The spectrum of tumors harboring BAP1 gene alterations

Germline pathogenic sequence variants (PSVs) in the BRCA1-associated protein (BAP1) gene (MIM # 603089) are associated with a rare inherited BAP1-related tumor predisposition syndrome (TPDS) (MIM # 614327). BAP1 PSVs confer a substantially increased risk for developing uveal (UM) and cutaneous melanoma (CM), pleural and peritoneal mesothelioma, and renal cell carcinoma (RCC), and an increased risk for developing other cancer types, including breast cancer (BC), albeit to a lesser extent [1 –3]. Somatic inactivation of the BAP1 gene is commonly encountered in TPDS-related tumors and, to a lesser degree, in other tumors (e.g., esophageal cancer) [4].

Source: Cancer Genetics and Cytogenetics - April 4, 2021 Category: Genetics & Stem Cells Authors: Yael Laitman, Justin Newberg, Rinat Bernstein Molho, Dexter X. Jin, Eitan Friedman Source Type: research