Mutations in the BRCA1 and BRCA2 tumour suppressor genes are associated with prostate cancer risk; however, optimal screening protocols for individuals with these mutations have been a subject of debate. Several prospective studies of prostate cancer incidence and screening among BRCA1/2 mutation carriers have indicated at least a twofold to fourfold increase in prostate cancer risk among carriers of BRCA2 mutations compared with the general population. Moreover, BRCA2 mutations are associated with more aggressive, high-grade disease characteristics at diagnosis, more aggressive clinical behaviour and greater prostate cancer-specific mortality. The risk for BRCA1 mutations seems to be attenuated compared with BRCA2. Prostate-specific antigen (PSA) measurement or prostate magnetic resonance imaging (MRI) alone is an imperfect indicator of clinically significant prostate cancer; therefore, BRCA1/2 mutation carriers might benefit from refined risk stratification strategies. However, the long-term impact of prostate cancer screening is unknown, and the optimal management of BRCA1/2 carriers with prostate cancer has not been defined. Whether timely localized therapy can improve overall survival in the screened population is uncertain. Long-term results of prospective studies are awaited to confirm the optimal screening strategies and benefits of prostate cancer screening among BRCA1/2 mutation carriers, and whether these approaches ultimately have a positive impact on survival and quality of life in these patients.

Department of Urology 2nd Faculty of Medicine Charles University Prague Czech Republic

Department of Urology and Division of Experimental Oncology Urological Research Institute IBCAS San Raffaele Scientific Institute Milan Italy

Department of Urology King Fahad Specialist Hospital Dammam Saudi Arabia

Department of Urology Koc University Hospital Istanbul Turkey

Department of Urology La Croix du Sud Hospital Quint Fonsegrives France

Department of Urology Medical University of Silesia Zabrze Poland

Department of Urology Medical University of Vienna Vienna Austria

Department of Urology University Hospital Hamburg Eppendorf Hamburg Germany

Department of Urology University Hospital Schleswig Holstein Lübeck Germany

Department of Urology University of Michigan Medical School Ann Arbor MI USA

Department of Urology University of Texas Southwestern Dallas TX USA

Department of Urology University of Washington Seattle Cancer Care Alliance Seattle WA USA

Department of Urology Weill Cornell Medical College New York NY USA

Department of Urology Yale School of Medicine New Haven CT USA

Division of Urology Hourani Center for Applied Scientific Research Al Ahliyya Amman University Amman Jordan

Institute for Urology and Reproductive Health 1 M Sechenov 1st Moscow State Medical University Moscow Russia

Karl Landsteiner Institute of Urology and Andrology Vienna Austria

Martini Klinik Prostate Cancer Center University Hospital Hamburg Eppendorf Hamburg Germany

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