Clinical Review ABC of colorectal cancer

The role of clinical genetics in management

BMJ 2000; 321 doi: https://doi.org/10.1136/bmj.321.7266.943 (Published 14 October 2000) Cite this as: BMJ 2000;321:943
  1. T R P Cole,
  2. H V Sleightholme

    Before 1990 the role of inherited factors in the aetiology of adult cancer was relatively poorly understood and aroused little interest among doctors and the public alike—although familial adenomatous 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 clinical genetic referrals in 1991, whereas now they represent over 30% of cases (>1000).

    Number of referrals of patients with cancer (except familial adenomatous polyposis) to West Midlands regional clinical genetics service, 1988-98

    Despite the estimate that 5-10% of colorectal cancer has an inherited basis, only a small percentage of referred families have mutations in one of the currently identified genes. Furthermore, mutation studies are usually possible only if DNA is available from an affected patient, so molecular investigation will facilitate the management of only a small minority of cases. The remaining referrals must be managed with clinically derived strategies. This article discusses the clinical features and management of dominant colon cancer syndromes and provides referral guidelines and screening protocols for more common familial clusters.

    Features of familial adenomatous polyposis: colon with multiple polyps (top) and jaw cysts (bottom)

    Genetic counselling for families with a history of cancer requires a full and accurate family history. When possible, histological confirmation of the reported tumours should be obtained. It should then be possible to recognise the specific cancer syndromes. It is important to emphasise to families that however extensive the family history of cancer (unless present on both sides), a person will always have a greater than 50% chance of not developing that particular tumour. This may surprise but greatly reassure many families.

    Familial adenomatous polyposis

    Familial adenomatous polyposis, previously called polyposis coli (or Gardner's syndrome if extra colonic …

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