Oncologists, primary care clinicians should be aware of BRCA testing indications in men
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Key takeaways:
- BRCA testing is underutilized among men.
- Men with BRCA mutations are at greater risk for breast, pancreatic or prostate cancers.
Greater utilization of genetic testing among men could have considerable benefits with regard to detection, risk management and personalized treatment of cancers, according to authors of a review published in JAMA Oncology.
“The burden of hereditary cancer can be greatly reduced if oncologists, primary care providers and internists are actively involved in offering appropriate genetic testing to men,” Kara N. Maxwell, MD, PhD, assistant professor of medicine and genetics at University of Pennsylvania’s Perelman School of Medicine, and colleagues wrote.
“We hope by increasing awareness of BRCA testing amongst all people, including men, a 60-year old woman diagnosed with ovarian cancer will not be the first indication that a family has a BRCA mutation,’” Maxwell, who also serves as director of the Men & BRCA program at Penn’s Basser Center for BRCA, told Healio. “Maybe we could prevent people from dying of hereditary cancer simply by asking all young adults, men and women, about their family history and sending genetic testing when appropriate.”
Considerable evidence supports the elevated risk for breast or ovarian cancer incidence and mortality among BRCA1/BRCA2 mutation carriers, and guidelines have been established for treatment of women who carry BRCA1/BRCA2 pathogenic variants.
However, half of BRCA carriers are men. Testing rates among men are 85% to 90% lower among men than women, even though these variants increase risk for prostate, pancreatic and male breast cancers.
Maxwell and colleagues conducted a literature review to emphasize the importance of genetic testing for men.
“The ripple down effect to knowing that you have a BRCA mutation in your family is massive,” she said. “Even if the test results never affect the man himself and he never develops cancer, every person in his family will benefit.”
Background
Approximately one in 250 individuals in the U.S. carry a BRCA mutation, according to background information provided in the review.
About half of patients with breast cancer — male and female — or ovarian cancer have undergone BRCA mutation testing, compared with only 5% to 10% of men with advanced prostate cancer and less than 20% of men and women with pancreatic cancer.
Several factors have contributed to this disparity, such as misperceptions of cost or a lack of both providers and patients seeing the importance — especially in a more advanced setting)
“If you have a patient with one of these cancers, encouraging genetic testing goes a long way,” Maxwell said. “When a patient hears their oncologist say ‘I think genetic testing is important. You should do that, the patient is definitely more likely to do it.”
For patients without a cancer diagnosis, more women than men get genetic testing. This may be because most women get mammograms and visit gynecologists in addition to primary care physicians, so more providers have the opportunity to obtain family history and discuss the importance of genetic testing and cancer screening.
Other factors include financial costs — genetic tests could cost $250 out of pocket, Maxwell said — and the potential that testing results may affect a person’s insurance coverage.
Testing guidelines
Men should get tested for BRCA mutations if they or a family member have a personal history of male breast cancer, pancreatic cancer or prostate cancer that is high-risk localized, lymph-node positive or metastatic, Maxwell and colleagues wrote.
They also should get screened if a family member has a BRCA mutation, or if a first- or second-degree family member has early-stage triple-negative breast cancer, multiple primary breast cancers or ovarian cancer.
Other reasons for testing include Ashkenazi Jewish ancestry or having a first-degree family member with exocrine pancreatic cancer.
“These recommendations reflect the National Comprehensive Cancer Network guidelines,” Maxwell said.
Cancer risks
Prior studies showed men with a BRCA1 mutation can have up to a 3.8-fold increase in prostate cancer risk, equating to a lifetime risk between 15% and 45%, Maxwell and colleagues wrote.
One study showed men with a BRCA2 variant can have a 4.7- to 8.6-fold increase in prostate cancer risk, equating to a lifetime risk of 60% (95% CI, 43-78).
Men with a BRCA1 variant can have up to a 1.9-fold increase in pancreatic cancer risk — equating to a lifetime risk of 3% — while those with a BRCA2 mutation can have a 3- to 7.8-fold increase in pancreatic cancer risk, equating to a lifetime risk of 7%.
Lifetime risks for breast cancer are 1.2% for men with a BRCA1 mutation and 7% to 9% for those with a BRCA2 variant. Risk for men in the general population is 0.12%.
Several trials are underway to try to optimize screening, increase the likelihood of early detection and potentially allow for tailored management of cancer among BRCA1/BRCA2 carriers.
“It’s not just that cancer could be deadly, but that cancer treatment can have high morbidity for patients,” Maxwell said. “Being able to find that cancer earlier can have a significant impact on [a patient’s] life by decreasing the chance they will need therapies that can cause morbidity, such as androgen deprivation therapy for men with prostate cancer.”
Screening goals
To increase screening, Maxwell emphasized the need for greater awareness of the impact BRCA mutations can have on men.
Men could fill out questionnaires about family history with their primary care physician to determine if genetic testing is necessary.
It also could be addressed during the early stages of family planning.
“Many more couples are going for reproductive counseling,” Maxwell said. “There’s so much more awareness of genetic testing prior to conception. ... That could be another place where a provider could inquire about a cancer family history suggestive of BRCA1 and BRCA2. There are very rare genetic syndromes that can occur when both partners are carriers so it is relevant to inquire at the time of family planning.”
If oncologists tested 80% of their male patients with breast, pancreatic or prostate cancers for BRCA mutations, it could have a considerable impact, Maxwell said.
“I’d love it to be 100%, but we know not everyone’s going to be able to get tested — and not everyone is going to want to,” she said. “But, If you can give that as your goal to yourself for your [patients with cancer], think about all of the family members who will be helped down the line.”
References:
- Cheng HH, et al. JAMA Oncol. 2024;doi:10.1001/jamaoncol.2024.2185.
- Lau-Min KS, et al. J Natl Compr Canc Netw. 2023;doi:10.6004/jnccn.2022.7257.
- Shevach JW, et al. J Natl Compr Canc Netw. 2024;10.6004/jnccn.2023.7105.
For more information:
Kara N. Maxwell, MD, PhD, can be reached at kara.maxwell@pennmedicine.upenn.edu.
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