Know What the Breast Cancer Gene Means to You


One in 400 women have a mutation in the BRCA gene, which is linked to both ovarian and breast cancer. The BRCA-1 gene, which Ms. Jolie carries, increases the risk of breast cancer to an estimated 87 percent. The risk of ovarian cancer increases to 50 percent.

The more answers a woman has about her risk of breast cancer, the better able she will be to make an informed decision about her care. Here are a few questions you may have about BRCA mutations and cancer.

What is a BRCA1 Mutation?

According to the National Cancer Institute, the BRCA gene produces suppressor proteins, which help repair DNA. When the gene becomes mutated, it’s not able to repair damaged DNA, resulting in genetic alterations that can lead to cancer.

Who should get genetic testing to detect a BRCA mutation?

“Any woman who has a family history of breast or ovarian cancer is at higher risk for carrying the BRCA mutation,” said Brett Parkinson, MD, imaging director of Intermountain Medical Center’s Janice Beesley Hartvigsen Breast Care Center.

This is especially true of women who have a first-degree relative—mother sister or daughter—who has had either disease. Especially concerning is a family history of one or more first-degree relatives with premenopausal breast cancer, a close male relative with breast cancer, or multiple relatives with either breast or ovarian cancer. “Women in that category should consider genetics counseling,” suggests Parkinson.

What happens if you are diagnosed with the gene mutation?

A positive test means you are at greater risk for developing breast or ovarian cancer in your lifetime. But there are ways to manage your risk.

“One of the first proactive steps a woman can take is to schedule breast cancer screenings more appropriately,” said Dr. Parkinson. “This may include starting yearly screening mammograms at an earlier age, because the earlier breast cancer is detected, the more successfully it can be treated.” 

Women who test positive for the BRCA gene should also undergo yearly MRI exams, as well as screening mammography. Of course, all women—even those of average risk—should begin annual screening mammography at age 40.

Another option may be similar to what Angelina Jolie chose to do – have the breast tissue removed from both breasts (known as a bilateral prophylactic mastectomy) and/or have the ovaries and fallopian tubes (known as a bilateral prophylactic salpingo-oophorectomy) removed as well.  

“Although we can effectively screen for breast cancer, and can find it in its earliest, most treatable stage, we have no effective screening test for ovarian cancer,” said Dr. Parkinson. “After a woman with the BRCA mutation is done childbearing, and before the age of forty, she should strongly consider bilateral oophorectomy.”

“There is no right or wrong decision,” said Dr Parkinson. “The decision is up to the woman, and the more information she has about risks and treatment options, the more equipped she will be to make the right decision for her and her family.”