Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk
American Journal of Ophthalmology(2021)
摘要
•The BAP1 tumor predisposition syndrome (BAP1-TPDS, MIM 614327) is a recently recognized autosomal dominant syndrome with predisposition to uveal melanoma.•Systemic syndrome defining tumors include mesothelioma, cutaneous melanoma, and renal cell carcinoma.•In patients with germline BAP1 pathogenic variant, we estimate that the risk of developing uveal melanoma is about 2.8% (95% CI 0.88%-4.81%).
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