Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | CausalMutation | CLINVAR | Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | 24728327 | 2014 |
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T | 0.800 | CausalMutation | CLINVAR | Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. | 24444654 | 2014 |
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T | 0.800 | CausalMutation | CLINVAR | MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. | 23361220 | 2014 |
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T | 0.800 | CausalMutation | CLINVAR | Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. | 23805267 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | Personalized genomic disease risk of volunteers. | 24082139 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. | 23108399 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | Colorectal cancer in a monoallelic MYH mutation carrier. | 23625202 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. | 22744763 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. | 22158503 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | 22703879 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. | 22926731 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | MutYH mutation carriers have increased breast cancer risk. | 21952991 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | MUTYH gene expression and alternative splicing in controls and polyposis patients. | 22473953 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. | 21171015 | 2011 |
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T | 0.800 | CausalMutation | CLINVAR | Biallelic MYH germline mutations as cause of Muir-Torre syndrome. | 19998059 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. | 20848659 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. | 21063410 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. | 19953527 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. | 21178863 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. | 20418187 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. | 19836313 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. | 19032956 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. | 19793053 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. | 19394335 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |