What Are BRCA Gene Tests?

Recent media concerning actress Angelina Jolie and her decision to undergo a bilateral mastectomy after discovering a BRCA gene mutation has a lot of women wondering: What is the BRCA gene? What does a BRCA gene test reveal?

BRCA1 is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein. BRCA1 can be found in the cells of the breast and other tissues, where they help repair damaged DNA and destroy the cells in which DNA cannot be repaired. However, if BRCA1 itself is damaged this increases one’s risk for various cancers, because it cannot help repair damaged DNA.

BRCA2 (breast cancer type 2 susceptibility protein) is also a protein found in cells, although this protein belongs to the gene family that help suppress tumors through the repair of chromosomal damage. Similar to BRCA1, if this protein is damaged itself and not helping to support repair, one’s risks for various cancers are increased.

Several different types of BRCA gene tests are available. Some are tests that look for a known mutation that has already been identified in another family member, while others can check for all possible mutations in both genes. A blood or saliva sample is needed to provide the laboratory with DNA for the mutation testing. Upon arriving at the lab it is analyzed and you are then provided with the results/findings.

In Angelina Jolie’s case, she decided to undergo the test, and tested positive for BRCA gene mutations. She made an individual decision about how to manage her diagnosis. But, a celebrity speaking out on their own choice and diagnosis does not make it the right option for everyone. Every woman is different, and any woman considering a BRCA1 and BRCA2 gene test should consult with their primary caretaker.