Celebrities Increase Awareness of BRCA Gene

Health Minute

It's easy to get the care you need.

See a Premier Physician Network provider near you.

When Angelina Jolie decided to undergo a double mastectomy in 2013, it thrusted BRCA1 and BRCA2 – breast cancer susceptibility genes – into the spotlight.

About two decades ago, scientists discovered that the mutation of BRCA1 and BRCA2 genes is responsible for the development of some forms of breast and ovarian cancer. Jolie’s announcement about her personal experience along with more readily-available genetic testing has helped put the issue at the forefront of some women’s minds.

The increased awareness, however, has also come with some misunderstandings, said Dr. Thomas Heck, a surgeon at Gem City Surgical Associates

“There is a misconception because everyone would like a blood test or something easy to tell them whether they have cancer in their bodies. A lot of people hear about movie stars having the BRCA test done, and they decide they would like to do it because they want to know if they have cancer,” said Dr. Heck, a physician with Premier HealthNet. “Women need to know that this is not a screening test, and they also need to be wary of any test that might be offered to them outside of the comprehensive care of a physician and geneticist.”

BRCA1 and BRCA2 genes help regulate cells in the body so they divide correctly, he said.

“If these genes are working properly, then everyone is happy,” Dr. Heck said. “But if they are mutated or broken, then the cells can get out of control, and that is what we call cancer.”

Up to 65 percent of women who inherit a harmful BRCA1 mutation and about 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70, according to the National Cancer InstituteOff Site Icon (NCI). About 39 percent of women who inherit a harmful BRCA1 gene and up to 17 percent of women who inherit a BRCA2 mutation will develop ovarian cancer by age 70.

However, every woman who develops breast or ovarian cancer is not a carrier of the BRCA genes. Only about five percent of breast cancers and 10 percent to 15 percent of ovarian cancers are caused by BRCA1 and BRCA2 mutations, according to the NCI. For that reason, only women who fit the National Cancer Comprehensive NetworkOff Site Icon (NCCN) criteria are tested for the genes.

“When I see a patient for the first time who has never been diagnosed with cancer, but she is here to be evaluated for a breast lump or an abnormal mammogram, part of our workup is inquiring about her past history and family history to see if she should undergo more evaluation to determine if she is a good candidate for the gene testing,” Dr. Heck said. “There are very strict criteria that must be met beforehand because you do not know the implications it could have for the patient.

The criteria set by the NCCN helps surgeons like Dr. Heck focus on patients with certain family histories, including:

  • A woman who has a male family member with breast cancer
  • A patient who has a family member 45 years old or younger with breast cancer
  • A patient with more than one family member on the same side of the family with cancer

Certain ethnic backgrounds and people who have had other forms of cancer are also factors that could be considered.

Though women might have seen ads for at-home genetic testing kits, Dr. Heck stressed the importance of women seeking the care and guidance of a team of caregivers, including a surgeon and genetic counselor before and during the genetic testing process.

The U.S. Food and Drug AdministrationOff Site Icon and the Centers for Disease Control and PreventionOff Site Icon all caution against the use of such kits.

Even though the genetic testing is done with a simple blood test, there can be physical, emotional and financial effects of knowing your genetic status. Having the right genetic counseling can help women learn about their options and the other cancer risks associated with BRCA1 and BRCA2 mutations.

To learn more about BRCA1 or BRCA2 genes, talk with your physician, or find a Premier Physician Network physician.

It's easy to get the care you need.

See a Premier Physician Network provider near you.