Source: ALL
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 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 Cancer risks for MLH1 and MSH2 mutation carriers. 23255516 2013
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 CLINGEN Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 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: 5395
Gene Symbol: PMS2
PMS2 		0.800 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 		0.800 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: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265 1995
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 Biomarker disease CLINGEN In contrast, the third amino-terminal mutation S93G did not affect the heterodimerization, and the MLH1(S93G)/PMS2 variant was functional in the in vitro MMR assay, given thus the nature of the HNPCC family in question. 11793442 2002
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 Biomarker disease CLINGEN Half of hereditary nonpolyposis colon cancer kindreds harbor mutations that inactivate MutLalpha (MLH1*PMS2 heterodimer). 16873062 2006
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN Four presumably causative MSH6 mutations were detected in the patients (22%) who had suspected HNPCC and MSI-low tumors. 10521294 1999
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474 2001
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 Biomarker disease CLINGEN Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 8072530 1994
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN Six of the families that we studied fulfilled the original Amsterdam criteria; most families with MSH6, however, were only suspected to have HNPCC. 11709755 2002
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 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: 5395
Gene Symbol: PMS2
PMS2 		0.800 Biomarker disease CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 Biomarker disease CLINGEN Mutations in the PMS2 gene can, like mutations in other mismatch repair genes, cause both autosomal dominant HNPCC in adults and an autosomal recessive cancer syndrome in children. 15887124 2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.800 Biomarker disease CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264 1995
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.800 Biomarker disease CLINGEN This may explain the rarity of MSH6 and absence of MSH3 germline mutations in HNPCC families. 10545954 1999
Entrez Id: 27030
Gene Symbol: MLH3
MLH3 		0.700 Biomarker disease CLINGEN Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC. 17203173 2007