Study Suggests Men Should Also Be Screened for the 'Breast Cancer Gene'

According to a recent study published in the journal JAMA Oncology, men face risks of cancer from BRCA1 and BRCA2 genetic mutations that are most often associated with breast and ovarian cancers in women.

The study reviewed the most recent screening and treatment guidelines for men carrying an inherited damaging variant in two genes, BRCA1 and BRCA2. The review included updated recommendations for males with a family history of cancer and other risk factors that could help them, and their doctors understand cancer risks.

Men account for 50% of BRCA1/2 carriers and have an increased risk for prostate and other cancers; however, the current rate of testing for men is only one-tenth of the rate for women.

Because genes are inherited from generation to generation, there is a fifty percent chance that a male carrier of a BRCA1 or BRCA2 mutation shares this mutated gene with their biological offspring. The earlier people are aware of the possibility of carrying a BRCA1 or BRCA2 mutation, the more their medical care can be personalised and tailored to their specific situation: a hallmark of the promise of personalised medicine.

Despite the increased cancer risk for BRCA1 or BRCA2-carrying males, national guidelines on genetic testing and cancer screening have been slower to emerge for males, and national guidelines are now beginning to include more specific measures for males.

With less public awareness of the risk for males carrying BRCA1 or BRCA2 mutations, physicians and other healthcare professionals may not always be aware of the most up-to-date screening recommendations, which may exist in different places.

Screening men for BRCA1/2 mutations is crucial because these genetic variants, while often associated with breast cancer in women, also increase the risk of various cancers in men, including prostate and pancreatic cancer. Identifying BRCA1/2 mutations in men allows for early intervention, personalised monitoring, and preventive measures, which can significantly improve health outcomes and guide family planning.

Reference: Cheng HH, Shevach JW, Castro E, et al. BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review. JAMA Oncol. Published online July 25, 2024. doi:10.1001/jamaoncol.2024.2185