Should I get tested for the breast cancer gene?


by Rachel Burt, Women’s Health Nurse Practitioner at Roswell OB/GYN…………………………………

I cannot thank Angelina Jolie enough for going public with her decision to have a double mastectomy after discovering she carries the BRCA1 gene.  I can only hope that greater awareness helps us to identify women at greatest risk for breast and ovarian cancer. However, I do want to use this forum to provide some more information about who should get tested for the gene.

The CNN piece discusses Jolie‘s personal decision to have a double mastectomy. We learn that Jolie’s mother died of ovarian cancer in her 50s.  Knowing this part of Jolie’s family history, her healthcare provider likely suggested she be tested for the BRCA gene.   When she discovered she was positive for the BRCA1 gene, she was likely counseled on her increased risk for ovarian and breast cancer.  In consideration of her increased risk for breast cancer, she decided to have a double mastectomy. The story makes most people wonder – should I get tested too?

I am so thankful for the media and Angelina for bringing the issue to the forefront of discussions, but these articles failed to explain who should be tested for the gene.   It is important to understand that only 3-5% of all breast cancers are due to the BRCA1 or BRCA2 genes.  BRCA1 and BRCA2 mutations are responsible for 10% of ovarian cancers. According to the government web site, the percentage of people in the general U.S. population that have any mutation in BRCA1 has been estimated to be between 0.1 – 0.6 percent.

What does this mean –

*The majority of people who get breast and ovarian cancer do not carry the gene.  This is important to understand – BRCA1 and BRCA2 carriers are at significantly higher risk for developing breast cancer in contrast to the general population.  But, if you are not a BRCA1/2 carrier it does not mean you will never get breast cancer.  It is important to keep up with your yearly clinical breast exams and regular mammograms even if you do not carry the gene.

*If it is so rare, then who should get tested for the gene? It is important to talk with your health care provider about your family history.  Family history and ethnic ancestry helps us determine who is the most appropriate to test for the gene. You many be a candidate for gene testing if you or your family member had:

  • breast cancer before age 50
  • ovarian cancer at any age (not cervical)
  • both breast and ovarian cancer, 2 or more people in one family with breast cancer with at least one person under age 50
  • male breast cancer
  • women of Ashkenazi jewish descent with breast or ovarian cancer
  • anyone with a family member who has the BRCA gene

If you meet any of these criteria, it is important to talk with your healthcare provider about being tested.  My patients often ask why they should be tested. I believe in knowledge that enables you to take action.  Learning of a women’s BRCA1 or BRCA2 status enables us to provide options including – medication management, increased surveillance or surgery. Angelina Jolie decided to take the most definitive action – removal of the breast tissue.  I am interested to hear how she decides to address the increased ovarian cancer risk.  But, surgery is not the only option.  Increased surveillance in the form of MRIs, mammograms, ultrasounds and blood work can help with early detection.  In women who have not finished having children, they often ask why they should be tested if they are not ready to have their ovaries or breasts removed.  It is important to understand that  increased surveillance can help with early detection of cancer. Later in life, once childbearing is done, some women may decide to take more definitive action such as surgery.  It is important to understand that women with BRCA1 or BRCA2 have other options besides surgery.

Please contact our office and schedule an appointment with your provider if you have any questions or concerns at 770 751 3600.

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