHEK2:c.995del CHEK2:c.1124del (p.Leu375fs) CHEK2:c.332del (p.Leu111fs) CHEK2:c.794del (p.Leu265fs) CHEK2:c.995del (p.Leu332fs) CHEK2:c.989del CHEK2:c.1118del (p.Gln373fs) CHEK2:c.326del (p.Gln109fs) CHEK2:c.788del (p.Gln263fs) CHEK2:c.989del (p.Gln330fs) CHEK2:c.763A>T CHEK2:c.892A>T (p.Lys298Ter) CHEK2:c.100A>T (p.Lys34Ter) CHEK2:c.562A>T (p.Lys188Ter) CHEK2:c.763A>T (p.Lys255Ter) CHEK2:c.788_791del (p.Tyr263fs) CHEK2:c.-5_-2del CHEK2:c.659_662del (p.Tyr220fs) CHEK2:c.482+5467_482+5470del CHEK2:c.659_662del CHEK2:c.194_195del CHEK2:c.194_195del (p.Thr65fs) CHEK2:c.-584_-583del CHEK2:c.159_160del CHEK2:c.159_160del (p.His54fs) CHEK2:c.-621TC[1] CHEK2:c.1400del CHEK2:c.1529del (p.Leu510fs) CHEK2:c.737del (p.Leu246fs) CHEK2:c.1199del (p.Leu400fs) CHEK2:c.1400del (p.Leu467fs) CHEK2:c.1313del (p.Leu438fs) CHEK2:c.1489_1490del (p.Glu497fs) CHEK2:c.697_698del (p.Glu233fs) CHEK2:c.1159_1160del (p.Glu387fs) CHEK2:c.1360_1361del (p.Glu454fs) CHEK2:c.1273_1274del (p.Glu425fs) CHEK2:c.1360_1361del CHEK2:c.1067C>G CHEK2:c.1196C>G (p.Ser399Ter) CHEK2:c.404C>G (p.Ser135Ter) CHEK2:c.866C>G (p.Ser289Ter) CHEK2:c.1067C>G (p.Ser356Ter) CHEK2:c.1009-1056C>G CHEK2:c.186del CHEK2:c.186del (p.Ser62_Leu63insTer) CHEK2:c.-592del CHEK2:c.444_444+1del CHEK2:c.-334_-334+1del CHEK2:c.573_573+1del CHEK2:c.792+2T>G CHEK2:c.591+2T>G CHEK2:c.129+2T>G CHEK2:c.921+2T>G CHEK2:c.1348G>T CHEK2:c.1477G>T (p.Glu493Ter) CHEK2:c.685G>T (p.Glu229Ter) CHEK2:c.1147G>T (p.Glu383Ter) CHEK2:c.1261G>T (p.Glu421Ter) CHEK2:c.1210_1219del CHEK2:c.1339_1348del (p.Tyr447fs) CHEK2:c.547_556del (p.Tyr183fs) CHEK2:c.1009_1018del (p.Tyr337fs) CHEK2:c.1210_1219del (p.Tyr404fs) CHEK2:c.1123_1132del (p.Tyr375fs) CHEK2:c.870_871insCTAC CHEK2:c.999_1000insCTAC (p.Phe334fs) CHEK2:c.207_208insCTAC (p.Phe70fs) CHEK2:c.669_670insCTAC (p.Phe224fs) CHEK2:c.870_871insCTAC (p.Phe291fs) CHEK2:c.862_865del (p.Lys287_Lys288insTer) CHEK2:c.70_73del (p.Lys23_Lys24insTer) CHEK2:c.532_535del (p.Lys177_Lys178insTer) CHEK2:c.733_736del (p.Lys244_Lys245insTer) CHEK2:c.733_736del CHEK2:c.267_268insT CHEK2:c.267_268insT (p.Pro90fs) CHEK2:c.-511_-510insT CHEK2:c.98C>A CHEK2:c.98C>A (p.Ser33Ter) CHEK2:c.-680C>A CHEK2:c.733A>T CHEK2:c.862A>T (p.Lys288Ter) CHEK2:c.70A>T (p.Lys24Ter) CHEK2:c.532A>T (p.Lys178Ter) CHEK2:c.733A>T (p.Lys245Ter) CHEK2:c.209_216del (p.Glu70fs) CHEK2:c.-569_-562del CHEK2:c.209_216del CHEK2:c.684-5_684-2delinsC CHEK2:c.483-5_483-2delinsC CHEK2:c.21-5_21-2delinsC CHEK2:c.813-5_813-2delinsC CHEK2:c.1210_1211insTT CHEK2:c.1339_1340insTT (p.Tyr447fs) CHEK2:c.547_548insTT (p.Tyr183fs) CHEK2:c.1009_1010insTT (p.Tyr337fs) CHEK2:c.1210_1211insTT (p.Tyr404fs) CHEK2:c.1123_1124insTT (p.Tyr375fs) CHEK2:c.726_727del CHEK2:c.855_856del (p.Thr285_Cys286insTer) CHEK2:c.63_64del (p.Thr21_Cys22insTer) CHEK2:c.525_526del (p.Thr175_Cys176insTer) CHEK2:c.726_727del (p.Thr242_Cys243insTer) CHEK2:c.666del (p.Lys222fs) CHEK2:c.-241del CHEK2:c.537del (p.Lys179fs) CHEK2:c.445-109del CHEK2:c.537del CHEK2:c.597C>G CHEK2:c.468C>G CHEK2:c.597C>G (p.Tyr199Ter) CHEK2:c.-310C>G CHEK2:c.444+142C>G CHEK2:c.803_804del CHEK2:c.932_933del (p.Leu311fs) CHEK2:c.140_141del (p.Leu47fs) CHEK2:c.602_603del (p.Leu201fs) CHEK2:c.803_804del (p.Leu268fs) CHEK2:c.792+2T>A CHEK2:c.591+2T>A CHEK2:c.129+2T>A CHEK2:c.921+2T>A CHEK2:c.1050del CHEK2:c.1179del (p.Glu394fs) CHEK2:c.387del (p.Glu130fs) CHEK2:c.849del (p.Glu284fs) CHEK2:c.1050del (p.Glu351fs) CHEK2:c.1009-1073del CHEK2:c.1092del (p.Ala365fs) CHEK2:c.300del (p.Ala101fs) CHEK2:c.762del (p.Ala255fs) CHEK2:c.963del (p.Ala322fs) CHEK2:c.963del CHEK2:c.391A>T CHEK2:c.520A>T (p.Lys174Ter) CHEK2:c.-387A>T CHEK2:c.391A>T (p.Lys131Ter) CHEK2:c.64del CHEK2:c.64del (p.His22fs) CHEK2:c.-714del CHEK2:c.684-1del CHEK2:c.483-1del CHEK2:c.21-1del CHEK2:c.813-1del CHEK2:c.1584G>A (p.Trp528Ter) CHEK2:c.792G>A (p.Trp264Ter) CHEK2:c.1254G>A (p.Trp418Ter) CHEK2:c.1455G>A (p.Trp485Ter) CHEK2:c.1368G>A (p.Trp456Ter) CHEK2:c.1400T>A CHEK2:c.1529T>A (p.Leu510Ter) CHEK2:c.737T>A (p.Leu246Ter) CHEK2:c.1199T>A (p.Leu400Ter) CHEK2:c.1400T>A (p.Leu467Ter) CHEK2:c.1313T>A (p.Leu438Ter) CHEK2:c.1496C>G (p.Ser499Ter) CHEK2:c.704C>G (p.Ser235Ter) CHEK2:c.1166C>G (p.Ser389Ter) CHEK2:c.1367C>G (p.Ser456Ter) CHEK2:c.1280C>G (p.Ser427Ter) CHEK2:c.1491del (p.Val498fs) CHEK2:c.699del (p.Val234fs) CHEK2:c.1161del (p.Val388fs) CHEK2:c.1362del (p.Val455fs) CHEK2:c.1275del (p.Val426fs) CHEK2:c.1393dup (p.Ser465fs) CHEK2:c.601dup (p.Ser201fs) CHEK2:c.1063dup (p.Ser355fs) CHEK2:c.1264dup (p.Ser422fs) CHEK2:c.1177dup (p.Ser393fs) CHEK2:c.1377del (p.Leu460fs) CHEK2:c.585del (p.Leu196fs) CHEK2:c.1047del (p.Leu350fs) CHEK2:c.1248del (p.Leu417fs) CHEK2:c.1161del (p.Leu388fs) CHEK2:c.1196_1206del (p.Leu398_Ser399insTer) CHEK2:c.404_414del (p.Leu134_Ser135insTer) CHEK2:c.866_876del (p.Leu288_Ser289insTer) CHEK2:c.1067_1077del (p.Leu355_Ser356insTer) CHEK2:c.1009-1056_1009-1046del CHEK2:c.1048G>T (p.Gly350Ter) CHEK2:c.256G>T (p.Gly86Ter) CHEK2:c.718G>T (p.Gly240Ter) CHEK2:c.919G>T (p.Gly307Ter) CHEK2:c.897dup (p.Ala300fs) CHEK2:c.105dup (p.Ala36fs) CHEK2:c.567dup (p.Ala190fs) CHEK2:c.768dup (p.Ala257fs) CHEK2:c.853del (p.Thr285fs) CHEK2:c.61del (p.Thr21fs) CHEK2:c.523del (p.Thr175fs) CHEK2:c.724del (p.Thr242fs) CHEK2:c.797_798insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser266_Lys267insTer) CHEK2:c.5_6insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser2_Lys3insTer) CHEK2:c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) CHEK2:c.482+5476_482+5477insTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTCT CHEK2:c.793del (p.Met265fs) CHEK2:c.1del (p.Met1fs) CHEK2:c.664del (p.Met222fs) CHEK2:c.482+5472del CHEK2:c.631del (p.Thr211fs) CHEK2:c.-276del CHEK2:c.502del (p.Thr168fs) CHEK2:c.445-144del CHEK2:c.598del (p.Ile200fs) CHEK2:c.-309del CHEK2:c.469del (p.Ile157fs) CHEK2:c.444+143del CHEK2:c.529_532del (p.Asp177fs) CHEK2:c.-378_-375del CHEK2:c.400_403del (p.Asp134fs) CHEK2:c.488del (p.Ser163fs) CHEK2:c.-419del CHEK2:c.359del (p.Ser120fs) CHEK2:c.33del (p.Gln11fs) CHEK2:c.-745del CHEK2:c.684-2A>G CHEK2:c.483-2A>G CHEK2:c.21-2A>G CHEK2:c.813-2A>G CHEK2:c.1284T>A (p.Cys428Ter) CHEK2:c.954T>A (p.Cys318Ter) CHEK2:c.1155T>A (p.Cys385Ter) CHEK2:c.1068T>A (p.Cys356Ter) CHEK2:c.1048_1049del (p.Gly350fs) CHEK2:c.256_257del (p.Gly86fs) CHEK2:c.718_719del (p.Gly240fs) CHEK2:c.919_920del (p.Gly307fs) CHEK2:c.788_789delAG CHEK2:c.917_918del (p.Glu306fs) CHEK2:c.125_126del (p.Glu42fs) CHEK2:c.587_588del (p.Glu196fs) CHEK2:c.788_789del (p.Glu263fs) CHEK2:c.233_234del (p.Gln78fs) CHEK2:c.-545_-544del CHEK2:c.222del (p.Pro75fs) CHEK2:c.-556del CHEK2:c.106C>T CHEK2:c.106C>T (p.Gln36Ter) CHEK2:c.-672C>T CHEK2:c.41del (p.Gly14fs) CHEK2:c.-737del CHEK2:c.1330_1334del (p.Thr444fs) CHEK2:c.538_542del (p.Thr180fs) CHEK2:c.1000_1004del (p.Thr334fs) CHEK2:c.1201_1205del (p.Thr401fs) CHEK2:c.1114_1118del (p.Thr372fs) CHEK2:c.1470del (p.Phe490fs) CHEK2:c.678del (p.Phe226fs) CHEK2:c.1140del (p.Phe380fs) CHEK2:c.1341del (p.Phe447fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1306delC CHEK2:c.1435del (p.Ser478_Leu479insTer) CHEK2:c.643del (p.Ser214_Leu215insTer) CHEK2:c.1105del (p.Ser368_Leu369insTer) CHEK2:c.1306del (p.Ser435_Leu436insTer) CHEK2:c.1219del (p.Ser406_Leu407insTer) CHEK2:c.1375del (p.Ile459fs) CHEK2:c.583del (p.Ile195fs) CHEK2:c.1045del (p.Ile349fs) CHEK2:c.1246del (p.Ile416fs) CHEK2:c.1227_1237dup (p.Gly413fs) CHEK2:c.435_445dup (p.Gly149fs) CHEK2:c.897_907dup (p.Gly303fs) CHEK2:c.1098_1108dup (p.Gly370fs) CHEK2:c.1011_1021dup (p.Gly341fs) CHEK2:c.891_908+3del CHEK2:c.690_707+3del CHEK2:c.228_245+3del CHEK2:c.1020_1037+3del CHEK2:c.188del (p.Ser62_Leu63insTer) CHEK2:c.-590del CHEK2:c.903_904del (p.Ile301fs) CHEK2:c.111_112del (p.Ile37fs) CHEK2:c.573_574del (p.Ile191fs) CHEK2:c.774_775del (p.Ile258fs) CHEK2:c.1127T>A (p.Leu376Ter) CHEK2:c.335T>A (p.Leu112Ter) CHEK2:c.797T>A (p.Leu266Ter) CHEK2:c.998T>A (p.Leu333Ter) CHEK2:c.32_35del (p.Gln11fs) CHEK2:c.-746_-743del CHEK2:c.1048_1069del (p.Gly350fs) CHEK2:c.256_277del (p.Gly86fs) CHEK2:c.718_739del (p.Gly240fs) CHEK2:c.919_940del (p.Gly307fs) CHEK2:c.1175dup (p.Pro393fs) CHEK2:c.383dup (p.Pro129fs) CHEK2:c.845dup (p.Pro283fs) CHEK2:c.1046dup (p.Pro350fs) CHEK2:c.1009-1077dup CHEK2:c.1299del (p.Leu434fs) CHEK2:c.507del (p.Leu170fs) CHEK2:c.969del (p.Leu324fs) CHEK2:c.1170del (p.Leu391fs) CHEK2:c.1083del (p.Leu362fs) CHEK2:c.490del (p.Cys164fs) CHEK2:c.-417del CHEK2:c.361del (p.Cys121fs) CHEK2:c.872dup (p.Ile293fs) CHEK2:c.80dup (p.Ile29fs) CHEK2:c.542dup (p.Ile183fs) CHEK2:c.743dup (p.Ile250fs) CHEK2:c.889del (p.Arg297fs) CHEK2:c.97del (p.Arg33fs) CHEK2:c.559del (p.Arg187fs) CHEK2:c.760del (p.Arg254fs) CHEK2:c.866_911dup (p.Arg305fs) CHEK2:c.74_119dup (p.Arg41fs) CHEK2:c.536_581dup (p.Arg195fs) CHEK2:c.737_782dup (p.Arg262fs) CHEK2:c.1125_1135del (p.Leu376fs) CHEK2:c.333_343del (p.Leu112fs) CHEK2:c.795_805del (p.Leu266fs) CHEK2:c.996_1006del (p.Leu333fs) CHEK2:c.1493dup (p.Ser499fs) CHEK2:c.701dup (p.Ser235fs) CHEK2:c.1163dup (p.Ser389fs) CHEK2:c.1364dup (p.Ser456fs) CHEK2:c.1277dup (p.Ser427fs) CHEK2:c.557delA CHEK2:c.686del (p.Asn229fs) CHEK2:c.-221del CHEK2:c.557del (p.Asn186fs) CHEK2:c.445-89del CHEK2:c.1508del (p.Leu503fs) CHEK2:c.716del (p.Leu239fs) CHEK2:c.1178del (p.Leu393fs) CHEK2:c.1379del (p.Leu460fs) CHEK2:c.1292del (p.Leu431fs) CHEK2:c.1472_1473del (p.Ile491fs) CHEK2:c.680_681del (p.Ile227fs) CHEK2:c.1142_1143del (p.Ile381fs) CHEK2:c.1343_1344del (p.Ile448fs) CHEK2:c.1256_1257del (p.Ile419fs) CHEK2:c.589_617dup (p.His206delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.-318_-290dup CHEK2:c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) CHEK2:c.444+134_445-158dup CHEK2:c.577_590del (p.Val193fs) CHEK2:c.-330_-317del CHEK2:c.448_461del (p.Val150fs) CHEK2:c.444+122_444+135del CHEK2:c.471G>A (p.Trp157Ter) CHEK2:c.-436G>A CHEK2:c.342G>A (p.Trp114Ter) CHEK2:c.776dupG CHEK2:c.905dup (p.Ser303fs) CHEK2:c.113dup (p.Ser39fs) CHEK2:c.575dup (p.Ser193fs) CHEK2:c.776dup (p.Ser260fs) CHEK2:c.773del (p.Ala258fs) CHEK2:c.-20del CHEK2:c.644del (p.Ala215fs) CHEK2:c.482+5452del CHEK2:c.1009-1026T>A CHEK2:c.894+2T>A CHEK2:c.1095+2T>A CHEK2:c.432+2T>A CHEK2:c.1224+2T>A CHEK2:c.1222_1223dup (p.Ile409fs) CHEK2:c.430_431dup (p.Ile145fs) CHEK2:c.892_893dup (p.Ile299fs) CHEK2:c.1093_1094dup (p.Ile366fs) CHEK2:c.1009-1030_1009-1029dup CHEK2:c.908del (p.Gly302_Ser303insTer) CHEK2:c.116del (p.Gly38_Ser39insTer) CHEK2:c.578del (p.Gly192_Ser193insTer) CHEK2:c.779del (p.Gly259_Ser260insTer) CHEK2:c.1245del (p.Lys416fs) CHEK2:c.453del (p.Lys152fs) CHEK2:c.915del (p.Lys306fs) CHEK2:c.1116del (p.Lys373fs) CHEK2:c.1029del (p.Lys344fs) CHEK2:c.1581del (p.Trp528fs) CHEK2:c.789del (p.Trp264fs) CHEK2:c.1251del (p.Trp418fs) CHEK2:c.1452del (p.Trp485fs) CHEK2:c.1365del (p.Trp456fs) CHEK2:c.683+2T>A CHEK2:c.482+5493T>A CHEK2:c.20+2T>A CHEK2:c.812+2T>A CHEK2:c.79del (p.Gln27fs) CHEK2:c.-699del CHEK2:c.1531delG CHEK2:c.1660del (p.Val554fs) CHEK2:c.868del (p.Val290fs) CHEK2:c.1330del (p.Val444fs) CHEK2:c.1531del (p.Val511fs) CHEK2:c.1444del (p.Val482fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.607del (p.Tyr202_Ile203insTer) CHEK2:c.-300del CHEK2:c.478del (p.Tyr159_Ile160insTer) CHEK2:c.444+152del CHEK2:c.478delA CHEK2:c.56C>G (p.Ser19Ter) CHEK2:c.-722C>G CHEK2:c.56C>G CHEK2:c.269dup CHEK2:c.269dup (p.Ala91fs) CHEK2:c.-509dup CHEK2:c.597delT CHEK2:c.726del (p.Phe242fs) CHEK2:c.-67del CHEK2:c.597del (p.Phe199fs) CHEK2:c.482+5405del | premature stop missense mutation | A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. Hereditary cancer in clinical practice:2014 |
