|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.
|
7874129 |
1994 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
|
9419403 |
1997 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.
|
9621522 |
1998 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
|
9718327 |
1998 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of human MutSalpha and MutSbeta complexes in yeast.
|
9889267 |
1999 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
|
10375096 |
1999 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
|
10573010 |
2000 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.
|
10612836 |
2000 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Population-based molecular detection of hereditary nonpolyposis colorectal cancer.
|
10829038 |
2000 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.
|
11598466 |
2001 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
|
12124176 |
2002 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
|
12658575 |
2003 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer.
|
15046096 |
2004 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
|
15870828 |
2005 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.
|
15896463 |
2005 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
|
16451135 |
2006 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.
|
18781619 |
2008 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of HNPCC-related missense mutations in MSH2.
|
18822302 |
2008 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
|
22102614 |
2012 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.
|
22167527 |
2012 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
|
23408351 |
2013 |