Variant: rs2020908 

    present in Gene: MSH6;FBXO11
    present in Chromosome: 2
    Position on Chromosome: 47799169
    Alleles of this Variant: C/G

rs2020908 in MSH6;FBXO11 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 9354786 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

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 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

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

PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 11586295 2001 A role for MLH3 in hereditary nonpolyposis colorectal cancer.

PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

PMID 10521294 1999 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.