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CDH1/HDGC — SCE Medical Oncology MCQ

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HardCancer GeneticsCDH1/HDGCSCE Medical Oncology

A healthy 26-year-old pathogenic CDH1 carrier has a mother and brother affected by diffuse gastric cancer. High-quality expert-centre endoscopy is normal. What risk-reducing strategy should the MDT recommend?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: E — Offer prophylactic total gastrectomy after detailed counselling; if she defers, arrange annual expert-centre protocol endoscopy

Explanation lettering: E = shown as A · D = shown as B · A = shown as C · C = shown as D · B = shown as E

B is correct. A young CDH1 carrier from a family with diffuse gastric cancer should be offered prophylactic total gastrectomy because microscopic signet-ring foci are multifocal and difficult to exclude endoscopically. Deferral is a valid informed choice, but requires annual surveillance in an expert centre using the appropriate intensive protocol. Subtotal surgery leaves at-risk gastric mucosa; H. pylori eradication does not correct inherited E-cadherin dysfunction; and early adulthood, not late life, is the usual timing for risk-reducing discussion. Surgery after 70 is considered more cautiously because morbidity weighs differently.

Reference: NHS Genomics Education hereditary diffuse gastric cancer guidance: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/hereditary-diffuse-gastric-cancer-syndrome-cdh1-related/