Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 Biomarker disease CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CTD_human Lynch syndrome is primarily caused by mutations in the MMR genes, mainly MLH1 and MSH2, and less frequently in MSH6, and rarely PMS2, and large genomic rearrangements account for 5-20 % of all mutations. 25701956 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 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: 2956
Gene Symbol: MSH6
MSH6 		0.700 Biomarker disease CTD_human Lynch syndrome is primarily caused by mutations in the MMR genes, mainly MLH1 and MSH2, and less frequently in MSH6, and rarely PMS2, and large genomic rearrangements account for 5-20 % of all mutations. 25701956 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 Biomarker disease CLINGEN Cancer risks for MLH1 and MSH2 mutation carriers. 23255516 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 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: 2956
Gene Symbol: MSH6
MSH6 		0.700 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: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer. 22494821 2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. 18602922 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.700 Biomarker disease CTD_human Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis. 18417481 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.700 Biomarker disease CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN Endonucleolytic function of MutLalpha in human mismatch repair. 16873062 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable. 16619239 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 Biomarker disease CLINGEN Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CTD_human Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124 2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124 2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CLINGEN Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer. 15872200 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.700 Biomarker disease CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 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 		0.700 Biomarker disease CTD_human The role of hMLH3 in familial colorectal cancer. 12702580 2003