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MutYH ( MYH ) and colorectal cancer

2005; Portland Press; Volume: 33; Issue: 4 Linguagem: Inglês

10.1042/bst0330679

1470-8752

Julian R. Sampson, Siân Jones, Sunil Dolwani, Jeremy P. Cheadle,

DNA Repair Mechanisms

MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflecting the normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine, a prevalent and stable product of oxidative damage to DNA. However, the full genetic pathway of MAP tumorigenesis has not been elucidated.