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |
CDK4 gene RAD51D gene RAD51C gene RAD50 gene NBN gene MRE11 gene BRIP1 gene BARD1 gene STK11 gene PTEN gene CDH1 gene CHEK2 gene ATM gene PALB2 gene TP53 gene | Breast Carcinoma cancer | 660 | BRCA2:c.51_52del (p.Arg18fs) BRCA2:c.51_52delAC BRCA1:c.547+1G>T BRCA1:c.406+1G>T PALB2:c.196C>T (p.Gln66Ter) PALB2:c.2674G>A (p.Glu892Lys) PALB2:c.2816T>G (p.Leu939Trp) PALB2:c.3113G>A (p.Trp1038Ter) NBN:c.452_455del (p.Lys151fs) NBN:c.698_701del (p.Lys233fs) CDH1:c.2329G>A CDH1:c.2146G>A (p.Asp716Asn) CDH1:c.781G>A (p.Asp261Asn) CDH1:c.364G>A (p.Asp122Asn) CDH1:c.2329G>A (p.Asp777Asn) MRE11:c.529G>A (p.Ala177Thr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) BRIP1:c.415T>G (p.Ser139Ala) BRIP1:c.2220G>T (p.Gln740His) ATM:c.6820G>A (p.Ala2274Thr) ATM:c.641-16999C>T ATM:c.*38+9150C>T CDK4:c.625C>T CDK4:c.625C>T (p.Arg209Cys) TP53:c.388G>A (p.Gly130Ser) TP53:c.667G>A (p.Gly223Ser) TP53:c.307G>A (p.Gly103Ser) TP53:c.784G>A MRE11:c.1139G>A (p.Arg380His) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G TP53:c.767A>C (p.Glu256Ala) TP53:c.*270A>C TP53:c.*182A>C TP53:c.1046A>C (p.Glu349Ala) TP53:c.686A>C (p.Glu229Ala) BARD1:c.627_628delAA BARD1:c.627_628del (p.Lys209fs) BARD1:c.570_571del (p.Lys190fs) BARD1:c.158+28165_158+28166del BARD1:c.215+15814_215+15815del BARD1:c.364+11050_364+11051del MRE11:c.1496A>G (p.Glu499Gly) BRIP1:c.1660C>G (p.Gln554Glu) CHEK2:c.629_632delCAGT CHEK2:c.758_761del (p.Ser253fs) CHEK2:c.-39CAGT[1] CHEK2:c.629_632del (p.Ser210fs) CHEK2:c.482+5437_482+5440del PALB2:c.1947dup (p.Glu650fs) TP53:c.341T>C (p.Met114Thr) TP53:c.620T>C (p.Met207Thr) TP53:c.260T>C (p.Met87Thr) TP53:c.737T>C (p.Met246Thr) TP53:c.737T>C PALB2:c.1685-2A>G BARD1:c.1915T>C BARD1:c.1915T>C (p.Cys639Arg) BARD1:c.1858T>C (p.Cys620Arg) BARD1:c.562T>C (p.Cys188Arg) BARD1:c.505T>C (p.Cys169Arg) BARD1:c.376T>C (p.Cys126Arg) MRE11:c.391G>A (p.Asp131Asn) RAD51D:c.812del (p.Ile271fs) RAD51D:c.752del (p.Ile251fs) RAD51D:c.416del (p.Ile139fs) BRIP1:c.1981T>C (p.Cys661Arg) PTEN:c.424C>T PTEN:c.424C>T (p.Arg142Trp) PTEN:c.943C>T (p.Arg315Trp) PTEN:c.-327C>T BRIP1:c.2563C>T (p.Arg855Cys) RAD51D:c.286G>T (p.Gly96Cys) RAD51D:c.346G>T (p.Gly116Cys) RAD51D:c.145-944G>T RAD51C:c.851_854delATCA RAD51C:c.851_854del (p.Asn284fs) RAD51D:c.739G>C (p.Val247Leu) RAD51D:c.799G>C (p.Val267Leu) RAD51D:c.403G>C (p.Val135Leu) BARD1:c.2317C>T BARD1:c.2317C>T (p.Leu773Phe) BARD1:c.2260C>T (p.Leu754Phe) BARD1:c.964C>T (p.Leu322Phe) BARD1:c.907C>T (p.Leu303Phe) BARD1:c.778C>T (p.Leu260Phe) RAD51D:c.739G>T (p.Val247Leu) RAD51D:c.799G>T (p.Val267Leu) RAD51D:c.403G>T (p.Val135Leu) RAD50:c.1017dupC RAD50:c.1017dup (p.Asn340fs) CHEK2:c.684-2A>G CHEK2:c.483-2A>G CHEK2:c.21-2A>G CHEK2:c.813-2A>G TP53:c.340A>G (p.Met114Val) TP53:c.619A>G (p.Met207Val) TP53:c.259A>G (p.Met87Val) TP53:c.736A>G (p.Met246Val) | Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. Journal of medical genetics:2016 | ||
CHEK2 gene | mendelian cancer testicular germ cell tumors | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) FANCC:c.166-4_166-1dupACAG FANCC:c.166-4_166-1dup BARD1:c.1620delA BARD1:c.1620del BARD1:c.1620del (p.Lys540fs) BARD1:c.1563del (p.Lys521fs) BARD1:c.267del (p.Lys89fs) BARD1:c.210del (p.Lys70fs) BARD1:c.365-21996del BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. JAMA oncology:2019 |
Gene | Symptoms or Disease | Total Cases | Number of families | Zygosity | Variations from text | Variations from curated data | Tech | Molecular Consequences | MOD | Citation |
---|---|---|---|---|---|---|---|---|---|---|
CHEK2 gene | Breast Carcinoma | 3228 | p.Ile157Thr c.IVS2+1G>A c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | polymerase chain reaction | premature stop missense mutation | CHEK2-positive breast cancers in young Polish women. Clinical cancer research : an official journal of the American Association for Cancer Research:2006 | |||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | p.Tyr424His p.Glu84Glu p.Ser428Phe p.Arg180Cys p.Arg3Trp c.*1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.-771C>T (n.-771C>T) BRCA1:c.4438T>C (p.Tyr1480His) BRCA1:c.4531T>C (p.Tyr1511His) BRCA1:c.4390T>C (p.Tyr1464His) BRCA1:c.4387T>C (p.Tyr1463His) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction Electrophoresis nucleaotide-sequencing | premature stop missense mutation | Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. The Israel Medical Association journal : IMAJ:2007 | ||||
CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma cancer | p.Arg406His c.1217G>A p.Glu84Glu c.252A>G c.IVS2+1G>A p.Ser428Phe p.Ile157Thr c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1346G>A (p.Arg449His) CHEK2:c.554G>A (p.Arg185His) CHEK2:c.1016G>A (p.Arg339His) CHEK2:c.1217G>A (p.Arg406His) CHEK2:c.1130G>A (p.Arg377His) CHEK2:c.1217G>A CHEK2:c.252A>G (p.Glu84=) CHEK2:c.-526A>G (n.-526A>G) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.1073G>A (p.Arg358His) BRCA1:c.953G>A (p.Arg318His) BRCA1:c.926G>A (p.Arg309His) BRCA1:c.4766G>A (p.Arg1589His) BRCA1:c.4625G>A (p.Arg1542His) BRCA1:c.1454G>A (p.Arg485His) BRCA1:c.4829G>A (p.Arg1610His) BRCA1:c.980G>A (p.Ser327Asn) BRCA1:c.1217G>A (p.Ser406Asn) BRCA1:c.857G>A (p.Ser286Asn) BRCA1:c.473G>A (p.Ser158Asn) BRCA1:c.1361G>A (p.Ser454Asn) BRCA1:c.1220G>A (p.Ser407Asn) BRCA1:c.787+574G>A BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | polymerase chain reaction | missense mutation | Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. BMC cancer:2008 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 75 | 85 | p.Pro509Leu p.Pro509Ser p.Asp438Tyr p.Ser428Phe p.Tyr424His p.Glu394Phe p.Arg3Trp | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1441G>T (p.Asp481Tyr) CHEK2:c.649G>T (p.Asp217Tyr) CHEK2:c.1111G>T (p.Asp371Tyr) CHEK2:c.1312G>T (p.Asp438Tyr) CHEK2:c.1225G>T (p.Asp409Tyr) CHEK2:c.1312G>T CHEK2:c.1525C>T CHEK2:c.1654C>T (p.Pro552Ser) CHEK2:c.862C>T (p.Pro288Ser) CHEK2:c.1324C>T (p.Pro442Ser) CHEK2:c.1525C>T (p.Pro509Ser) CHEK2:c.1438C>T (p.Pro480Ser) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.1526C>T CHEK2:c.1655C>T (p.Pro552Leu) CHEK2:c.863C>T (p.Pro288Leu) CHEK2:c.1325C>T (p.Pro442Leu) CHEK2:c.1526C>T (p.Pro509Leu) CHEK2:c.1439C>T (p.Pro480Leu) CHEK2:c.-771C>T (n.-771C>T) | Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer letters:2008 | ||||
CHEK2 gene | Breast Carcinoma | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.254C>T CHEK2:c.254C>T (p.Pro85Leu) CHEK2:c.-524C>T CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.715G>A CHEK2:c.844G>A CHEK2:c.844G>A (p.Glu282Lys) CHEK2:c.52G>A (p.Glu18Lys) CHEK2:c.514G>A (p.Glu172Lys) CHEK2:c.715G>A (p.Glu239Lys) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1270T>C CHEK2:c.1399T>C (p.Tyr467His) CHEK2:c.607T>C (p.Tyr203His) CHEK2:c.1069T>C (p.Tyr357His) CHEK2:c.1270T>C (p.Tyr424His) CHEK2:c.1183T>C (p.Tyr395His) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.539G>A (p.Arg180Gln) CHEK2:c.-368G>A CHEK2:c.410G>A (p.Arg137Gln) CHEK2:c.410G>A CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A CHEK2:c.538C>T CHEK2:c.667C>T (p.Arg223Cys) CHEK2:c.-240C>T CHEK2:c.538C>T (p.Arg180Cys) CHEK2:c.445-108C>T CHEK2:c.667C>T CHEK2:c.-704T>C CHEK2:c.74T>C (p.Val25Ala) CHEK2:c.74T>C CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.1561C>T CHEK2:c.1690C>T (p.Arg564Trp) CHEK2:c.898C>T (p.Arg300Trp) CHEK2:c.1360C>T (p.Arg454Trp) CHEK2:c.1561C>T (p.Arg521Trp) CHEK2:c.1474C>T (p.Arg492Trp) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) CHEK2:c.350G>A CHEK2:c.479G>A (p.Arg160Lys) CHEK2:c.-428G>A CHEK2:c.350G>A (p.Arg117Lys) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) CHEK2:c.7C>T CHEK2:c.7C>T (p.Arg3Trp) CHEK2:c.-771C>T CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.916G>T CHEK2:c.1045G>T (p.Gly349Trp) CHEK2:c.253G>T (p.Gly85Trp) CHEK2:c.715G>T (p.Gly239Trp) CHEK2:c.916G>T (p.Gly306Trp) CHEK2:c.917G>A CHEK2:c.1046G>A (p.Gly349Glu) CHEK2:c.254G>A (p.Gly85Glu) CHEK2:c.716G>A (p.Gly239Glu) CHEK2:c.917G>A (p.Gly306Glu) CHEK2:c.478A>G CHEK2:c.607A>G (p.Ile203Val) CHEK2:c.-300A>G CHEK2:c.478A>G (p.Ile160Val) CHEK2:c.444+152A>G CHEK2:c.565A>G CHEK2:c.694A>G (p.Ile232Val) CHEK2:c.-213A>G CHEK2:c.565A>G (p.Ile189Val) CHEK2:c.445-81A>G CHEK2:c.967A>C CHEK2:c.1096A>C (p.Thr366Pro) CHEK2:c.304A>C (p.Thr102Pro) CHEK2:c.766A>C (p.Thr256Pro) CHEK2:c.967A>C (p.Thr323Pro) CHEK2:c.953G>A CHEK2:c.1082G>A (p.Arg361His) CHEK2:c.290G>A (p.Arg97His) CHEK2:c.752G>A (p.Arg251His) CHEK2:c.953G>A (p.Arg318His) CHEK2:c.469A>G CHEK2:c.598A>G (p.Ile200Val) CHEK2:c.-309A>G CHEK2:c.469A>G (p.Ile157Val) CHEK2:c.444+143A>G CHEK2:c.844G>C (p.Glu282Gln) CHEK2:c.52G>C (p.Glu18Gln) CHEK2:c.514G>C (p.Glu172Gln) CHEK2:c.715G>C (p.Glu239Gln) CHEK2:c.715G>C CHEK2:c.176C>A CHEK2:c.176C>A (p.Thr59Lys) CHEK2:c.-602C>A CHEK2:c.1199C>T (p.Ser400Phe) CHEK2:c.407C>T (p.Ser136Phe) CHEK2:c.869C>T (p.Ser290Phe) CHEK2:c.1070C>T (p.Ser357Phe) CHEK2:c.1009-1053C>T CHEK2:c.1070C>T CHEK2:c.1427C>A CHEK2:c.1556C>A (p.Thr519Lys) CHEK2:c.764C>A (p.Thr255Lys) CHEK2:c.1226C>A (p.Thr409Lys) CHEK2:c.1427C>A (p.Thr476Lys) CHEK2:c.1340C>A (p.Thr447Lys) | nucleaotide-sequencing | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Human molecular genetics:2012 | ||||||
ATM gene CHEK2 gene MUTYH gene MSH2 gene TP53 gene | Breast Carcinoma | 278 | double heterozygous heterozygous | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) TP53:c.55C>A (p.Pro19Thr) TP53:c.334C>A (p.Pro112Thr) TP53:c.-27C>A BRCA2:c.62A>G (p.Lys21Arg) MSH2:c.1787A>G (p.Asn596Ser) MSH2:c.1589A>G (p.Asn530Ser) MSH2:c.1787A>G PMS2:c.86G>C (p.Gly29Ala) PMS2:c.-130G>C PMS2:c.-320G>C PMS2:c.-799G>C PMS2:c.-399G>C PMS2:c.-52-1911G>C PMS2:c.-242-1911G>C MUTYH:c.1174C>A (p.Leu392Met) MUTYH:c.1258C>A (p.Leu420Met) MUTYH:c.1219C>A (p.Leu407Met) MUTYH:c.1207C>A (p.Leu403Met) MUTYH:c.898C>A (p.Leu300Met) MUTYH:c.829C>A (p.Leu277Met) MUTYH:c.1249C>A (p.Leu417Met) BRCA1:c.966T>G (p.Asp322Glu) BRCA1:c.969T>G (p.Asp323Glu) BRCA1:c.1110T>G (p.Asp370Glu) BRCA1:c.1107T>G (p.Asp369Glu) BRCA1:c.1408G>A (p.Glu470Lys) BRCA1:c.1645G>A (p.Glu549Lys) BRCA1:c.1285G>A (p.Glu429Lys) BRCA1:c.901G>A (p.Glu301Lys) BRCA1:c.1789G>A (p.Glu597Lys) BRCA1:c.1648G>A (p.Glu550Lys) BRCA1:c.787+1002G>A BRCA2:c.502C>A (p.Pro168Thr) BRCA2:c.742G>A (p.Ala248Thr) BRCA2:c.94T>C (p.Phe32Leu) MSH6:c.1932G>C (p.Arg644Ser) MSH6:c.1542G>C (p.Arg514Ser) MSH6:c.1026G>C (p.Arg342Ser) MSH6:c.3245C>T (p.Pro1082Leu) MSH6:c.2855C>T (p.Pro952Leu) MSH6:c.2339C>T (p.Pro780Leu) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MLH1:c.1880G>A (p.Arg627His) MLH1:c.1151G>A (p.Arg384His) MLH1:c.1100G>A (p.Arg367His) MLH1:c.2081G>A (p.Arg694His) MLH1:c.2075G>A (p.Arg692His) MLH1:c.2009G>A (p.Arg670His) MSH2:c.1321A>C (p.Thr441Pro) MSH2:c.1123A>C (p.Thr375Pro) MSH2:c.1321A>C MSH2:c.2503A>C (p.Asn835His) MSH2:c.2503A>C MSH2:c.2305A>C (p.Asn769His) BRCA2:c.2835A>C (p.Lys945Asn) MSH6:c.3203G>A (p.Arg1068Gln) MSH6:c.2813G>A (p.Arg938Gln) MSH6:c.2297G>A (p.Arg766Gln) MSH6:c.3203G>A PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.94C>G (p.Leu32Val) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.7313C>T (p.Thr2438Ile) ATM:c.641-21148G>A ATM:c.