Few options for women with genetic flaw
Angelina Jolie shown with her mother, Marcheline Bertrand, who died of cancer.
Actress Angelina Jolie made a wrenching choice after a blood test detected a genetic defect that made breast cancer all but certain in her lifetime: She opted to have her breasts surgically removed. Her decision starkly highlights the less-than-ideal options available to women confronting a similar diagnosis.
And her case — there is no drug specifically targeting her genetic mutation that will prevent cancer — casts a light on personalized medicine, a still-adolescent field in which the ability to find disease can sometimes outstrip the ability to treat it.
Preventive surgery to remove the breasts and ovaries can dramatically reduce lifetime risk of getting these cancers to 5 percent or less. But those measures also mean an often long and painful recuperation from surgery as well as long-term consequences, such as reduced sexual pleasure and early menopause.
“Women need better choices,” said Dr. Susan Domchek, an oncologist who heads the Basser Research Center at the University of Pennsylvania School of Medicine. “We shouldn’t think that these surgical preventions have fixed the problem. They’re just a temporary solution.” The Penn center is developing medications and vaccines that target a mutation in the BRCA gene — such as the one carried by Jolie — but those treatments are still years away
With advances in genetic screening and cancer prevention research, women who have close family members with breast or ovarian cancer often face difficult questions. Should they get screened for a BRCA mutation? What will they do if they test positive — get their breasts removed, ovaries removed, or both? Or should they opt for frequent mammograms and magnetic resonance imaging to detect any cancer early?
The number of women opting to get the breast cancer gene test keeps increasing, with about 250,000 expected to be screened this year; more than 1 million have been screened since the test was approved in 1996, according to Myriad Genetics, the Utah company that makes the test. The mutation is carried by 1 in 1,000 women, but accounts for 5 to 10 percent of breast cancers and 10 to 15 percent of ovarian cancers.
Some women, like Susan Feinberg of West Dennis, do not find out they have a BRCA mutation until after their cancer has been diagnosed. After having surgery to remove a malignant breast tumor and undergoing chemotherapy four years ago, Feinberg, 54, is scheduled to have her healthy breasts removed Monday at Beth Israel Deaconess Medical Center. Her ovaries were removed soon after chemotherapy.
“I was told I had a 20 percent risk of having a second breast cancer within five years after my diagnosis,” Feinberg said. That’s higher than most women who are diagnosed with early stage breast cancers but do not have the mutation.
The BRCA1 mutation, which both Jolie and Feinberg carry, confers a lifetime breast cancer risk of up to 87 percent and a 50 percent likelihood of getting ovarian cancer; researchers have found that having surgery to remove healthy breasts and ovaries before they become malignant can largely prevent the cancers and help save lives.
“Most medical professionals would say it’s not the only thing a woman can do, but it’s a very reasonable approach,” said Dr. Eric Winer, director of the Breast Oncology Center at the Dana-Farber/Brigham and Women’s Cancer Center.
Despite a family history of breast cancer, Feinberg delayed genetic screening; the disease ran on her father’s side, striking her grandmother, aunts, cousins. “I just wasn’t ready to take that step,” she said.
Once it was clear she had the gene, Feinberg pressed ahead to have her ovaries removed because ovarian cancer, with no reliable screening test, is usually detected too late. “They detected microscopic cancer cells, so there’s no question that the surgery saved my life,” she said.
Removal of the ovaries can prevent ovarian cancer and also reduces breast cancer risk by about half. But it thrusts a woman into early menopause, which can have jarring side effects for someone as young as the 37-year-old Jolie.
“Bone loss, hot flashes, vaginal dryness, sexual dysfunction, and feeling terrible,” said Winer, ticking off the maladies likely to occur when women “jump off the high dive into menopause.” Doctors often recommend hormone replacement therapy for women who choose to have their ovaries taken out before age 50.
Jolie may have put off having her ovaries removed if she hasn’t closed the door on having more biological children; her doctors may have told her there’s no pressing need to have surgery because ovarian cancer typically doesn’t occur until a woman is in her late 40s or early 50s, even in those with the BRCA mutation, Winer said.
The $3,000 cost of the screening test may be an “obstacle for many women” without health insurance, as Jolie mentioned in her column, published Tuesday in The New York Times. But most women in Massachusetts get coverage if they meet certain criteria established by the American Cancer Society and other medical organizations, including having two first-degree relatives (mother, sisters, daughters) with breast cancer or two second-degree relatives (grandmother or aunts) with ovarian cancer.
Jewish women of Eastern European descent would likely qualify for coverage if they have a single first-degree relative with breast or ovarian cancer because they are at higher risk of carrying a gene mutation. Federal law requires insurers to cover the test in those who are eligible with no cost-sharing imposed on patients.
Some psychologists see a strong upside to the spotlight Jolie thrust on using personalized medicine to manage genetic risks for hereditary cancers. “There is still a fair amount of stigma” surrounding the issue of BRCA testing, said psychologist Sharon Bober, who directs the sexual health program at Dana-Farber Cancer Institute. What Jolie did, Bober added, “is enormously empowering” for women facing similar choices.
Feinberg received several donations on Facebook Tuesday to a nonprofit for which she volunteers, Facing Our Risk of Cancer Empowered, which counsels those at risk for breast and ovarian cancers.
Women who discuss their experiences with prophylactic mastectomies in forums and at events sponsored by the group often describe their recuperation. “There are the things that no one tells you, like . . . it will be easier to sleep in a recliner than a bed,” Feinberg said. A recently purchased recliner is sitting in her living room.