Renal cell cancers: unveiling the hereditary ones and saving lives—a tailored diagnostic approach
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The prevalence of RCC in Europe is 2–3% and increasing every year. Hereditary predisposition is found in 5–8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel–Lindau, hereditary papillary renal cell carcinoma, Birt–Hogg–Dube’, hereditary leiomyomatosis, succinate dehydrogenase’s deficiency, tuberous sclerosis complex and Cowden’s syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening. The scope of this article is to review which clinical manifestations should direct clinicians’ thinking towards hereditary kidney carcinomas and therefore suggest which patients could benefit from genetic testing.
KeywordsGenetic testing Renal cell carcinoma Germline mutation Von Hippel–Lindau Kidney neoplasms Genetic counseling
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Conflict of interest
All authors declare that there is no involvement in any institute, organization or company regarding financial or nonfinancial relationships that could pose a conflict of interest.
Animals or human participants
This article does not contain any studies with animals or human participants performed by any of the authors.
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