*38+5001G>A ATM:c.7778A>G (p.Gln2593Arg) ATM:c.641-22956T>C ATM:c.*38+3193T>C ATM:c.8156G>A (p.Arg2719His) ATM:c.641-26778C>T ATM:c.695-557C>T ATM:c.8558C>G (p.Thr2853Arg) ATM:c.641-36811G>C ATM:c.695-10590G>C MLH1:c.1126C>G (p.Arg376Gly) MLH1:c.397C>G (p.Arg133Gly) MLH1:c.346C>G (p.Arg116Gly) MLH1:c.1420C>G (p.Arg474Gly) MLH1:c.1321C>G (p.Arg441Gly) MLH1:c.651C>G (p.His217Gln) MLH1:c.-79C>G MLH1:c.945C>G (p.His315Gln) MLH1:c.846C>G (p.His282Gln) MLH1:c.-36-5267C>G PMS2:c.691G>C (p.Asp231His) PMS2:c.778G>C (p.Asp260His) PMS2:c.163G>C (p.Asp55His) PMS2:c.523G>C (p.Asp175His) PMS2:c.1096G>C (p.Asp366His) PMS2:c.787G>C (p.Asp263His) PMS2:c.583+2125G>C PMS2:c.988+2125G>C PMS2:c.-240C>G PMS2:c.166C>G (p.Leu56Val) PMS2:c.-50C>G PMS2:c.-719C>G PMS2:c.-319C>G PMS2:c.215G>A (p.Gly72Glu) PMS2:c.620G>A (p.Gly207Glu) PMS2:c.302G>A (p.Gly101Glu) PMS2:c.-314G>A PMS2:c.311G>A (p.Gly104Glu) PMS2:c.133-1770G>A NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) MRE11:c.529G>A (p.Ala177Thr) CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) CHEK2:c.500G>A CHEK2:c.500G>A (p.Gly167Glu) CHEK2:c.445-146G>A CHEK2:c.629G>A (p.Gly210Glu) CHEK2:c.-278G>A TP53:c.*115T>G TP53:c.979T>G (p.Ser327Ala) TP53:c.*203T>G TP53:c.619T>G (p.Ser207Ala) TP53:c.1096T>G TP53:c.1096T>G (p.Ser366Ala) ATM:c.8266A>T (p.Lys2756Ter) ATM:c.641-26888T>A ATM:c.695-667T>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) MRE11:c.1090C>T (p.Arg364Ter) BARD1:c.1652C>G BARD1:c.1652C>G (p.Ser551Ter) BARD1:c.1595C>G (p.Ser532Ter) BARD1:c.299C>G (p.Ser100Ter) BARD1:c.242C>G (p.Ser81Ter) BARD1:c.365-21964C>G CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.8558C>T (p.Thr2853Met) ATM:c.641-36811G>A ATM:c.695-10590G>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A MSH2:c.55T>C (p.Phe19Leu) MSH2:c.55T>C MSH2:c.-31+71T>C MSH6:c.1061G>T (p.Gly354Val) MSH6:c.671G>T (p.Gly224Val) MSH6:c.155G>T (p.Gly52Val) TP53:c.604G>C (p.Gly202Arg) TP53:c.*107G>C TP53:c.*19G>C TP53:c.883G>C (p.Gly295Arg) TP53:c.523G>C (p.Gly175Arg) MUTYH:c.206G>A (p.Arg69Gln) MUTYH:c.290G>A (p.Arg97Gln) MUTYH:c.251G>A (p.Arg84Gln) MUTYH:c.239G>A (p.Arg80Gln) MUTYH:c.-71G>A MUTYH:c.-66G>A MUTYH:c.281G>A (p.Arg94Gln) PMS2:c.944G>A (p.Arg315Gln) PMS2:c.626G>A (p.Arg209Gln) PMS2:c.539G>A (p.Arg180Gln) PMS2:c.11G>A (p.Arg4Gln) PMS2:c.371G>A (p.Arg124Gln) PMS2:c.635G>A (p.Arg212Gln) PMS2:c.944G>A TP53:c.374C>T TP53:c.374C>T (p.Thr125Met) TP53:c.257C>T (p.Thr86Met) COL3A1:c.2002C>A (p.Pro668Thr) TP53:c.472C>T (p.Arg158Cys) TP53:c.751C>T (p.Arg251Cys) TP53:c.391C>T (p.Arg131Cys) RAD50:c.1679G>T RAD50:c.1679G>T (p.Ser560Ile) MLH1:c.1879C>G (p.Arg627Gly) MLH1:c.1150C>G (p.Arg384Gly) MLH1:c.1099C>G (p.Arg367Gly) MLH1:c.2080C>G (p.Arg694Gly) MLH1:c.2074C>G (p.Arg692Gly) MLH1:c.2008C>G (p.Arg670Gly) BRIP1:c.2992_2993del (p.Lys998fs) PALB2:c.23C>T (p.Pro8Leu) ATM:c.4087A>G (p.Thr1363Ala) RAD50:c.2177G>A (p.Arg726His) RAD50:c.2177G>A RAD50:c.1253_1254delTT RAD50:c.1253_1254del (p.Phe418fs) NBN:c.1274G>A (p.Arg425Lys) NBN:c.1028G>A (p.Arg343Lys) RAD50:c.260G>A RAD50:c.260G>A (p.Arg87His) CDKN2A:c.104G>C (p.Gly35Ala) CDKN2A:c.-3-3516G>C CDKN2A:c.194-3516G>C ATM:c.6839del ATM:c.6839del (p.Gln2280fs) ATM:c.641-17018del ATM:c.*38+9131del RAD50:c.3824A>G RAD50:c.3824A>G (p.Glu1275Gly) TP53:c.*186G>T TP53:c.*98G>T TP53:c.962G>T (p.Gly321Val) TP53:c.602G>T (p.Gly201Val) TP53:c.1079G>T (p.Gly360Val) BRCA2:c.818C>T (p.Ser273Leu) MSH6:c.3478G>A (p.Val1160Ile) MSH6:c.3088G>A (p.Val1030Ile) MSH6:c.2572G>A (p.Val858Ile) MLH1:c.1878_1879delinsAG (p.Arg627Gly) MLH1:c.1149_1150delinsAG (p.Arg384Gly) MLH1:c.1098_1099delinsAG (p.Arg367Gly) MLH1:c.2079_2080delinsAG (p.Arg694Gly) MLH1:c.2073_2074delinsAG (p.Arg692Gly) MLH1:c.2007_2008delinsAG (p.Arg670Gly) ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T BRCA2:c.4813G>A (p.Val1605Ile) ATM:c.8155C>T (p.Arg2719Cys) ATM:c.641-26777G>A ATM:c.695-556G>A MUTYH:c.887C>T (p.Ser296Leu) MUTYH:c.971C>T (p.Ser324Leu) MUTYH:c.932C>T (p.Ser311Leu) MUTYH:c.920C>T (p.Ser307Leu) MUTYH:c.611C>T (p.Ser204Leu) MUTYH:c.542C>T (p.Ser181Leu) MUTYH:c.962C>T (p.Ser321Leu) STK11:c.976C>A (p.Pro326Thr) MLH1:c.-205G>A MLH1:c.-964G>A MLH1:c.-1077G>A MLH1:c.-986G>A MLH1:c.-747G>A MLH1:c.-645G>A MLH1:c.-742G>A MLH1:c.-974G>A MLH1:c.80G>A (p.Arg27Gln) ATM:c.3601T>A (p.Phe1201Ile) PMS2:c.611A>G (p.Asn204Ser) PMS2:c.293A>G (p.Asn98Ser) PMS2:c.206A>G (p.Asn69Ser) PMS2:c.-323A>G PMS2:c.302A>G (p.Asn101Ser) PMS2:c.133-1779A>G PMS2:c.611A>G BRCA1:c.2087G>T (p.Arg696Ile) BRCA1:c.2324G>T (p.Arg775Ile) BRCA1:c.1964G>T (p.Arg655Ile) BRCA1:c.1580G>T (p.Arg527Ile) BRCA1:c.2468G>T (p.Arg823Ile) BRCA1:c.2327G>T (p.Arg776Ile) BRCA1:c.787+1681G>T MSH6:c.1870G>A (p.Gly624Ser) MSH6:c.1480G>A (p.Gly494Ser) MSH6:c.964G>A (p.Gly322Ser) BRCA2:c.3836A>G (p.Asn1279Ser) ATM:c.5080G>A (p.Ala1694Thr) MSH6:c.1231A>T (p.Arg411Trp) MSH6:c.841A>T (p.Arg281Trp) MSH6:c.325A>T (p.Arg109Trp) ATM:c.8774G>T (p.Gly2925Val) ATM:c.640+32052C>A ATM:c.695-18576C>A BRCA2:c.6463C>G (p.Leu2155Val) CHEK2:c.506T>C CHEK2:c.635T>C (p.Phe212Ser) CHEK2:c.-272T>C CHEK2:c.506T>C (p.Phe169Ser) CHEK2:c.445-140T>C RAD50:c.3358G>C RAD50:c.3358G>C (p.Asp1120His) RAD50:c.1680T>A RAD50:c.1680T>A (p.Ser560Arg) CHEK2:c.163T>G (p.Ser55Ala) CHEK2:c.-615T>G CHEK2:c.163T>G MRE11:c.1378G>T (p.Glu460Ter) | nucleaotide-sequencing | Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genetics in medicine : official journal of the American College of Medical Genetics:2015 | ||||
CHEK2 gene | Breast Carcinoma breast | 45879 | p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1111C>T CHEK2:c.1240C>T (p.His414Tyr) CHEK2:c.448C>T (p.His150Tyr) CHEK2:c.910C>T (p.His304Tyr) CHEK2:c.1111C>T (p.His371Tyr) CHEK2:c.1024C>T (p.His342Tyr) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) CHEK2:c.908+1G>A CHEK2:c.707+1G>A CHEK2:c.245+1G>A CHEK2:c.1037+1G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) CHEK2:c.279G>A CHEK2:c.279G>A (p.Trp93Ter) CHEK2:c.-499G>A CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.1462-2A>G CHEK2:c.1375-2A>G CHEK2:c.1261-2A>G CHEK2:c.799-2A>G CHEK2:c.1591-2A>G CHEK2:c.1567delC CHEK2:c.1696del (p.Arg566fs) CHEK2:c.904del (p.Arg302fs) CHEK2:c.1366del (p.Arg456fs) CHEK2:c.1567del (p.Arg523fs) CHEK2:c.1480del (p.Arg494fs) CHEK2:c.1368dupA CHEK2:c.1497dup (p.Glu500fs) CHEK2:c.705dup (p.Glu236fs) CHEK2:c.1167dup (p.Glu390fs) CHEK2:c.1368dup (p.Glu457fs) CHEK2:c.1281dup (p.Glu428fs) CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) CHEK2:c.683+1G>T CHEK2:c.482+5492G>T CHEK2:c.20+1G>T CHEK2:c.812+1G>T CHEK2:c.277delT CHEK2:c.277del (p.Trp93fs) CHEK2:c.-501del CHEK2:c.247delC CHEK2:c.247del (p.Gln83fs) CHEK2:c.-531del CHEK2:c.1434delA CHEK2:c.1563del (p.Glu522fs) CHEK2:c.771del (p.Glu258fs) CHEK2:c.1233del (p.Glu412fs) CHEK2:c.1434del (p.Glu479fs) CHEK2:c.1347del (p.Glu450fs) CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) | Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. Cancer genetics:2016 | |||||
MUTYH gene APC gene PMS2 gene MSH6 gene MSH2 gene MLH1 gene | Colorectal Carcinoma colorectal cancer type x hereditary colorectal cancer | 1231 | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) MLH1:c.382C>T (p.Arg128Ter) MLH1:c.-141C>T MLH1:c.-254C>T MLH1:c.-151C>T MLH1:c.676C>T (p.Arg226Ter) MLH1:c.577C>T (p.Arg193Ter) MUTYH:c.1192C>T (p.Arg398Cys) MUTYH:c.1276C>T (p.Arg426Cys) MUTYH:c.1237C>T (p.Arg413Cys) MUTYH:c.1225C>T (p.Arg409Cys) MUTYH:c.916C>T (p.Arg306Cys) MUTYH:c.847C>T (p.Arg283Cys) MUTYH:c.1267C>T (p.Arg423Cys) MUTYH:c.1336C>T (p.Arg446Cys) MUTYH:c.1420C>T (p.Arg474Cys) MUTYH:c.1381C>T (p.Arg461Cys) MUTYH:c.1369C>T (p.Arg457Cys) MUTYH:c.1060C>T (p.Arg354Cys) MUTYH:c.991C>T (p.Arg331Cys) MUTYH:c.1411C>T (p.Arg471Cys) MUTYH:c.505-2A>G MUTYH:c.850-2A>G MUTYH:c.895-2A>G MUTYH:c.925-2A>G MUTYH:c.934-2A>G MUTYH:c.574-2A>G MUTYH:c.853-2A>G MUTYH:c.883-2A>G MSH6:c.2057G>A (p.Gly686Asp) MSH6:c.1667G>A (p.Gly556Asp) MSH6:c.1151G>A (p.Gly384Asp) MSH6:c.2150_2153del (p.Val717fs) MSH6:c.1760_1763del (p.Val587fs) MSH6:c.1244_1247del (p.Val415fs) MSH6:c.2931C>G (p.Tyr977Ter) MSH6:c.2541C>G (p.Tyr847Ter) MSH6:c.2025C>G (p.Tyr675Ter) MSH6:c.3013C>T (p.Arg1005Ter) MSH6:c.2623C>T (p.Arg875Ter) MSH6:c.2107C>T (p.Arg703Ter) MSH6:c.3284G>A (p.Arg1095His) MSH6:c.2894G>A (p.Arg965His) MSH6:c.2378G>A (p.Arg793His) MSH6:c.467C>G (p.Ser156Ter) MSH6:c.-436C>G MSH6:c.-279-2708C>G MSH6:c.238-2708C>G MSH6:c.718C>T (p.Arg240Ter) MSH6:c.328C>T (p.Arg110Ter) MSH6:c.-189C>T MSH6:c.884A>G (p.Lys295Arg) MSH6:c.494A>G (p.Lys165Arg) MSH6:c.-23A>G MLH1:c.982C>T (p.Gln328Ter) MLH1:c.253C>T (p.Gln85Ter) MLH1:c.202C>T (p.Gln68Ter) MLH1:c.1276C>T (p.Gln426Ter) MLH1:c.1177C>T (p.Gln393Ter) MLH1:c.935T>G (p.Leu312Arg) MLH1:c.884T>G (p.Leu295Arg) MLH1:c.1859T>G (p.Leu620Arg) MLH1:c.1793T>G (p.Leu598Arg) MLH1:c.1897-326T>G MLH1:c.1896+895T>G MLH1:c.1958T>G (p.Leu653Arg) MLH1:c.381-2A>G MLH1:c.-446-2A>G MLH1:c.-251-2A>G MLH1:c.282-2A>G MLH1:c.-343-2A>G MLH1:c.87-2A>G MLH1:c.-354-2A>G MLH1:c.-282G>A MLH1:c.-1041G>A MLH1:c.-1154G>A MLH1:c.-1063G>A MLH1:c.-824G>A MLH1:c.-722G>A MLH1:c.-819G>A MLH1:c.-1051G>A MLH1:c.3G>A (p.Met1Ile) MLH1:c.589-2A>G MLH1:c.-238-2A>G MLH1:c.-135-2A>G MLH1:c.490-2A>G MLH1:c.295-2A>G MSH2:c.1759+1G>A MSH2:c.1561+1G>A MSH2:c.1861C>T MSH2:c.1861C>T (p.Arg621Ter) MSH2:c.1663C>T (p.Arg555Ter) MSH2:c.1A>C (p.Met1Leu) MSH2:c.-31+17A>C MSH2:c.1A>C MSH2:c.2131C>T MSH2:c.2131C>T (p.Arg711Ter) MSH2:c.1933C>T (p.Arg645Ter) MSH2:c.279_281del MSH2:c.273TCT[2] (p.Leu94del) MSH2:c.75TCT[2] (p.Leu28del) PALB2:c.3428T>A (p.Leu1143His) BLM:c.191A>T BLM:c.191A>T (p.Asp64Val) BLM:c.-1101A>T BLM:c.3991A>G BLM:c.3991A>G (p.Arg1331Gly) BLM:c.3598A>G (p.Arg1200Gly) BLM:c.2866A>G (p.Arg956Gly) CDKN2A:c.369T>A (p.His123Gln) CDKN2A:c.216T>A (p.His72Gln) CDKN2A:c.*13T>A CDKN2A:c.*292T>A MSH6:c.2419G>A (p.Glu807Lys) MSH6:c.2029G>A (p.Glu677Lys) MSH6:c.1513G>A (p.Glu505Lys) CDH1:c.88C>A CDH1:c.88C>A (p.Pro30Thr) CDH1:c.-1528C>A CDH1:c.-1732C>A AXIN2:c.203G>A AXIN2:c.203G>A (p.Arg68Gln) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CDH1:c.164T>G CDH1:c.164T>G (p.Val55Gly) CDH1:c.-1452T>G CDH1:c.-1656T>G APC:c.5063C>T (p.Ala1688Val) APC:c.5039C>T (p.Ala1680Val) APC:c.4934C>T (p.Ala1645Val) APC:c.4925C>T (p.Ala1642Val) APC:c.4886C>T (p.Ala1629Val) APC:c.4832C>T (p.Ala1611Val) APC:c.4736C>T (p.Ala1579Val) APC:c.4706C>T (p.Ala1569Val) APC:c.4631C>T (p.Ala1544Val) APC:c.4529C>T (p.Ala1510Val) APC:c.4160C>T (p.Ala1387Val) APC:c.7679A>G (p.Asn2560Ser) APC:c.7655A>G (p.Asn2552Ser) APC:c.7550A>G (p.Asn2517Ser) APC:c.7541A>G (p.Asn2514Ser) APC:c.7502A>G (p.Asn2501Ser) APC:c.7448A>G (p.Asn2483Ser) APC:c.7352A>G (p.Asn2451Ser) APC:c.7322A>G (p.Asn2441Ser) APC:c.7247A>G (p.Asn2416Ser) APC:c.7145A>G (p.Asn2382Ser) APC:c.6776A>G (p.Asn2259Ser) APC:c.7963A>G (p.Ile2655Val) APC:c.8212A>G (p.Ile2738Val) APC:c.7888A>G (p.Ile2630Val) APC:c.8266A>G (p.Ile2756Val) APC:c.7786A>G (p.Ile2596Val) APC:c.8320A>G (p.Ile2774Val) APC:c.7417A>G (p.Ile2473Val) APC:c.8296A>G (p.Ile2766Val) APC:c.8266A>G APC:c.8191A>G (p.Ile2731Val) APC:c.8182A>G (p.Ile2728Val) MUTYH:c.229G>A (p.Asp77Asn) MUTYH:c.313G>A (p.Asp105Asn) MUTYH:c.274G>A (p.Asp92Asn) MUTYH:c.262G>A (p.Asp88Asn) MUTYH:c.-48G>A MUTYH:c.