Aug. 21, 2000 -- Breast cancer runs in Vicki Small's family. Her mother died of the disease; her sister has battled it. So three years ago the 40-year-old New Jersey woman got tested for the breast cancer gene. Doctors searched for mutations in her DNA, which -- if present -- could give her up to an 80% chance of inheriting the disease.
Although Small was healthy with no hint of cancer, her tests came back positive. She agonized for weeks, then chose a drastic measure that many women in good health would find unthinkable: She decided to have her breasts and ovaries surgically removed. "Although I wanted to have more children, I figured it would be better to be alive for the two I already had," she says.
Now that tests are available to identify mutations of the breast cancer gene, known as BRCA, women can find out whether they are at greatly increased risk of developing the disease -- even if they're cancer-free so far. The question is: What should they do with that knowledge? According to a study published in the June 10, 2000 issue of the Lancet, 50% are choosing preventive double mastectomies, meaning that both of their breasts are removed.
That decision comes with a lot of sleepless nights and troubling questions these women must grapple with. It's one that will radically change their lives. "You're taking away a part of the female body," says Small. "But I saw what my mother and sister went through, and I didn't want to repeat that."
Women at High Risk
Indeed, a woman makes the decision to have her breasts removed in the face of horrifying odds. Although mutations of the BRCA-1 or BRCA-2 genes do not guarantee that a woman will develop breast cancer, they substantially raise her risk. Women with BRCA mutations run a lifetime risk as high as 4 in 5 of developing the disease, says Victor Vogel, MD, director of the Comprehensive Breast Program at the University of Pittsburgh Cancer Institute/Magee Women's Hospital. Their lifetime risk of developing ovarian cancer is also elevated to 2 in 5. In comparison, about 1 in 8 women in the general population will develop breast cancer in their lifetimes, many in old age, and only 1 in 100 will have ovarian cancer, says Vogel.
Once a woman finds she carries one of the mutations, she is left with a difficult choice, he says. She can hope for the best and get frequent mammograms. She can take the cancer-preventive drug, tamoxifen, which has been shown to reduce a woman's risk of developing breast cancer by about 50%. She can have only her ovaries removed, which also reduces the risk of breast cancer by about 50%. Or she can opt to have her breasts, and often also her ovaries, removed.
A study published in the January 14, 1999 issue of the New England Journal of Medicine found that women with a strong family history of breast cancer (not specifically those who tested positive for the breast cancer gene) reduced their risk of developing the disease by 90% if they had both breasts removed. Though having a double mastectomy is not an absolute guarantee that a woman will stay cancer-free, the 10% who did develop tumors after the surgery may have had undetected cancers at the time of the operation, Vogel says.
Not the Only Option
While slightly more than 50% of women who learned that they carried one of the BRCA mutations opted for a double mastectomy in the Lancet study, it's clearly not the only option. Even when breast cancer does occur, tumors in women with BRCA mutations aren't any more virulent than cancers in other women, says Anne Blackwood, MD, an assistant professor of medicine and epidemiology in the division of hematology and oncology at the University of Pennsylvania Medical Center in Philadelphia. If the cancer is caught early, a simple lumpectomy -- where doctors remove the cancerous mass but leave the rest of the breast intact -- may suffice.
If other choices exist, then, why have so many women opted to have their breasts removed? Often the decision comes down to whether a woman can live with the knowledge that she has a good chance of developing breast cancer, says Linda Vahdat, MD, an assistant professor of medicine at Columbia Presbyterian Medical Center in New York City. "What matters is your level of fear," she says. "If you have a high level of fear, you probably should have a prophylactic [preventive] mastectomy. If you can put it behind you and go on with your life, you may want to do something else."
Women have to do what will give them the least amount of stress, says Vogel. Once they know about their elevated risk, some simply can't escape the gnawing fear. "Women have told me, 'I want them gone. Every day I wake up and wonder if today is the day I will develop breast cancer,' " he says.
But other women are loath to part with their breasts because their physical appearance and sexuality are so tied to their identity, Vogel says. For these women, breast reconstruction -- no matter how good the rebuilt breasts look -- may not be enough. "It's not the same as having a normal breast," he says. "You lose all sensation."
After the Surgery
While women who undergo preventive mastectomies greatly reduce their odds of breast cancer, there are other risks associated with the procedure itself, Vahdat says. General anesthesia can cause various complications, the most serious of which, in extremely rare cases, is death. There are also risks of blood clots and infection, especially with the longer surgeries needed to remove the breasts and reconstruct them with a woman's own fat tissue.
Since the breast cancer gene also increases the risk that a woman will develop ovarian cancer, she may choose to have her ovaries removed as well -- which sends her into immediate menopause. This means her risk of heart disease and osteoporosis will rise unless she begins hormone replacement therapy. The good news in that circumstance, Vogel says, is that these women don't have to worry about the potentially increased risk of breast or ovarian cancer that goes along with such therapy.
Breast reconstruction is another option to consider. There are two main choices: breasts filled out with fat taken from elsewhere on the woman's body or those shaped with saline implants. Those fashioned from a woman's own fat have the advantage of feeling more like a real breast, Vahdat says. But for some women, implants are the only viable option. Small says she would have preferred to have breasts formed from her own fat, but she was too thin.
Still, Small says she's happy with the results. "I had the most wonderful reconstructive surgeon," she says. "It took a long time. They had to reconstruct the nipples and stretch the skin. But they look very good."
Making the Decision
With all of these factors to consider, Vogel suggests that women who learn they are positive for one of the BRCA mutations take some time -- perhaps three to six months -- before making a final decision. "We tell women not to do anything in a hurry," Vogel says. "We tell them to talk to people. And we remind them that once their ovaries and breasts are gone, they're gone forever -- we can't reverse this procedure."
Indeed, one of the major impacts of removing the ovaries is sterility, meaning women can no longer bear children. Perhaps for this reason, the Lancet study found that most of those who opted for gene testing and ovarian removal were young women who already had children.
Even with all of the drawbacks, for many women removal of their breasts and sometimes their ovaries is well worth it. It reduces their fear of getting breast cancer. A recent study from the Mayo Clinic, published in the July 19, 2000 issue of the Journal of the American Medical Association found that of 572 women who'd had double preventive mastectomies between 1960 and 1993, nearly 70% felt good about their decisions. And nearly 75% said they worried less about breast cancer.
Small, for one, says she's still happy with the choice she made three years ago. "When you get cancer, you have to go through a period where you don't feel good and don't know what is wrong with you. And then you have radiation and chemotherapy," she says. "It's better to have the surgery and to avoid having cancer."
Linda Carroll is the women's health columnist for MSNBC. Her health stories have also appeared in a variety of publications, including The New York Times, Newsday, The Los Angeles Times, The Chicago Sun Times, and The Detroit Free Press.
©1996-2005 WebMD Inc. All rights reserved.