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FAP Management — RACP Adult Medicine MCQ

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HardGastroenterologyFAP ManagementRACP Adult Medicine

A 40-year-old with a pathogenic APC variant and more than 100 colorectal adenomas has a healthy 15-year-old daughter. What is the most appropriate next step for the daughter?

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Correct answer: A — Offer genetic counselling and predictive testing for the known familial APC variant, with surveillance linked to the result

The best answer is “Offer genetic counselling and predictive testing for the known familial APC variant, with surveillance linked to the result”. Familial adenomatous polyposis has near-complete penetrance and clinically important polyposis can begin in adolescence. A known familial variant enables targeted predictive testing after counselling; carriers enter age-appropriate endoscopic and extracolonic surveillance, while non-carriers can avoid an FAP programme. Population screening, symptoms or prophylactic surgery are not substitutes for defining inherited risk.

Reference: Cancer Council Australia: Clinical practice guidelines for prevention and early detection of colorectal cancer: https://www.cancer.org.au/health-professionals/clinical-practice-guidelines/colorectal-cancer