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

Renal cell cancers: unveiling the hereditary ones and saving lives—a tailored diagnostic approach 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png International Urology and Nephrology Springer Journals

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

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Publisher
Springer Netherlands
Copyright
Copyright © 2017 by Springer Science+Business Media Dordrecht
Subject
Medicine & Public Health; Nephrology; Urology
ISSN
0301-1623
eISSN
1573-2584
D.O.I.
10.1007/s11255-017-1625-8
Publisher site
See Article on Publisher Site

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.

Journal

International Urology and NephrologySpringer Journals

Published: May 31, 2017

References

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