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Background  BRCA1–associated protein 1 ( BAP1 ) is a tumor suppressor gene located on chromosome 3p21. Germline  BAP1  mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocytic tumors and other neoplasms. To answer the question if different germline  BAP1  mutations may predispose to a single syndrome with a wide phenotypic range or to distinct syndromes, we investigated the presence of melanocytic tumors in two unrelated families (L and W) with germline  BAP1  mutations and increased risk of malignant mesothelioma.    Methods  Suspicious cutaneous lesions were clinically and pathologically characterized and compared to those present in other families carrying  BAP1  mutations. We then conducted a meta-analysis of all the studies reporting  BAP1 -mutated families to survey cancer risk related to the germline BAP1 mutation (means were compared using t-test and proportions were compared with Pearson χ 2  test or two-tailed Fisher’s exact test).    Results  Melanocytic tumors: of the five members of the L family studied, four (80%) carried a germline  BAP1  mutation (p.Gln684*) and also presented one or more atypical melanocytic tumors; of the seven members of W family studied, all carried a germline  BAP1  mutation (p.Pro147fs*48) and four of them (57%) presented one or more atypical melanocytic tumors, that we propose to call “melanocytic  BAP1 -mutated atypical intradermal tumors” (MBAITs). Meta-analysis: 118 individuals from seven unrelated families were selected and divided into a  BAP1 -mutated cohort and a  BAP1 -non-mutated cohort. Malignant mesothelioma, uveal melanoma, cutaneous melanoma, and MBAITs prevalence was significantly higher in the  BAP1 -mutated cohort (p ≤ 0.001).    Conclusions  Germline  BAP1  mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and MBAITs, and possibly by other cancers. MBAITs provide physicians with a marker to identify individuals who may carry germline  BAP1  mutations and thus are at high risk of developing associated cancers.

BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs