Variant: rs34612342 

    present in Gene: MUTYH
    present in Chromosome: 1
    Position on Chromosome: 45332803
    Alleles of this Variant: T/C

rs34612342 in MUTYH gene and Colorectal Adenomatous Polyposis, Autosomal Recessive PMID 16140997 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

PMID 11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

PMID 16557584 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

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

PMID 12606733 2003 Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

PMID 27829682 2017 Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

PMID 22926731 2012 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

PMID 21171015 2011 Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

PMID 21178863 2010 Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.

PMID 19953527 2010 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

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

PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

PMID 22266422 2012 The first mutations in the MYH gene reported in Moroccan colon cancer patients.

PMID 20418187 2010 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

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

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

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

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

rs34612342 in MUTYH gene and Colorectal Carcinoma PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 20725929 2010 Leiden Open Variation Database of the MUTYH gene.

PMID 23605219 2014 MUTYH-associated colorectal cancer and adenomatous polyposis.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

rs34612342 in MUTYH gene and MUTYH-Associate Polyposis PMID 23361220 2014 In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history.

PMID 25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

PMID 16616356 2006 Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

PMID 16140997 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

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

rs34612342 in MUTYH gene and Neoplastic Syndromes, Hereditary PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

PMID 16338133 2006 Relative and absolute risk of colorectal cancer for individuals with a family history: a meta-analysis.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 27631816 2017 Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer.