Thanks to actress Angelina Jolie's public announcement about her breast cancer treatment five years ago, there is broad public awareness about the value of gene testing to identify breast cancer risk associated with mutations in the BRCA genes. Since then, demand for BRCA genetic testing among women has increased.
Now researchers are finding growing evidence of strong links between prostate cancer in men and mutations in the BRCA 1, BRCA 2 and other genes. A groundbreaking study published in the New England Journal of Medicine in 2016 found mutations in those DNA-repair genes in 11.8% of men with metastatic prostate cancer, compared with 2.7% of men without a known cancer diagnosis.
But there's been no comparable spike in awareness of and demand for BRCA testing for risk of prostate cancer, the third-biggest cancer killer of U.S. men, causing nearly 26,730 deaths last year.
That's frustrating to cancer specialists and patient advocates who urge physicians and patients to consider testing. The National Comprehensive Cancer Network just updated its influential guidelines to recommend expanded genetic screening for prostate cancer. It's a diagnosis that will be received by 165,000 American men this year, according to the American Cancer Society.
Even if men were clamoring to be tested for prostate cancer risk, some major insurers don't cover the cost.
"There is limited awareness of the potential role or benefit of genetic counseling and testing for men with prostate cancer," said Dr. Veda Giri, director of the cancer risk assessment and clinical cancer genetics program at Thomas Jefferson University's Sidney Kimmel Cancer Center in Philadelphia. "Access to counseling and testing definitely needs to grow."
William Burhans, a scientist at Roswell Park Comprehensive Cancer Center in Buffalo, N.Y., personally experienced this knowledge gap. From his work, he knew evidence was emerging about ties between prostate cancer and genetic mutations. Soon after he was diagnosed with prostate cancer in 2013, he asked his oncologist to refer him to a genetic counselor. He thought the genetic information could help guide his treatment and inform his family members about their cancer risk.
Burhans' oncologist was skeptical but approved the referral in deference to his patient's expertise. After reviewing his family's history of prostate and other cancers, the counselor got prior authorization from Burhans' health insurer for a test of 28 genes. It found he was positive for a pathogenic mutation in the BRCA 2 gene, which has shown the strongest association among all gene mutations with aggressive prostate cancer as well as breast, pancreatic and ovarian cancer.
As a result, his insurer, Empire Blue Cross and Blue Shield, approved costly treatment for Burhans with olaparib, which researchers have found effective in treating patients with metastatic prostate cancer that no longer responds to hormone therapy.
In addition, his family members sought BRCA gene testing. One close relative who received a positive BRCA 2 finding underwent prophylactic surgery. He and his immediate family members now undergo frequent screenings for breast, ovarian and pancreatic cancer as well as melanoma.