×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
15872200 2005
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.
27606285 2016
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
26517685 2015
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Mechanisms of pathogenicity in human MSH2 missense mutants.
18951462 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
9718327 1998
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
16451135 2006
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Lynch Syndrome in high risk Ashkenazi Jews in Israel.
23990280 2014
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations.
19760518 2009
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
15235030 2004
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
GeneticVariation
CLINVAR
Integrated analysis of unclassified variants in mismatch repair genes.
21239990 2011
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
GeneticVariation
CLINVAR
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
26951660 2016
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
22949379 2013
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.
18781619 2008
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Splice site mutations in mismatch repair genes and risk of cancer in the general population.
23329266 2013
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
GeneticVariation
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
15991314 2005
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
The novel germline mutation of hMSH2 gene in a case of a hereditary non-polyposis colorectal cancer (HNPCC) patient who meets the revised Amsterdam criteria.
14594944 2003
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
24278394 2013
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2.
23248292 2013
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Mutation spectrum in South American Lynch syndrome families.
24344984 2013
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
19669161 2010
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.
14574162 2003
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600
CausalMutation
CLINVAR
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
12124176 2002