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

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 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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Abstract

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:	25 Oct 2022 09:46
URI:	https://orca.cardiff.ac.uk/id/eprint/59927

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