Genetic Testing for Breast Cancer

The announcement by actress Angelina Jolie that she underwent an elective, preventive double mastectomy after learning she carried a mutation of the BRCA1 gene has led to nationwide headlines and discussions of the role of genetic testing to assess the risk of breast and ovarian cancer, and the difficult choices facing those who test positive.BRCA1 and BRCA2 are normal genes which help stabilize cellular DNA and prevent uncontrollable cell growth.  Mutations in these genes can markedly increase the risk of breast or ovarian cancer. In general, breast cancers associated with the BRCA1 gene tend to be harder to treat than those associated with BRCA2.  Whereas about 7% of women will develop breast cancer by the age of 70, 50% of women with a mutated BRCA gene will develop the disease. For ovarian cancer, the incidence is 1% in the general population, and 30% in those who have BRCA mutations.It is important to emphasize that most breast and ovarian cancers occur in women who do not have these mutations; so genetic testing will only help a minority of women.  Therefore, it is recommended that only women with specific risks be screened. These are women with:-several relatives with either breast or ovarian cancer-breast cancer in any relative before the age of 50-a relative with breast cancer of both breasts-a male relative with breast cancer-Ashkenazi Jewish Ancestry and any relative with breast or ovarian cancer-a relative with a known BRCA mutationThe testing is easy-a blood sample sent from your physician’s office to a specialized lab is all that is needed. However, it may take weeks for the result to become available.  For those who test positive there is now an agonizing decision process. Do they elect to aggressively monitor their health in order to pick up any breast or ovarian malignancy as soon as possible OR do they choose a surgical option and remove a healthy part of their body through a serious surgery (with an intense recovery period and potential psychological effects from the loss of their natural breasts and the subsequent breast implantation procedure).  There is no “right” answer to this question.  For Ms. Jolie, it seems the right answer was to proceed with the surgery, for others it may be to watch and wait.For a fact sheet on genetic testing for breast cancer and ovarian cancer, visit www.cdc.gov/genomics/resources/diseases/breast_ovarian_cancer/quick_facts.htm . If you think you should consider being tested, discuss the pros and cons—as well as your thoughts as to what you would do if your test came back positive—with your primary care provider.