Hereditary prostate cancer - Primetime for genetic testing?

Heidegger I1, Tsaur I2, Borgmann H2, Surcel C3, Kretschmer A4, Mathieu R5, Visschere P6, Valerio M7, van den Bergh RCN8, Ost P9, Tilki D10, Gandaglia G11, Ploussard G12; EAU-YAU Prostate Cancer Working Party.

Author information

1: Department of Urology, Medical University Innsbruck, Innsbruck, Austria. Electronic address: Isabel-maria.heidegger@i-med.ac.at.
2: Department of Urology and Pediatric Urology, Mainz University Medicine, Mainz, Germany.
3: Department of Urology, Fundeni Clinical Institute, University of Medicine and Pharmacy, Carol Davila Bucharest, Bucharest, Romania.
4: Department of Urology, Ludwig-Maximilians-University of Munich, Munich, Germany.
5: Department of Urology, CHU Rennes, Rennes, France.
6: Department of Radiology and Nuclear Medicine, Ghent University Hospital, Ghent, Belgium.
7: Department of Urology, CHUV Lausanne, Switzerland.
8: Department of Urology, Antonius Hospital, Utrecht, the Netherlands.
9: Department of Radiation Oncology and Experimental Cancer Research, Ghent University Hospital, Ghent, Belgium.
10: Martini Klinik Prostate Cancer Center, University Hospital Hamburg-Eppendorf, Hamburg, Germany; Department of Urology, University Hospital-Hamburg Eppendorf, Hamburg, Germany.
11: Department of Urology, Urological Research Institute, Vita-Salute University and San Raffaele Hospital, Milan, Italy.
12: Department of Urology, La Croix du Sud Hospital, Toulouse, France; Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.

Abstract

Prostate cancer (PCa) remains the most common cancer in men. The proportion of all PCa attributable to high-risk hereditary factors has been estimated to 5-15%. Recent landmark discoveries in PCa genetics led to the identification of germline mutations/alterations (eg. BRCA1, BRCA2, ATM or HOXB13), single nucleotide polymorphisms or copy number variations associated with PCa incidence and progression. However, offering germline testing to men with an assumed hereditary component is currently controversial. In the present review article, we provide an overview about the epidemiology and the genetic basis of PCa predisposition and critically discuss the significance and consequence in the clinical routine. In addition, we give an overview about genetic tests and report latest findings from ongoing clinical studies. Lastly, we discuss the impact of genetic testing in personalized therapy in advanced stages of the disease.