The Importance of Screening Men for the Breast Cancer Gene

male breast cancer © Vitalii Vodolazskyi - stock.adobe.com

Breast cancer gene mutations BRCA1 and BRCA2 are commonly associated with breast cancer in women, but new research shows that the presence of these mutations can also be an indication of cancer in men. However, due to underdeveloped screening guidelines for men and an overall lack of awareness from patients and providers, men undergo testing for the gene variant at one-tenth the frequency of women, according to a study published last month in JAMA Oncology.

BRCA1 and BRCA2 genes repair cell DNA every time they divide. A malfunction can lead to the uncontrolled growth of cells, which is a hallmark of cancer.

Up to 72% of women with these gene mutations develop breast cancer by age 80. Among men who carry the BRCA mutations, the risk of breast cancer rises 7% to 9%, compared with less than 0.02% in the general population. For pancreatic cancer the risk is up to 7%. The risk of prostate cancer is even higher – up to 60%.

“Identifying more male carriers of BRCA1/2 will maximize opportunities for cancer early detection, targeted risk management, and cancer treatment for males, along with facilitating opportunities for risk reduction and prevention in their family members, thereby decreasing the burden of hereditary cancer,” lead author and director of the Fred Hutch Prostate Cancer Genetics Clinic Heather H. Chang, M.D., Ph.D., writes in the study. “Oncologists, internists, and primary care clinicians should be vigilant about offering appropriate genetic testing to males.” Common genetic testing methods use saliva or blood samples.

Physicians are encouraged to ask their male patients about their family history of cancer and should encourage genetic testing.

According to the study, the National Cancer Center Network recommends the following for men:

• Breast self-exams starting at age 35.
• Clinical breast exams starting at age 35.
• Considering a yearly mammogram for BRCA1/2 carriers starting at age 50 or 10 years before the age of diagnosis of male breast cancer in the family.

Screening mammography in men has been shown to have a similar cancer detection rate as in females, with about 5 cancers detected out of 1,000 exams, previous research published in Breast Cancer Research and Treatment shows.

The American Cancer Society estimates that in 2024, 530 men will die from breast cancer. At the time of diagnosis, men are 72 years old on average. The average lifetime risk of a man developing breast cancer is 1 in 726.

Gynecomastia, or the excessive growth of breast tissue in males, is not listed as a risk factor for male breast cancer.