More than the 'Angelina Jolie Effect': BRCA testing spikes among breast cancer patients

Search for gene mutations began rising before actress revealed surgeries; better insurance coverage, access cited by experts
Brooke Bess and family
Brooke Bess, who tested positive for a BRCA1 mutation after her breast cancer diagnosis, with husband, Brendan, and daughters, Addison, 8, and Camille, 5. Courtesy of Brooke Bess

The science teacher didn’t need to hear about Angelina Jolie Pitt’s famous choice before making her own move. She didn’t even need much time to think it over. She only needed, well, science.

Two months after her breast cancer diagnosis, Brooke Bess underwent genetic testing. It showed the high school instructor is positive for a BRCA1 mutation, boosting her odds for breast and ovarian cancers — and influencing her to undergo a bilateral mastectomy and hysterectomy in 2015.

“I can handle biology. I can handle knowing why this happened. I can’t handle just having bad luck or constantly wondering if it was because I microwaved plastic dishes or drank bad water,” said Bess, 36, who lives in central Florida.

“As a cancer survivor, I cringe when I hear people refer to [BRCA] as the ‘Angelina Jolie gene’ because a lot of people don't realize that everyone has the gene. Men, women, children. It's the actual mutation that causes the problem,” she added. “[But] as a science teacher, I appreciated having a recognizable face to refer to when discussing mutations and their implications on personal health decisions.”

The frequency of testing for abnormal BRCA1 and BRCA2 genes has vastly increased in recent years among women diagnosed with breast cancer at 40 or younger, researchers reported Thursday.

Among the study group of 897 women aged 40 and younger, 96.6 percent of those diagnosed with breast cancer in 2012 underwent subsequent BRCA testing. In contrast, only 70.2 percent of participants diagnosed with breast cancer in 2007 later had BRCA testing, according to the paper, published in JAMA Oncology. The research, led by Dana-Farber Cancer Institute, included women from 11 academic and community medical centers.

Angelina Jolie Pitt
Angelina Jolie Pitt Yoshikazu Tsuno / Getty Images file

The authors theorized "the Angelina Jolie effect" might be one driver. In 2013, the actress and filmmaker revealed her choice to have a preventative double mastectomy because she’d tested positive for a mutation. In 2015, she had her ovaries removed for the same reason.

The authors also suggested, however, that the high rate of BRCA testing among their research participants was likely due to the fact that most of the participants were insured, educated, and treated at centers with comprehensive gene-testing services.

Oncologists are increasingly recognizing the increased chance of inherited breast cancer risk in young women, said Dr. Julie Gralow, a clinical researcher at Fred Hutchinson Cancer Research Center and a breast cancer oncologist at Seattle Cancer Care Alliance, the treatment arm of Fred Hutch.

“The fact is that the incidence of testing was rising prior to Angelina Jolie's disclosure, but there is no question that she created awareness globally, maybe most importantly among women not yet diagnosed but with a strong family history,” Gralow said. “… In my mind, the genetic counseling piece of this is critical, and I always refer for genetic counseling as part of genetic testing.”

“Currently, the guidelines do recommend (genetic) testing for women under 40 with a diagnosis of breast cancer. So I think it’s appropriate that that is being better recognized,” added Dr. Larissa Korde, a Fred Hutch breast cancer researcher and medical oncologist at the University of Washington and SCCA.

In addition, there’s has been some easing of insurance coverage for BRCA testing, doctors say. That shift seems fueled, in part, by a 2013 U.S. Supreme Court decision that human genes are not patentable, but synthetic DNA, or cDNA, is patentable. The ruling is widely considered a win for patients seeking more access to genetic exams.

“That’s really expanded our options for offering patients gene testing at a price that is still high, but it brought a lot more attention to the issue and gave people different options for attention which has been a good thing,” Korde said.

The dangers of carrying an abnormal BRCA gene are well documented. About 55 to 65 percent of women with a harmful BRCA1 mutation and about 45 percent of BRCA2 women will be diagnosed with breast cancer by age 70, according to the National Cancer Institute.

By some estimates, 39 percent of women who inherit a BRCA1 mutation — and 11 to 17 percent of women who have an abnormal BRCA2 gene — will develop ovarian cancer by age 70, the NCI reports. Ovarian cancer occurs in about 1.3 percent of women in the general population.

In the new study, women with breast cancer who tested positive for a BRCA mutation seemed to use that information to shape their treatment plan. Among participants found to have an abnormal BRCA gene, 86.4 percent opted to have both breasts surgically removed (compared to 51.2 percent of BRCA-negative participants). And 53.4 percent of BRCA-positive women in the study opted have their ovaries removed (versus 2.5 percent who didn’t carry the mutation), researchers reported.

“The majority of these women said that it affected whether or not they underwent a unilateral mastectomy or lumpectomy followed by radiation or a bilateral mastectomy,” said Dr. Ann H. Partridge, study co-author and an oncologist at Dana-Farber. 

For women (or men) who have not been diagnosed with breast cancer, the NCI recommends genetic testing should only be done when a family history shows “the possible presence of a harmful mutation in BRCA1 or BRCA2.” That means, people who come from a lineage that contains cases of breast, ovarian, fallopian tube or peritoneal cancers.

In the home and classroom of teacher Bess, she’s primarily looking forward genetically — into the future lives of her two daughters, Addison, 8, and Camille, 5.

But she and they will have to wait to find out if they carry the same mutation. Bess’s genetic counselor told her BRCA testing is not recommended for anyone until age 18, at the earliest.

“Honestly, when I was first given my diagnosis, the first words out of my mouth were: ‘What about my girls? What have I done to them?’ Bess said. ”That’s immediately where my brain went. It makes me sad as a mother.”

Partridge stressed the importance of counseling anyone who tests positive for the BRCA mutations and making sure the patient understands her options.

“It’s imperative that we not only help women to get this information but that we also counsel them,” she said in a video released in conjunction with the study, “to help to support them as they make these treatment decisions especially in the context of a newly diagnosed patient who is stressed and anxious and needs to have good communication with her providers and good support.” 

Brooke Bess and family
Brooke Bess and her family Courtesy of Brooke Bess

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Bill Briggs is a former Fred Hutch News Service staff writer. Follow him at @writerdude. Previously, he was a contributing writer for and, covering breaking news, health and the military. Prior, he was a staff writer for The Denver Post, part of the newspaper's team that earned the Pulitzer Prize for coverage of the Columbine High School massacre. He has authored two books, including "The Third Miracle: an Ordinary Man, a medical Mystery, and a Trial of Faith." 

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