I don’t have a whole lot in common with Angelina Jolie, but we do share a terrifying family history of breast cancer. Like Jolie, I lost my mother to cancer—mine at 49, Jolie’s at 56. Also like Jolie, I decided to have the genetic test for the BRCA1 and 2 mutations, which, if present, indicate a severely increased risk of developing breast and ovarian cancer over a lifetime.
Jolie, as the world now knows, tested positive for BRCA1, a result that led to her decision earlier this year to have both breasts removed and reconstructed with implants. “My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer,” she wrote in a New York Times op-ed published Tuesday. On average, women with the BRCA1 mutation have a 50-65 percent lifetime risk of breast cancer and those with BRCA2 have an average lifetime risk of about 45 percent.
The 87-percent figure that Jolie cites is at the highest end of the estimated risk and, in fact, a somewhat outdated figure. Perhaps the actress or her doctors chose to look at a worst-case scenario. Given that scenario, the choice she made seems like a no brainer. But, as any good genetics counselor will tell you, there is no one-size-fits-all decision with genetic testing, no matter what your result. Would Jolie have made the same choice if she faced the 45 percent risk conferred by the BRCA2 mutation or even the 50-65 percent now seen as more accurate for BRCA1?
“We never recommend a prophylactic mastectomy. We offer it as an option. But the standard recommendation is screening with MRI and mammogram for women, alternating the two screenings every six months,” says Carrie Koval, a genetic counselor at NewYork-Presbyterian Hospital, where I had my own genetic testing done.
“We don’t encourage women who are BRCA-positive to change their life plans,” says Koval. “We try to help them integrate the news but not live their lives in a different way. They should choose to get married or not, have children or not, breastfeed or not, but not base these decisions on their carrier status.”
Koval thought it was significant that Jolie, 37, had her double mastectomy after she was (presumably) done having children. “We don’t know how long ago she found out she is BRCA-positive.”
The whole idea of “lifetime risk” can be a tough one for patients to grasp. If you learn at age 25 that you carry the BRCA1 mutation, it does not mean that you have a 50-65 percent risk of breast cancer at that precise moment in time. If you learn about it at 65 and have so far dodged the cancer bullet, that lifetime risk would loom larger.
And it matters whether you have had a brush with cancer or abnormal cells—something we don’t know about Jolie.
Shari Foos, a family therapist and narrative medicine practitioner in New York and Los Angeles had BRCA screening after biopsies showed she had two different types of precancers in her breasts. “No one in my family had breast cancer, but the result was positive.”
Foos, at age 50, opted for a double mastectomy with reconstruction using her own tissue rather than implants. Most doctors she consulted thought she was crazy to lop off her breasts, she says. “They said I should wait until I had a little bit of cancer before I got surgery, but I didn’t want a little bit of cancer.” Foos is hopeful that Jolie’s example will help other women avoid the “unbelievably unempathetic” responses she got in seeking prophylactic mastectomies.
As an Ashkenazi Jew, I opted to be tested for the three BRCA mutations most common in people of my heritage. This meant a test that cost about $650 as opposed to the $3,600 for a broader test that essentially spellchecks the entire BRCA gene.
I met with a genetics counselor who asked me to fill out a family history chart indicating which of my relatives had had breast cancer and at what age. Many people think they have a dangerous familial pattern, but often the pattern fits within normal risks. As it turned out, my family pattern was suspect. Having relatives who got breast cancer before age 60, as my mother and her first cousin did, were red flags. Other red flags that counselors look for: developing breast and ovarian cancer together, and having a male family member diagnosed with breast cancer.
The test itself is nothing more than a blood draw or, nowadays, spitting mouthwash into a cup, followed by a two-week-long wait. Then comes the result, given in person by the counselor. I brought my husband for moral support.
The news was good: I did not carry the mutation. I wept with relief. But then the counselor told me that I should not give too much weight to the finding.
My negative result “would be more meaningful,” she told me, if one or more first-degree relatives (a sister, mother, first cousin) tested positive for one of the BRCAs. Then I would have evidence that the familial cancer pattern was due to this particular genetic mutation. Without that knowledge, it could be that my family’s crazy burden of breast cancer was due to another gene defect—either a less common one that’s known to researchers or one that has yet to be discovered. Sigh.
This was in some ways the hardest news to deal with. How would I tell my two sisters that I wanted them to get tested, too—and that, if they turned out to be BRCA carriers, it would be bad for them but good for me?
“Yeah, that’s a hard conversation to have,” concedes Koval, who sometimes drafts a letter for patients in this situation to help them explain that the whole family benefits when more genetic information is known.
As it turned out, my sisters didn’t want to know. Ignorance, they said, was bliss. Perhaps Angelina Jolie’s revelation will help me reopen that conversation.