×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
15942939 2005
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
GeneticVariation
CLINVAR
Mechanisms of pathogenicity in human MSH2 missense mutants.
18951462 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
22739024 2012
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
18415027 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
19698169 2009
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
19459153 2009
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
12362047 2002
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
GeneticVariation
CLINVAR
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.
16327991 2006
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome.
21225464 2011
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
25559809 2015
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
19419416 2009
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
GeneticVariation
CLINVAR
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.
8521394 1995
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer.
10080150 1999
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
20587412 2010
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
18566915 2009
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
17312306 2007
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
10995807 2000
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
GeneticVariation
CLINVAR
Inherited deleterious mutations in mismatch repair genes MLH1, MSH2 , and MSH6 predispose to hereditary nonpolyposis colorectal cancer .
17101317 2006
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
17453009 2007
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
18383312 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
A rapid and cell-free assay to test the activity of lynch syndrome -associated MSH2 and MSH6 missense variants.
22102614 2012
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers.
18841495 2009
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Mismatch repair gene mutations in Chinese HNPCC patients.
18931482 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
17440950 2007
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
CausalMutation
CLINVAR
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
20215533 2010