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
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
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 |
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
|
|
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
|
|
|
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
|
|
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 |
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 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
rs63749993
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
|
22739024 |
2012 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
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 |
rs63749993
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
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
|
|
|
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
|
|
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 |
rs63750138
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
|
30128536 |
2019 |