What does a BRCA gene mutation mean for men?

With all the awareness of breast cancer these days, a lot of attention has been paid to the risks posed by BRCA gene mutations. But many people mistakenly believe that BRCA is a concern for women only, even though men are just as likely to have a BRCA mutation as women. “Because men are at much lower risk than women of developing cancer from a BRCA mutation, they are less likely to be tested for the mutation,” says Melanie Korpman, a genetics counselor at our Hospital in Philadelphia. “Men can have a BRCA mutation, but they never know it.” Knowing this genetic factor is important for two reasons: Not only are men likely carriers of mutations to their children, but BRCA mutations have also been linked to a higher incidence of some cancers in men.

Fathers transmit the altered BRCA gene at the same rate as mothers. When a parent carries the mutated gene, they have a 50 percent chance of passing it on to a son or daughter. “The decision to get tested can be very difficult for some men,” Korpman says. “It’s hard for them to learn that they can pass it on to their children.”

What does BRCA positivity mean?

Being BRCA positive is not the same as being diagnosed with cancer, but it does significantly increase the risk of developing the disease, especially in women. Concerns about the increased risk led actress Angelina Jolie to be tested for the mutation, and when she tested positive, she decided to have her breasts and ovaries removed as a preventative method.

Jolie’s actions have shed light on genetic testing for inherited cancers, but discussion about how the mutations affect men, too, has been limited. Although only 1 percent of all breast cancers occur in men, a BRCA breast cancer mutation increases the risk of the disease, especially for men with BRCA2 breast cancer. Being BRCA-positive also increases a man’s likelihood of developing pancreatic cancer, melanoma, as well as a more aggressive form of prostate cancer.

About 12 percent of men with metastatic prostate cancer, about one in eight, carry a BRCA mutation, a 2016 New England Journal of Medicine study found. This is a higher rate than the percentage of women with breast cancer who carry a BRCA mutation.

The presence of a BRCA breast cancer mutation has additional implications for testing and treatment for men. First of all, prostate and breast cancer should be screened at an earlier age compared to men with intermediate risk factors. The National Comprehensive Cancer Network (NCCN) recommends that men with BRCA mutations begin annual breast exams and clinical breast exams at age 35. The NCCN also recommends prostate cancer screening for BRCA mutation carriers age 40 or older.

“There is a chance that someone will be screened for prostate cancer in their 30s, especially if they have a family history of prostate cancer,” says Altovise Ewing, a genetics counselor at our hospital near Atlanta. “It would be appropriate for this person to begin screening 10 years before the age of first appearance of prostate cancer in their family.”

BRCA Wallridge

Men should consider seeing a genetic counselor or other medical professional to discuss their cancer risk and determine if they are candidates for BRCA and other genetic testing if:

• You have a personal or family history of male breast cancer.
• Having a personal or family history of at least two men with aggressive prostate cancer (Gleason score of 7 or higher)
• You have a personal or family history of pancreatic cancer and one or more breast, ovarian and pancreatic cancers.
• You have a family history of ovarian cancer. Relatives who have had breast cancer at an early age (before age 50) or who have had multiple primary breast cancer; Three or more female relatives diagnosed with breast cancer at any age
• You have a family history of breast, ovarian, pancreatic, prostate or skin cancer.
• They are of Ashkenazi Jewish descent and have a personal history of breast, ovarian, pancreatic, aggressive prostate or skin cancer.
• You have a known family history of a BRCA1 or BRCA2 mutation

If you meet with a genetic counselor, he or she will collect your personal and family medical history at the initial meeting to determine if genetic testing might be a good option. Genetic testing is usually done with a blood or saliva test, if recommended. “Genetic testing is an option for people,” says Ewing. “As genetic counselors, we believe that people make the best decisions for themselves, and it is our duty to help facilitate that decision-making.”