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Colorectal cancer and inherited mutations in base-excision repair

Chow, E; Thirlwell, C; Macrae, F; Lipton, L; (2004) Colorectal cancer and inherited mutations in base-excision repair. LANCET ONCOL , 5 (10) 600 - 606.

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Abstract

Polyposis associated with mutations in the gene MUTYH is an autosomal recessive syndrome characterised by the development of multiple colorectal adenomas and cancer. It is the first cancer-predisposition disorder to be associated with defects in the pathway of base-excision repair. We review our knowledge to date of the disease, discuss base-excision repair in relation to cellular defence against oxidative damage, and give an overview of the molecular genetics and clinicopathological features of tumours associated with MUTYH mutations. No longer a research finding, genetic testing for MUTYH is now a necessary part of molecular diagnosis in familial cancer clinics throughout Australia and the UK. Current recommendations for the screening and management of the disease are also discussed.

Type: Article
Title: Colorectal cancer and inherited mutations in base-excision repair
Keywords: FAMILIAL ADENOMATOUS POLYPOSIS, OXIDATIVE DNA-DAMAGE, SOMATIC G-C->T-A MUTATIONS, DISTINCT GENETIC PATHWAY, GERMLINE MUTATIONS, JUVENILE POLYPOSIS, HUMAN HOMOLOG, COMPREHENSIVE ANALYSIS, APC GENE, MYH
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
URI: http://discovery.ucl.ac.uk/id/eprint/319337
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