Abstract
MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterised by multiple colorectal adenomas and carcinoma. It is caused by inherited mutations in the human MutY homologue gene (MUTYH). MUTYH functions as a base excision repair DNA glycosylase that excises adenines misincorporated opposite 8-oxo-7,8-dihydro-2’-deoxyguanosine, one of the most stable products of oxidative DNA damage. The failure to correct this mispair is thought to cause the characteristic signature of G:C to T:A mutations found in MAP-associated tumours.
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Acknowledgements
Professor Cheadle is supported by Cancer Research UK, Cancer Research Wales and the Wales Gene Park.
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Cheadle, J.P. (2010). MUTYH-Associated Polyposis. In: Rodriguez-Bigas, M., Cutait, R., Lynch, P., Tomlinson, I., Vasen, H. (eds) Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-6603-2_7
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