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Article

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

Human mutation - 1 Feb 2010

Molatore Sara, Russo Maria Teresa, D'Agostino Vito G, Barone Flavia, Matsumoto Yoshihiro, Albertini Alessandra M, Minoprio Anna, Degan Paolo, Mazzei Filomena, Bignami Margherita, Ranzani Guglielmina Nadia

Abstract excerpt

MUTYH-associated polyposis (MAP) is a colorectal cancer syndrome, due to biallelic mutations of MUTYH. This Base Excision Repair gene encodes for a DNA glycosylase that specifically mitigates the high mutagenic potential of the 8-hydroxyguanine (8-oxodG) along the DNA. Aim of this study was to characterize the biological effects, in a mammalian cell background, of human MUTYH mutations identified in MAP patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19953527
DOI: 10.1002/humu.21158

Genes

MUTYH

Variants

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