Of these, we identified 2 truncating mutations in well-described tumor suppressor genes, RB1 and MED12. We additionally note several mutations of less clear oncogenic consequence, including a truncating mutation in ITGA2, a possible tumor suppressor, and a nonsynonymous mutation in PDGFRA that has been reported in several cancer cases, but is also an uncommon population polymorphism [16–18]. Here, RB1 is linked to cancer.