rs63750875
|
|
|
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 |
rs63750875
|
|
|
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 |
rs63750875
|
|
|
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 |
rs63750875
|
|
|
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 |
rs63750875
|
|
|
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 |
rs63750875
|
|
|
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 |
rs63749993
|
|
|
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 |
rs63749993
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
|
22739024 |
2012 |
rs63749993
|
|
|
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 |
rs587779139
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
|
30968502 |
2019 |
rs63750042
|
|
|
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 |
rs63750493
|
|
|
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 |
rs63751147
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs63751147
|
|
|
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 |
rs63751192
|
|
|
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 |
rs63751207
|
|
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 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.
|
8521394 |
1995 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
|
10469597 |
1999 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
|
12124176 |
2002 |
rs63751207
|
|
|
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 |
rs63751207
|
|
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 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
|
17720936 |
2007 |
rs63751207
|
|
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 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |