Variant: rs146421227 

    present in Gene: MSH2
    present in Chromosome: 2
    Position on Chromosome: 47482912
    Alleles of this Variant: T/A

rs146421227 in MSH2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 15896463 2005 A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.

PMID 9419403 1997 Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.

PMID 10829038 2000 Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

PMID 9889267 1999 Functional analysis of human MutSalpha and MutSbeta complexes in yeast.

PMID 9621522 1998 Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.

PMID 18822302 2008 Functional analysis of HNPCC-related missense mutations in MSH2.

PMID 10612836 2000 Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 15046096 2004 Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer.

PMID 18561205 2008 A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

PMID 10573010 2000 Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 12658575 2003 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.

PMID 7874129 1994 Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

PMID 9718327 1998 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

PMID 15870828 2005 Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

PMID 12124176 2002 HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

PMID 18781619 2008 MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

PMID 16451135 2006 Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

PMID 10375096 1999 Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.