About 1 in 8 women will be diagnosed with breast cancer in her lifetime. But the proportion who develop the common cancer as a result of a genetic mutation — namely to the BRCA1 or BRCA2 genes — is significantly smaller.
These genes normally produce proteins to help suppress tumor growth, and damage to the genes increases the risk of a woman developing breast cancer and ovarian cancer. However, while testing for the mutation in some women may be helpful, experts say for most it’s not necessary. Only about 5 to 10 percent of those with breast cancer have a BRCA1 or BRCA2 mutation, notes Dr. Jennifer Litton, an associate professor of breast medical oncology at the University of Texas MD Anderson Cancer Center. As more young women seek BRCA testing, clinicians are trying to ensure patients understand when the testing is recommended. Amid the increased focus on genetic testing, including in media coverage of cancer, many patients who’ve been diagnosed with breast cancer, for example, errantly assume they must have the genetic mutation, Litton says.
Since cancer can spread more rapidly in individuals with the genetic mutations, clinicians encourage patients with a family history of certain types of cancers — such as breast and ovarian — who are deemed to be candidates for BRCA testing to get it done. But experts say that important distinctions laid out in much more detail in the U.S. Preventive Service Task Force’s recommendations on BRCA testing are sometimes lost in the hullabaloo over genetic testing.
[See: A Tour of Mammographic Screenings During Your Life.]
BRCA Testing Recommendations
The USPSTF recommends that primary care doctors screen women who have family members with breast, ovarian, tubal or peritoneal cancer using one of several family history assessment tools, which are designed to determine whether a person’s family health history puts them at increased risk for BRCA1 or BRCA2 mutations. The screening tools essentially count the number of a person’s relatives who have types of cancers linked to BRCA mutations and take note of family members who developed cancer at a younger age, explains Dr. Kirsten Bibbins-Domingo, a professor of medicine and epidemiology at the University of California–San Francisco, practicing general internist and chair of the USPSTF. “While breast cancer is common particularly as women age [and] prostate cancer is very common, for example, as men age, having these types of cancers earlier in life is much more suggestive of a hereditary risk,” she says. Women found to screen positive for higher risk of these mutations should receive genetic counseling and BRCA testing, the task force recommends.
The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history isn’t associated with a higher risk of BRCA1 or BRCA2 mutations. “The strategy for using the screening tools first to identify women in whom a BRCA-positive test might be more likely is that it reduces the number of false positive or false negative tests,” Bibbins-Domingo says. “So the burden for just doing this in everyone is that you increase the likelihood of having false tests, which then require additional workups and then, in the rare cases, potentially treatments that are not indicated.”
[See: What Not to Say to a Breast Cancer Patient.]
The Angelina Jolie Effect
Research published in the BMJ in December finds many women appeared to have undergone unnecessary testing following a 2013 New York Times Op-Ed by Angelina Jolie in which she urged women to consider BRCA testing. The actress shared publicly that she’d decided to undergo a preventive bilateral mastectomy — or breast removal surgery — after testing positive for a BRCA1 mutation and given her family history of cancer.
“Our basic interest was trying to understand whether or not celebrity endorsements can actually influence health care decision-making,” says Dr. Anupam Jena, an associate professor of health care policy and medicine at Harvard Medical School and co-author of the BMJ research. In fact, public personalities are shown to have a big impact on health behaviors, and Jolie is no different. In the days immediately following her editorial, rates of testing for BRCA mutations increased about 65 percent, Jena says, based on looking at a national sample of women with private insurance. The rates continued to be elevated, as compared with the time period immediately before the editorial, for the remainder of the year. “We weren’t aware of anything else in terms of ad campaigns or awareness campaigns that happened to occur around the same time,” Jena says, regarding whether alternative factors might have accounted for the spike.
Yet while screening rates shot up, mastectomy rates basically remained flat. “What that suggests is that the women who were induced to get testing as a result of reading The New York Times editorial were probably at very low risk of actually harboring the genetic mutation,” Jena says. “So unsurprisingly, they most likely did not test positive for the mutation, and that’s why we didn’t see an increase in mastectomies rates.” The exercise was financially costly as well. “We estimated that in those two weeks following Jolie’s editorial alone, there was about $14 million in increased health care spending, without measurable improvement in patient outcomes,” he says.
BRCA Testing in Patients Diagnosed With Breast Cancer
Despite concerns about unnecessary testing, clinicians emphasize BRCA testing can be invaluable not only as a targeted screening tool, but also as a way to improve treatment in some patients diagnosed with breast cancer. “It certainly can influence what patients may or may not decide to do surgically. Because if you’re young — say you’re a 35-year-old woman with a BRCA mutation — your chance of getting a second unrelated breast cancer may be quite high,” Litton says. “So they may choose to do bilateral mastectomies in that case.”
For women who opt to undergo a lumpectomy to remove the cancer or abnormal tissue from the breast, knowing they’ve tested positive for a BRCA mutation provides invaluable information on how to monitor their future breast cancer risk, too. “The recommendation would be high-risk screening following the breast cancer diagnosis through breast MRIs and mammograms yearly,” says Dr. Tuya Pal, a clinical geneticist at Moffitt Cancer Center in Tampa, Florida.
In addition, certain drugs, like so-called PARP inhibitors, are currently being tested in clinical trials to treat BRCA-associated cancer. And since being BRCA positive also puts a woman at higher risk for developing ovarian cancer, some may choose to have their ovaries and fallopian tubes removed — called a prophylactic oophorectomy or salpingo-oophorectomy — to prevent ovarian cancer.
[See: 7 Innovations in Cancer Therapy.]
While BRCA testing isn’t always covered by insurance, Pal notes the cost has decreased significantly to as little as $200 to $300 for BRCA1, BRCA2 and other genetic testing combined today, making it an option for more patients. “People need to make an informed decision,” Pal says. That means knowing all the facts and working with a doctor and genetic professional — if warranted — to determine whether to move forward with BRCA testing, experts say. Ultimately, given all the information and input from clinicians, Pal stresses, it’s the patient’s choice to make.
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Why Most Women Shouldn’t Undergo BRCA Testing for Breast Cancer Risk originally appeared on usnews.com
