Familial adenomatous polyposis: Translating molecular advances into clinical practice

The rapid case of cancer gene discovery has opened a new avenue for cancer risk assessment and predictive gene testing. Familial adenomatous polyposis (FAP) has provided a model for translating research into clinical practice at multiple levels: mutation analysis, molecular testing methods, genetic counselling, and preventive intervention. FAP, an autosomal dominant syndrome of multiple adenomatous polyps in the colon and upper gastrointestinal tract, carries a significantly increased risk of colon cancer and other tumours. Since the discovery of APC as the causal gene, FAP is now recognised as one of the few cancer syndromes for which gene tests are clinically used. APC gene testing, accompanied by genetic counselling, is useful for confirming the diagnosis of FAP, and for testing at-risk individuals: those who test negative for APC mutations can be spared the conventional intensive colon screening regimen and the worry of cancer risk and prophylactic surgery. Eventually, non-surgical interventions may be possible for APC gene mutation carriers.