Just about one American woman out of eight -- that's as many as 12 percent -- will be diagnosed with an invasive breast cancer in her lifetime (and guys, you're not in luck: For a man that risk is much lower, but there is still a risk -- about one American male out of 1,000 will develop breast cancer in his lifetime) [source: BreastCancer.org].
Roughly 211,700 women were diagnosed with breast cancer in 2009 alone, and 40,676 women died from a metastization of the disease that same year, according to U.S. Cancer Statistics (USCS) [source: CDC]. Some people have a higher risk for developing breast cancer than others, and those factors include your age and medical history (including: reproductive history, menstruation history, breast density, history of any benign breast disease such as breast calcifications, hormone therapy use, exposure to radiation and other variables such as your level of physical activity, your diet and how much alcohol you drink). Faulty genes also increase your risk of developing breast cancer and how early it develops. Since the late 1990s, genetic testing and counseling has been available for patients who want to know if they are predisposed to developing breast cancer because of their family history. It's estimated that if you're a woman with a BRCA1 (that's breast cancer 1, early onset gene) or BRCA2 (breast cancer 2, early onset gene) mutation, you're five times more likely to develop breast cancer during your lifetime compared to a woman with a normally functioning gene [source: National Cancer Institute]. One in 10 male breast cancers are associated with the BRCA1 mutation [source: BreastCancer.org].
Positive results from genetic testing may trigger many patients to consider risk-reducing measures, and some insurance companies consider preventive mastectomies to be medically necessary for high-risk women, although still experimental. Each insurance company's rules, each doctor's guidelines and each patient's needs vary, but women who are at high risk for breast cancer are those who have an early-onset breast cancer diagnosis, have a strong breast cancer and ovarian cancer inheritance pattern in the family, have radiation exposure and/or have tested positive for specific genetic mutations including BRCA1 or BRCA2.
Let's talk about what the BRCA gene is.
BRCA and Risk-Reduction Treatment
Having the BRCA genes isn't the problem. Everyone has these genes, and normal versions of them do not cause cancer; in fact, normally these genes act as tumor suppressors, and have an anti-cancer role in the body (they produce a protein that prevents or slows cancer cells from growing and dividing). But if you have an abnormal version of a BRCA gene, those genes that should be protecting you from cancer now increase your risk of developing breast cancer, especially early-onset breast cancer.
Roughly 5 to 10 percent of breast cancers are considered to be in the genes, most attributed to a BRCA gene mutation inherited from your mother or father, but testing positive for an abnormal BRCA1 or BRCA2 gene doesn't mean you'll be diagnosed with breast cancer; it means you're predisposed [source: BreastCancer.org]. If you have a BRCA1 mutation it means you have a 60 to 80 percent chance of developing breast cancer in your lifetime; similarly, if you have the BRCA2 mutation it means you have a 50 to 70 percent chance [source: Domchek]. Your risk of developing other cancers increases as well, including ovarian cancer. BRCA mutations aren't only a female problem, though -- these abnormal genes can also affect males, and can increase the risk of male breast cancer as well as prostate and pancreatic cancers [source: NCI].
Patients who undergo BRCA testing are given genetic counseling to help those who carry abnormal BRCA genes choose protective therapies; options currently include routine surveillance or preventive mastectomy. Endocrine therapy is also an option for women with hormone-susceptible breast cancer cells.
Breast cancer surveillance for those with abnormal BRCA genes offers a non-surgical way to catch breast cancer in its earliest and most treatable stages, and includes both breast imaging (for example, annual mammography or MRI scan) and breast examination (both self-examination and clinical). Healthy women who carry abnormal BRCA genes may also benefit from prophylactic -- preventive -- bilateral mastectomy. In fact, it may be today's most effective risk-reducing option. A 2011 study published in Annals of Oncology found that all premenopausal patients with hereditary breast-ovarian cancer syndrome who underwent prophylactic mastectomy remained cancer free for at least three years post-surgery, whereas between 7 and 13 percent of women in the surveillance-only group did have a breast cancer diagnosis within the same timeframe [source: Balmana].
The right option is an individual choice for each affected woman, and should be considered along with guidance from her medical team.