-43G>A MUTYH:c.304G>A (p.Asp102Asn) MUTYH:c.616G>A (p.Val206Met) MUTYH:c.700G>A (p.Val234Met) MUTYH:c.661G>A (p.Val221Met) MUTYH:c.649G>A (p.Val217Met) MUTYH:c.340G>A (p.Val114Met) MUTYH:c.271G>A (p.Val91Met) MUTYH:c.691G>A (p.Val231Met) CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.1141A>G CHEK2:c.1270A>G (p.Met424Val) CHEK2:c.478A>G (p.Met160Val) CHEK2:c.940A>G (p.Met314Val) CHEK2:c.1141A>G (p.Met381Val) CHEK2:c.1054A>G (p.Met352Val) APC:c.4532C>T (p.Thr1511Met) APC:c.4508C>T (p.Thr1503Met) APC:c.4403C>T (p.Thr1468Met) APC:c.4394C>T (p.Thr1465Met) APC:c.4355C>T (p.Thr1452Met) APC:c.4301C>T (p.Thr1434Met) APC:c.4205C>T (p.Thr1402Met) APC:c.4175C>T (p.Thr1392Met) APC:c.4100C>T (p.Thr1367Met) APC:c.3998C>T (p.Thr1333Met) APC:c.3629C>T (p.Thr1210Met) FLCN:c.634C>T (p.Arg212Trp) FLCN:c.580C>T (p.Arg194Trp) FLCN:c.580C>T CHEK2:c.1534C>G CHEK2:c.1663C>G (p.Leu555Val) CHEK2:c.871C>G (p.Leu291Val) CHEK2:c.1333C>G (p.Leu445Val) CHEK2:c.1534C>G (p.Leu512Val) CHEK2:c.1447C>G (p.Leu483Val) CHEK2:c.428A>G CHEK2:c.557A>G (p.His186Arg) CHEK2:c.-350A>G CHEK2:c.428A>G (p.His143Arg) SMAD4:c.1245_1248del SMAD4:c.1245_1248del (p.Asp415fs) MSH6:c.650A>G (p.Asp217Gly) MSH6:c.260A>G (p.Asp87Gly) MSH6:c.-257A>G MUTYH:c.1130C>T (p.Pro377Leu) MUTYH:c.1214C>T (p.Pro405Leu) MUTYH:c.1175C>T (p.Pro392Leu) MUTYH:c.1163C>T (p.Pro388Leu) MUTYH:c.854C>T (p.Pro285Leu) MUTYH:c.785C>T (p.Pro262Leu) MUTYH:c.1205C>T (p.Pro402Leu) MUTYH:c.991C>A (p.Pro331Thr) MUTYH:c.1075C>A (p.Pro359Thr) MUTYH:c.1036C>A (p.Pro346Thr) MUTYH:c.1024C>A (p.Pro342Thr) MUTYH:c.715C>A (p.Pro239Thr) MUTYH:c.646C>A (p.Pro216Thr) MUTYH:c.1066C>A (p.Pro356Thr) MSH6:c.1636G>C (p.Glu546Gln) MSH6:c.1246G>C (p.Glu416Gln) MSH6:c.730G>C (p.Glu244Gln) MLH1:c.1039-1G>A MLH1:c.-36-1G>A MLH1:c.316-1G>A MLH1:c.940-1G>A MLH1:c.745-1G>A MSH6:c.2417C>G (p.Ser806Cys) MSH6:c.2027C>G (p.Ser676Cys) MSH6:c.1511C>G (p.Ser504Cys) APC:c.6153C>G (p.Asp2051Glu) APC:c.6129C>G (p.Asp2043Glu) APC:c.6024C>G (p.Asp2008Glu) APC:c.6015C>G (p.Asp2005Glu) APC:c.5976C>G (p.Asp1992Glu) APC:c.5922C>G (p.Asp1974Glu) APC:c.5826C>G (p.Asp1942Glu) APC:c.5796C>G (p.Asp1932Glu) APC:c.5721C>G (p.Asp1907Glu) APC:c.5619C>G (p.Asp1873Glu) APC:c.5250C>G (p.Asp1750Glu) PALB2:c.3404G>A (p.Gly1135Glu) CHEK2:c.482A>G CHEK2:c.611A>G (p.Glu204Gly) CHEK2:c.-296A>G CHEK2:c.482A>G (p.Glu161Gly) CHEK2:c.444+156A>G MUTYH:c.919C>G (p.Pro307Ala) MUTYH:c.640C>G (p.Pro214Ala) MUTYH:c.916C>G (p.Pro306Ala) MUTYH:c.571C>G (p.Pro191Ala) MUTYH:c.1000C>G (p.Pro334Ala) MUTYH:c.991C>G (p.Pro331Ala) MUTYH:c.961C>G (p.Pro321Ala) MUTYH:c.949C>G (p.Pro317Ala) MSH6:c.2079dup (p.Cys694fs) MSH6:c.1689dup (p.Cys564fs) MSH6:c.1173dup (p.Cys392fs) MSH6:c.2230dup (p.Glu744fs) MSH6:c.1840dup (p.Glu614fs) MSH6:c.1324dup (p.Glu442fs) APC:c.8483A>G (p.Asn2828Ser) APC:c.8459A>G (p.Asn2820Ser) APC:c.8354A>G (p.Asn2785Ser) APC:c.8345A>G (p.Asn2782Ser) APC:c.8306A>G (p.Asn2769Ser) APC:c.8252A>G (p.Asn2751Ser) APC:c.8156A>G (p.Asn2719Ser) APC:c.8126A>G (p.Asn2709Ser) APC:c.8051A>G (p.Asn2684Ser) APC:c.7949A>G (p.Asn2650Ser) APC:c.7580A>G (p.Asn2527Ser) PALB2:c.1846G>C (p.Asp616His) PALB2:c.1766C>T (p.Thr589Met) MLH1:c.380+2T>C MLH1:c.-447+2T>C MLH1:c.-252+2T>C MLH1:c.281+2T>C MLH1:c.-344+2T>C MLH1:c.86+2T>C MLH1:c.-355+2T>C MSH2:c.1464-1G>A MSH2:c.1662-1G>A PALB2:c.2360C>T (p.Thr787Ile) MSH2:c.2297delT MSH2:c.2297del (p.Ile766fs) MSH2:c.2099del (p.Ile700fs) MSH6:c.900dup (p.Lys301fs) MSH6:c.510dup (p.Lys171fs) MSH6:c.-7dup MSH2:c.842C>G (p.Ser281Ter) MSH2:c.644C>G (p.Ser215Ter) MSH2:c.842C>G MLH1:c.381-1G>A MLH1:c.-446-1G>A MLH1:c.-251-1G>A MLH1:c.282-1G>A MLH1:c.-343-1G>A MLH1:c.87-1G>A MLH1:c.-354-1G>A GALNT12:c.907G>A (p.Asp303Asn) GALNT12:c.907G>A MSH2:c.2T>G (p.Met1Arg) MSH2:c.2T>G MSH2:c.-31+18T>G MLH1:c.1228_1229del (p.Leu411fs) MLH1:c.499_500del (p.Leu168fs) MLH1:c.448_449del (p.Leu151fs) MLH1:c.1522_1523del (p.Leu509fs) MLH1:c.1423_1424del (p.Leu476fs) STK11:c.31A>G (p.Met11Val) MLH1:c.1358A>G (p.Asn453Ser) MLH1:c.629A>G (p.Asn210Ser) MLH1:c.578A>G (p.Asn193Ser) MLH1:c.1652A>G (p.Asn551Ser) MLH1:c.1553A>G (p.Asn518Ser) PALB2:c.23C>T (p.Pro8Leu) BLM:c.2638G>C BLM:c.2638G>C (p.Glu880Gln) BLM:c.1513G>C (p.Glu505Gln) MSH2:c.1847C>G MSH2:c.1847C>G (p.Pro616Arg) MSH2:c.1649C>G (p.Pro550Arg) AXIN2:c.1168A>G AXIN2:c.1168A>G (p.Ser390Gly) AXIN2:c.623C>T AXIN2:c.623C>T (p.Ala208Val) MSH2:c.1510+2T>C MSH2:c.1312+2T>C APC:c.373A>G (p.Met125Val) APC:c.268A>G (p.Met90Val) APC:c.343A>G (p.Met115Val) APC:c.166A>G (p.Met56Val) APC:c.-693A>G APC:c.343A>G MSH6:c.2862C>G (p.Tyr954Ter) MSH6:c.2472C>G (p.Tyr824Ter) MSH6:c.1956C>G (p.Tyr652Ter) MSH2:c.420dupT MSH2:c.420dup (p.Met141fs) MSH2:c.222dup (p.Met75fs) AXIN2:c.1386_1387delinsTT (p.Arg463Cys) AXIN2:c.1386_1387delCCinsTT STK11:c.44G>A (p.Gly15Asp) MSH6:c.2931C>A (p.Tyr977Ter) MSH6:c.2541C>A (p.Tyr847Ter) MSH6:c.2025C>A (p.Tyr675Ter) MUTYH:c.836G>A (p.Arg279Gln) MUTYH:c.920G>A (p.Arg307Gln) MUTYH:c.881G>A (p.Arg294Gln) MUTYH:c.869G>A (p.Arg290Gln) MUTYH:c.560G>A (p.Arg187Gln) MUTYH:c.491G>A (p.Arg164Gln) MUTYH:c.911G>A (p.Arg304Gln) APC:c.854A>G (p.Asp285Gly) APC:c.884A>G (p.Asp295Gly) APC:c.779A>G (p.Asp260Gly) APC:c.770A>G (p.Asp257Gly) APC:c.677A>G (p.Asp226Gly) APC:c.5A>G (p.Asp2Gly) SMAD4:c.1106A>G (p.Asn369Ser) MLH1:c.629A>C (p.His210Pro) MLH1:c.-101A>C MLH1:c.923A>C (p.His308Pro) MLH1:c.824A>C (p.His275Pro) MLH1:c.-36-5289A>C MSH3:c.3404T>G MSH3:c.3404T>G (p.Leu1135Arg) MSH3:c.1571A>C MSH3:c.1571A>C (p.Asn524Thr) MSH3:c.1469C>A MSH3:c.1469C>A (p.Ser490Tyr) FLCN:c.992C>T FLCN:c.1046C>T (p.Ser349Phe) FLCN:c.992C>T (p.Ser331Phe) MLH1:c.381-2A>T MLH1:c.-446-2A>T MLH1:c.-251-2A>T MLH1:c.282-2A>T MLH1:c.-343-2A>T MLH1:c.87-2A>T MLH1:c.-354-2A>T MSH3:c.1361G>T MSH3:c.1361G>T (p.Arg454Leu) MSH6:c.43C>T (p.Pro15Ser) MSH6:c.-694C>T FLCN:c.1A>G (p.Met1Val) APC:c.2276A>G (p.Asn759Ser) APC:c.2252A>G (p.Asn751Ser) APC:c.2147A>G (p.Asn716Ser) APC:c.2138A>G (p.Asn713Ser) APC:c.2099A>G (p.Asn700Ser) APC:c.2045A>G (p.Asn682Ser) APC:c.1949A>G (p.Asn650Ser) APC:c.1919A>G (p.Asn640Ser) APC:c.1844A>G (p.Asn615Ser) APC:c.1742A>G (p.Asn581Ser) APC:c.1373A>G (p.Asn458Ser) PALB2:c.829G>A (p.Asp277Asn) FLCN:c.1451T>C (p.Val484Ala) FLCN:c.1397T>C (p.Val466Ala) FLCN:c.1397T>C APC:c.5484T>G (p.Asp1828Glu) APC:c.5460T>G (p.Asp1820Glu) APC:c.5355T>G (p.Asp1785Glu) APC:c.5346T>G (p.Asp1782Glu) APC:c.5307T>G (p.Asp1769Glu) APC:c.5253T>G (p.Asp1751Glu) APC:c.5157T>G (p.Asp1719Glu) APC:c.5127T>G (p.Asp1709Glu) APC:c.5052T>G (p.Asp1684Glu) APC:c.4950T>G (p.Asp1650Glu) APC:c.4581T>G (p.Asp1527Glu) MSH2:c.2T>C (p.Met1Thr) MSH2:c.-31+18T>C MSH2:c.2T>C MLH1:c.-1102_-1095del MLH1:c.-1072_-1065del MLH1:c.-633_-626del MLH1:c.-833_-826del MLH1:c.-731_-724del MLH1:c.-828_-821del MLH1:c.-1060_-1053del MLH1:c.-7_1del (p.Met1fs) APC:c.3731A>G (p.Lys1244Arg) APC:c.3707A>G (p.Lys1236Arg) APC:c.3602A>G (p.Lys1201Arg) APC:c.3593A>G (p.Lys1198Arg) APC:c.3554A>G (p.Lys1185Arg) APC:c.3500A>G (p.Lys1167Arg) APC:c.3404A>G (p.Lys1135Arg) APC:c.3374A>G (p.Lys1125Arg) APC:c.3299A>G (p.Lys1100Arg) APC:c.3197A>G (p.Lys1066Arg) APC:c.2828A>G (p.Lys943Arg) MLH3:c.1018A>G (p.Ile340Val) PALB2:c.3232T>A (p.Cys1078Ser) MSH6:c.1384C>A (p.Pro462Thr) MSH6:c.994C>A (p.Pro332Thr) MSH6:c.478C>A (p.Pro160Thr) STK11:c.1258G>T (p.Ala420Ser) SMAD4:c.1217C>T (p.Ala406Val) MSH6:c.1901dup (p.Leu634fs) MSH6:c.1511dup (p.Leu504fs) MSH6:c.995dup (p.Leu332fs) APC:c.1096G>A (p.Asp366Asn) APC:c.1126G>A (p.Asp376Asn) APC:c.1021G>A (p.Asp341Asn) APC:c.1012G>A (p.Asp338Asn) APC:c.919G>A (p.Asp307Asn) APC:c.247G>A (p.Asp83Asn) APC:c.964-141G>A APC:c.859-141G>A APC:c.934-141G>A APC:c.757-141G>A BLM:c.2474C>T BLM:c.2474C>T (p.Pro825Leu) BLM:c.1349C>T (p.Pro450Leu) PALB2:c.2234A>G (p.Lys745Arg) CDH1:c.2602C>A CDH1:c.2419C>A (p.Arg807Ser) CDH1:c.1054C>A (p.Arg352Ser) CDH1:c.637C>A (p.Arg213Ser) CDH1:c.2602C>A (p.Arg868Ser) MSH6:c.3108_3109del (p.Phe1037fs) MSH6:c.2718_2719del (p.Phe907fs) MSH6:c.2202_2203del (p.Phe735fs) BLM:c.715G>C BLM:c.715G>C (p.Asp239His) BLM:c.-577G>C CDKN2A:c.43T>C (p.Cys15Arg) CDKN2A:c.-4+532T>C MSH3:c.316C>G MSH3:c.316C>G (p.Gln106Glu) MSH3:c.2041C>T MSH3:c.2041C>T (p.Pro681Ser) MSH3:c.2281G>T MSH3:c.2281G>T (p.Val761Leu) MSH3:c.2686G>T MSH3:c.2686G>T (p.Gly896Ter) MSH3:c.2069A>G (p.Asn690Ser) MSH3:c.2069A>G MSH3:c.2176A>C MSH3:c.2176A>C (p.Ile726Leu) MSH3:c.3346G>T MSH3:c.3346G>T (p.Ala1116Ser) MLH1:c.1010A>G (p.Lys337Arg) MLH1:c.959A>G (p.Lys320Arg) MLH1:c.1940A>G (p.Lys647Arg) MLH1:c.1934A>G (p.Lys645Arg) MLH1:c.1868A>G (p.Lys623Arg) MLH1:c.1896+1264A>G FLCN:c.1360T>G FLCN:c.1414T>G (p.Cys472Gly) FLCN:c.1360T>G (p.Cys454Gly) MSH3:c.2288G>T MSH3:c.2288G>T (p.Cys763Phe) MSH3:c.2336G>A MSH3:c.2336G>A (p.Arg779His) BLM:c.2843C>A (p.Ala948Glu) BLM:c.1718C>A (p.Ala573Glu) BLM:c.2843C>A BLM:c.4177A>G BLM:c.4177A>G (p.Asn1393Asp) BLM:c.3784A>G (p.Asn1262Asp) BLM:c.3052A>G (p.Asn1018Asp) SMAD4:c.457C>T (p.Pro153Ser) MSH3:c.3184G>A MSH3:c.3184G>A (p.Gly1062Arg) MSH3:c.2005C>T MSH3:c.2005C>T (p.Arg669Trp) MSH3:c.2480A>G MSH3:c.2480A>G (p.His827Arg) MSH2:c.1808-7_1824del MSH2:c.2006-7_2022del MSH6:c.1729delC MSH6:c.1729del (p.Arg577fs) MSH6:c.1339del (p.Arg447fs) MSH6:c.823del (p.Arg275fs) CDKN2A:c.379G>T (p.Ala127Ser) CDKN2A:c.226G>T (p.Ala76Ser) CDKN2A:c.*23G>T CDKN2A:c.*302G>T CDKN2A:c.379G>T MSH3:c.2732T>G MSH3:c.2732T>G (p.Leu911Trp) | nonsense mutation splice site mutation premature stop missense mutation | Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Molecular genetics & genomic medicine:2017 | |||||
PALB2 gene RAD51D gene BRCA1 gene CHEK2 gene ATM gene BRCA2 gene | Malignant neoplasm of prostate prostate | 692 | CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T BRCA2:c.6591_6592del (p.Glu2198fs) BRCA1:c.-8T>G BRCA1:c.181T>G (p.Cys61Gly) BRCA1:c.40T>G (p.Cys14Gly) BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) BRCA2:c.3170_3174del (p.Lys1057fs) BRCA2:c.3922G>T (p.Glu1308Ter) BRCA2:c.4472_4475del (p.Leu1491fs) BRCA2:c.4638del (p.Phe1546fs) BRCA2:c.5645C>A (p.Ser1882Ter) BRCA2:c.8575del (p.Gln2859fs) BRCA2:c.517-2A>G BRCA2:c.5585_5588del (p.Val1862fs) BRCA2:c.5864C>A (p.Ser1955Ter) BRCA2:c.6757_6758del (p.Leu2253fs) BRCA2:c.8754+4A>G BRCA2:c.5864C>G (p.Ser1955Ter) BRCA1:c.4009C>T (p.Gln1337Ter) BRCA1:c.913C>T (p.Gln305Ter) BRCA1:c.4222C>T (p.Gln1408Ter) BRCA1:c.4099C>T (p.Gln1367Ter) BRCA1:c.3958C>T (p.Gln1320Ter) BRCA1:c.5075-1G>A BRCA1:c.4934-1G>A BRCA1:c.1763-1G>A BRCA1:c.5138-1G>A BRCA1:c.1438C>T (p.Arg480Ter) BRCA1:c.1411C>T (p.Arg471Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.5251C>T (p.Arg1751Ter) BRCA1:c.5110C>T (p.Arg1704Ter) BRCA1:c.1939C>T (p.Arg647Ter) BRCA1:c.5314C>T (p.Arg1772Ter) BRCA1:c.2385_2388delAGTT (p.Val796Ilefs) BRCA1:c.2622_2625delAGTT (p.Val875Ilefs) BRCA1:c.2262_2265delAGTT (p.Val755Ilefs) BRCA1:c.1878_1881delAGTT (p.Val627Ilefs) BRCA1:c.2766_2769delAGTT (p.Val923Ilefs) BRCA1:c.2767_2770del (p.Val923fs) BRCA1:c.2626_2629del (p.Val876fs) BRCA1:c.788-1732_788-1729del MSH6:c.642C>G (p.Tyr214Ter) MSH6:c.252C>G (p.Tyr84Ter) MSH6:c.-265C>G PALB2:c.3113G>A (p.Trp1038Ter) ATM:c.1339C>T (p.Arg447Ter) ATM:c.3802del (p.Glu1267_Val1268insTer) ATM:c.5932G>T (p.Glu1978Ter) ATM:c.641-3353C>A ATM:c.*39-3353C>A ATM:c.7630-2A>C ATM:c.641-22806T>G ATM:c.*38+3343T>G CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A BRIP1:c.2273dup (p.Ala759fs) ATM:c.1402_1403del (p.Lys468fs) ATM:c.7913G>A (p.Trp2638Ter) ATM:c.641-23815C>T ATM:c.