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What does a BRCA gene mutation mean for men?

BRCA mutation
With all the awareness around breast cancer these days, lots of attention has been focused on the risks posed by BRCA gene mutations. But many people mistakenly believe that BRCA is only a concern for women, even though men are just as likely as women to have a BRCA mutation.

With all the awareness around breast cancer these days, lots of attention has been focused on the risks posed by BRCA gene mutations. But many people mistakenly believe that BRCA is only a concern for women, even though men are just as likely as women to have a BRCA mutation. “Because men have a much lower risk than women of developing cancer due to a BRCA mutation, they are less likely to be tested for the mutation,” says Melanie Corbman, Genetic Counselor at our hospital in Philadelphia. “Men may have a BRCA mutation but never know it.” Learning about this genetic factor is important, for two reasons: Men are not only potential carriers who may pass the mutations onto their children, but BRCA mutations have also been linked to a higher incidence of some cancers in men.

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

What does BRCA-positive mean?

Being BRCA positive is not the same as getting a cancer diagnosis, but it greatly increases the risk of developing the disease, especially in women. Concerns about the higher risk prompted actress Angelina Jolie to get tested for the mutation, and when she tested positive, she decided to have her breasts and ovaries removed as a prophylactic approach. 

Jolie’s actions brought genetic testing for hereditary cancers into the limelight, but discussion of how the mutations may also impact men has been limited. Although only 1 percent of all breast cancers occur in men, a BRCA mutation increases the risk of developing the disease, particularly for men with BRCA2. Being BRCA positive also raises a man’s chance of developing pancreatic cancer, melanoma, as well as a more aggressive form of prostate cancer.   

About 12 percent of men with metastatic prostate cancer—roughly 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.

Having a BRCA mutation has additional testing and treatment implications for men. For starters, they should be screened for prostate and breast cancers at an earlier age than men with average risk factors. The National Comprehensive Cancer Network (NCCN) recommends men with BRCA mutations begin breast self-exams and annual clinical breast exams at age 35. NCCN also recommends prostate cancer screening for BRCA mutation carriers beginning at age 40.

“There's a possibility that someone could undergo prostate cancer screening in his 30s, especially if he has a family history of prostate cancer,” says Altovise Ewing, Genetic Counselor at our hospital near Atlanta. “It would be appropriate for that person to start his screenings 10 years before the age of the earliest onset of prostate cancer in his family.”

BRCA and men

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

  • Have a personal or family history of male breast cancer
  • Have a personal or family history of at least two men with aggressive prostate cancers (Gleason score of 7 or higher)
  • Have a personal or family history of pancreatic cancer and one or more relatives with breast, ovarian and pancreatic cancer
  • Have a family history of ovarian cancer; female relatives who developed breast cancer at a young age (earlier than 50) or who developed multiple primary breast cancers; or three or more female relatives with breast cancer at any age
  • Have a family history of breast, ovarian, pancreatic, prostate cancer or melanoma
  • Are of Ashkenazi Jewish descent and have a personal history of breast, ovarian or pancreatic cancers, aggressive prostate cancer, or melanoma
  • Have a known family history of a BRCA1 or BRCA2 mutation

If you do meet with a genetic counselor, he or she will collect a personal and family medical history in the initial meeting to determine whether genetic testing may be a good option. If recommended, genetic testing is typically performed with a blood or saliva test. “Genetic testing is an option that's available to individuals,” says Ewing. “As genetic counselors, we believe that individuals make the best decisions for themselves, and it's our job to help facilitate that decision-making process.”