rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Among Ashkenazi Jewish HNPCC cases, recurring mutations in the MSH2 (1906G>C; A636P) and MSH6 (c.3984_3987dupGTCA; c.3959_3962delCAAG) genes can be detected.
|
22219001 |
2012 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
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
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients.
|
20850175 |
2010 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
|
19267393 |
2009 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews.
|
18674656 |
2008 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
|
17594722 |
2007 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
|
17101317 |
2006 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.
|
15845562 |
2005 |
rs63750875
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
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 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
|
22739024 |
2012 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
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 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
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
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer.
|
10080150 |
1999 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
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 |
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 |
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 |
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
|
15235030 |
2004 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
|
12124176 |
2002 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
|
10469597 |
1999 |
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 |
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.
|
8521394 |
1995 |