BAP1 and cancer: To verify if germline BAP1 mutations are associated with distinct syndromes or with a single syndrome exhibiting a wide phenotypic range, we first investigated the presence of melanocytic tumors in our two families and compared them to those published in the literature, and then conducted a pooled analysis of individuals from studies reporting BAP1-mutated families to compare cancer risk in the 63 mutated vs the 55 non-mutated individuals from those families.