BRCA-1 associated protein (BAP1) functions as a tumor suppressor
gene by modulating a number of cellular processes
including cell cycle progression, cell growth, DNA repair and
stem cell dynamics (1–5). Germline mutations in BAP1 have
been implicated in causing an autosomal dominant tumor predisposition
syndrome (6) (OMIM #6143237) that is associated
with predisposition to uveal melanomas, melanocytic tumors
and mesotheliomas (7–10). Since the original description of
the BAP1 predisposition syndrome additional cancers such
as renal cell carcinoma, cutaneous melanoma and basal cell
carcinoma, have been linked with germline mutations of BAP1
(11–14). In the present study we report a novel germline BAP1