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Review
. 2023 Apr;20(4):205-216.
doi: 10.1038/s41585-022-00680-4. Epub 2023 Jan 4.

Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations

Pawel Rajwa  1   2 , Fahad Quhal  1   3 , Benjamin Pradere  1 , Giorgio Gandaglia  4 , Guillaume Ploussard  5 , Michael S Leapman  6 , John L Gore  7 , Andrzej Paradysz  2 , Derya Tilki  8   9   10 , Axel S Merseburger  11 , Todd M Morgan  12 , Alberto Briganti  4 , Ganesh S Palapattu  12 , Shahrokh F Shariat  13   14   15   16   17   18   19
Affiliations
Review

Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations

Pawel Rajwa et al. Nat Rev Urol. 2023 Apr.

Abstract

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.

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