|
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 |
|
rs587778966
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).
|
16982745 |
2006 |
|
rs587778966
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.
|
12732731 |
2003 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
|
23621914 |
2013 |
|
rs63750138
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.
|
14974087 |
2004 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.
|
14974087 |
2004 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.
|
11470537 |
2001 |
|
rs63750138
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750206
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).
|
16982745 |
2006 |
|
rs63750206
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele.
|
19142183 |
2009 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
|
12810663 |
2003 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
|
19669161 |
2010 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
|
17054581 |
2006 |
|
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
|
rs63750217
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
|
28369810 |
2017 |