*38+2334C>T ATM:c.4373del (p.Gly1458fs) ATM:c.790del (p.Tyr264fs) CHEK2:c.591delA CHEK2:c.720del (p.Val241fs) CHEK2:c.-187del CHEK2:c.591del (p.Val198fs) CHEK2:c.445-55del PALB2:c.226del (p.Ile76fs) PALB2:c.2052del (p.Arg686fs) ATM:c.742C>T (p.Arg248Ter) ATM:c.8418+5_8418+8del ATM:c.641-34304_641-34301del ATM:c.695-8083_695-8080del RAD51C:c.93delG RAD51C:c.93del (p.Phe32fs) ATM:c.6996_6999TACA[1] (p.Tyr2334Glnfs) ATM:c.7000_7003del (p.Tyr2334fs) ATM:c.641-18597_641-18594del ATM:c.*38+7552_*38+7555del MRE11:c.1222dup (p.Thr408fs) RAD51C:c.181_182delCT RAD51C:c.181_182del (p.Leu61fs) RAD51C:c.709C>T RAD51C:c.709C>T (p.Arg237Ter) MSH2:c.408del MSH2:c.408del (p.Phe136fs) MSH2:c.210del (p.Phe70fs) BRCA2:c.8754+4A>T BARD1:c.457_460dupAAAG BARD1:c.457_460dup (p.Val154fs) BARD1:c.400_403dup (p.Val135fs) BARD1:c.158+27995_158+27998dup BARD1:c.215+15644_215+15647dup BARD1:c.364+10880_364+10883dup BRCA2:c.4544dup (p.Ile1516fs) NBN:c.1958dup (p.Leu654fs) NBN:c.1712dup (p.Leu572fs) ATM:c.5910del ATM:c.5910del (p.Glu1971fs) ATM:c.641-1235del ATM:c.*39-1235del RAD51D:c.386dup (p.Gly130fs) RAD51D:c.326dup (p.Gly110fs) RAD51D:c.145-904dup NBN:c.56del NBN:c.-241del NBN:c.56del (p.Leu18_Leu19insTer) BRCA2:c.4691dup (p.Thr1566fs) BRCA2:c.2097delG (p.Gln699Hisfs) BRCA2:c.2097del (p.Gln699fs) CHEK2:c.339C>G CHEK2:c.468C>G (p.Tyr156Ter) CHEK2:c.-439C>G CHEK2:c.339C>G (p.Tyr113Ter) RAD51D:c.264-1G>A RAD51D:c.145-967G>A RAD51D:c.324-1G>A RAD51D:c.814del (p.Thr272fs) RAD51D:c.754del (p.Thr252fs) RAD51D:c.418del (p.Thr140fs) BRCA1:c.2767_2770del (p.Val923IlefsTer?) BRCA1:c.2626_2629del (p.Val876IlefsTer?) BRCA1:c.788-1732_788-1729del (n.788-1732_788-1729del) BRCA2:c.2094del (p.Gln699SerfsTer?) BRCA2:c.4544dup (p.Ile1516AspfsTer13) BRCA2:c.4691dup (p.Thr1566AspfsTer9) BRCA2:c.5364dup (p.Lys1789GlnfsTer18) BRCA2:c.5585_5588del (p.Val1862GlufsTer11) | nucleaotide-sequencing | autosomal dominant | Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53. Urologic oncology:2017 | ||||
CHEK2 gene | Malignant neoplasm of prostate | 703 | c.1100delC | CHEK2:c.433C>T CHEK2:c.562C>T CHEK2:c.562C>T (p.Arg188Trp) CHEK2:c.-345C>T CHEK2:c.433C>T (p.Arg145Trp) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CHEK2:c.542G>A CHEK2:c.671G>A (p.Arg224His) CHEK2:c.-236G>A CHEK2:c.542G>A (p.Arg181His) CHEK2:c.445-104G>A CHEK2:c.1420C>T CHEK2:c.1549C>T (p.Arg517Cys) CHEK2:c.757C>T (p.Arg253Cys) CHEK2:c.1219C>T (p.Arg407Cys) CHEK2:c.1420C>T (p.Arg474Cys) CHEK2:c.1333C>T (p.Arg445Cys) CHEK2:c.1556C>T CHEK2:c.1556C>T (p.Thr519Met) CHEK2:c.764C>T (p.Thr255Met) CHEK2:c.1226C>T (p.Thr409Met) CHEK2:c.1427C>T (p.Thr476Met) CHEK2:c.1340C>T (p.Thr447Met) CHEK2:c.1427C>T CHEK2:c.1684C>T CHEK2:c.1684C>T (p.Arg562Ter) CHEK2:c.892C>T (p.Arg298Ter) CHEK2:c.1354C>T (p.Arg452Ter) CHEK2:c.1555C>T (p.Arg519Ter) CHEK2:c.1468C>T (p.Arg490Ter) CHEK2:c.1555C>T CHEK2:c.283C>T CHEK2:c.283C>T (p.Arg95Ter) CHEK2:c.-495C>T CHEK2:c.483_485delAGA CHEK2:c.609AGA[1] (p.Glu204del) CHEK2:c.-298AGA[1] CHEK2:c.480AGA[1] (p.Glu161del) CHEK2:c.444+157_444+159del CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A CHEK2:c.793-1G>A CHEK2:c.592-1G>A CHEK2:c.130-1G>A CHEK2:c.922-1G>A CHEK2:c.1254delT CHEK2:c.1383del (p.Phe461fs) CHEK2:c.591del (p.Phe197fs) CHEK2:c.1053del (p.Phe351fs) CHEK2:c.1254del (p.Phe418fs) CHEK2:c.1167del (p.Phe389fs) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) | A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. The Prostate:2018 | |||||
FANCM gene RAD51D gene CHEK2 gene BRCA2 gene BRCA1 gene | Breast Carcinoma | c.556C>T c.5791C>T p.Ile157Thr p.Ser428Phe c.1100delC | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1229delC CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA2:c.4936_4939del (p.Glu1646fs) BRCA2:c.7007G>C (p.Arg2336Pro) FANCM:c.5791C>T FANCM:c.5713C>T (p.Arg1905Ter) FANCM:c.5791C>T (p.Arg1931Ter) RAD51D:c.556C>T (p.Arg186Ter) RAD51D:c.616C>T (p.Arg206Ter) RAD51D:c.220C>T (p.Arg74Ter) CHEK2:c.427C>T CHEK2:c.556C>T (p.His186Tyr) CHEK2:c.-351C>T CHEK2:c.427C>T (p.His143Tyr) CHEK2:c.-308T>C CHEK2:c.599T>C CHEK2:c.470T>C CHEK2:c.599T>C (p.Ile200Thr) CHEK2:c.470T>C (p.Ile157Thr) CHEK2:c.444+144T>C CHEK2:c.-308T>C (n.-308T>C) CHEK2:c.444+144T>C (n.444+144T>C) BRCA2:c.5791C>T (p.Gln1931Ter) BRCA1:c.391C>T (p.His131Tyr) BRCA1:c.682C>T (p.His228Tyr) BRCA1:c.685C>T (p.His229Tyr) BRCA1:c.4204C>T (p.His1402Tyr) BRCA1:c.4063C>T (p.His1355Tyr) BRCA1:c.895C>T (p.His299Tyr) BRCA1:c.1307C>T (p.Ser436Phe) BRCA1:c.1304C>T (p.Ser435Phe) | nucleaotide-sequencing | Mutational analysis of candidate genes in Israeli male breast cancer cases. Breast cancer research and treatment:2018 | |||||
CHEK2 gene | mendelian cancer testicular germ cell tumors | MUTYH:c.452A>G (p.Tyr151Cys) MUTYH:c.536A>G (p.Tyr179Cys) MUTYH:c.497A>G (p.Tyr166Cys) MUTYH:c.485A>G (p.Tyr162Cys) MUTYH:c.176A>G (p.Tyr59Cys) MUTYH:c.107A>G (p.Tyr36Cys) MUTYH:c.527A>G (p.Tyr176Cys) MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) CHEK2:c.1263delT CHEK2:c.1392delT CHEK2:c.1392del (p.Ser465fs) CHEK2:c.600del (p.Ser201fs) CHEK2:c.1062del (p.Ser355fs) CHEK2:c.1263del (p.Ser422fs) CHEK2:c.1176del (p.Ser393fs) CHEK2:c.349A>G CHEK2:c.478A>G (p.Arg160Gly) CHEK2:c.-429A>G CHEK2:c.349A>G (p.Arg117Gly) FANCC:c.166-4_166-1dupACAG FANCC:c.166-4_166-1dup BARD1:c.1620delA BARD1:c.1620del BARD1:c.1620del (p.Lys540fs) BARD1:c.1563del (p.Lys521fs) BARD1:c.267del (p.Lys89fs) BARD1:c.210del (p.Lys70fs) BARD1:c.365-21996del BRCA1:c.1451dup (p.Gln485Profs) BRCA1:c.1424dup (p.Gln476Profs) BRCA1:c.1028dup (p.Gln344Profs) BRCA1:c.5264dup (p.Gln1756Profs) BRCA1:c.5266dup (p.Gln1756fs) BRCA1:c.5125dup (p.Gln1709fs) BRCA1:c.1954dup (p.Gln652fs) BRCA1:c.1952dup (p.Gln652Profs) BRCA1:c.5329dup (p.Gln1777fs) CHEK2:c.444+1G>A CHEK2:c.-334+1G>A CHEK2:c.573+1G>A | Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. JAMA oncology:2019 | |||||||
MSH2 gene BRCA2 gene ATM gene | Malignant neoplasm of prostate gg5 disease gg1 disease | 1694 | ATM:c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) ATM:c.7638_7646del (p.Arg2547_Ser2549del) ATM:c.641-22822_641-22814del ATM:c.*38+3327_*38+3335del CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) BRCA2:c.5946del (p.Ser1982fs) MLH1:c.56C>T (p.Thr19Met) MLH1:c.-467C>T MLH1:c.-580C>T MLH1:c.-477C>T MLH1:c.-385C>T MLH1:c.350C>T (p.Thr117Met) MLH1:c.251C>T (p.Thr84Met) BRCA2:c.1265del (p.Asn422fs) BRCA2:c.1654del (p.Ser552fs) BRCA2:c.7558C>T (p.Arg2520Ter) MSH6:c.2194C>T (p.Arg732Ter) MSH6:c.1804C>T (p.Arg602Ter) MSH6:c.1288C>T (p.Arg430Ter) MSH2:c.1226_1227del MSH2:c.1226_1227del (p.Gln409fs) MSH2:c.1028_1029del (p.Gln343fs) BRCA2:c.2330dup (p.Asp777fs) ATM:c.1339C>T (p.Arg447Ter) TP53:c.71G>A (p.Arg24His) TP53:c.350G>A (p.Arg117His) TP53:c.-11G>A ATM:c.4373del (p.Gly1458fs) TP53:c.146G>A (p.Arg49His) TP53:c.425G>A (p.Arg142His) TP53:c.65G>A (p.Arg22His) CHEK2:c.319+2T>A CHEK2:c.-459+2T>A CHEK2:c.1009-1027G>A CHEK2:c.894+1G>A CHEK2:c.1095+1G>A CHEK2:c.432+1G>A CHEK2:c.1224+1G>A RAD51D:c.748del (p.His250fs) RAD51D:c.808del (p.His270fs) RAD51D:c.412del (p.His138fs) BRCA2:c.8169T>A (p.Asp2723Glu) ATM:c.6015dup (p.Glu2007Argfs) ATM:c.6015dup (p.Glu2007fs) ATM:c.641-6760dup ATM:c.*39-6760dup PMS2:c.1992_1995dup (p.Ser666fs) PMS2:c.2241_2244dup (p.Ser749fs) PMS2:c.2079_2082dup (p.Ser695fs) PMS2:c.2025_2028dup (p.Ser677fs) PMS2:c.1836_1839dup (p.Ser614fs) PMS2:c.1464_1467dup (p.Ser490fs) PMS2:c.1824_1827dup (p.Ser610fs) PMS2:c.2430_2433dup (p.Ser812fs) PMS2:c.2088_2091dup (p.Ser698fs) ATM:c.824del (p.Ser274_Leu275insTer) ATM:c.8988-1G>A ATM:c.640+20596C>T ATM:c.694+20596C>T PMS2:c.-79G>T PMS2:c.-269G>T PMS2:c.-748G>T PMS2:c.137G>T (p.Ser46Ile) PMS2:c.-348G>T PMS2:c.-52-1860G>T PMS2:c.-242-1860G>T PMS2:c.137G>T BRCA2:c.658_659del (p.Val220fs) BRCA1:c.-123_-122AG[1] BRCA1:c.-242_-241AG[1] BRCA1:c.68_69del (p.Glu23fs) BRCA1:c.-22AG[1] BRCA1:c.66_67AG[1] (p.Glu23Valfs) BRCA2:c.7069_7070del (p.Leu2357fs) PALB2:c.172_175del (p.Gln60fs) | Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer. European urology oncology:2020 | ||||||
CHEK2 gene | Pancreatic carcinoma Breast Carcinoma cancer | p.Ser428Phe | CHEK2:c.1283C>T CHEK2:c.1412C>T (p.Ser471Phe) CHEK2:c.620C>T (p.Ser207Phe) CHEK2:c.1082C>T (p.Ser361Phe) CHEK2:c.1283C>T (p.Ser428Phe) CHEK2:c.1196C>T (p.Ser399Phe) | missense mutation | Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant. Familial cancer:2022 |
Gene | Symptoms or Disease | Patient's Age | Patient's Sex | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|---|
BRCA2 gene BRCA1 gene APC gene | Breast Carcinoma Malignant neoplasm of ovary Adenomatous Polyposis Coli serous ovarian cancer breast and ovarian cancers hereditary breast and ovarian cancer | 45(year) | female | c.3756_3759delGTCT p.Glu1309Aspfs c.3927_3931delAAAGA | BRCA1:c.3538_3541TGTC[1] (p.Ser1182Argfs) BRCA1:c.3541_3544TGTC[1] (p.Ser1183Argfs) APC:c.3981_3985del (p.Glu1327AspfsTer4) APC:c.3957_3961del (p.Glu1319AspfsTer4) APC:c.3852_3856del (p.Glu1284AspfsTer4) APC:c.3843_3847del (p.Glu1281AspfsTer4) APC:c.3804_3808del (p.Glu1268AspfsTer4) APC:c.3750_3754del (p.Glu1250AspfsTer4) APC:c.3654_3658del (p.Glu1218AspfsTer4) APC:c.3624_3628del (p.Glu1208AspfsTer4) APC:c.3549_3553del (p.Glu1183AspfsTer4) APC:c.3447_3451del (p.Glu1149AspfsTer4) APC:c.3078_3082del (p.Glu1026AspfsTer4) APC:c.3624_3628del (p.Glu1208fs) APC:c.3549_3553del (p.Glu1183fs) APC:c.3447_3451del (p.Glu1149fs) APC:c.3078_3082del (p.Glu1026fs) APC:c.3927_3931del (p.Glu1309fs) APC:c.3873_3877del (p.Glu1291fs) APC:c.3981_3985del (p.Glu1327fs) APC:c.3957_3961del (p.Glu1319fs) APC:c.3852_3856del (p.Glu1284fs) | nucleaotide-sequencing | frameshift | Double mutation of APC and BRCA1 in an Italian family. Cancer genetics:2020 |
Gene | Symptoms or Disease | Total Cases | Variations from text | Variations from curated data | Molecular Consequences | Citation |
---|---|---|---|---|---|---|
BRCA2 gene BRCA1 gene APC gene | Breast Carcinoma Malignant neoplasm of ovary Adenomatous Polyposis Coli and ovarian cancer fap and ovarian cancer breast and ovarian cancers hereditary breast and ovarian cancer | 46 | c.3756_3759delGTCT p.Glu1309Aspfs c.3927_3931delAAAGA | BRCA1:c.3538_3541TGTC[1] (p.Ser1182Argfs) BRCA1:c.3541_3544TGTC[1] (p.Ser1183Argfs) APC:c.3981_3985del (p.Glu1327AspfsTer4) APC:c.3957_3961del (p.Glu1319AspfsTer4) APC:c.3852_3856del (p.Glu1284AspfsTer4) APC:c.3843_3847del (p.Glu1281AspfsTer4) APC:c.3804_3808del (p.Glu1268AspfsTer4) APC:c.3750_3754del (p.Glu1250AspfsTer4) APC:c.3654_3658del (p.Glu1218AspfsTer4) APC:c.3624_3628del (p.Glu1208AspfsTer4) APC:c.3549_3553del (p.Glu1183AspfsTer4) APC:c.3447_3451del (p.Glu1149AspfsTer4) APC:c.3078_3082del (p.Glu1026AspfsTer4) APC:c.3624_3628del (p.Glu1208fs) APC:c.3549_3553del (p.Glu1183fs) APC:c.3447_3451del (p.Glu1149fs) APC:c.3078_3082del (p.Glu1026fs) APC:c.3927_3931del (p.Glu1309fs) APC:c.3873_3877del (p.Glu1291fs) APC:c.3981_3985del (p.Glu1327fs) APC:c.3957_3961del (p.Glu1319fs) APC:c.3852_3856del (p.Glu1284fs) | frameshift | Double mutation of APC and BRCA1 in an Italian family. Cancer genetics:2020 |
Gene | Symptoms or Disease | Total Cases | Variations from text | Variations from curated data | Tech | Molecular Consequences | Citation |
---|---|---|---|---|---|---|---|
