Ellen Pollack knew she had a family history of breast cancer — her mother died of the disease 20 years ago. Still, Pollack hesitated to be tested for the BRCA gene mutations that would indicate whether she was at particularly high risk of developing breast cancer herself.
People with mutations in the BRCA genes are at significantly higher risk of breast cancer and ovarian cancer.
Pollack, chief information officer for UCLA Health Sciences, learned about the Women Informed to Screen Depending on Measures of Risk (WISDOM) study — which can include genetic testing for BRCA mutations — through her work. She started to sign up at the end of 2022, but left the application unfinished.
“It’s so interesting why your brain holds you back from doing this kind of stuff,” she says. “Knowing that I’m Ashkenazi Jew 100% (people of Ashkenazi Jewish heritage have greater likelihood of BRCA gene mutations), knowing my mom died of breast cancer, I still didn’t make myself do it.”
Until she finally did. And then everything changed.
Testing for genetic mutations
The WISDOM study is using genetic testing to help tailor cancer-screening recommendations based on a person’s individual risk profile. Some study participants are given a saliva test that looks for nine genetic mutations — including BRCA1 and BRCA2 — that can lead to an increased risk of breast cancer.
Pollack learned she tested positive for a BRCA1 mutation. Typically, about 13% of women will develop breast cancer in their lifetime. For women with a BRCA1 mutation, that number shoots up to 55% to 72%, according to the National Cancer Institute. For ovarian cancer, about 1.2% of women in the general population will develop the disease. In people with a BRCA1 genetic mutation, it’s 39% to 44%.
Learning about this kind of genetic predisposition to cancer risk can be stressful, says Arash Naeim, MD, PhD, UCLA Health’s principal investigator on the WISDOM study, adding that WISDOM researchers are analyzing data about the psychosocial effects of receiving such information.
“Anytime you do any testing, there’s always a certain amount of anxiety about what the results are going to show,” says Dr. Naeim, chief medical officer for clinical research at UCLA Health and a member of the UCLA Health Jonsson Comprehensive Cancer Center. “Genetic testing, in particular, is anxiety provoking, because you’re not 100% sure what you’ll do with the information. To be put into a position, all of a sudden, of having to be responsive to the result of a medical test when you’re otherwise feeling well can be stressful.”
The WISDOM study connected Pollack with a genetic counselor, who explained what the statistics meant for her based on her health and age. But even before they spoke, Pollack knew what she planned to do.
Choosing surgery
“Right out of the gate, I knew that I wanted to have whatever surgery I could to avoid getting cancer,” she says. “It’s hard to explain, but I sort of felt like I got a free pass. I felt like I had this opportunity to prevent the path of what happened to my mom.”
Surgery is not the only potential response to discovering one has mutations in the BRCA1 or BRCA2 genes. Participants in the WISDOM study who have these genetic mutations may be advised to have screenings more frequently or to have magnetic resonance imaging (MRI) in addition to regular mammograms.
“Everyone’s tolerance of risk is different,” Dr. Naeim says. “Some people have very low tolerance for risk and want to eliminate it and tend to want to manage it in a more aggressive manner. Other people might be able to live with risk but might be more vigilant in surveillance because they know they have additional risk.”
It’s an individual decision, he says, based on what makes sense for each person’s health and psychological well-being.
Shortly after learning about her genetic profile, Pollack started calling her doctors and taking steps toward surgery. She saw a gynecologic oncologist about having a hysterectomy (removal of the uterus) and a breast surgeon about a double mastectomy (removal of both breasts), booking more appointments in 12 months than she’d had in the past 20 years combined, she says.
“It became a beat-the-clock kind of thing,” she says. “Luckily, I am older and I already had my children and I had already used all my important body parts, so that lessened the traumatic part of it considerably for me. I’m a very practical person and I just think about it in terms of: this is just a choice and I don’t want to get cancer.”
Meanwhile, she shared what she’d learned with her three brothers, who all did genetic testing through the company 23andMe. Two of them discovered they also carry the genetic mutation. Now, their adult children are contending with what this might mean for them as they begin having families of their own. Pollack also has a 22-year-old daughter and two sons, who may have inherited the BRCA1 mutation from her.
“I’ve had a number of people in my family say my actions are a good role model for my nieces and nephews, who are in their 20s and 30s now,” Pollack says. “But my daughter’s not ready to test yet.”
Pollack opted to first have a hysterectomy, “because ovarian cancer is often silent.” The recovery was straightforward, she says, and she felt better within a few weeks.
The mastectomy was an entirely different story.
“It was a very challenging recovery,” Pollack says. “I like to pride myself on being a person who bounces back really quickly, but this took me a while. It’s a long recovery before you can be very active again, and the things I really enjoy — tennis and yoga — are both very chest dominant.”
Two other surgeries for reconstruction followed.
“It’s been a doozy of a year,” she says.
Still, she doesn’t regret any of the steps she’s taken, from signing up for the study to inspiring family members to be tested to having multiple surgeries. She says she’s glad she found out about her personal susceptibility and took action.
“I don’t know what will come in the future,” she says. “But I feel like I did what I could do to really decrease my risk.”
