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. 2025 Jul 28.
doi: 10.1097/PAP.0000000000000507. Online ahead of print.

BAP1 Tumor Predisposition Syndrome

Rossana N Lazcano Segura  1 , Mai P Hoang  1   2
Affiliations

BAP1 Tumor Predisposition Syndrome

Rossana N Lazcano Segura et al. Adv Anat Pathol. .

Abstract

BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome is due to germline mutation of BAP1, a tumor suppressor gene. Patients with this syndrome has an increased susceptibility to the development of uveal melanomas, cutaneous melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, clear cell renal cell carcinoma, and other tumors. These syndromic tumors exhibit an aggressive growth and earlier onset in comparison to sporadic tumors. In this review we outline the history, epidemiology, and genetics of this syndrome. The clinical presentation and histopathology of commonly developed tumors in syndromic patients, namely uveal melanomas, cutaneous atypical melanocytic lesions, mesotheliomas, and clear cell renal cell carcinoma are discussed.

Keywords: BAP1; cutaneous melanoma; mesothelioma; renal cell carcinoma; syndrome; tumor predisposition; uveal melanoma.

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Conflict of interest statement

The authors have no funding or conflicts of interest to disclose.

References

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