A Review of BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients

This study focused on the often- overlooked health risks that men face when they carry inherited mutations in the BRCA1 and BRCA2

genes. While these genetic variants are commonly associated with a higher risk of breast and ovarian cancer in women, about half of all people who carry these mutations are men. However, the health risks for male carriers are not as widely known or addressed in medical care. Recent research has shown that men with BRCA1 or BRCA2 pathogenic variants areat a significantly increased risk of developing prostate cancer, as well as pancreatic cancer and, although less common, breast cancer. These cancers can be serious and life-threatening, making it just as important to recognize and manage these risks in male carriers as in female carriers.

The study reviewed existing data on cancer risk in men with BRCA1/2 pathogenic variants and explains how this knowledge is shaping new medical guidelines. It highlights that recent advances in cancer treatment, particularly targeted therapies such as PARP inhibitors, are now approved by the U.S. Food and Drug Administration (FDA) for treating cancers in patients with BRCA mutations. These treatments are available for breast, pancreatic, and prostate cancers and are relevant for both male and female patients. The growing availability of these personalized therapies shows how important it is to identify men who carry these mutations so they can receiveappropriate care if cancer develops.

In addition to treatment options, the article discusses the importance of early detection and screening in men with BRCA1/2 mutations. Although screening guidelines have long been established for women with these mutations, recommendations for men are relatively recent and continue to evolve. The study also highlights opportunities for men to participate in clinical trials, which can lead to better understanding and treatment in the future. Beyond their personal health, knowing a man’s BRCA status is also important for his family,as these gene mutations are heritable. Identifying male carriers can lead to early genetic testing and the development of prevention strategies for relatives who may also be at risk.

Despite all this, far fewer men than women get tested for BRCA mutations. This is often due to a lack of awareness—both among patients and healthcare providers—about the risks men face. The study urges oncologists, primary care doctors, and other health professionals to talk to male patients about genetic testing, especially those with a family history of cancer. Increasing genetic testing in men canlead to earlier detection, better treatment options, and more personalized care. It also gives families the chance to understand and reduce their inherited cancer risk. In summary, identifying more male BRCA1/2 carriers is crucial for improving cancer prevention, early diagnosis, and treatment, not only for individuals but also for their key to improving cancer prevention, early diagnosis, and treatment, not just forindividuals, but for their entire families.

JAMA Oncology 2024; 10(9):1272-1281