| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). | 24310308 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. | 22883484 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. | 21681552 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. | 20682701 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. | 19419416 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. | 16395668 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene. | 15222003 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Recurrent germline mutation in MSH2 arises frequently de novo. | 10978353 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. | 8062247 | 1994 |