Understanding the BRCA gene mutation and options you can pursue

We get a lot of things passed down from our parents through genetics. Among them are tumor suppressor genes called BRCA genes (with the “BRCA” standing for “breast cancer”). Two essential subtypes are BRCA1 and BRCA2.

But while these genes are actually protective against cancer, mutations can occur that cause BRCA1 and BRCA2 not to work effectively, resulting in an increased risk of breast cancer.

“A BRCA gene mutation means that your BRCA1 or BRCA2 gene no longer acts normally. The mutation can cause a greater likelihood of cells dividing in an uncontrolled fashion, which increases the risk for breast and ovarian cancer,” explains Shelly Beckley, an oncology nurse practitioner and clinical support lead for Outcomes4Me, a patient empowerment platform that helps cancer patients navigate their care and gain access to personalized treatment options.

Inheriting a mutated BRCA gene doesn't automatically mean you will develop cancer, but it does mean you have a higher risk.

“Knowing that you have a BRCA mutation allows you to undergo closer surveillance. This is important, since approximately 50% to 70% of women with BRCA mutation will get breast cancer by age 70,” notes Jonathan Stegall, MD, an integrative oncologist in Atlanta. He adds that it is estimated that approximately 3% of breast cancers are due to a BRCA mutation.

Fortunately, BRCA gene mutations can be identified via a simple blood test, with results usually available within two to three weeks. Stegall says this test is quite reliable, although there are rare instances of false positives and false negatives.

Many women are good candidates for BRCA testing, including those with a strong family history of breast or ovarian cancer.

“In addition, women who have a personal history of breast or ovarian cancer and are now cancer-free are advised to be tested. Also, women of Ashkenazi Jewish ancestry should also be tested since they are at higher risk for having a BRCA mutation,” Stegall continues.

Anita Johnson, MD, FACS, chief of surgery and leader of the Women's Cancer Center at Cancer Treatment Centers of America Atlanta, also recommends that BRCA gene mutation testing should be repeated if you have a history of recurrence or have had testing performed more than seven to 10 years ago.

“Thankfully, only about one in 400, or 0.25% of the population, has the BRCA gene mutation,” says Johnson.

Liz Hunter Brack, RN, a 27-year-old in Newnan, Georgia, says she and her sister had a 50-50 chance of being carriers of the BRCA mutation, as their mother and grandmother both tested positive for it back in 2007 after they both battled breast cancer at a younger age.

“My sister and I received the same testing around 20 years old and were both positive for the mutation,” she says. “It is a blessing and a curse, this mutation, because now that we are educated and aware we can stay ahead of the risks. We look at it in a positive light and are very thankful we have been able to take better control of the situation.”

If you test positive for a BRCA gene mutation, Johnson advises finding a physician who specializes in high-risk assessments.

“After a positive test finding, most providers will recommend more frequent screening and clinical breast exams, including mammography and breast MRI. Another option for patients is a medical strategy in which medication is taken daily to lower the risk of getting breast cancer,” she says. “The most invasive approach involves risk-reducing mastectomies. In some cases, all the skin, including the nipple-areolar complex, can be saved with immediate reconstruction surgery performed on the same day.”

The degree to which you want to pursue any of these proactive options is up to you.

“The decision will largely be based on your individual preference and your comfort level with each option,” says Stegall.

Keep in mind that just because you may have inherited a bad gene does not mean you have no say in whether or not that gene is active.

“I always tell my patients that their DNA is not their destiny,” Stegall adds. “We know that good habits, such as high-quality nutrition, sufficient sleep, regular exercise, and routine stress reduction practices, play a key role in making sure our bad genes are turned off and are good genes are turned on.”