Variant: rs121908380 

    present in Gene: MUTYH
    present in Chromosome: 1
    Position on Chromosome: 45333449
    Alleles of this Variant: G/A;T

rs121908380 in MUTYH gene and Colorectal Adenomatous Polyposis, Autosomal Recessive PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

PMID 12393807 2002 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

PMID 17219385 2007 Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 18564191 2008 Pathological features of colorectal carcinomas in MYH-associated polyposis.

PMID 17273161 2007 BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees.

PMID 18091433 2007 Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 16492921 2006 Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.

PMID 16890597 2006 Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.

PMID 24444654 2014 Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.

rs121908380 in MUTYH gene and MUTYH-Associate Polyposis PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

rs121908380 in MUTYH gene and Neoplastic Syndromes, Hereditary PMID 27829682 2017 Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

PMID 12393807 2002 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.