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Article

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

Gastroenterology - 1 Feb 2009

Nielsen Maartje, Joerink-van de Beld Mirjam C, Jones Natalie, Vogt Stefanie, Tops Carli M, Vasen Hans F A, Sampson Julian R, Aretz Stefan, Hes Frederik J

Abstract excerpt

BACKGROUND & AIMS: Biallelic mutations in the base excision DNA repair gene MUTYH lead to MUTYH-associated polyposis (MAP) and predisposition to colorectal cancer (CRC). Functional studies have demonstrated significant differences in base recognition and glycosylase activity between various MUTYH mutations, notably for the 2 mutations most frequently reported in MAP patients: Y179C and G396D (previously annotated...

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Source

Identifiers

PMID: 19032956
DOI: 10.1053/j.gastro.2008.10.056

Genes

MUTYH

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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