Angelina Jolie did the medical world and women all over quite a service by stepping forward last month and shining a spotlight on BRCA status and testing.  She revealed that she is a carrier of the BRCA gene, and that she had undergone a complete bilateral mastectomy.  For those who are not yet familiar, the BRCA gene stands for “BReast CAncer” and encompasses a hereditary genetic mutation that is passed down through families.  If someone is a carrier of the BRCA gene, it increases their odds of getting breast and ovarian cancer in their lifetime.  Angelina was tested because her mother died of ovarian cancer, and her aunt had (and subsequently died from) breast cancer as well.

 

There are 2 types of BRCA genes that can be tested: BRCA1 and BRCA2.  Each one changes the odds a bit numerically, but the increased risk of breast and ovarian cancer over a lifetime remains.  Generally speaking, the risk of breast cancer in someone who carries the BRCA gene is 5 times that of the normal population, and the risk of ovarian cancer is 10-30 times higher.  Despite this, the rate of BRCA mutations in the general population is pretty uncommon, and these genes account for about 5-10% of breast cancer cases in women.  If you have a family history of breast and ovarian cancer, it may be worthwhile to see a genetic counselor and determine your risk for carrying this gene.  It can be tested by a simple (but expensive!) blood test, which could potentially be lifesaving.

 

As a diagnosis, it is a difficult one to know about.  There are young women in my practice who know that they are carriers of BRCA, and it puts tremendous pressure on them to have their families early so that the ovaries can be surgically removed before the age of 40.  Not to mention having both breasts removed is a difficult decision for any woman.  Each person’s clinical, social and emotional circumstances are different, so the decision to move forward with surgical treatment should be tailored to the individual.  Despite the fact that carrying this gene is very uncommon, the media attention surrounding Jolie’s announcement of her BRCA carrier status is a welcome one in increasing awareness of breast and ovarian cancer for everyone.