In late 2009 at the age of 40, Amy Byer Shainman, a mother of two from Jupiter, Florida, found out that she carried a BRCA1 genetic mutation, which put her at high risk for both breast and ovarian cancer. Tests showed that she inherited the gene from her father.
After sifting through her options with a genetic counselor and high-risk oncologist, she decided to go ahead with two preventive surgeries. In March of 2010, she had a complete hysterectomy, removing her healthy uterus, fallopian tubes and ovaries. Then in September of that year, she had a preventive nipple-sparing mastectomy followed by immediate reconstruction with implants.
At the time, her daughter was 8 and her son was 5, both far too young to understand why anyone would intentionally remove a healthy body part. Or to grapple with the realities of what it means to carry a genetic mutation that puts you at high risk for certain cancers.
“At that point, we discussed it in an age-appropriate manner,” she said. “I told them, ‘Mommy’s going into the hospital for a Mommy check-up.’”
Shainman knew she would eventually explain the decision to her children but wanted to wait for the right moment. That moment came when Angelina Jolie Pitt revealed in May 2013 that she had undergone a preventive double mastectomy in order to hip check a BRCA1-driven breast cancer, a drastic but effective way to beat the devil at his own game.
“My daughter had seen a story online and turned to me and said, ‘Oh my god, Mom. What is up with that Jolie lady? She, like, cut off her boobs or something,’” said Shainman. “In that exact teenage tone. I took that as my cue to explain to her what she’d done — and what I’d done.”
Raising awareness – and questions
The tween’s reaction is hardly unusual. It’s one that’s been echoed around the nation twice, first with the revelation that Jolie Pitt had undergone a preventive mastectomy and again on Tuesday, when the actress and filmmaker revealed she had also opted for a preventive bilateral salpingo-oophorectomy, a surgical procedure to remove her ovaries and fallopian tubes in order to sidestep ovarian cancer.
Like Shainman’s daughter, some people are completely baffled by these actions. Others have complained that the actress is oversharing or mocked her choices, suggesting she suffers from some form of mental illness.
But health experts have almost universally agreed that based on her family history, her age and her individual risk, Jolie Pitt’s choices are sound — and smart — and that her candor has saved lives.
By going public with her BRCA1 status and her choices on how to deal with it, Jolie Pitt has raised awareness about genetic mutations that can drive cancer, opened the doors for conversations between family members about genetic testing, genetic counseling and different ways to handle gene-driven cancer risks (preventive surgeries is just one option) and created a sort of celebrity shorthand — commonly known as the “Angelina Jolie effect” — that has helped doctors around the world communicate to patients an incredible amount of complicated, nuanced information in an easily understandable fashion.
But while Jolie Pitt has been celebrated for raising awareness and saving lives, her most recent announcement has also raised questions.
Combined hormone therapy? Wait … what?
“I’m not understanding why her docs feel it’s safe for her to take estrogen/progesterone,” wrote a three-time breast cancer survivor on Twitter yesterday.
Her confusion was in response to Jolie Pitt’s statement that she was using a “little clear patch that contains bio-identical estrogen” along with a progesterone IUD inserted into her uterus to maintain a hormonal balance and prevent uterine cancer. By having her ovaries removed, the actress put herself into menopause.
And using hormones to combat the symptoms of menopause can be tricky.
In 2002, the Women’s Health Initiative released findings that combined hormone-replacement therapy or CRT (i.e., estrogen and a synthetic progesterone known as progestin used to treat menopausal symptoms) significantly raised a woman’s risk for breast cancer, heart disease, stroke, blood clots, dementia and other health problems.
Since then, many women have found safer alternatives to combat the symptoms of menopause — or simply learned to live with them — and far fewer have died as a result of continued CRT use.
Isn’t Jolie Pitt putting herself at risk for heart disease, stroke and more by taking CRT?
No, said Dr. Elizabeth Swisher, medical director of the Breast and Ovarian Cancer Prevention Program at Fred Hutchinson Cancer Research Center’s treatment arm, Seattle Cancer Care Alliance, or SCCA.
“It’s not the same as hormone replacement therapy after natural menopause, which occurs on average at the age of about 50,” she said.
According to Swisher, removing the ovaries at age 39 decreases breast cancer risk by two thirds in someone with a BRCA mutation, even if she takes short-term estrogen therapy. If estrogen is not taken, there are major negative impacts of early menopause on bone, heart health and overall mortality.
“I would recommend she take estrogen,” Swisher said. “Because she has had a bilateral mastectomy, she has minimized her breast cancer risk, and other health issues should drive the decision to take hormones.”
Dr. Julie Gralow, a Fred Hutch clinical researcher and director of Breast Medical Oncology at SCCA, agreed that Jolie Pitt’s choice was a safe one.