Another significant consideration is the cost of the testing and treatments. Simply evaluating risk via testing can cost thousands of dollars, and the criteria for covering the costs vary greatly among insurance companies. Patients wishing to pursue surgical treatment may find that such procedures are categorized as elective surgeries by their insurance carrier, and thus fall outside of their coverage.
Prophylactic Mastectomy and Breast Reconstruction
Between 1998 and 2005, the number of patients choosing preventive mastectomy doubled, an increase attributed to the availability of BRCA genetic testing beginning in the late 1990s [source: Tuttle]. But in 2013, a study published in the American Journal of Obstetrics and Gynecology suggested that women were more likely to choose preventive methods including prophylactic mastectomy based on their family history and personal experience than on the results of genetic testing alone [source: Singh]. And some women with a history of breast abnormalities or dense breasts may decide to undergo prophylactic mastectomy when numerous biopsies have heavily scarred or removed a significant amount of their breast tissue, despite testing negative for an abnormal BRCA gene.
There are a few different types of mastectomies, and a prophylactic mastectomy is one performed to reduce (or, hopefully, prevent) a high-risk patient's odds of developing breast cancer. Preventative mastectomy with removal of both breasts is thought to reduce the risk of developing an inherited breast cancer by as much as 90 to 95 percent depending on the type of mastectomy performed. It's not 100 percent effective because there's no guarantee that 100 percent of the cells targeted for removal will be removed during surgery.
A prophylactic mastectomy may be a total mastectomy (also called simple mastectomy), which is considered the most effective at breast cancer prevention. It's also used as a treatment in women diagnosed with a form of breast cancer called ductal carcinoma in situ (DCIS) [source: Lambert]. During a total mastectomy the entire breast is removed; the muscles from beneath the breast and the lymph nodes in the underarm area are left intact. It's called a bilateral mastectomy when both breasts are removed, and contralateral when one breast is removed.
For women who plan to have immediate breast reconstruction surgery, surgeons may use skin-sparing techniques during breast removal. During this type of surgery, the breast skin is left behind to be used in shaping the new breasts during reconstruction. Subcutaneous mastectomy may be performed to remove breast tissue while keeping the nipple intact.
Women who do not choose immediate reconstruction can expect a brief hospital stay, and should expect pain, bruising and swelling during healing. Drains will be placed under the skin, and sutures will typically remain in place for about a week to 10 days. Many women return to work and their normal routine in about one month, give or take a week or so.
Women who choose breast reconstruction undergo additional surgeries to rebuild the breasts (or a single breast, but more than 15 percent of breast cancer patients younger than 40 opted to remove a healthy breast at the same time as the diseased breast) after a mastectomy [source: Szabo]. Reconstruction options differ, but one common technique, for example -- the tissue flap reconstruction method -- borrows skin, fat and muscle tissue from the patient's own butt, stomach or back to recreate the breasts. Another method involves a saline- or silicone-filled, balloon-like device implanted under the skin and chest muscles.
Today, prophylactic mastectomy has an unproven survival rate, and because it's such a drastic option it remains a controversial procedure within the medical community and among women. In post-surgical follow-ups, many women expressed having felt uninformed about the pros and cons of the risk-reducing surgery when they made their decision, and the most frequent complaints from women who've undergone either bilateral or contralateral prophylactic mastectomy include insufficient information about post-mastectomy breast reconstruction and implants, and wishing they had more information about surgical complications (such as pain and scarring) as well as reconstruction options and what to expect during healing time [source: Rolnick].
Author's Note: How Prophylactic Mastectomies Work
Angelina Jolie's public discussion of the results of her BRCA genetic testing and subsequent bilateral mastectomy sparked conversation among women and within the medical community because she chose to have surgery before she was diagnosed with cancer. Mastectomy used as a prevention strategy for women who are at high risk for inheriting the disease may save lives, but we can do better in regard to the physical as well as the psychosocial well-being and needs of patients after choosing preventive surgery. It will be interesting to see if the increased public awareness of prophylactic cancer treatments gives a positive boost to not only the awareness of such options but research into new, less invasive treatments.
