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

  • Georgios Kallinikas
  • Helai Habib
  • Dimitrios Tsimiliotis
  • Evangelos Koutsokostas
  • Barna Bokor
Urology - Review

DOI: 10.1007/s11255-017-1625-8

Cite this article as:
Kallinikas, G., Habib, H., Tsimiliotis, D. et al. Int Urol Nephrol (2017). doi:10.1007/s11255-017-1625-8

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.

Keywords

Genetic testing Renal cell carcinoma Germline mutation Von Hippel–Lindau Kidney neoplasms Genetic counseling 

Copyright information

© Springer Science+Business Media Dordrecht 2017

Authors and Affiliations

  • Georgios Kallinikas
    • 1
  • Helai Habib
    • 2
  • Dimitrios Tsimiliotis
    • 3
  • Evangelos Koutsokostas
    • 4
  • Barna Bokor
    • 1
  1. 1.Department of UrologyKent and Canterbury HospitalCanterburyUK
  2. 2.Department of Upper G I SurgeryUCLHLondonUK
  3. 3.Department of UrologyGeneral Hospital of ChalkidaChalkidaGreece
  4. 4.Department of UrologyKonstantopouleion-Patision HospitalNea IoniaGreece

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