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MutYH-Associated Polyposis (MAP): Molecular Genetic Aspects of the MUTYH Gene and Protein and Clinical Impacts of Mutations

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source: Critical reviews in oncology/hematology

year: 2011

authors: Nielsen M, Morreau H, Vasen H F, Hes F J

summary/abstract:

The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors. Furthermore, the relationship between MUTYH and the mismatch repair genes in colorectal cancer (CRC) families is examined. Finally, the role of other base excision repair genes in polyposis and CRC patients is discussed.

organization: Leiden University Medical Centre

DOI: 10.1016/j.critrevonc.2010.05.011

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