If you thought that BRCA genetic testing was just for women, please reconsider.
Having a mutation on the BRCA1 or BRCA2 gene, the kind that actress Angelina Jolie has, significantly increases a woman’s chance of developing breast and ovarian cancer during her lifetime compared to the general population.
Most people don’t think about it, but men can carry the BRCA1/2 mutations too, and it confers some serious health risks for them. Having a BRCA1/2 mutation increases a man’s risk for developing prostate cancer. Having a BRCA2 mutation increases a man’s risk of melanoma and pancreatic cancer and breast cancer as well.
It also impacts their daughters’ genetic outlook because fathers pass down the BRCA genetic mutation at the same rate as mothers do (There is a 50-50 chance that a son or daughter will inherit the mutated gene when a parent has the mutated gene.)
So should certain men have BRCA genetic testing? Yes, they definitely should.
Today, we recommend men see a genetic counselor to discuss whether BRCA testing is appropriate with the following considerations:
What happens when a female family member tests positive for one of the BRCA1/2 gene mutations?
Most women don’t immediately think about their fathers, brothers or sons undergoing genetic testing. But all first-degree adult relatives, including men, of a woman (or a man) who has tested positive should also undergo genetic counseling and seriously consider testing for the mutation that runs in their family.
It also means that she will be at risk for BRCA1/2-associated cancers and she and her physicians will need to look after her in a gene-informed way.
A man with an alteration in the BRCA2 gene faces about a 10 percent lifetime risk of developing male breast cancer compared to 0.5 percent in the general population. With a BRCA1 mutation, his risk is lower, about one in 100. BRCA2 mutations also confer a high risk of pancreatic cancer and prostate cancer.
Mutations in BRCA genes are most often found in families with many cases of breast and/or ovarian cancer. But this is not always the case.
The mutations can also occur in men with breast cancer who do not have a strong family history.
Recent research shows a stronger association between high-grade prostate cancer and germline alterations in BRCA1/2 than previously thought, plus worse outcomes. So the call to arms — and we are still discussing this with our urology and oncology colleagues — is whether every man with advanced, metastatic prostate cancer should have genetic counseling and testing for BRCA1/2.
Another study showed that African American men with prostate cancer may be more likely to have germline mutations in the BRCA1/2 genes than Caucasian men with prostate cancer. The researchers suggest that genetic testing could help in planning the best treatment.
Other researchers suggest that certain men diagnosed with male breast cancer should also undergo screening for prostate cancer because of a possible association between the two diseases.
We need more research into how a BRCA1/2 mutation impacts a man’s risk of prostate cancer, especially the more aggressive forms of this disease.
The decision to have testing for BRCA1/2 gene mutations is not an easy one to make, and women have been grappling with this for more than two decades. However, over the last two decades, many women have found that knowing one’s gene status is empowering because knowing which gene is involved can precisely direct and personalize medical management.
We know what positive results can mean — decisions about preventive surgery and treatments and the difficulty of sharing results with family members. The decision may be even harder for men.
But I urge men who have known BRCA mutations in their family, who have been diagnosed with male breast cancer, who may be at high risk for breast or prostate cancer, or who find themselves in any of the circumstances mentioned above, to discuss genetic testing with their healthcare provider and ask for a referral to genetic counseling.