Dr Maxwell on Cancer Risk for Males Carrying Germline BRCA Mutations

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Kara N. Maxwell, MD, PhD, assistant professor of medicine (hematology-oncology), Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, discusses the risk of developing cancer for males carrying germline BRCA1 and BRCA2 mutations.

In research published in JAMA Oncology, Maxwell and colleagues found that despite males being equally as likely to harbor germline BRCA mutations, a lower proportion of males undergo cancer genetic testing compared with the female population.

Maxwell begins by highlighting the increased risk of various cancers for males who harbor BRCA mutations. She explains that the risk of breast cancer over the course of a lifetime for a male carrying a BRCA1 mutation is approximately 5%, and she notes that this represents a significant increase compared with the general male population, where the risk is approximately 0.1%. Although the 5% risk for males carrying germline BRCA1 mutations is lower than the 60% to 80% risk of developing breast cancer for female carries, this elevated risk in males underscores the need for awareness and potential screening strategies, Maxwell says.

Furthermore, males who carry BRCA1 mutations face increased risks for pancreatic and prostate cancers. The risk for these cancers is higher for those carrying BRCA2 mutations; however, Maxwell says that the increased risk for carries of either mutation is clinically significant. She notes that the risk of pancreatic cancer in those with BRCA1 or BRCA2 mutations is estimated to be between 3% and 5%, affecting both male and female patients equally. This highlights the necessity for vigilance and potential early detection strategies in male carriers, she says.

For men with BRCA2 mutations, the highest cancer risk is prostate cancer, with a lifetime risk potentially reaching up to 50%, Maxwell continues. This contrasts with the somewhat lower prostate cancer risk observed in BRCA1 carriers, she adds. The wide range in risk estimates for prostate cancer in males harboring BRCA2 mutations reflects the variability and the current limitations in data regarding specific cancer risks in this population, Maxwell explains.

Additionally, Maxwell highlights the challenges in understanding the full spectrum of cancer risks for male carriers of BRCA mutations due to the limited data currently available. She underscores the importance of ongoing research to better quantify these risks and inform clinical management.