ABC of colorectal cancer: The role of clinical genetics in management

doi:10.1136/bmj.321.7266.943

BMJ 2000;321:943-946 ( 14 October )

Clinical review

ABC of colorectal cancer

The role of clinical genetics in management

T R P Cole, H V Sleightholme.

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Before 1990 the role of inherited factors in the aetiology of adult cancer was relatively poorly understood and aroused littleinterest among doctors and the public alike $---$ although familialadenomatous polyposis (the autosomal dominant colon cancer syndrome)was an exception in this respect. In the past decade, however,interest has increased markedly. In the West Midlands, for example,familial cancer referrals constituted <1% (<20 cases) of all clinicalgenetic referrals in 1991, whereas now they represent over 30%of cases (>1000).

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Despite the estimate that 5-10% of colorectal cancer has an inherited basis, only a small percentage of referred familieshave mutations in one of the currently identified genes. Furthermore,mutation studies are usually possible only if DNA is availablefrom an affected patient, so molecular investigation will facilitatethe management of only a small minority of cases. The remainingreferrals must be managed with clinically derived strategies.This article discusses the . . . [Full text of this article]

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