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Article

Monoallelic deleterious MUTYH germline variants as a driver for tumorigenesis.

The Journal of pathology - 1 Feb 2022

Barreiro Rodrigo Araujo Sequeira, Sabbaga Jorge, Rossi Benedito M, Achatz Maria Isabel W, Bettoni Fabiana, Camargo Anamaria A, Asprino Paula F, A F Galante Pedro

Abstract excerpt

MUTYH encodes a glycosylase involved in the base excision repair of DNA. Biallelic pathogenic germline variants in MUTYH cause an autosomal recessive condition known as MUTYH-associated adenomatous polyposis and consequently increase the risk of colorectal cancer. However, reports of increased cancer risk in individuals carrying only one defective MUTYH allele are controversial and based on studies involving few...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34816434
DOI: 10.1002/path.5829

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