Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. 27013479

2016
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Mutation spectrum in South American Lynch syndrome families. 24344984

2013
dbSNP: rs63749932
rs63749932
MSH2
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: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002

2011
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. 20215533

2010
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Germ-line mutations in mismatch repair genes associated with prostate cancer. 19723918

2009
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR The frequency of Muir-Torre syndrome among Lynch syndrome families. 18270343

2008
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer. 15926618

2005
dbSNP: rs63749932
rs63749932
MSH2
T 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
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. 12547705

2003
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. 12414824

2002
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 12112654

2002
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701

2001
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998