“There’s pretty reasonable consensus that some estrogen would be OK in this setting,” she said.
Dr. Lesley Tinker, a staff scientist with the WHI Clinical Coordinating Center, based at Fred Hutch, said all of Jolie’s choices are based on personal risks and priorities.
“That’s her individual care,” Tinker said. “It’s not a roadmap for the public.”
Can you only remove fallopian tubes and save ovaries?
In her opinion piece, Jolie Pitt also hinted at an alternative preventive procedure that would not immediately send women into menopause.
“I feel deeply for women for whom this moment comes very early in life, before they have had their children,” she wrote. “Their situation is far harder than mine. I inquired and found out that there are options for women to remove their fallopian tubes but keep their ovaries, and so retain the ability to bear children and not go into menopause.”
If such a procedure is available, why wouldn’t women just do that instead?
It’s not that easy, Swisher explained.
“Removing the fallopian tube is an unproven alternative strategy to reduce the risk of ovarian cancer,” she said. “We think that many of what we label as ‘ovarian cancers’ actually originated in the fallopian tube, therefore, removing the fallopian tube by itself could be a good cancer prevention option.”
The problem with this approach is that research has shown that removing both ovaries and fallopian tubes works. But there’s not enough information to show that taking the tubes alone does this as effectively.
“We don’t know how safe it is to take out only the fallopian tube and keep the ovaries,” said Swisher.
Taking the tubes won’t decrease breast cancer risk in the same way that removing the ovaries does, and it may or may not prevent ovarian cancer.
But Swisher and others are working on the answer to this puzzle.
“We want to be cautious with this approach until we know more about the safety,” she said. “I currently have a registry study for women who chose only to have their fallopian tubes removed in which we follow them each year after the surgery, so we can learn more about this alternative.”
Who is supposed to get tested?
The big question that many people have raised has to do with genetic testing — and rightly so, since different recommendations come from different corners.
According to the National Cancer Institute, genetic testing should only be performed when the person’s family history suggests “the possible presence of a harmful mutation in BRCA1 or BRCA2,” i.e., a history of breast, ovarian, fallopian tube or peritoneal cancers.
Some of the factors associated with an increased likelihood of a BRCA1 or BRCA2 mutation include breast cancer diagnosis before age 50, both breast and ovarian cancers, multiple breast cancers, cases of male breast cancer and Ashkenazi Jewish ethnicity.
But Dr. Mary Claire King, the University of Washington genetics researcher who discovered the location of the BRCA1 gene and proved the existence of inherited breast cancer, believes that all women over the age of 30 should be tested for the harmful BRCA mutations.
“I believe that every woman should be offered testing for BRCA1 and BRCA2 at about age 30 as part of routine medical care,” she told The New York Times in February. “About half of women who inherit mutations in BRCA1 or BRCA2 have no family history of breast or ovarian cancer and have no idea they are carrying cancer-causing mutations.”
King’s stance is “provocative and certainly interesting,” said Swisher, who also referenced women who have a BRCA mutation and get cancer but don’t have a family history of the disease.
“They may have inherited that mutation from their father and maybe had few women in the family so they were the first woman to pop up with cancer,” she said. Testing all women over the age of 30 would be “the only way to identify all women in the population who are at risk.”
Additional information on genetic testing, genetic counseling, BRCA mutations and BRCA cancer prevention can be found via programs such as SCCA's Breast & Ovarian Cancer Prevention Program, the National Society of Genetic Counselors and the American Cancer Society.
As for Shainman, the Florida mom turned BRCA awareness advocate, she readily credits the celebrity with making it easier to explain her preventive surgeries to her daughter. However, she said it was still difficult to broach the subject of genetic mutations and cancer risk with her child.
How on earth do you tell your child she may have inherited a cancer-causing gene? (The NCI provides some information here).
“When I told her, her eyes popped out and she was trying to process it, but then she asked, ‘Am I going to have to do this, too?’” said Shainman. “And my heart sank. Fortunately, I’ve had some very good advice. I basically said, ‘We don’t know yet. But that’s not something you even have to think about for years to come. And hopefully by then, there will be more options.’
“And then I asked her if she wanted some macaroni and cheese.”
Solid tumors, such as those of the breast and ovaries, are the focus of Solid Tumor Translational Research, a network comprised of Fred Hutchinson Cancer Research Center, UW Medicine and Seattle Cancer Care.
Diane Mapes is a staff writer at Fred Hutchinson Cancer Research Center. She has also written extensively about health issues for nbcnews.com, TODAY.com, CNN.com, MSN.com, Columns and several other publications. She also writes the breast cancer blog, doublewhammied.com. Reach her at dmapes@fredhutch.org.