BRCA2 gene BRCA1 gene | cancer | BRCA1:c.3255_3256delTA (p.Lys1086Glufs) BRCA1:c.2871_2872delTA (p.Lys958Glufs) BRCA1:c.1155_1156delTA (p.Lys386Glufs) BRCA1:c.3759_3760delTA (p.Lys1254Glufs) BRCA1:c.3759_3760del (p.Lys1254fs) BRCA1:c.3618_3619del (p.Lys1207fs) BRCA1:c.788-740_788-739del BRCA2:c.3264dup BRCA2:c.3264dup (p.Gln1089fs) BRCA2:c.5631del (p.Asn1877fs) BRCA2:c.9235del (p.Val3079fs) BRCA2:c.9699_9702del (p.Cys3233fs) BRCA2:c.2224C>T (p.Gln742Ter) BRCA2:c.3575T>G (p.Phe1192Cys) BRCA2:c.5542del (p.Ser1848fs) BRCA2:c.6413T>A (p.Val2138Asp) BRCA2:c.2927_2929del (p.Ser976del) BRCA2:c.8377G>A (p.Gly2793Arg) BRCA2:c.7193C>G (p.Thr2398Ser) BRCA1:c.2897G>A (p.Arg966Gln) BRCA1:c.2261G>A (p.Arg754Gln) BRCA1:c.2258G>A (p.Arg753Gln) BRCA1:c.2195G>A (p.Arg732Gln) BRCA1:c.2192G>A (p.Arg731Gln) BRCA2:c.7556dup (p.Arg2520fs) BRCA2:c.428C>G (p.Pro143Arg) BRCA2:c.1574C>G (p.Thr525Ser) BRCA2:c.2635T>C (p.Ser879Pro) BRCA2:c.3640G>A (p.Val1214Met) BRCA2:c.6275_6276del (p.Leu2092fs) BRCA2:c.658_659del (p.Val220fs) BRCA1:c.-123_-122AG[1] BRCA1:c.-242_-241AG[1] BRCA1:c.68_69del (p.Glu23fs) BRCA1:c.-22AG[1] BRCA1:c.66_67AG[1] (p.Glu23Valfs) BRCA1:c.940C>T (p.Arg314Ter) BRCA1:c.937C>T (p.Arg313Ter) BRCA1:c.901C>T (p.Arg301Ter) BRCA1:c.898C>T (p.Arg300Ter) BRCA1:c.4327C>T BRCA2:c.7556dup (p.Arg2520SerfsTer19) | nucleaotide-sequencing | Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population. Human genomics:2019 | |||
BRCA2 gene BRCA1 gene | Breast Carcinoma Malignant neoplasm of ovary breast and/or ovarian cancer breast and/ | BRCA1:c.-22_-21AG[1] BRCA1:c.-195_-194AG[1] BRCA1:c.-192_-191AG[1] BRCA1:c.-123_-122AG[1] BRCA1:c.874C>T (p.Arg292Ter) BRCA1:c.871C>T (p.Arg291Ter) BRCA1:c.1015C>T (p.Arg339Ter) BRCA1:c.817C>T (p.Arg273Ter) BRCA1:c.814C>T (p.Arg272Ter) BRCA1:c.1819A>T (p.Lys607Ter) BRCA1:c.2049delC (p.Lys685Argfs) BRCA1:c.2286delC (p.Lys764Argfs) BRCA1:c.1926delC (p.Lys644Argfs) BRCA1:c.1542delC (p.Lys516Argfs) BRCA1:c.2430delC (p.Lys812Argfs) BRCA1:c.2433del (p.Lys812fs) BRCA1:c.2292del (p.Lys765fs) BRCA1:c.787+1646del BRCA1:c.416_417delTT (p.Ser140Lysfs) BRCA1:c.653_654delTT (p.Ser219Lysfs) BRCA1:c.293_294delTT (p.Ser99Lysfs) BRCA1:c.-92_-91delTT BRCA1:c.797_798delTT (p.Ser267Lysfs) BRCA1:c.798_799del (p.Ser267fs) BRCA1:c.657_658del (p.Ser220fs) BRCA1:c.787+11_787+12del BRCA2:c.8378G>A (p.Gly2793Glu) BRCA2:c.8486A>G (p.Gln2829Arg) BRCA2:c.8377G>A (p.Gly2793Arg) BRCA2:c.8487+1G>A BRCA1:c.2483C>A (p.Ser828Ter) BRCA1:c.2720C>A (p.Ser907Ter) BRCA1:c.2360C>A (p.Ser787Ter) BRCA1:c.1976C>A (p.Ser659Ter) BRCA1:c.2864C>A (p.Ser955Ter) BRCA1:c.2723C>A (p.Ser908Ter) BRCA1:c.788-1635C>A BRCA1:c.1601C>A (p.Ala534Glu) BRCA1:c.1598C>A (p.Ala533Glu) BRCA1:c.1574C>A (p.Ala525Glu) BRCA1:c.1568C>A (p.Ala523Glu) BRCA1:c.1546_1550delTGTGGinsAGTGA (p.Cys516_Gly517delinsSerAsp) BRCA1:c.1519_1523delTGTGGinsAGTGA (p.Cys507_Gly508delinsSerAsp) BRCA1:c.1123_1127delTGTGGinsAGTGA (p.Cys375_Gly376delinsSerAsp) BRCA1:c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) BRCA1:c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) BRCA1:c.5218_5222delinsAGTGA (p.Cys1740_Gly1741delinsSerAsp) BRCA1:c.2047_2051delinsAGTGA (p.Cys683_Gly684delinsSerAsp) BRCA1:c.2047_2051delTGTGGinsAGTGA (p.Cys683_Gly684delinsSerAsp) BRCA1:c.5422_5426delinsAGTGA (p.Cys1808_Gly1809delinsSerAsp) BRCA1:c.2021-1465_2021-1461delinsAGTGA BRCA2:c.8486A>C (p.Gln2829Pro) BRCA1:c.548_4185del | nucleaotide-sequencing | Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. Journal of clinical oncology : official journal of the American Society of Clinical Oncology:2013 | |||
BRCA2 gene BRCA1 gene | Malignant neoplasm of ovary Breast Carcinoma | 51 | c.2663-2664insA c.3857delT | BRCA2:c.8378G>A (p.Gly2793Glu) BRCA2:c.8486A>G (p.Gln2829Arg) BRCA2:c.10121C>T (p.Thr3374Ile) BRCA2:c.2435dup (p.Asn812fs) BRCA2:c.8377G>A (p.Gly2793Arg) BRCA2:c.8487+1G>A BRCA2:c.6877T>C (p.Phe2293Leu) BRCA2:c.9738C>T (p.Ala3246=) BRCA1:c.1864G>T (p.Asp622Tyr) BRCA1:c.2101G>T (p.Asp701Tyr) BRCA1:c.1741G>T (p.Asp581Tyr) BRCA1:c.1357G>T (p.Asp453Tyr) BRCA1:c.2245G>T (p.Asp749Tyr) BRCA1:c.2104G>T (p.Asp702Tyr) BRCA1:c.787+1458G>T BRCA1:c.3201delT (p.Asp1067Glufs) BRCA1:c.3204delT (p.Asp1068Glufs) BRCA1:c.3345delT (p.Asp1115Glufs) BRCA1:c.3342delT (p.Asp1114Glufs) BRCA1:c.3327delT (p.Asp1109Glufs) BRCA1:c.3324delT (p.Asp1108Glufs) BRCA2:c.1838T>G (p.Leu613Arg) BRCA2:c.8486A>C (p.Gln2829Pro) BRCA1:c.3468del (p.Asp1156GlufsTer4) BRCA1:c.3327del (p.Asp1109GlufsTer4) BRCA1:c.788-1031del (n.788-1031del) BRCA2:c.2435dup (p.Asn812LysfsTer15) BRCA1:c.3494delT (p.Gly1166Valfs) BRCA1:c.3110delT (p.Gly1038Valfs) BRCA1:c.1394delT (p.Gly466Valfs) BRCA1:c.3999del (p.Gly1334fs) BRCA1:c.3858del (p.Gly1287fs) BRCA1:c.788-500del | premature stop | BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Human mutation:2002 |
Gene | Symptoms or Disease | Total Cases | Zygosity | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|---|
MUTYH gene BRCA1 gene TP53 gene ATM gene CHEK2 gene PALB2 gene MSH6 gene MLH1 gene | Colorectal Carcinoma Breast Carcinoma inherited | 732 | c.1187G>A c.1437_1439delGGA c.884C>T c.592+3A>T | CHEK2:c.1046G>C CHEK2:c.917G>C CHEK2:c.917G>C (p.Gly306Ala) CHEK2:c.1046G>C (p.Gly349Ala) CHEK2:c.254G>C (p.Gly85Ala) CHEK2:c.716G>C (p.Gly239Ala) BRIP1:c.1255C>T (p.Arg419Trp) CHEK2:c.58C>T CHEK2:c.58C>T (p.Gln20Ter) CHEK2:c.-720C>T MSH2:c.775C>T MSH2:c.775C>T (p.Pro259Ser) MSH2:c.577C>T (p.Pro193Ser) RAD51C:c.577C>T RAD51C:c.577C>T (p.Arg193Ter) ATM:c.7592T>C (p.Met2531Thr) ATM:c.641-22449A>G ATM:c.*38+3700A>G ATM:c.*1317A>G CHEK2:c.1053G>T CHEK2:c.1182G>T (p.Glu394Asp) CHEK2:c.390G>T (p.Glu130Asp) CHEK2:c.852G>T (p.Glu284Asp) CHEK2:c.1053G>T (p.Glu351Asp) CHEK2:c.1009-1070G>T APC:c.6052A>G (p.Ser2018Gly) APC:c.6028A>G (p.Ser2010Gly) APC:c.5923A>G (p.Ser1975Gly) APC:c.5914A>G (p.Ser1972Gly) APC:c.5875A>G (p.Ser1959Gly) APC:c.5821A>G (p.Ser1941Gly) APC:c.5725A>G (p.Ser1909Gly) APC:c.5695A>G (p.Ser1899Gly) APC:c.5620A>G (p.Ser1874Gly) APC:c.5518A>G (p.Ser1840Gly) APC:c.5149A>G (p.Ser1717Gly) BARD1:c.1835A>T BARD1:c.1835A>T (p.Asp612Val) BARD1:c.1778A>T (p.Asp593Val) BARD1:c.482A>T (p.Asp161Val) BARD1:c.425A>T (p.Asp142Val) BARD1:c.365-14627A>T CDH1:c.2204C>T CDH1:c.2021C>T (p.Ala674Val) CDH1:c.656C>T (p.Ala219Val) CDH1:c.239C>T (p.Ala80Val) CDH1:c.2204C>T (p.Ala735Val) CHEK2:c.499G>A CHEK2:c.628G>A CHEK2:c.628G>A (p.Gly210Arg) CHEK2:c.-279G>A CHEK2:c.499G>A (p.Gly167Arg) CHEK2:c.445-147G>A ATM:c.5753G>C (p.Arg1918Thr) BARD1:c.2171C>T BARD1:c.2171C>T (p.Ala724Val) BARD1:c.2114C>T (p.Ala705Val) BARD1:c.818C>T (p.Ala273Val) BARD1:c.761C>T (p.Ala254Val) BARD1:c.632C>T (p.Ala211Val) MSH6:c.3787C>T (p.Arg1263Cys) MSH6:c.3397C>T (p.Arg1133Cys) MSH6:c.2881C>T (p.Arg961Cys) CHEK2:c.409C>T CHEK2:c.538C>T (p.Arg180Ter) CHEK2:c.-369C>T CHEK2:c.409C>T (p.Arg137Ter) BARD1:c.2137G>A BARD1:c.2137G>A (p.Val713Met) BARD1:c.2080G>A (p.Val694Met) BARD1:c.784G>A (p.Val262Met) BARD1:c.727G>A (p.Val243Met) BARD1:c.598G>A (p.Val200Met) MSH2:c.2015T>G (p.Met672Arg) MSH2:c.2015T>G MSH2:c.1817T>G (p.Met606Arg) ATM:c.4306C>T (p.His1436Tyr) ATM:c.7316T>C (p.Val2439Ala) ATM:c.641-21151A>G ATM:c.*38+4998A>G ATM:c.7375C>T (p.Arg2459Cys) ATM:c.641-21210G>A ATM:c.*38+4939G>A PALB2:c.2792T>G (p.Leu931Arg) CDH1:c.1348T>A CDH1:c.1165T>A (p.Tyr389Asn) CDH1:c.-201T>A CDH1:c.-472T>A CDH1:c.1348T>A (p.Tyr450Asn) CDH1:c.2359G>A CDH1:c.2176G>A (p.Val726Ile) CDH1:c.811G>A (p.Val271Ile) CDH1:c.394G>A (p.Val132Ile) CDH1:c.2359G>A (p.Val787Ile) RAD51C:c.635G>A RAD51C:c.635G>A (p.Arg212His) ATM:c.6503C>T (p.Ser2168Leu) ATM:c.641-12280G>A ATM:c.*39-12280G>A MLH1:c.1582T>C (p.Phe528Leu) MLH1:c.853T>C (p.Phe285Leu) MLH1:c.802T>C (p.Phe268Leu) MLH1:c.1876T>C (p.Phe626Leu) MLH1:c.1777T>C (p.Phe593Leu) MLH1:c.1732-854T>C BARD1:c.2189A>C BARD1:c.2189A>C (p.Gln730Pro) BARD1:c.2132A>C (p.Gln711Pro) BARD1:c.836A>C (p.Gln279Pro) BARD1:c.779A>C (p.Gln260Pro) BARD1:c.650A>C (p.Gln217Pro) BARD1:c.1350T>G BARD1:c.1350T>G (p.Asn450Lys) BARD1:c.1293T>G (p.Asn431Lys) BARD1:c.159-16722T>G BARD1:c.216-16722T>G BARD1:c.364+23020T>G ATM:c.4561G>C (p.Val1521Leu) PMS2:c.-162G>A PMS2:c.244G>A (p.Gly82Ser) PMS2:c.29G>A (p.Arg10Lys) PMS2:c.-641G>A PMS2:c.-241G>A PALB2:c.2612A>G (p.Asp871Gly) BARD1:c.1718T>C BARD1:c.1718T>C (p.Ile573Thr) BARD1:c.1661T>C (p.Ile554Thr) BARD1:c.365T>C (p.Ile122Thr) BARD1:c.308T>C (p.Ile103Thr) BARD1:c.365-15306T>C RAD50:c.2177G>A (p.Arg726His) RAD50:c.2177G>A RAD50:c.326_329delCAGA RAD50:c.326_329del (p.Thr109fs) ABRAXAS1:c.853C>T ABRAXAS1:c.526C>T (p.Arg176Trp) ABRAXAS1:c.853C>T (p.Arg285Trp) BRCA2:c.8844T>G (p.Ile2948Met) APC:c.7643G>A (p.Arg2548Gln) APC:c.7619G>A (p.Arg2540Gln) APC:c.7514G>A (p.Arg2505Gln) APC:c.7505G>A (p.Arg2502Gln) APC:c.7466G>A (p.Arg2489Gln) APC:c.7412G>A (p.Arg2471Gln) APC:c.7316G>A (p.Arg2439Gln) APC:c.7286G>A (p.Arg2429Gln) APC:c.7211G>A (p.Arg2404Gln) APC:c.7109G>A (p.Arg2370Gln) APC:c.6740G>A (p.Arg2247Gln) STK11:c.317G>A (p.Arg106Gln) CHEK2:c.157T>A CHEK2:c.157T>A (p.Ser53Thr) CHEK2:c.-621T>A BRIP1:c.2947del (p.Ile983fs) APC:c.6674C>T (p.Ser2225Leu) APC:c.6650C>T (p.Ser2217Leu) APC:c.6545C>T (p.Ser2182Leu) APC:c.6536C>T (p.Ser2179Leu) APC:c.6497C>T (p.Ser2166Leu) APC:c.6443C>T (p.Ser2148Leu) APC:c.6347C>T (p.Ser2116Leu) APC:c.6317C>T (p.Ser2106Leu) APC:c.6242C>T (p.Ser2081Leu) APC:c.6140C>T (p.Ser2047Leu) APC:c.5771C>T (p.Ser1924Leu) APC:c.4999A>G (p.Ile1667Val) APC:c.4975A>G (p.Ile1659Val) APC:c.4870A>G (p.Ile1624Val) APC:c.4861A>G (p.Ile1621Val) APC:c.4822A>G (p.Ile1608Val) APC:c.4768A>G (p.Ile1590Val) APC:c.4672A>G (p.Ile1558Val) APC:c.4642A>G (p.Ile1548Val) APC:c.4567A>G (p.Ile1523Val) APC:c.4465A>G (p.Ile1489Val) APC:c.4096A>G (p.Ile1366Val) CDH1:c.304G>A (p.Ala102Thr) CDH1:c.304G>A CDH1:c.-1312G>A CDH1:c.-1516G>A CHEK2:c.592+3A>T CHEK2:c.445-51A>T CHEK2:c.-186+3A>T CHEK2:c.721+3A>T NBN:c.966C>G (p.Tyr322Ter) NBN:c.720C>G (p.Tyr240Ter) APC:c.1757G>A (p.Ser586Asn) APC:c.1733G>A (p.Ser578Asn) APC:c.1628G>A (p.Ser543Asn) APC:c.1619G>A (p.Ser540Asn) APC:c.1580G>A (p.Ser527Asn) APC:c.1526G>A (p.Ser509Asn) APC:c.1430G>A (p.Ser477Asn) APC:c.1400G>A (p.Ser467Asn) APC:c.1325G>A (p.Ser442Asn) APC:c.1223G>A (p.Ser408Asn) APC:c.854G>A (p.Ser285Asn) NBN:c.966_967del NBN:c.720_721del (p.Tyr240_Cys241delinsTer) NBN:c.966_967del (p.Tyr322_Cys323delinsTer) NBN:c.720C>A (p.Tyr240Ter) NBN:c.966C>A (p.Tyr322Ter) ATM:c.115A>G (p.Thr39Ala) CDH1:c.1149G>C CDH1:c.-467G>C CDH1:c.-671G>C CDH1:c.1149G>C (p.Gln383His) CDH1:c.1137+1061G>C CHEK2:c.322T>A CHEK2:c.451T>A (p.Cys151Ser) CHEK2:c.-456T>A CHEK2:c.322T>A (p.Cys108Ser) APC:c.95A>G (p.Asn32Ser) APC:c.-941A>G APC:c.166-11341A>G APC:c.61-11341A>G APC:c.-42-11341A>G APC:c.95A>G BARD1:c.1216C>T BARD1:c.1216C>T (p.Arg406Ter) BARD1:c.1159C>T (p.Arg387Ter) BARD1:c.159-28103C>T BARD1:c.215+16403C>T BARD1:c.364+11639C>T MLH1:c.554A>G (p.Tyr185Cys) MLH1:c.848A>G (p.Tyr283Cys) MLH1:c.749A>G (p.Tyr250Cys) MLH1:c.-139-2747A>G MLH1:c.-37+3019A>G RAD51C:c.710G>A RAD51C:c.710G>A (p.Arg237Gln) ATM:c.1468A>G (p.Ile490Val) MSH2:c.727C>T (p.Arg243Trp) MSH2:c.529C>T (p.Arg177Trp) MSH2:c.727C>T APC:c.776G>A (p.Arg259Gln) APC:c.806G>A (p.Arg269Gln) APC:c.701G>A (p.Arg234Gln) APC:c.692G>A (p.Arg231Gln) APC:c.599G>A (p.Arg200Gln) APC:c.