More Great Links
- Aetna. "Clinical Policy Bulletin: BRCA Testing, Prophylactic Mastectomy, and Prophylacctic Oophorectomy." May 14, 2013. (May 24, 2013) http://www.aetna.com/cpb/medical/data/200_299/0227.html
- Allain, Dawn C., Kevin Sweet, et al. "Management Options After Prophylactic Surgeries in Women With BRCA Mutations: A Review." Cancer Control: Journal of the Moffitt Cancer Center. Vol. 14, no. 4. Pages 330-337. 2007. (May 24, 2013) http://www.medscape.com/viewarticle/564536_2
- Balmana, J., O. Diez, et al. "BRCA in Breast Cancer: ESMO Clinical Practice Guidelines." Annals of Oncology. Vol. 22, suppl. 6. Pages vi31-vi34. 2011. (May 24, 2013) http://annonc.oxfordjournals.org/content/22/suppl_6/vi31.full
- BreastCancer.org. "Genetics." May 1, 2013. (May 24, 2013) http://www.breastcancer.org/risk/factors/genetics
- BreastCancer.org. "Prophylactic Mastectomy." May 16, 2013. (May 24, 2013) http://www.breastcancer.org/treatment/surgery/prophylactic_mast
- BreastCancer.org. "U.S. Breast Cancer Statistics." Oct. 30, 2012. (May 24, 2013) http://www.breastcancer.org/symptoms/understand_bc/statistics
- BreastCancer.org. "What Is Mastectomy?" May 16, 2013. (May 24, 2013) http://www.breastcancer.org/treatment/surgery/mastectomy/what_is
- Centers for Disease Control and Prevention -- National Program of Cancer Registries (NPCR). "United States Cancer Statistics (USCS)." Jan. 3, 2013. (May 24, 2013) http://apps.nccd.cdc.gov/uscs/
- Domchek, Susan. "7 Questions on Cancer Gene Testing." CNN. May 16, 2013. (May 24, 2013) http://www.cnn.com/2013/05/15/health/brca-expert-qa
- Heemskerk-Gerritsen, B.A.M., Menke-Pluijmers, et al. "Substantial Breast Cancer Risk Reduction and Potential Survival Benefit After Bilateral Mastectomy When Compared With Surveillance in Healthy BRCA1 and BRCA2 Mutation Carriers: A Prospective Analysis." Annals of Oncology. Vol. 24, no. 6. June 2013. (May 24, 2013) http://annonc.oxfordjournals.org/content/early/2013/04/09/annonc.mdt134.full
- National Cancer Institute. "Fact Sheet -- BRCA1 and BRCA2: Cancer Risk and Genetic Testing." May 29, 2009. (May 24, 2013) http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
- National Cancer Institute. "Genetics of Breast and Ovarian Cancer (PDQ): Introduction." March 4, 2013. (May 24, 2031) http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1
- National Cancer Institute. "Preventive Mastectomy." July 27, 2006. (May 24, 2013) http://www.cancer.gov/cancertopics/factsheet/Therapy/preventive-mastectomy
- Rolnick, Sharon J., Andrea Altschuler, et al.. "What Women Wish They Knew Before Prophylactic Mastectomy." Cancer Nursing. Col. 30, no. 4. Pages 285-291. 2007. (May 24, 2013) http://www.medscape.com/viewarticle/562030
- Singh, Krishna Jenny Lester, et al. "Impact of Family History on Choosing Risk-reducing Surgery Among BRCA Mutation Carriers." American Journal of Obstetrics and Gynecology. Vol. 208, no. 4. Pages 329.e1-329.e6. April 2013. (May 24, 2013) http://www.sciencedirect.com/science/article/pii/S0002937813000732
- Szabo, Liz. "'Preventive' Breast Cancer Surgery Has Some Docs Alarmed." USA Today. Oct. 17, 2011. (May 24, 2013) http://usatoday30.usatoday.com/news/health/medical/health/medical/breastcancer/story/2011-10-16/Preventive-breast-cancer-surgery-has-some-docs-alarmed/50796680/1
- Tuttle, T.M.; A. Abbott, et al. "The Increasing Use of Prophylactic Mastectomy in the Prevention of Breast Cancer." Current Oncology Reports. Vol. 12, no. 1. Pages 16-21. Jan. 2010. (May 24, 2013) http://www.ncbi.nlm.nih.gov/pubmed/20425603