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Gene Test, Preventive Surgery Save Women's Lives
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Preventive Surgery Cuts Death Risk for Women With BRCA Cancer Genes
Daniel J. DeNoon
Reviewed By Laura J. Martin, MD
But to reduce their risk, women must make difficult choices:
Just a few months ago, 42-year-old Maxine Grossman, PhD, faced all these decisions. Her mother had died of breast cancer at age 55. A close cousin on her father's side was diagnosed with breast cancer at age 33. And Grossman has an Ashkenazi Jewish background, increasing her risk of carrying the BRCA gene.
These risk factors -- relatives on both sides of the family with early breast cancer and her heritage -- make Grossman a prime candidate for the BRCA gene test. But it was hard for her to decide to get the test -- and hard for her to face the next set of choices.
Now there's more information to help women like Grossman make these choices. It comes from a long-term study of nearly 2,500 BRCA-positive women studied at 22 medical centers in the U.S. and Europe by University of Pennsylvania researcher Timothy R. Rebbeck, PhD, and colleagues.
Only 10% of the BRCA-positive women in the study underwent preventive breast removal. Over three years of follow-up, none of them got breast cancer. Over the same period, 7% of BRCA-positive women who kept their breasts got breast cancer.
Only 38% of the BRCA-positive women in the study chose to have their ovaries and fallopian tubes removed. These women had a significantly lower risk of both breast and ovarian cancer than women who did not have the surgery.
They also reduced their risk of death. Among women who underwent the procedure, known as risk-reducing salpingo-oophorectomy or RRSO:
"You can prevent a death from ovarian cancer by appropriate use of genetic testing and preventive surgery," Rebbeck tells WebMD. "That is a message that some women should get to save their lives."
The BRCA gene vastly increases a woman's cancer risk. Women with the BRCA1 or BRCA2 gene have a 56% to 84% lifetime risk of breast cancer. Lifetime risk of ovarian cancer increases by 36% to 63% for women with BRCA1 and by 10% to 27% for those with BRCA2.
There's no surefire way to screen women for ovarian cancer. That means that by the time the cancer is found, it's often too late for a cure, says Virginia Kaklamani, MD, DSc, director of translational breast cancer research at the Lurie Comprehensive Cancer Center at Northwestern University.
"Any woman who is positive for BRCA1 or BRCA2 should consider RRSO," Kaklamani says. "Usually it's done at age 40 or when a woman is finished having children, as the risk of ovarian cancer increases at age 40 but not before that. But since there is no good screening for ovarian cancer, the only way to prevent it is to have the surgery."
What It's Like to Get a Positive BRCA Test Result
The BRCA mutations can be carried by either men or women. This means that a woman could be carrying the gene if a female relative on either her mother's or father's side of the family had breast cancer at an early age.
While the test itself is simple, explaining a positive result is complicated. Not every doctor is up to the task.
"It is really important to go to someone who knows what they are talking about," Rebbeck says. "These tests can be ordered by any clinician, but some do not have full knowledge of how these tests may work or what a woman's options may be. You really need to talk to someone who knows this business."
Grossman's experience is a case in point.
"The genetic counselor I went to gave me good information, but I think I was her first patient to test BRCA positive," Grossman says. "She didn't even have tissues with her. She didn't know what to do when I cried. And cussed."
What's it like to find out you're carrying the BRCA mutation?
"I was offended. I thought, 'How could I lose my mother to cancer, how could I have these other medical challenges in my life, and then turn out to be BRCA positive as well?"
Fortunately, Grossman's cousin -- a breast cancer survivor -- gave her the support she needed. Soon she was ready for the next step: considering preventive surgery.
As she'd already had all the children she wanted, it was not hard for Grossman to accept her doctors' adamant advice to have her ovaries and fallopian tubes removed. Deciding whether to keep her breasts was another matter.
Kaklamani notes that a woman in Grossman's situation has options. There are medications that reduce a woman's risk of breast cancer. And frequent screening -- alternating mammograms and MRI tests every six months -- is likely to catch cancers while they still can be cured.
But Kaklamani also notes that women with the BRCA gene are at high risk of aggressive, fast-growing breast cancer.
"If it were me, as I am an oncologist and have seen what advanced breast cancer looks like, I would elect for the procedure," she says. "But it is hard to tell women to undergo bilateral mastectomy when there are screening modalities that can find breast cancer when it can be cured. Most women will opt not to."
Grossman says that none of the doctors and very few of the family members she's consulted have urged her to keep her breasts. She intends to have the mastectomy.
"The real honest answer is that I don't like my breasts enough to be constantly monitoring for cancer," she says. "I have two small children. I lead a very busy life. I do not want to have chemo. And I do not value my breasts above all those other things."
Advice to Women Considering the BRCA Test
It's clear from the Rebbeck study that women can save their own lives by getting the BRCA test and, if they test positive, by having their ovaries and fallopian tubes removed.
Grossman agrees that high-risk women should get the test. But she warns such women to get tested on their own terms, in their own time.
"Do not get tested until you are ready, whether that means having more kids or coming up with a family planning strategy," she says. "Don't let people push you into testing earlier than you are ready for. You are the one who has to walk around feeling like a cancer bomb."
And for those who get the bad news that they do, indeed, carry a BRCA mutation, Grossman says there's no single correct response for every woman.
"There are a whole lot of ways to die, and you must minimize your risk of dying from cancer," she says. "But everybody has their own way of doing it."
The Rebbeck study, and an editorial by Kaklamani and University of California San Francisco researcher Laura Esserman, MD, MBA, appear in the Sept. 1 issue of the Journal of the American Medical Association.
SOURCES: Domchek, S.M. Journal of the American Medical Association, Sept. 1, 2010; vol 304: pp 967-975.
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