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Considering Prophylactic Surgeryby Ellen McDonald
The prospect of undergoing prophylactic mastectomy and oophorectomy never enters the minds of most women (or their physicians) over a lifetime. For women like Mary Ann Powell, however, that prospect can take on a stark immediacy once cancer is diagnosed in a close relative. “I knew that a lot of people in my family had died of breast and ovarian cancer,” explained Ms. Powell. “Then, when my sister got breast cancer and learned she had a genetic defect, that was kind of a wake-up call.” After having genetic testing at M. D. Anderson Cancer Center and discovering that she had a BRCA2 mutation, Ms. Powell decided last year to undergo a bilateral mastectomy and, later, an oophorectomy with a hysterectomy for cancer prophylaxis. “Oddly enough,” the 45-year-old lawyer remarked, “I was just very comfortable with my decision.” That was even before pathologic examination showed ductal carcinoma in situ in the left breast and some abnormal cells in the right breast. Although removing seemingly healthy breasts and ovaries to prevent a future cancer seems a drastic step, this option may currently offer the best hope for prevention in some women with identified mutations. “When genetic testing first became available in the mid-1990s, nobody really knew how effective preventative surgeries might be; it was not such a sure thing that you could actually remove enough of the questionable cells to have a big effect. The concern was that people would go through these major surgeries and then a few years later develop cancer anyway,” said Louise Strong, M.D., a professor and chair of the Department of Clinical Cancer Genetics at M. D. Anderson. “But within the past six years or so, the effectiveness of these prophylactic surgeries has been confirmed.” For example, studies in women with deleterious mutations of BRCA1 and BRCA2 have shown a significant decrease in the risk of breast cancer in those who undergo bilateral prophylactic mastectomy (90–98%) and of ovarian cancer in those who undergo prophylactic oophorectomy (over 90%). Physicians and genetic counselors at M. D. Anderson help women make informed decisions by providing risk assessment, discussing risk-reduction options, and devising an appropriate management strategy. Ideally, genetic counselors see patients very early in this process: “We really like patients to have extensive counseling even before they have genetic testing because we can talk to them about the potential emotional consequences and family dynamic issues that might come up with different testing results,” noted Julie Erlichman, M.S., a genetic counselor in the Department of Clinical Cancer Genetics. “Once we give them the results, we talk to them generally about what their options are and then refer them to physicians for the more in-depth discussion of what is involved.” Banu Arun, M.D., an associate professor in the Department of Breast Medical Oncology, said that for patients with a deleterious BRCA1 or BRCA2 mutation, whose lifetime risk for breast cancer she estimated as anywhere between 50% and 80%, she presents all available risk-reduction options. These include frequent screening by mammography, magnetic resonance imaging, and clinical breast examination; chemoprevention with tamoxifen or other drugs currently under study; and prophylactic surgery, which can mean mastectomy with or without oophorectomy or oophorectomy with no mastectomy. “I tell our patients that if they opt to have an oophorectomy because their ovarian cancer risk is high as well, their breast cancer risk will also be decreased anywhere between 30% and 50%,” said Dr. Arun. Regarding prophylactic mastectomy, she noted, “In genetically high-risk women, mastectomy is one of the valid options, but it is a personal choice, not only whether to have the surgery but when to have it. They have time to think about their options, and the best option for each person may be different.” Like Dr. Arun, Funda Meric-Bernstam, M.D., a surgeon and an assistant professor in the Department of Surgical Oncology, tells patients that choosing prophylactic mastectomy is an enormous decision that should not be rushed. She encourages them to consider all their options and decide from the perspective of their own perceived risk; current, constantly evolving scientific information; and what they expect to happen in the field and to themselves within the next 10 years, based on conversations with genetic counselors, physicians, and possibly others who have faced the same decision. For women with BRCA mutations who want to reduce their risk for breast cancer as much as possible, Dr. Meric-Bernstam observed, “Studies suggest that with mastectomy we can decrease their risk by 90% to 95%, so bilateral prophylactic mastectomy is the gold standard for prevention. The important thing to consider is that no surgery is minor surgery, even if you’re in good health. With reconstruction, we can get a cosmetically good result; however, it won’t be a natural breast, it won’t have normal sensation, and there may be substantial consequences from a psychosocial perspective.
“I tend to meet with patients at least twice to go over all of this,” Dr. Meric-Bernstam continued, “giving them at least three months from our first meeting to absorb the information before we go over it again. I want them to be sure this is what they want to do before proceeding. If a woman decides on surgery, she meets with the plastic surgeons a few times to come up with the most conservative reconstruction that will give the most cosmetically pleasing result.” Whereas prophylactic mastectomy is presented as one of the risk-reduction options available to women with BRCA1 and BRCA2 mutations, prophylactic oophorectomy is presented as more of a necessity for these women. Dr. Karen Lu, M.D., an associate professor in the Department of Gynecologic Oncology, provided the grounds for this difference: “Screening for ovarian cancer has never been proven to be effective. For a woman who is at very high risk, prophylactic oophorectomy has been shown definitively to decrease risk by greater than 90%. “Consequently,” Dr. Lu noted, “we recommend that after childbearing, known mutation carriers undergo prophylactic oophorectomy. Oral contraceptives can be a good option for younger women not ready for surgery yet.” In terms of what the future holds, Dr. Meric-Bernstam noted that ongoing attempts at M. D. Anderson and other institutions to develop genome-specific chemopreventive agents and a blood test that can detect breast cancer earlier than is currently possible may obviate or at least decrease the need for prophylactic mastectomy. Similarly, Dr. Lu spoke hopefully of new markers being identified that will lead to better detection of ovarian cancer and possibly decrease the need for prophylactic oophorectomy. Mary Ann Powell believes that both her son and daughter should ultimately be tested to see if they carry the BRCA2 mutation. However, on the advice of her M. D. Anderson physicians, she told her 12-year-old daughter not to worry about testing until she was in her 20s at the earliest because the state of cancer prevention, detection, and treatment may have changed substantially by then.For more information on this topic or for questions about M. D. Anderson’s treatments, programs, or services, call askMDAnderson at (877) MDA-6789. Other articles in OncoLog, April 2005 issue:
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