Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 28176205

2017

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. 29212164

2017

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503

2014

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490

2013

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549

2012

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. 16885385

2006

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168

2004

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. 15098177

2004

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016

2004

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731

2003