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01-09-2017 | Urology - Review

Renal cell cancers: unveiling the hereditary ones and saving lives—a tailored diagnostic approach

Authors: Georgios Kallinikas, Helai Habib, Dimitrios Tsimiliotis, Evangelos Koutsokostas, Barna Bokor

Published in: International Urology and Nephrology | Issue 9/2017

Abstract

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.

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Title: Renal cell cancers: unveiling the hereditary ones and saving lives—a tailored diagnostic approach
Authors: Georgios Kallinikas
Helai Habib
Dimitrios Tsimiliotis
Evangelos Koutsokostas
Barna Bokor
Publication date: 01-09-2017
Publisher: Springer Netherlands
Published in: International Urology and Nephrology / Issue 9/2017
Print ISSN: 0301-1623
Electronic ISSN: 1573-2584
DOI: https://doi.org/10.1007/s11255-017-1625-8

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