Thursday, May 23, 2013
GENE MUTATIONS AND BREAST CANCER
On the op-ed page of The New York Times, the actress Angelina Jolie revealed she recently had a preventive double mastectomy, both breasts removed and then reconstructed. Her mother died of breast cancer at 56 and Jolie herself had been diagnosed with the inherited BRCA1 gene mutation, which significantly increases the risk of breast and ovarian cancer. And so, she writes: I decided to be proactive and to minimize the risk as much as I could. Of course, there are women everywhere who carry the same gene mutation as Angelina Jolie. The majority of breast cancers are not caused by a BRCA gene mutation. But if you do have the mutation, you're much more likely to develop breast or ovarian cancer. About five to seven percent of breast cancer and about 14 to 20 percent of ovarian cancer is due to a gene mutation - so, not the majority. And people who inherit a BRCA mutation are at very high risk for both cancers and also at somewhat higher risk for other cancers, too. There are national guidelines that determine who should and who will get the most benefit from a genetic evaluation. It's important to us to make sure people know that you should see an expert known as a genetic counselor, or a medical geneticist, in order to find out what your risk is, rather than just going out and getting a blood test. And if the chance of having a mutation is high enough, based on expert guidelines, most insurances will cover genetic counseling and genetic testing.