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Investigates APC mosaicism prevalence in patients with adenomas and suggests appropriate testing and intervention strategies.
We recommend APC mosaicism testing at least in patients negative for germline pathogenic variants with (1) ≥20 adenomas before the age of 60 or (2) ≥30 adenomas before the age of 70. Regular colonoscopy and at least 1 gastroduodenoscopy should be offered to APC mosaic patients, with frequency of follow-up based on findings. Offering germline testing for offspring should be considered.
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Terlouw et al. (2026) studied this question.
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