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The Breast Cancer Gene: What Should You Do?

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.