Variant: rs2020912 

    present in Gene: MSH6;FBXO11
    present in Chromosome: 2
    Position on Chromosome: 47800616
    Alleles of this Variant: T/C;G

rs2020912 in MSH6;FBXO11 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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

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

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

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

PMID 9354786 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

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 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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

rs2020912 in MSH6;FBXO11 gene and Colorectal Carcinoma PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

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

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 12522549 2003 Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.

PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

rs2020912 in MSH6;FBXO11 gene and Endometrial Carcinoma PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.