Pathogenic variants (disease-causing) in the BAP1 gene are associated with BAP1 tumor predisposition syndrome, which increases the risk for several cancers. These include uveal (eye) melanoma, cutaneous (skin) melanoma, mesothelioma, and renal cell carcinoma. Other tumors such as meningiomas (typically benign brain tumors) have also been reported. Individuals with pathogenic variants in the BAP1 gene may develop multiple cancers over their lifetime, often at younger ages than the general population. Management of BAP1–related tumor risk includes regular surveillance tailored to guidelines to detect tumors and cancers early. BAP1 variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in BAP1 exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
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Written December 2025
