| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. | 26895986 | 2016 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). | 15872200 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. | 15955785 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | 15849733 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. | 12658575 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. | 11524701 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. | 8797773 | 1996 |
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|
C | 0.700 | GeneticVariation | CLINVAR |