NIH R01 · 2024
Spectrum of clinical phenotype of the BAP1-tumor predisposition syndrome (BAP1-TPDS)
ABSTRACT Germline mutation in the tumor suppressor gene BAP1 is associated with the hereditary tumor predisposition syndrome, BAP1-TPDS (OMIM 614327), that we and others identified in 2011. The syndrome is associated with predisposition to mainly four cancers: uveal melanoma, mesothelioma, cutaneous melanoma, and renal cell carcinoma in addition to a preneoplastic melanocytic skin lesions (BAP1-Inactivated Melanocytic Tumors). Other cancers have been also reported in patients with germline BAP1 mutation but it is not clear whether they are part of the BAP1-TPDS. Since its characterization, more than 200 distinct families have been reported with an increasing number of pathogenic/likely…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.