Variant: rs63750741 

    present in Gene: FBXO11;MSH6
    present in Chromosome: 2
    Position on Chromosome: 47799329
    Alleles of this Variant: T/C

rs63750741 in FBXO11;MSH6 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

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 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

rs63750741 in FBXO11;MSH6 gene and Colorectal Carcinoma 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 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

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

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

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

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

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

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

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

rs63750741 in FBXO11;MSH6 gene and Endometrial Carcinoma 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 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

rs63750741 in FBXO11;MSH6 gene and Hereditary Nonpolyposis Colorectal Cancer 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 16283884 2005 In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.

rs63750741 in FBXO11;MSH6 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

rs63750741 in FBXO11;MSH6 gene and Neoplastic Syndromes, Hereditary PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 25345868 2015 Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 17531815 2007 Structure of the human MutSalpha DNA lesion recognition complex.

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.