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.
Conference Article| August 01 2005
MutYH (MYH) and colorectal cancer
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J.R. Sampson, S. Jones, S. Dolwani, J.P. Cheadle; MutYH (MYH) and colorectal cancer. Biochem Soc Trans 1 August 2005; 33 (4): 679–683. doi: https://doi.org/10.1042/BST0330679
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