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

TY - JOUR

T1 - Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations

AU - Rajwa, Pawel

AU - Quhal, Fahad

AU - Pradere, Benjamin

AU - Gandaglia, Giorgio

AU - Ploussard, Guillaume

AU - Leapman, Michael S

AU - Gore, John L

AU - Paradysz, Andrzej

AU - Tilki, Derya

AU - Merseburger, Axel S

AU - Morgan, Todd M

AU - Briganti, Alberto

AU - Palapattu, Ganesh S

AU - Shariat, Shahrokh F

N1 - © 2023. Springer Nature Limited.

PY - 2023/4

Y1 - 2023/4

N2 - 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.

AB - 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.

U2 - 10.1038/s41585-022-00680-4

DO - 10.1038/s41585-022-00680-4

M3 - SCORING: Review article

C2 - 36600087

VL - 20

SP - 205

EP - 216

JO - NAT REV UROL

JF - NAT REV UROL

SN - 1759-4812

IS - 4

ER -