-260G>A CHEK2:c.736G>C CHEK2:c.865G>C (p.Val289Leu) CHEK2:c.73G>C (p.Val25Leu) CHEK2:c.535G>C (p.Val179Leu) CHEK2:c.736G>C (p.Val246Leu) CHEK2:c.1259+8A>G CHEK2:c.1172+8A>G CHEK2:c.1058+8A>G CHEK2:c.596+8A>G CHEK2:c.1388+8A>G PALB2:c.1704_1707del (p.Lys569fs) APC:c.5419G>C (p.Val1807Leu) APC:c.5395G>C (p.Val1799Leu) APC:c.5290G>C (p.Val1764Leu) APC:c.5281G>C (p.Val1761Leu) APC:c.5242G>C (p.Val1748Leu) APC:c.5188G>C (p.Val1730Leu) APC:c.5092G>C (p.Val1698Leu) APC:c.5062G>C (p.Val1688Leu) APC:c.4987G>C (p.Val1663Leu) APC:c.4885G>C (p.Val1629Leu) APC:c.4516G>C (p.Val1506Leu) BRCA2:c.8456A>T (p.Asp2819Val) STK11:c.54G>A (p.Met18Ile) MSH6:c.2686A>G (p.Lys896Glu) MSH6:c.2296A>G (p.Lys766Glu) MSH6:c.1780A>G (p.Lys594Glu) RAD50:c.3877_3879dup RAD50:c.3877_3879dup (p.Ile1293dup) RAD50:c.1580A>G RAD50:c.1580A>G (p.Gln527Arg) ATM:c.5828A>G (p.Lys1943Arg) ATM:c.641-1154T>C ATM:c.*39-1154T>C ATM:c.4030G>T (p.Val1344Leu) BRIP1:c.2055G>C BRIP1:c.2055G>C (p.Gln685His) XRCC2:c.185C>T XRCC2:c.185C>T (p.Thr62Ile) ATM:c.4343T>A ATM:c.4343T>A (p.Leu1448Ter) MLH1:c.-284A>T MLH1:c.-1043A>T MLH1:c.-1156A>T MLH1:c.-1065A>T MLH1:c.-826A>T MLH1:c.-724A>T MLH1:c.-821A>T MLH1:c.-1053A>T MLH1:c.1A>T (p.Met1Leu) BRCA2:c.4205A>G (p.Asn1402Ser) MSH2:c.942+3A>T MSH2:c.744+3A>T TP53:c.28G>A TP53:c.28G>A (p.Val10Ile) TP53:c.-207G>A TP53:c.-90G>A MLH1:c.1472C>T (p.Ala491Val) MLH1:c.743C>T (p.Ala248Val) MLH1:c.692C>T (p.Ala231Val) MLH1:c.1766C>T (p.Ala589Val) MLH1:c.1667C>T (p.Ala556Val) MLH1:c.1732-964C>T (n.1732-964C>T) BRCA1:c.5241del (p.Gly1748ValfsTer17) BRCA1:c.5100del (p.Gly1701ValfsTer17) BRCA1:c.1929del (p.Gly644ValfsTer17) BRCA1:c.5304del (p.Gly1769ValfsTer17) BRCA2:c.1013del (p.Ala338ValfsTer11) BRCA2:c.1507A>T (p.Lys503Ter) BRCA2:c.3451_3454del (p.Ile1151Ter) BRCA2:c.8395del (p.Arg2799AspfsTer22) BRCA2:c.8754+1G>T MUTYH:c.1103G>A (p.Gly368Asp) MUTYH:c.1187G>A (p.Gly396Asp) MUTYH:c.1148G>A (p.Gly383Asp) MUTYH:c.1136G>A (p.Gly379Asp) MUTYH:c.827G>A (p.Gly276Asp) MUTYH:c.758G>A (p.Gly253Asp) MUTYH:c.1178G>A (p.Gly393Asp) MUTYH:c.1187G>A APC:c.3974T>A (p.Ile1325Lys) APC:c.3950T>A (p.Ile1317Lys) APC:c.3845T>A (p.Ile1282Lys) APC:c.3836T>A (p.Ile1279Lys) APC:c.3797T>A (p.Ile1266Lys) APC:c.3743T>A (p.Ile1248Lys) APC:c.3647T>A (p.Ile1216Lys) APC:c.3617T>A (p.Ile1206Lys) APC:c.3542T>A (p.Ile1181Lys) APC:c.3440T>A (p.Ile1147Lys) APC:c.3071T>A (p.Ile1024Lys) RAD50:c.1663A>G RAD50:c.1663A>G (p.Ile555Val) BRCA2:c.8092G>A (p.Ala2698Thr) APC:c.53T>A (p.Met18Lys) APC:c.-983T>A APC:c.166-11383T>A APC:c.61-11383T>A APC:c.-42-11383T>A MUTYH:c.1174C>A (p.Leu392Met) MUTYH:c.1258C>A (p.Leu420Met) MUTYH:c.1219C>A (p.Leu407Met) MUTYH:c.1207C>A (p.Leu403Met) MUTYH:c.898C>A (p.Leu300Met) MUTYH:c.829C>A (p.Leu277Met) MUTYH:c.1249C>A (p.Leu417Met) BRCA2:c.1414C>T (p.Gln472Ter) BRCA2:c.4471_4474del (p.Leu1491fs) BRCA2:c.7655_7658del (p.Ile2552fs) BRCA2:c.8452G>A (p.Val2818Ile) BRCA1:c.3056G>A (p.Ser1019Asn) BRCA1:c.2672G>A (p.Ser891Asn) BRCA1:c.956G>A (p.Ser319Asn) BRCA1:c.3560G>A (p.Ser1187Asn) BRCA1:c.3419G>A (p.Ser1140Asn) BRCA1:c.788-939G>A BRCA1:c.1631G>A (p.Trp544Ter) BRCA1:c.1604G>A (p.Trp535Ter) BRCA1:c.1208G>A (p.Trp403Ter) BRCA1:c.5444G>A (p.Trp1815Ter) BRCA1:c.5303G>A (p.Trp1768Ter) BRCA1:c.2132G>A (p.Trp711Ter) BRCA1:c.2058G>A (p.Leu686_Asp687=) BRCA1:c.5507G>A (p.Trp1836Ter) BRCA1:c.2384C>G (p.Thr795Arg) BRCA1:c.2621C>G (p.Thr874Arg) BRCA1:c.2261C>G (p.Thr754Arg) BRCA1:c.1877C>G (p.Thr626Arg) BRCA1:c.2765C>G (p.Thr922Arg) BRCA1:c.2624C>G (p.Thr875Arg) BRCA1:c.788-1734C>G MSH6:c.1729C>T (p.Arg577Cys) MSH6:c.1339C>T (p.Arg447Cys) MSH6:c.823C>T (p.Arg275Cys) MSH6:c.3299C>T (p.Thr1100Met) MSH6:c.2909C>T (p.Thr970Met) MSH6:c.2393C>T (p.Thr798Met) MSH2:c.1045C>G MSH2:c.1045C>G (p.Pro349Ala) MSH2:c.847C>G (p.Pro283Ala) MSH2:c.1774A>G (p.Met592Val) MSH2:c.1576A>G (p.Met526Val) MSH2:c.1774A>G MSH2:c.1861C>T MSH2:c.1861C>T (p.Arg621Ter) MSH2:c.1663C>T (p.Arg555Ter) MSH2:c.942G>A MSH2:c.942G>A (p.Gln314=) MSH2:c.744G>A (p.Gln248=) PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.3428T>A (p.Leu1143His) ATM:c.2770C>T (p.Arg924Trp) MSH6:c.3260C>A (p.Pro1087His) MSH6:c.2870C>A (p.Pro957His) MSH6:c.2354C>A (p.Pro785His) MSH6:c.3727A>T (p.Thr1243Ser) MSH6:c.3337A>T (p.Thr1113Ser) MSH6:c.2821A>T (p.Thr941Ser) MLH1:c.1050G>T (p.Glu350Asp) MLH1:c.321G>T (p.Glu107Asp) MLH1:c.270G>T (p.Glu90Asp) MLH1:c.1344G>T (p.Glu448Asp) MLH1:c.1245G>T (p.Glu415Asp) PMS2:c.599A>G (p.Asn200Ser) PMS2:c.686A>G (p.Asn229Ser) PMS2:c.71A>G (p.Asn24Ser) PMS2:c.431A>G (p.Asn144Ser) PMS2:c.1004A>G (p.Asn335Ser) PMS2:c.695A>G (p.Asn232Ser) PMS2:c.583+2033A>G PMS2:c.988+2033A>G MRE11:c.1811G>A (p.Arg604His) MRE11:c.1808G>A (p.Arg603His) MRE11:c.1783+1353G>A CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.480A>G CHEK2:c.609A>G (p.Ile203Met) CHEK2:c.-298A>G CHEK2:c.480A>G (p.Ile160Met) CHEK2:c.444+154A>G MUTYH:c.800C>T (p.Pro267Leu) MUTYH:c.884C>T (p.Pro295Leu) MUTYH:c.845C>T (p.Pro282Leu) MUTYH:c.833C>T (p.Pro278Leu) MUTYH:c.524C>T (p.Pro175Leu) MUTYH:c.455C>T (p.Pro152Leu) MUTYH:c.875C>T (p.Pro292Leu) MUTYH:c.803C>T (p.Pro268Leu) MUTYH:c.842C>T (p.Ala281Val) MUTYH:c.839C>T (p.Ala280Val) MUTYH:c.884C>T (p.Ala295Val) MUTYH:c.872C>T (p.Ala291Val) MUTYH:c.563C>T (p.Ala188Val) MUTYH:c.494C>T (p.Ala165Val) MUTYH:c.914C>T (p.Ala305Val) BRCA1:c.1073G>A (p.Arg358His) BRCA1:c.953G>A (p.Arg318His) BRCA1:c.926G>A (p.Arg309His) BRCA1:c.4766G>A (p.Arg1589His) BRCA1:c.4625G>A (p.Arg1542His) BRCA1:c.1454G>A (p.Arg485His) BRCA1:c.4829G>A (p.Arg1610His) BRCA1:c.1016G>A (p.Arg339Gln) BRCA1:c.1253G>A (p.Arg418Gln) BRCA1:c.893G>A (p.Arg298Gln) BRCA1:c.509G>A (p.Arg170Gln) BRCA1:c.1397G>A (p.Arg466Gln) BRCA1:c.1256G>A (p.Arg419Gln) BRCA1:c.787+610G>A | multiplex ligation-dependent probe amplification | Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls. International journal of cancer:2021 | |
MSH2 gene BRIP1 gene TP53 gene ATM gene MUTYH gene CHEK2 gene PALB2 gene | Breast Carcinoma breast cancer syndrome | 188 | MLH1:c.1880G>A (p.Arg627His) MLH1:c.1151G>A (p.Arg384His) MLH1:c.1100G>A (p.Arg367His) MLH1:c.2081G>A (p.Arg694His) MLH1:c.2075G>A (p.Arg692His) MLH1:c.2009G>A (p.Arg670His) PALB2:c.3428T>A (p.Leu1143His) PALB2:c.2792T>G (p.Leu931Arg) PALB2:c.2612A>G (p.Asp871Gly) PALB2:c.3306C>G (p.Ser1102Arg) CHEK2:c.592+3A>T CHEK2:c.445-51A>T CHEK2:c.-186+3A>T CHEK2:c.721+3A>T ATM:c.3257G>A (p.Arg1086His) MLH1:c.554A>G (p.Tyr185Cys) MLH1:c.848A>G (p.Tyr283Cys) MLH1:c.749A>G (p.Tyr250Cys) MLH1:c.-139-2747A>G MLH1:c.-37+3019A>G BRIP1:c.139C>G (p.Pro47Ala) CDH1:c.2512A>G (p.Ser838Gly) CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) | Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer. Clinical breast cancer:2021 | |||
TP53 gene RAD51D gene RAD51C gene PALB2 gene NBN gene CHEK2 gene CDH1 gene ATM gene | Breast Carcinoma hereditary breast cancer | 5589 | heterozygous | NBN:c.628G>T (p.Val210Phe) NBN:c.382G>T (p.Val128Phe) ATM:c.4060C>A (p.Pro1354Thr) CHEK2:c.541C>T CHEK2:c.670C>T (p.Arg224Cys) CHEK2:c.-237C>T CHEK2:c.541C>T (p.Arg181Cys) CHEK2:c.445-105C>T CDH1:c.2512A>G CDH1:c.2329A>G (p.Ser777Gly) CDH1:c.964A>G (p.Ser322Gly) CDH1:c.547A>G (p.Ser183Gly) CDH1:c.2512A>G (p.Ser838Gly) TP53:c.644C>A (p.Ala215Asp) TP53:c.*147C>A TP53:c.*59C>A TP53:c.923C>A (p.Ala308Asp) TP53:c.563C>A (p.Ala188Asp) PALB2:c.1001A>G (p.Tyr334Cys) PALB2:c.1544A>G (p.Lys515Arg) PALB2:c.2752C>T (p.Pro918Ser) PALB2:c.2903C>G (p.Ala968Gly) PALB2:c.3251C>T (p.Ser1084Leu) PALB2:c.3428T>A (p.Leu1143His) CHEK2:c.1421G>A CHEK2:c.1550G>A (p.Arg517His) CHEK2:c.758G>A (p.Arg253His) CHEK2:c.1220G>A (p.Arg407His) CHEK2:c.1421G>A (p.Arg474His) CHEK2:c.1334G>A (p.Arg445His) ATM:c.1010G>A (p.Arg337His) ATM:c.1516G>T (p.Gly506Cys) ATM:c.1564_1565del (p.Glu522fs) ATM:c.2333A>G (p.Asn778Ser) ATM:c.2770C>T (p.Arg924Trp) ATM:c.4709T>C (p.Val1570Ala) ATM:c.5185G>C (p.Val1729Leu) ATM:c.5821G>C (p.Val1941Leu) ATM:c.641-1147C>G ATM:c.*39-1147C>G ATM:c.610G>A (p.Gly204Arg) ATM:c.7187C>G (p.Thr2396Ser) ATM:c.641-20047G>C ATM:c.*38+6102G>C NBN:c.1421T>A (p.Val474Glu) NBN:c.1667T>A (p.Val556Glu) NBN:c.1903A>T (p.Thr635Ser) NBN:c.2149A>T (p.Thr717Ser) NBN:c.259C>T (p.Arg87Cys) NBN:c.505C>T (p.Arg169Cys) NBN:c.595C>T (p.Pro199Ser) NBN:c.349C>T (p.Pro117Ser) CHEK2:c.1100delC CHEK2:c.1229del (p.Thr410fs) CHEK2:c.1229delC CHEK2:c.437del (p.Thr146fs) CHEK2:c.899del (p.Thr300fs) CHEK2:c.1100del (p.Thr367fs) CHEK2:c.1013del (p.Thr338fs) CHEK2:c.1525C>T CHEK2:c.1654C>T (p.Pro552Ser) CHEK2:c.862C>T (p.Pro288Ser) CHEK2:c.1324C>T (p.Pro442Ser) CHEK2:c.1525C>T (p.Pro509Ser) CHEK2:c.1438C>T (p.Pro480Ser) CHEK2:c.1685G>T (p.Arg562Leu) CHEK2:c.893G>T (p.Arg298Leu) CHEK2:c.1355G>T (p.Arg452Leu) CHEK2:c.1556G>T (p.Arg519Leu) CHEK2:c.1469G>T (p.Arg490Leu) CHEK2:c.1556G>T CHEK2:c.246_260delCCAAGAACCTGAGGA CHEK2:c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) CHEK2:c.-547CCAAGAACCTGAGGA[1] CHEK2:c.751A>T CHEK2:c.880A>T (p.Ile294Phe) CHEK2:c.88A>T (p.Ile30Phe) CHEK2:c.550A>T (p.Ile184Phe) CHEK2:c.751A>T (p.Ile251Phe) PALB2:c.194C>T (p.Pro65Leu) RAD51C:c.784T>G RAD51C:c.784T>G (p.Leu262Val) ATM:c.3630G>A (p.Met1210Ile) ATM:c.7919C>T (p.Thr2640Ile) ATM:c.641-23821G>A ATM:c.*38+2328G>A ATM:c.8071C>T (p.Arg2691Cys) ATM:c.641-25958G>A ATM:c.*38+191G>A ATM:c.8921C>T (p.Pro2974Leu) ATM:c.640+20768G>A ATM:c.694+20768G>A NBN:c.664T>C (p.Phe222Leu) NBN:c.418T>C (p.Phe140Leu) ATM:c.7592T>C (p.Met2531Thr) ATM:c.641-22449A>G ATM:c.*38+3700A>G ATM:c.*1317A>G NBN:c.1925A>G (p.Lys642Arg) NBN:c.1679A>G (p.Lys560Arg) CHEK2:c.434G>A CHEK2:c.563G>A (p.Arg188Gln) CHEK2:c.-344G>A CHEK2:c.434G>A (p.Arg145Gln) NBN:c.671G>A (p.Gly224Glu) NBN:c.425G>A (p.Gly142Glu) RAD51D:c.796C>T (p.Arg266Cys) RAD51D:c.856C>T (p.Arg286Cys) RAD51D:c.460C>T (p.Arg154Cys) PALB2:c.1037_1041del (p.Lys346fs) RAD51D:c.196G>A (p.Val66Met) RAD51D:c.144+543G>A ATM:c.7618G>A (p.Val2540Ile) ATM:c.*1291C>T ATM:c.641-22475C>T ATM:c.*38+3674C>T CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.7328G>A (p.Arg2443Gln) ATM:c.641-21163C>T ATM:c.*38+4986C>T ATM:c.670A>G (p.Lys224Glu) NBN:c.803C>T (p.Thr268Met) NBN:c.557C>T (p.Thr186Met) ATM:c.3832G>A (p.Asp1278Asn) ATM:c.4724G>A (p.Arg1575His) ATM:c.6257A>T (p.Tyr2086Phe) ATM:c.641-8360T>A ATM:c.*39-8360T>A ATM:c.8428A>C (p.Lys2810Gln) ATM:c.641-36681T>G ATM:c.695-10460T>G PALB2:c.2106A>G (p.Ile702Met) PALB2:c.37G>A (p.Glu13Lys) RAD51D:c.845C>T (p.Pro282Leu) RAD51D:c.785C>T (p.Pro262Leu) RAD51D:c.449C>T (p.Pro150Leu) RAD51C:c.224dup (p.Tyr75Ter) RAD51C:c.224dupA RAD51C:c.224_225insA CHEK2:c.1039G>A CHEK2:c.1168G>A (p.Asp390Asn) CHEK2:c.376G>A (p.Asp126Asn) CHEK2:c.838G>A (p.Asp280Asn) CHEK2:c.1039G>A (p.Asp347Asn) CHEK2:c.1009-1084G>A CHEK2:c.1037G>A CHEK2:c.1166G>A (p.Arg389His) CHEK2:c.374G>A (p.Arg125His) CHEK2:c.836G>A (p.Arg279His) CHEK2:c.1037G>A (p.Arg346His) CHEK2:c.1009-1086G>A NBN:c.506G>A (p.Arg169His) NBN:c.260G>A (p.Arg87His) ATM:c.5938G>A (p.Gly1980Arg) ATM:c.641-3359C>T ATM:c.*39-3359C>T ATM:c.6860G>A (p.Gly2287Glu) ATM:c.641-17039C>T ATM:c.*38+9110C>T ATM:c.7375C>T (p.Arg2459Cys) ATM:c.641-21210G>A ATM:c.*38+4939G>A ATM:c.7463G>A (p.Cys2488Tyr) ATM:c.641-21298C>T ATM:c.*38+4851C>T PALB2:c.2792T>G (p.Leu931Arg) PALB2:c.1097A>G (p.Asn366Ser) PALB2:c.109C>A (p.Arg37Ser) PALB2:c.100C>T (p.Arg34Cys) TP53:c.-104dup TP53:c.259-2dup TP53:c.376-2dup CHEK2:c.1091T>C CHEK2:c.1220T>C (p.Ile407Thr) CHEK2:c.428T>C (p.Ile143Thr) CHEK2:c.890T>C (p.Ile297Thr) CHEK2:c.1091T>C (p.Ile364Thr) CHEK2:c.1009-1032T>C ATM:c.902G>A (p.Gly301Asp) NBN:c.211_212insGA (p.Asn71fs) NBN:c.