Finding a rare variant

摘要

Familial melanoma has been linked to mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A) and CDK4, but these two genes account for only a minority of genetic risk. Two studies reported in Nature have now identified a germline mutation in microphthalmia-associated transcription factor (MITF) that predisposes to familial melanoma, as well as to sporadic melanoma and renal cell carcinoma (RCC).Melanoma and RCC coexist in some patients, an association that has been suggested to involve genetic predisposition.