Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750875
rs63750875
MSH2
0.760 GeneticVariation BEFREE The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%. 21419771

2011
dbSNP: rs63750875
rs63750875
MSH2
0.760 GeneticVariation BEFREE Both mutations: c.3984_3987dup and c.1906G>C account for 61% of HNPCC Ashkenazi families in this cohort. 19851887

2010
dbSNP: rs63750875
rs63750875
MSH2
0.760 GeneticVariation BEFREE Although rare in the general population, A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers. 17414604

2007
dbSNP: rs63750875
rs63750875
MSH2
0.760 GeneticVariation BEFREE In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined. 15929773

2005
dbSNP: rs63750875
rs63750875
MSH2
0.760 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004
dbSNP: rs63750875
rs63750875
MSH2
0.760 GeneticVariation BEFREE A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews. 18674656

2008
dbSNP: rs63749993
rs63749993
MSH2
0.730 GeneticVariation BEFREE We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2006
dbSNP: rs63749993
rs63749993
MSH2
0.730 GeneticVariation BEFREE The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024

2012
dbSNP: rs63749993
rs63749993
MSH2
0.730 GeneticVariation BEFREE Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. 21225464

2011
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: 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: 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: rs63751147
rs63751147
MSH2
C 0.710 GeneticVariation CLINVAR

dbSNP: rs63751147
rs63751147
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: 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: 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 Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
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
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 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
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: 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 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 Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008