Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. 18841495

2009
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia. 17348456

2007
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388

2007
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412

2006
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045

2005
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. 16181381

2005
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer. 15680406

2005
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. 14574162

2003
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 12112654

2002
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. 12067992

2002
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. 11772966

2002
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676

1998
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463

1996