| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. | 24278394 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Hereditary prostate cancer as a feature of Lynch syndrome. | 20872076 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. | 20215533 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. | 20587412 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. | 19698169 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Breast cancer in an MSH2 gene mutation carrier. | 16311127 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 |
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|
C | 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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|
C | 0.700 | CausalMutation | CLINVAR | hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. | 15655560 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. | 11920650 | 2002 |