Angelina Jolie made headlines a couple of years ago when she had elective surgery due to testing positive for BRCA. What is BRCA? BRCA refers to a gene. When patients are referred to as positive, this generally means they have a mutation of the BRCA gene. Patients with the BRCA gene are at much higher risk of developing cancer than the general population.
The two common mutations are BRCA 1 and BRCA 2. Patients with the BRCA 1 gene have about a 65 percent risk of developing breast cancer by age 70 and 40% risk of developing ovarian cancer for the same age. For BRCA 2 carriers the risk is about 50% for breast cancer and 20% for ovarian cancer. The BRCA gene has also been linked to pancreatic cancer.
The gene is inherited in an autosomal dominant fashion. So this means that a patient only needs to get one copy of the gene to be considered a carrier. As people inherit a copy of each gene from mother and father, it could come from either parent. It’s important to note not everyone who carries this gene will develop cancer, and most patients with breast or ovarian cancer do not have the BRCA gene.
What is the benefit of testing? If patients are BRCA positive, they can opt for increased surveillance for cancer. This could include starting mammograms at a younger age, and having other imaging like MRIs and ultrasounds. Furthermore, some patients might elect to have risk reducing surgery, as in Jolie’s case.
As most people are not BRCA carriers, we generally do not advise patients to get tested. However, patients with a strong family history of certain types of cancer, on either side of the family, should be counseled and offered BRCA testing.
Testing for the gene has been around for several years now, however previously one company had a patent on the test. This was challenged and now multiple labs offer the BRCA test which has brought the cost down. Speak to your healthcare provider today if you think you may be a candidate for the BRCA test.