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Article

MUTYH hotspot mutations in unselected colonoscopy patients.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland - 1 May 2012

Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J

Abstract excerpt

AIM: Biallelic MutY human homologue (MUTYH) germline mutations predispose to recessively inherited adenomatous polyposis, designated MUTYH-associated polyposis (MAP), and colorectal cancer (CRC). The hotspot mutations p.Y179C and p.G396D account for the majority of pathogenic variants of MUTYH in Caucasians. Our aim was to evaluate the prevalence of MUTYH mutations in a prospective cohort of unselected patients...

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Source

Identifiers

PMID: 22469480
DOI: 10.1111/j.1463-1318.2012.02920.x

Genes

MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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