Advances in the Genetics of Familial Renal Cancer

Learning Objectives After completing this couse, the reader will be able to: Apply presymptomatic gene testing to family members with familial renal cancer in order to facilitate earlier diagnosis and treatment for this population.Use genetic testing for timely detection of familial renal cancer in carriers to enable earlier use and increased efficacy of VEGF and mTOR pathway inhibiting drugs. CME This article is available for continuing medical education credit at CME.TheOncologist.com. We discuss recent advances in the diagnosis and management of renal cell cancer (RCC) given the enhanced molecular genetics knowledge in this area. A number of hereditary renal cancer syndromes have been described, including von Hippel-Lindau disease, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis/RCC syndrome, and hereditary papillary renal cancer. Early molecular diagnosis now facilitates the management and prevention of RCC in families. Recommendations for screening in families are discussed.