Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751192
rs63751192
MSH2
0.710 GeneticVariation BEFREE MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France. 31433521

2020
dbSNP: rs587779139
rs587779139
MSH2
0.710 GeneticVariation BEFREE The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. 30968502

2019
dbSNP: rs63751624
rs63751624
MSH2
0.710 GeneticVariation BEFREE Three Lynch syndrome cases were identified: MSH2 c.2634G>A pathogenic mutation, c.(1896+1_1897-1)_(*193_?)del , and one fulfilling the Amsterdam criteria, with MLH1 and PMS2 deficiency, but no identifiable pathogenic mutation. 31647837

2019
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs63750493
rs63750493
MSH2
0.710 GeneticVariation BEFREE Here, we report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2 gene. 21354521

2011
dbSNP: rs63750042
rs63750042
MSH2
0.710 GeneticVariation BEFREE Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing. 19669601

2009
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 17720936

2007
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation 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: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Mutator phenotypes of common polymorphisms and missense mutations in MSH2. 10469597

1999
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676

1998
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. 8521394

1995
dbSNP: rs63751207
rs63751207
MSH2
0.710 GeneticVariation BEFREE We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer. 7937795

1994
dbSNP: rs587779139
rs587779139
MSH2
T 0.710 CausalMutation CLINVAR

dbSNP: rs63750042
rs63750042
MSH2
T 0.710 CausalMutation CLINVAR

dbSNP: rs63750493
rs63750493
MSH2
G 0.710 CausalMutation CLINVAR

dbSNP: rs63751147
rs63751147
MSH2
C 0.710 GeneticVariation CLINVAR

dbSNP: rs63751192
rs63751192
MSH2
TACCG 0.710 CausalMutation CLINVAR

dbSNP: rs63751624
rs63751624
MSH2
A 0.710 CausalMutation CLINVAR

dbSNP: rs267608017
rs267608017
MSH2
C 0.700 CausalMutation CLINVAR Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer. 31101557

2019
dbSNP: rs587779157
rs587779157
MSH2
G 0.700 GeneticVariation CLINVAR Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. 30376427

2019
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing. 28932927

2018