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MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing

Cheadle, Jeremy Peter and Sampson, Julian Roy 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6 (3) , pp. 274-279. 10.1016/j.dnarep.2006.11.001

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Established predisposition genes account for only a small proportion of familial colorectal cancer. Recently, it has been shown that germline mutations in MUTYH predispose to MUTYH-associated polyposis (MAP), an autosomal recessive disorder characterised by multiple colorectal adenomas and carcinomas. 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. It is the failure to correct this mispair that is thought to give rise to the characteristic signature of G:C → T:A mutations found in MAP-associated tumours. Here, we review the germline mutation spectrum at the MUTYH locus (comprising 30 truncating and 55 missense/inframe insertion/deletion variants) and the molecular mechanism and biochemical defect(s) underlying this disorder. We also discuss the application of molecular genetic analysis of MUTYH in clinical practice.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Uncontrolled Keywords: MUTYH-associated polyposis; MUTYH; MAP; Colorectal cancer; Base excision repair; MYH
Publisher: Elsevier
ISSN: 1568-7864
Last Modified: 04 Jun 2017 06:25

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