Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 GermlineCausalMutation disease ORPHANET Novel MSH2 Mutation in the First Report of a Vietnamese-American Kindred with Lynch Syndrome. 26076155 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CTD_human Germ line hemiallelic methylations of MLH1 or MSH2 are termed as epimutations and have been identified as causative of Lynch syndrome. 25701956 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CLINGEN Cancer risks for MLH1 and MSH2 mutation carriers. 23255516 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 GermlineCausalMutation disease ORPHANET Current evidence suggests that colorectal tumors from LS patients tend to have better prognoses than their sporadic counterparts, however survival benefits for other cancers encountered in LS are unclear.In this article we describe a family with a novel protein truncating mutation of c.2388delT in the MSH2 gene, particularly focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on. 22234272 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CLINGEN Inherited deleterious mutations in mismatch repair genes MLH1, MSH2, and MSH6 predispose to hereditary nonpolyposis colorectal cancer. 17101317 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CTD_human A majority of HNPCC families has identifiable mutations in hMLH1 and hMSH2. 12702580 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CLINGEN Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. 8706033 1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
1.000 Biomarker disease CLINGEN Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993