Now four decades later, another leading lady — the actress Angelina Jolie — has focused public attention on breast cancer again, but this time with an even bolder message: A woman at genetic risk should feel empowered to remove both breasts as a way to prevent the disease. Ms. Jolie revealed on Tuesday that because she carries a cancer-causing mutation, she has had a double mastectomy.
“She’s the biggest name of all, and I think given her prominence and her visibility not only as a famous person but also a beautiful actress, it’s going to carry a lot of weight for women,” said Barron H. Lerner, a medical historian and the author of “The Breast Cancer Wars.”
Breast cancer experts and advocates applauded the manner in which Ms. Jolie explored her options and made informed decisions, saying it might influence some women with strong family histories of breast cancer to get genetic tests.
But some doctors also expressed worry that her disclosure could be misinterpreted by other women, fueling the trend toward mastectomies that are not medically necessary for many early-stage breast cancers. In recent years, doctors have reported a virtual epidemic of preventive mastectomies among women who have cancer in one breast and decide to remove the healthy one as well, even though they do not have genetic mutations that increase their risk and their odds of a second breast cancer are very low.
Ms. Jolie
wrote on the Op-Ed page of The New York Times that she had tested positive for a genetic mutation known as
BRCA1, which left her with an exceedingly high risk for developing breast and ovarian cancer. Her mother died at 56 after nearly a decade with cancer, though Ms. Jolie did not specify which type. After genetic counseling, Ms. Jolie opted to have both breasts removed and to undergo reconstructive surgery.
Ms. Jolie, 37, who declined to be interviewed for this article, was treated at the Pink Lotus Breast Center in Beverly Hills, Calif., a clinic opened in 2009 by Dr. Kristi Funk, identified on its Web site as a former director of patient education at the breast center at Cedars-Sinai Medical Center in Los Angeles.
Her condition is rare. Mutations in BRCA1 and another gene called
BRCA2 are estimated to cause only 5 percent to 10 percent of breast cancers and 10 percent to 15 percent of ovarian cancers among white women in the United States. The mutations are found in other racial and ethnic groups as well, but it is not known how common they are.
About 30 percent of women who are found to have BRCA mutations choose preventive mastectomies, said Dr. Kenneth Offit, chief of clinical genetics at Memorial Sloan-Kettering Cancer Center in New York. Those who have seen family members die young from the disease are most likely to opt for the surgery.
“It’s important to make it clear that a BRCA mutation is a special, high-risk situation,” said Dr. Monica Morrow, chief of the breast service at Sloan-Kettering. For women at very high risk, preventive mastectomy makes sense, but few women fall into that category, she said.
For women’s health advocates, the trend toward double mastectomies in women who do not have mutations is frustrating. Studies in the 1970s and 1980s proved that for many patients, lumpectomy was as safe as mastectomy, and the findings were seen as a victory for women.
Even so, there is increasing demand for mastectomy. Dr. Morrow says that she has often tried to talk patients out of it without success. Some imagine their risk of new or recurring cancer to be far higher than it really is. Others think that their breasts will match up better if both are removed and reconstructed.
Ms. Jolie’s decision highlights the painful dilemma facing women with BRCA mutations.
“She is a special case, and you can completely understand why she did it,” said Dr. Susan Love, the author of a best-seller, “Dr. Susan Love’s Breast Book,” and a breast surgeon. “But what I hope that people realize is that we really don’t have good prevention for breast cancer. When you have to cut off normal body parts to prevent a disease, that’s really pretty barbaric when you think about it.”
Women who carry BRCA mutations have, on average, about a 65 percent risk of eventually developing breast cancer, as opposed to a risk of about 12 percent for most women. For some mutation carriers, the risk may be higher; Ms. Jolie wrote that the estimate for her was 87 percent.
Because the BRCA mutations are rare and the test expensive — about $3,000 — it is not recommended for most women.
But for women with breast cancer who do have mutations, knowing their status can help them make further treatment decisions, like whether to have an unaffected breast or their ovaries removed.
Women who should consider testing are those who have breast cancer before age 50, a family history of both breast and ovarian cancer, or many close relatives with breast cancer, especially if it developed before age 50. Any woman with ovarian cancer should consider being tested, as should Ashkenazi Jewish women with breast or ovarian cancer. Men with breast cancer and their families should also ask about the possibility of a genetic predisposition to the disease.
Because the cancer risks for carriers are so high, women with the mutations are often advised to have their breasts and ovaries removed as a preventive measure. It is generally considered safe to wait long enough to have children before having the ovaries removed, but the operation should be done by age 40, said Dr. Susan M. Domchek, an expert on cancer genetics at the University of Pennsylvania and the executive director of its
Basser Research Center, which specializes in BRCA mutations. There is no reliable way to screen for ovarian cancer, and most cases are detected at a relatively late stage, when the disease is harder to treat and more likely to be fatal.
Ms. Jolie said that she herself had a 50 percent risk of ovarian cancer. “I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex,” she wrote.
Removing the breasts is not the only option, Dr. Domchek said. Some women with BRCA mutations choose close monitoring with mammograms and M.R.I. scans once a year, staggered so that they have one scan or the other every six months. Those tests offer a chance to find cancer early.
For some women, certain drugs can lower the risk of breast cancer, but not as much as
preventive mastectomy.
It is also possible for women who are mutation carriers to avoid passing the gene to their children, by undergoing in vitro fertilization and having embryos screened for BRCA genes. Then, only embryos free of mutations can be implanted.
Ms. Jolie’s celebrity and her roles as a mother of six and a movie star who plays strong women, including the swashbuckling archaeologist Lara Croft, may give her decision far-reaching impact.
Dr. Isabelle Bedrosian, a surgical oncologist at M. D. Anderson Cancer Center in Houston, has been a vocal critic of the trend toward double mastectomy among women who are not at high genetic risk. However, she hopes the decision by Ms. Jolie will focus women on the value of genetic counseling and making informed decisions.
“I think there is an important upside to the story, and that is that women will hopefully be more curious about their family history,” Dr. Bedrosian said. “We need to be careful that one message does not apply to all. Angelina’s situation is very unique. People should not be quick to say ‘I should do like she did,’ because you may not be like her.”
來源出處
重點小記
1. BRCA1或BRCA2基因突變, 只佔所有乳癌及卵巢癌病患的一小部份, 乳癌約5~10%, 卵巢癌約10~15% (在美國)
2. BRCA1基因突變者, 終生約有平均65%的機率得到乳癌, 而其它一般的美國婦女終生機率約12%
3. 哪些人需要考慮檢驗BRCA 基因突變 (專家建議, 適用在美國, 由於BRCA基因檢測昂貴, 不建議所有病患檢測)
(1) 年輕得乳癌(年紀<50 歲)
(2)家族史同時有乳癌及卵巢癌, 或許多親屬有乳癌, 特別是年輕就發病者(年紀<50 歲)
(3)任何卵巢癌患者
(4)男性乳癌患者以及其親屬
4. 卵巢癌無較好的篩檢方式, 發病診斷時常是晚期疾病, 建議BRCA基因突變者, 若考慮作預防性手術摘除卵巢, 建議時間在生育年齡過後, 在40歲之前(因常在40歲前發病)
5. 預防性手術可大幅降低罹患相關癌症機率, 但仍無法100%預防得癌機會
