Since then, researchers have increasingly found that BRCA1 and BRCA2 mutations have important implications for men. The defects, while rare, are linked to aggressive prostate cancer and a higher risk of pancreatic cancer and melanoma. Here are some frequently asked questions about men and BRCA mutations.
How do I know if I should consider genetic testing?
Any man who develops breast cancer should get tested, says Bruce Montgomery, an oncologist at the Seattle Cancer Care Alliance/University of Washington Medical Center. Other men who should undergo counseling, and perhaps testing, include those with a family member with a BRCA mutation, or a close relative with ovarian cancer or a male relative with breast cancer.
You should also consider testing if you have two or more female relatives who got breast cancer at any age on the same side of the family, or one who developed breast cancer before 50, said Mary Freivogel, a genetic counselor in Denver who is the president-elect of the National Society of Genetic Counselors.
If you are Ashkenazi Jewish, your threshold for getting genetic counseling and testing should be much lower, Freivogel said, because BRCA defects are 10 times more common in that ethnic group than in the general population. Consider testing if you meet any of the above criteria or have a relative on either side of the family with breast or ovarian cancer at any age.
Genetic counselors and physicians generally follow guidelines from the National Comprehensive Cancer Network, an alliance of 27 leading cancer centers, though there are times they go beyond them.
What does genetic counseling involve?
Since one of the goals is to figure out whether genetic testing is appropriate, counselors will help you put together a detailed family medical history. If BRCA mutations are suspected, they'll be especially interested in any information about breast, ovarian, pancreatic and prostate cancer, as well as melanoma. They'll also discuss the potential psychological impact of finding a mutation, and how such information should be conveyed to other family members, including siblings and children, who have a 50 percent chance of having the defect.
Will my health insurance pay for testing?
Insurers generally pay for testing for men who meet the cancer-network guidelines. But it's not a sure thing and it can be expensive, so check with your insurer. Genetic counselors and doctors' offices can help in determining what individual insurers pay.
Another topic to discuss with your counselor: Life insurance. Federal law bars genetic discrimination by health insurers and employers based on their DNA information — you can't be fired or have your rates increased — but the law doesn't cover life, disability or long-term-care insurance. Some states prohibit genetic discrimination by these insurers.
Who does the testing and what does it entail?
There are different blood and saliva tests available for potential breast-cancer gene mutations. Some look only for a defect that has already been identified in your family, while others examine your DNA for all possible BRCA1 and BRCA2 defects.
Nurses or doctors can take the sample and send it to a lab for analysis. There are also a growing number of direct-to-consumer genetic tests that can be bought online; in those cases, consumers send in the sample. Experts have mixed views about these products; some say this alternative will allow more consumers to get tested at affordable rates, while others say it could lead to too much testing. It's a good idea to talk to a genetic counselor no matter what kind of testing you do because the results can sometimes be hard to interpret.
If I have a BRCA mutation, what happens next?
Many men who have a BRCA mutation won't ever develop cancer. But if you do have a BRCA1 or BRCA2 defect, your doctors will recommend stepped-up surveillance for specific cancers. To check for prostate cancer, for example, you should start undergoing screening — including getting a PSA test — at age 40, doctors say.
You'll also want to alert your relatives, a process that can be difficult since some family members might not want to know about their increased risk.
Who else can help?
You might want to contact FORCE, a group designed for women and families with inherited breast cancer. And if you have male breast cancer, you might want to get in touch with the Male Breast Cancer Coalition.