The Breast Cancer Gene: What Should You Do?

Last Editorial Review: 1/31/2005

Is preventative mastectomy for women with breast cancer mutations a good idea?

WebMD Feature

Reviewed By Brunilda Nazario

Shortly after her mother died of ovarian cancer in 1999, Karen (who asked that her full name not be used) got a call from her first cousin, Joanne. Joanne, a cancer survivor, was in the process of researching their family's cancer history and had discovered that numerous female relatives had died from breast or ovarian cancer. She suggested that Karen consider getting tested for one of the inherited mutations -- called BRCA1 and BRCA2 --, which greatly increases the risk of breast cancer and can also increase the risk of ovarian cancer. If Karen had this genetic mutation, it would mean that she was also at high risk of developing breast cancer.

Karen, now 48, was tested at Memorial Sloan-Kettering Cancer Center in New York City and learned that in fact she did have a mutation on the BRCA1 gene, which means that her lifetime risk of ever developing breast cancer is as high as 80%. Depending on the age of a woman, the risk in the general female population is about 7%-8%. Because the lifetime risk of ovarian cancer is also high (15%-60%) in these women, this, too, was a concern.

"Even with my family history, I was shocked to learn that I had the gene mutation, but at the same time I felt lucky because I was the first person in my family who had the chance to do something about it," says Karen. These inherited mutations are responsible for only about 5%-10% of breast cancers.

What to Do?

The question was, what exactly would she do?

Current recommendations for women with this inherited risk include:

  • Being closely monitored by monthly self-breast exams
  • Semiannual breast exams by a health care professional and annual screening mammograms
  • Having ovaries and/or having both breasts removed (these surgeries remove healthy organs to prevent cancer from developing)

While detection methods have come a long way, breast MRIs have been shown in studies to be better at detecting early-stage cancer in high-risk women. Screening tests, such as mammograms, when done regularly, can find cancers at an early stage and lower the risk of dying from breast cancer. But detection of a cancer is not the same as prevention of a cancer.

Bilateral prophylactic mastectomy is preventive surgery and is the only way to dramatically reduce the risk of developing breast cancer. Studies have shown that the procedure cuts the risk by nearly 90%.

In women with the BRCA mutation, preventive surgery to remove the ovaries (prophylactic oophorectomy) is most often done to reduce the risk of ovarian cancer, but it also cuts the risk of breast cancer. By removing the ovaries there are reduced amounts of hormones, such as estrogen, which stimulate breast cancer cells to grow.

Still, removing healthy organs is not a decision women should take lightly.

Instead, they tend to approach their options in a very practical and rational manner, says Mark E. Robson, MD, director of the Clinical Genetics Service at Memorial Sloan-Kettering. "They weigh the physical and psychological costs of having surgery against the cost of choosing screening and having it fail." A diagnosis of breast cancer is not the only thing women hope to escape; they also want to avoid potentially grueling cancer treatments.

Assuming they're done having children, women generally have an easier time accepting the idea of losing their ovaries than they do their breasts.

"Unlike breasts, the ovaries are internal organs, so the psychological impact is less and there is less stigma involved," says Carolyn Kaelin, MD, MPH. Since menopause is inevitable anyway, many women can handle the prospect of it occurring a little sooner. Kaelin is a breast surgeon at the Dana-Farber Cancer Institute and director of The Comprehensive Breast Center at Brigham and Women's Hospital in Boston.

But oophorectomy only reduces the risk of breast cancer by 50%, which isn't all that meaningful if your risk was 80% to begin with -- making prophylactic bilateral mastectomy the surest route to real peace of mind (having both surgical procedures done cuts breast cancer risk by 95% or more).

Making the Surgery Decision

Robson says he's seen a wide variety of motivations among women who opt for this radical approach. Some have watched their mothers or other relatives die from breast cancer and will do anything to escape that experience. Others, particularly younger women, are primarily thinking of their children and wanting to be around for them. For women well past menopause, losing their breasts feels less traumatic than it might have at a younger age.

For Karen, it was a divorce and a new job that forced her hand. In January 2001, shortly after learning her genetic status, she had her ovaries removed, but wasn't able to face also losing her breasts at that time. She was living near Sloan-Kettering Cancer Center, going there every three months for screening, and felt in control of her situation. But when her husband asked for a divorce, it required her to find a new job; she ended up landing one in North Carolina, where getting top-notch cancer care would require a several-hour drive.

"I started seriously considering having the procedure at Sloan-Kettering before I left," Karen tells WebMD. "I read all kinds of books and studies, talked to doctors and plastic surgeons and other women." In December of this year, she will have both breasts removed, followed by breast reconstruction. "I feel very good about my decision," says Karen, noting that her friends and family have been supportive of her choice -- something that is not always the case.

"A lot of women who consider prophylactic mastectomy are doing so in a very measured, rational way and yet, at least in the U.S., they seem to be swimming upstream against people who are saying, 'What, are you crazy?'" explains Robson. "Those people don't understand the journeys, which have led these women to their decisions."

What's most important, say Robson and Kaelin, is for a patient to be given all the information she needs to make a decision on her own, without any pressure from doctors. She should consult with a breast surgeon, a reconstructive surgeon, and most importantly, other women who have gone through it already. "One patient told me that the most helpful thing she was told was that it was perfectly reasonable to have the surgery and it was perfectly reasonable not to have it," recalls Robson. "It's just a personal choice and a woman should be supported no matter which way she goes."

Like Karen, the vast majority of women who choose prophylactic mastectomy opt for reconstructive surgery immediately afterward. During a bilateral mastectomy, a surgeon removes all breast tissue that is visible to the naked eye, including the nipple. The risk of cancer can never be 100% eliminated, says Kaelin, because there might be a wisp of a breast tissue cell that has dived down into the chest wall or beyond the normal boundaries.

Options for Breast Reconstruction

Options for breast reconstruction depend largely on a woman's individual physique. The most common procedure for women who've had both breasts removed involves saline or silicone breast implants.

In alternative procedures, breasts are recreated using muscle and fat from other areas of the body. These tissues are used to create a sling-like structure on the chest wall; afterwards implants are placed in the position of the breast. With a TRAM flap (transverse rectus abdominal muscle), abdominal muscle and fat are used. A similar procedure, called a DIEP flap (deep inferior epigastric perforator), leaves the abdominal muscle in place and uses only fat and skin from that area. A different procedure uses back muscle.

Because two breasts must be recreated, a woman needs to have a large amount of appropriate tissue to spare for these procedures. Also, removing major muscles can cause weakness and pain in specific body regions. Nipple reconstruction usually involves a skin graft that's formed into a nipple shape and then tattooed to resemble a natural nipple in color.

While reconstructed breasts have scars and no nipple sensation, Kaelin tells WebMD that some women are genuinely "delighted" with their reconstruction.

But the real delight comes from the immense relief in no longer feeling like a ticking time bomb --something that Karen looks forward to. "My risk will be below that of the normal population; I won't need the surveillance anymore and getting health insurance won't be an issue," she says, pausing and then admitting that she is also pleased about a more superficial benefit of the surgery: "My new breasts will be perky for life!"

Published Sept. 20, 2004.

SOURCES: Mark E. Robson, MD, director, Clinical Genetics Service, Memorial Sloan-Kettering, New York City. Carolyn Kaelin, MD, MPH, breast surgeon, Dana-Farber Cancer Institute; and director, The Comprehensive Breast Center, Brigham and Women's Hospital, Boston.

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