-36_-35insGA ATM:c.1943T>C (p.Val648Ala) PALB2:c.2470dup (p.Cys824fs) PALB2:c.3073G>A (p.Ala1025Thr) NBN:c.1659G>A (p.Met553Ile) NBN:c.1413G>A (p.Met471Ile) NBN:c.1651dup (p.Arg551fs) NBN:c.1405dup (p.Arg469fs) NBN:c.1417C>A (p.Gln473Lys) NBN:c.1171C>A (p.Gln391Lys) ATM:c.200A>G (p.Tyr67Cys) ATM:c.3078G>T (p.Trp1026Cys) ATM:c.5263A>G (p.Met1755Val) ATM:c.8015A>C (p.Asp2672Ala) ATM:c.641-25902T>G ATM:c.*38+247T>G ATM:c.9019G>T (p.Glu3007Ter) ATM:c.640+20564C>A ATM:c.694+20564C>A PALB2:c.3494C>T (p.Ser1165Leu) PALB2:c.2325A>C (p.Gln775His) PALB2:c.1704A>C (p.Gln568His) RAD51C:c.397C>A RAD51C:c.397C>A (p.Gln133Lys) ATM:c.6914_6915AG[1] (p.Leu2307Cysfs) ATM:c.6916_6917del (p.Leu2307fs) ATM:c.641-17094_641-17093del ATM:c.*38+9055_*38+9056del ATM:c.3852del ATM:c.3852del (p.Asp1285fs) PALB2:c.13C>T (p.Pro5Ser) ATM:c.6998C>A (p.Thr2333Lys) ATM:c.641-18596G>T ATM:c.*38+7553G>T ATM:c.8895G>C (p.Leu2965Phe) ATM:c.640+20794C>G ATM:c.694+20794C>G CHEK2:c.1556G>A CHEK2:c.1685G>A (p.Arg562Gln) CHEK2:c.893G>A (p.Arg298Gln) CHEK2:c.1355G>A (p.Arg452Gln) CHEK2:c.1556G>A (p.Arg519Gln) CHEK2:c.1469G>A (p.Arg490Gln) PALB2:c.1128T>G (p.Ser376Arg) ATM:c.2158C>T (p.Arg720Cys) ATM:c.4873A>G (p.Lys1625Glu) PALB2:c.1424dup (p.Arg476fs) RAD51D:c.202G>A (p.Gly68Ser) RAD51D:c.144+549G>A RAD51D:c.689C>A (p.Ala230Glu) RAD51D:c.629C>A (p.Ala210Glu) RAD51D:c.293C>A (p.Ala98Glu) TP53:c.404G>C (p.Arg135Pro) TP53:c.683G>C (p.Arg228Pro) TP53:c.323G>C (p.Arg108Pro) CHEK2:c.14C>T CHEK2:c.14C>T (p.Ser5Leu) CHEK2:c.-764C>T CDH1:c.1468G>A CDH1:c.1285G>A (p.Glu429Lys) CDH1:c.-81G>A CDH1:c.-352G>A CDH1:c.1468G>A (p.Glu490Lys) ATM:c.4237G>A (p.Asp1413Asn) ATM:c.8150A>G (p.Lys2717Arg) ATM:c.641-26037T>C ATM:c.*38+112T>C ATM:c.5319+2T>C RAD51D:c.80C>T (p.Thr27Ile) CDH1:c.1568A>G CDH1:c.1385A>G (p.Tyr462Cys) CDH1:c.20A>G (p.Tyr7Cys) CDH1:c.1568A>G (p.Tyr523Cys) CDH1:c.-254-2719A>G NBN:c.119C>T (p.Ser40Leu) NBN:c.-178C>T CDH1:c.2336G>A CDH1:c.2153G>A (p.Arg718Gln) CDH1:c.788G>A (p.Arg263Gln) CDH1:c.371G>A (p.Arg124Gln) CDH1:c.2336G>A (p.Arg779Gln) CDH1:c.344C>T CDH1:c.344C>T (p.Thr115Met) CDH1:c.-1272C>T CDH1:c.-1476C>T CDH1:c.1988A>G CDH1:c.1805A>G (p.Tyr602Cys) CDH1:c.440A>G (p.Tyr147Cys) CDH1:c.23A>G (p.Tyr8Cys) CDH1:c.1988A>G (p.Tyr663Cys) CHEK2:c.307T>C CHEK2:c.307T>C (p.Phe103Leu) CHEK2:c.-471T>C PALB2:c.1748T>G (p.Leu583Trp) CHEK2:c.1510A>G (p.Thr504Ala) CHEK2:c.1597A>G CHEK2:c.1726A>G (p.Thr576Ala) CHEK2:c.934A>G (p.Thr312Ala) CHEK2:c.1396A>G (p.Thr466Ala) CHEK2:c.1597A>G (p.Thr533Ala) ATM:c.2836A>G (p.Met946Val) ATM:c.737A>G (p.Asn246Ser) PALB2:c.18G>T (p.Gly6=) CHEK2:c.592+3A>T CHEK2:c.445-51A>T CHEK2:c.-186+3A>T CHEK2:c.721+3A>T CHEK2:c.1282T>C CHEK2:c.1153T>C CHEK2:c.1282T>C (p.Cys428Arg) CHEK2:c.490T>C (p.Cys164Arg) CHEK2:c.952T>C (p.Cys318Arg) CHEK2:c.1153T>C (p.Cys385Arg) CHEK2:c.1066T>C (p.Cys356Arg) PALB2:c.1448C>T (p.Ser483Leu) TP53:c.*146G>A TP53:c.*58G>A TP53:c.922G>A (p.Ala308Thr) TP53:c.562G>A (p.Ala188Thr) TP53:c.1039G>A (p.Ala347Thr) PALB2:c.2736G>A PALB2:c.2736G>A (p.Trp912Ter) ATM:c.2423C>T ATM:c.2423C>T (p.Thr808Ile) NBN:c.2029G>A (p.Asp677Asn) NBN:c.1783G>A (p.Asp595Asn) NBN:c.596C>G (p.Pro199Arg) NBN:c.350C>G (p.Pro117Arg) ATM:c.322G>A (p.Ala108Thr) ATM:c.6604T>G (p.Tyr2202Asp) ATM:c.641-16270A>C ATM:c.*38+9879A>C ATM:c.8228C>T (p.Thr2743Met) ATM:c.641-26850G>A ATM:c.695-629G>A ATM:c.9166G>T (p.Val3056Leu) ATM:c.640+20417C>A ATM:c.694+20417C>A CHEK2:c.322T>C CHEK2:c.451T>C (p.Cys151Arg) CHEK2:c.-456T>C CHEK2:c.322T>C (p.Cys108Arg) ATM:c.7568T>G (p.Leu2523Trp) ATM:c.*1341A>C ATM:c.641-22425A>C ATM:c.*38+3724A>C ATM:c.2519A>T (p.Asp840Val) ATM:c.6983C>T (p.Pro2328Leu) ATM:c.641-18581G>A ATM:c.*38+7568G>A ATM:c.7865C>G (p.Ala2622Gly) ATM:c.641-23767G>C ATM:c.*38+2382G>C ATM:c.8938C>A (p.Leu2980Ile) ATM:c.640+20751G>T ATM:c.694+20751G>T CDH1:c.1766A>G CDH1:c.1583A>G (p.Asn528Ser) CDH1:c.218A>G (p.Asn73Ser) CDH1:c.-200A>G CDH1:c.1766A>G (p.Asn589Ser) TP53:c.289T>G (p.Cys97Gly) TP53:c.568T>G (p.Cys190Gly) TP53:c.208T>G (p.Cys70Gly) NBN:c.1919A>G (p.Asn640Ser) NBN:c.1673A>G (p.Asn558Ser) ATM:c.7235A>G (p.Asn2412Ser) ATM:c.641-20095T>C ATM:c.*38+6054T>C RAD51C:c.613C>A (p.Leu205Ile) RAD51C:c.706-1G>A RAD51C:c.862del (p.Thr288fs) RAD51C:c.621T>A RAD51C:c.621T>A (p.His207Gln) CDH1:c.939C>G CDH1:c.939C>G (p.Asp313Glu) CDH1:c.-677C>G CDH1:c.-881C>G CDH1:c.2368A>G CDH1:c.2185A>G (p.Thr729Ala) CDH1:c.820A>G (p.Thr274Ala) CDH1:c.403A>G (p.Thr135Ala) CDH1:c.2368A>G (p.Thr790Ala) PALB2:c.3331C>G (p.Pro1111Ala) CHEK2:c.1033C>T CHEK2:c.1162C>T (p.His388Tyr) CHEK2:c.370C>T (p.His124Tyr) CHEK2:c.832C>T (p.His278Tyr) CHEK2:c.1033C>T (p.His345Tyr) CHEK2:c.1009-1090C>T CHEK2:c.1399_1401delTTG CHEK2:c.1525TTG[1] (p.Leu510del) CHEK2:c.733TTG[1] (p.Leu246del) CHEK2:c.1195TTG[1] (p.Leu400del) CHEK2:c.1396TTG[1] (p.Leu467del) CHEK2:c.1309TTG[1] (p.Leu438del) CHEK2:c.1546_1557del (p.Ala516_Thr519del) CHEK2:c.754_765del (p.Ala252_Thr255del) CHEK2:c.1216_1227del (p.Ala406_Thr409del) CHEK2:c.1417_1428del (p.Ala473_Thr476del) CHEK2:c.1330_1341del (p.Ala444_Thr447del) CHEK2:c.1417_1428del12 RAD51C:c.520A>G RAD51C:c.520A>G (p.Thr174Ala) ATM:c.3565C>T (p.Leu1189Phe) PALB2:c.2750T>C (p.Val917Ala) PALB2:c.229T>C (p.Cys77Arg) CDH1:c.2356G>A CDH1:c.2173G>A (p.Asp725Asn) CDH1:c.808G>A (p.Asp270Asn) CDH1:c.391G>A (p.Asp131Asn) CDH1:c.2356G>A (p.Asp786Asn) CHEK2:c.1408G>C CHEK2:c.1537G>C (p.Asp513His) CHEK2:c.745G>C (p.Asp249His) CHEK2:c.1207G>C (p.Asp403His) CHEK2:c.1408G>C (p.Asp470His) CHEK2:c.1321G>C (p.Asp441His) ATM:c.5262G>T (p.Lys1754Asn) NBN:c.1622C>G (p.Ala541Gly) NBN:c.1376C>G (p.Ala459Gly) CHEK2:c.695G>A CHEK2:c.824G>A (p.Gly275Glu) CHEK2:c.32G>A (p.Gly11Glu) CHEK2:c.494G>A (p.Gly165Glu) CHEK2:c.695G>A (p.Gly232Glu) TP53:c.286_288delTCT TP53:c.283TCT[1] (p.Ser96del) TP53:c.166TCT[1] (p.Ser57del) CDH1:c.2033T>C CDH1:c.1850T>C (p.Val617Ala) CDH1:c.485T>C (p.Val162Ala) CDH1:c.68T>C (p.Val23Ala) CDH1:c.2033T>C (p.Val678Ala) ATM:c.4631A>G (p.Tyr1544Cys) ATM:c.5237G>T (p.Gly1746Val) CHEK2:c.1591G>T CHEK2:c.1720G>T (p.Glu574Ter) CHEK2:c.928G>T (p.Glu310Ter) CHEK2:c.1390G>T (p.Glu464Ter) CHEK2:c.1591G>T (p.Glu531Ter) CHEK2:c.1504G>T (p.Glu502Ter) CDH1:c.261G>C CDH1:c.261G>C (p.Arg87Ser) CDH1:c.-1355G>C CDH1:c.-1559G>C RAD51D:c.959G>A (p.Arg320Gln) RAD51D:c.899G>A (p.Arg300Gln) RAD51D:c.563G>A (p.Arg188Gln) ATM:c.8098A>T (p.Lys2700Ter) ATM:c.641-25985T>A ATM:c.*38+164T>A ATM:c.5319+1G>T NBN:c.350C>T (p.Ser117Phe) NBN:c.104C>T (p.Ser35Phe) ATM:c.8806G>C (p.Glu2936Gln) ATM:c.640+31090C>G ATM:c.695-19538C>G ATM:c.2662G>C (p.Glu888Gln) ATM:c.8314G>A (p.Gly2772Arg) ATM:c.641-34196C>T ATM:c.695-7975C>T CDH1:c.781G>A CDH1:c.781G>A (p.Glu261Lys) CDH1:c.-835G>A CDH1:c.-1039G>A RAD51D:c.758G>A (p.Arg253Gln) RAD51D:c.818G>A (p.Arg273Gln) RAD51D:c.422G>A (p.Arg141Gln) ATM:c.3403-3A>C PALB2:c.839del (p.Asn280fs) NBN:c.2201C>T (p.Ala734Val) NBN:c.1955C>T (p.Ala652Val) PALB2:c.481G>C (p.Asp161His) RAD51C:c.193A>G RAD51C:c.193A>G (p.Arg65Gly) CHEK2:c.1382A>G CHEK2:c.1511A>G (p.Asp504Gly) CHEK2:c.719A>G (p.Asp240Gly) CHEK2:c.1181A>G (p.Asp394Gly) CHEK2:c.1382A>G (p.Asp461Gly) CHEK2:c.1295A>G (p.Asp432Gly) CDH1:c.1103C>G CDH1:c.1103C>G (p.Thr368Ser) CDH1:c.-513C>G CDH1:c.-717C>G ATM:c.5476T>G (p.Leu1826Val) ATM:c.6215G>C (p.Gly2072Ala) ATM:c.641-8318C>G ATM:c.*39-8318C>G PALB2:c.1292G>A (p.Ser431Asn) ATM:c.3709A>T (p.Ile1237Phe) PALB2:c.3433G>T (p.Gly1145Cys) PALB2:c.1919C>G (p.Ser640Ter) NBN:c.343G>A (p.Ala115Thr) NBN:c.97G>A (p.Ala33Thr) RAD51D:c.1031A>T (p.Gln344Leu) RAD51D:c.971A>T (p.Gln324Leu) RAD51D:c.635A>T (p.Gln212Leu) RAD51D:c.167T>G (p.Val56Gly) RAD51D:c.144+514T>G RAD51C:c.65C>T (p.Ala22Val) RAD51C:c.308T>A (p.Phe103Tyr) RAD51C:c.388G>A (p.Gly130Arg) RAD51D:c.26G>C (p.Cys9Ser) | Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer medicine:2018 | ||
CHEK2 gene ATM gene | Carcinoma Breast Carcinoma | 1185 | CHEK2:c.190G>A CHEK2:c.190G>A (p.Glu64Lys) CHEK2:c.-588G>A CHEK2:c.1298A>C CHEK2:c.1169A>C CHEK2:c.1298A>C (p.Tyr433Ser) CHEK2:c.506A>C (p.Tyr169Ser) CHEK2:c.968A>C (p.Tyr323Ser) CHEK2:c.1169A>C (p.Tyr390Ser) CHEK2:c.1082A>C (p.Tyr361Ser) ATM:c.6154G>A (p.Glu2052Lys) ATM:c.641-6998C>T ATM:c.*39-6998C>T CHEK2:c.549G>C CHEK2:c.678G>C (p.Leu226Phe) CHEK2:c.-229G>C CHEK2:c.549G>C (p.Leu183Phe) CHEK2:c.445-97G>C CHEK2:c.592+3A>T CHEK2:c.445-51A>T CHEK2:c.-186+3A>T CHEK2:c.721+3A>T | Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers. Genes:2021 |
Gene | Symptoms or Disease | Total Cases | Variations from text | Variations from curated data | Tech | Citation |
---|---|---|---|---|---|---|
TP53 gene | Adrenocortical carcinoma Sarcoma Malignant neoplasm of brain Breast Carcinoma breast adenocarcinoma li-fraumeni-like ( li-fraumeni adrenocortical tumours | 45 | c.IVS6+1G>T p.Gly244Asp p.Val197Met p.Val173Met p.Arg337His | TP53:c.335G>A (p.Gly112Asp) TP53:c.614G>A (p.Gly205Asp) TP53:c.254G>A (p.Gly85Asp) TP53:c.731G>A (p.Gly244Asp) TP53:c.193G>A (p.Val65Met) TP53:c.472G>A (p.Val158Met) TP53:c.112G>A (p.Val38Met) TP53:c.121G>A (p.Val41Met) TP53:c.400G>A (p.Val134Met) TP53:c.40G>A (p.Val14Met) TP53:c.614G>A (p.Arg205His) TP53:c.*117G>A TP53:c.*29G>A TP53:c.893G>A (p.Arg298His) TP53:c.533G>A (p.Arg178His) | The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer letters:2007 | |
TERF1 gene TP53 gene | Nephroblastoma anaplasia diffuse anaplasia | 46 | c.IVS2+37C>T p.Arg337Cys p.Arg248Trp p.Arg213Gln p.Val197Met | TP53:c.346C>T (p.Arg116Trp) TP53:c.625C>T (p.Arg209Trp) TP53:c.265C>T (p.Arg89Trp) TP53:c.613C>T (p.Arg205Cys) TP53:c.*116C>T TP53:c.*28C>T TP53:c.892C>T (p.Arg298Cys) TP53:c.532C>T (p.Arg178Cys) TP53:c.242G>A (p.Arg81Gln) TP53:c.521G>A (p.Arg174Gln) TP53:c.161G>A (p.Arg54Gln) TP53:c.193G>A (p.Val65Met) TP53:c.472G>A (p.Val158Met) TP53:c.112G>A (p.Val38Met) | nucleaotide-sequencing | Association of TP53 polymorphisms on the risk of Wilms tumor. Pediatric blood & cancer:2014 |
The results showed that the Nucleati Germline Cancer Evidence Base provided at least one piece of evidence for 23 out of 35 genetic variants reported in 16 abstracts. This finding suggests that the database is a valuable resource for clinicians and researchers seeking information on genetic variants associated with hereditary cancer.
The median number of articles available for each variant in the Germline Cancer Evidence Base was 3, with a range of 0 to 163 articles. This wide range indicates that the variable frequency with which variant reported in the literatures. It also shows the extent of data available in the Nucleati Germline Cancer Evidence Base.
Among the variants with available evidence in the database, 16 had at least one case report article, providing information on the clinical characteristics and outcomes of individual patients with the variant. Additionally, 24 had at least one case series article, describing the clinical characteristics and outcomes of a group of patients with the variant. Finally, 5 had at least one GWAS article, which examined the association between the variant and the risk of developing cancer in large populations.
In summary, the study demonstrated the usefulness of the Nucleati Germline Cancer Evidence Base as a valuable resource for clinicians and researchers seeking information on genetic variants associated with cancer. The database provides information on the clinical characteristics and outcomes of patients with the variants and their association with the risk of developing cancer, making it an essential tool for advancing cancer research and treatment.