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BAP1 Syndrome — SCE Medical Oncology MCQ

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HardCancer GeneticsBAP1 SyndromeSCE Medical Oncology

A healthy 30-year-old carries a germline pathogenic BAP1 variant. Which surveillance combination is supported by the 2023 consensus guideline?

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Correct answer: C — Annual ocular review from age 16–18 and annual renal MRI from age 30

BAP1 consensus guidance starts annual ocular surveillance at 16–18 years and annual renal imaging at 30, with MRI preferred and ultrasound an alternative. Routine CT screening for mesothelioma is not established, and neither PET-CT nor prophylactic nephrectomy is a surveillance default.

Reference: Clinical practice guidelines for BAP1 tumour predisposition syndrome. https://pmc.ncbi.nlm.nih.gov/articles/PMC10620132/