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Breast Cancer Risk and Genes
POSTED: 7:53 am EDT March 14,
2008
Breast cancer is the most common type of cancer diagnosed in American women and the second leading cause of cancer death. Last year, the American Cancer Society estimated 178,480 new cases of invasive breast cancer would be diagnosed in the U.S. and 40,460 women would die of the disease.Risk for breast cancer is higher in women with a family history of the condition. In fact, up to 10 percent of breast cancers are believed to have a hereditary basis. The most common inherited gene mutations associated with female breast cancer are BRCA1 and BRCA2. Researchers estimate women who carry one of these mutations have up to an 85 percent risk of developing breast cancer over their lifetime. These cancers often occur at a younger age than in women without the gene mutation. In addition to breast cancer, women with a BRCA1 or BRCA2 mutation have up to a 65 percent lifetime risk for developing ovarian cancer.Choosing Prophylactic Double MastectomyWomen who are at high risk for developing breast cancer (such as those with the BRCA1 or BRCA2 mutations) may take an unusual step to reduce their risk of breast cancer - prophylactic double mastectomy, or surgical removal of their breasts. Studies suggest, for women at moderate to high risk, prophylactic mastectomy can reduce the risk of breast cancer by up to 90 percent.Making the choice for a prophylactic mastectomy isn't easy. Most women have a great deal of emotional attachment to their breasts. Even with breast reconstruction, sexual partners may treat a woman differently. Women also face the risks associated with surgery, including pain, infection or development of complications.Deborah Lindner, M.D., an OB-GYN at Northwestern Memorial Hospital in Chicago, found out she was a carrier of the BRCA1 gene. She says that having the gene is not an automatic sentence of future breast cancer. However, a survey of other female blood relatives found 85 percent of the BRCA1 carriers developed breast cancer. With such a strong link and family history, she decided to have a prophylactic double mastectomy.Finding a surgeon who was willing to perform the procedure turned out to be a challenge. She was only 33, and many doctors told her she was too young to have the surgery. But with some persistence, she found a surgeon who understood her risk and sincerity at having the mastectomy.Lindner says women who have a strong family history of breast cancer should consider being tested for genetic mutations that may increase their personal risk for the cancer. Not all families are open about their medical history, so it may take some discussion to get details. If genetic testing indicates the presence of one of the mutations, women should seek advice from a genetic counselor and a surgeon/oncologist who has experience with breast cancer prevention methods.Sorting Through the OptionsThe Society of Surgical Oncology says prophylactic double mastectomy is justified in three groups of women: (1) those with a known mutation of a breast cancer gene, (2) those with a family history of breast cancer or ovarian cancer in several first-degree relatives or across several generations and (3) women with high risk breast conditions, like lobular carcinoma in situ. However, prophylactic mastectomy is not the only option. One study found many women who opted for the procedure were not fully prepared to deal with the results, like sorting through reconstruction options, pain, numbness and scarring. Women also often underestimated their final appearance after the surgery.Experts say women should consider all available options before deciding on an irreversible treatment. Here are some other options:Increased surveillance. Women at high risk for breast cancer need to be more diligent with monthly breast self exams. Clinical breast exams may be given once or twice a year starting in the early 20's. Annual mammograms may be initiated between 25 and 35. Some women may also be offered breast MRI exams. It's important for women who choose this option to understand it's really not a preventive measure. Instead, increased surveillance is meant to catch breast cancer in its earliest, and hopefully, more treatable stages. Researchers also point out that mammograms are less sensitive in young women. About 25 percent of high-risk women who opt for surveillance will eventually die of breast cancer.Chemoprevention. Chemoprevention is the use of drugs to reduce risk for cancer. Several drugs have been used for this purpose. Tamoxifen blocks the effects of estrogen on breast tissue. The drug may reduce the risk of breast cancer in high risk women by nearly 50 percent. However, side effects include an increased risk for endometrial cancer and blood clotting. Tamoxifen appears to be most helpful for women with the BRCA2 gene and less effective for those with BRCA1.Raloxifen, another medication that blocks the effects of estrogen on breast tissue, is approved for post-menopausal women. Risk of side effects appears to be lower with raloxifen than with tamoxifen.Aromatase inhibitors are currently being used to prevent recurrence in women who have been diagnosed with breast cancer.Prophylactic oophorectomy. Prophylactic oophorectomy is the surgical removal of the ovaries. The ovaries are the main source of estrogen production in the body. The American Cancer Society reports, in high-risk women, the procedure reduces the risk of breast cancer by about 50 percent. In addition, since women with a BRCA1 or BRCA2 gene mutation are at high risk for ovarian cancer, the procedure also reduces the risk for this condition. However, the surgery leads to immediate menopause-like symptoms, like hot flashes, vaginal dryness and night sweats.A resource organization for high-risk women who are considering their options is Bright Pink: http://www.bebrightpink.org For general information on breast cancer or prophylactic mastectomy: American Cancer Society National Cancer Institute The Society of Surgical Oncology
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