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.