Diseases of Hereditary Renal Cell Cancers

Abstract

Germline mutations in tumor suppressor genes and oncogenes lead to hereditary renal cell carcinoma (HRCC) diseases, characterized by a high risk of RCC and extrarenal manifestations. Patients of young age, those with a family history of RCC, and/or those with a personal and family history of HRCC-related extrarenal manifestations should be referred for germline testing. Identification of a germline mutation will allow for testing of family members at risk, as well as personalized surveillance programs to detect the early onset of HRCC-related lesions. The latter allows for more targeted and therefore more effective therapy and better preservation of renal parenchyma.

Keywords: Birt–Hogg–Dubé (BHD); Folliculin; Fumarate hydratase (FH); Germline mutations; Hereditary kidney cancers; Hereditary leiomyomatosis and renal cell carcinoma (HLRCC); Succinate dehydrogenase (SDH); Von Hippel–Lindau (VHL).