We also conduct a phenome-wide association study on 63,590 carriers of BAP1 variants and find an increased frequency of cancer in carriers of disruptive variants, as well as elevated levels of circulating insulin-like growth factor 1 (IGF-1), which is a tumor promoter and mitogen, revealing a potentially targetable mechanism contributing to BAP1-associated malignancies. The gene discussed is BAP1; the disease is cancer.