Regarding the three pedigrees in which a clear loss-of-function BAP1 variant was identified (Table 1, Fig. 3A–C), their family histories of cancer were suggestive of a deleterious BAP1 variant, although the reported cancers most strongly associated with the mutation were mesotheliomas, meningiomas and BCC rather than the uveal melanomas in which germline BAP1 mutations were first reported (Fig. 3) (13). The gene discussed is BAP1; the disease is cancer.