A Rare Variant Confers Risk for Melanoma and Renal Carcinoma

Two major approaches are used to identify disease-associated genes: the genome-wide association study, in which large numbers of individuals are sequenced, and family-based methods, which focus on related individuals with high risk. This latter method was employed recently by two research groups that identified a microphthalmia-associated transcription factor gene (MITF) mutation that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC).

Bertolotto and colleagues studied kindreds with susceptibility to RCC and melanoma. They surmised a role for MITF, which has been implicated as a melanoma oncogene and which regulates the hypoxia-inducible factor (HIF) family pathway involved in RCC. The researchers did, in fact, f…