Colorectal cancer and inherited mutations in base-excision repair - 24/08/11

Doi : 10.1016/S1470-2045(04)01595-5

Elizabeth Chow ^a,^e, Christina Thirlwell ^b, Finlay Macrae ^c, Lara Lipton ^d,^⁎
^a EC is a clinical research fellow, at the Royal Melbourne Hospital, Victoria, Australia
^b LL a medical oncologist at the Familial Bowel Cancer Clinic, at the Royal Melbourne Hospital, Victoria, Australia
^c FM is head of colorectal medicine and genetics, at the Royal Melbourne Hospital, Victoria, Australia
^d CT is a clinical research fellow, at the Molecular and Population Genetics Laboratory, Cancer Research UK, London, UK
^e FM is also a professor of medicine at the University of Melbourne, Australia

^*Correspondence: Dr Lara Lipton, Familial Bowel Cancer Clinic, Royal Melbourne Hospital, Grattan Street, Parkville, Victoria 3050, Australia. Tel: +61 3 9347 3548. Fax: +61 3 9689 5700

Summary

Polyposis associated with mutations in the gene MUTYHis 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 linicopathological 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.

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