What you need to know about the BRCA gene.
Actor and Director Angelina Jolie bravely announced in 2013 that she had undergone a double mastectomy after testing positive for the BRCA1 gene, a mutation that can indicate a higher risk of developing breast and ovarian cancer. Since then, countless other women have followed in her footsteps and proceeded with preventative surgeries. But how do you know if this decision is what’s best for you? I sat down with Jennifer Vasquez, a nurse practitioner at OU Health, to talk about genetic testing and the breast cancer (BRCA) genetic mutations. Vasquez spearheaded OU Health’s program offering Myriad MyRisk Hereditary Cancer Tests to its patients, and is currently working on her doctoral project on genetic mutations.
So, do some people have cancer in their genes?
Approximately 10% of cancers are from a hereditary genetic mutation. The Myriad MyRisk Hereditary Cancer testing is a multi-gene panel and checks for 48 different mutations that may put a patient at higher risk for various types of cancers. BRCA1 and BRCA2 are two of the genes on that panel; both of these mutations carry a very high risk for breast and ovarian cancer.
What is the process to be tested?
Patients will scan a QR code and ll in a cancer quiz which reviews their personal and family history to determine whether they are at higher risk of a genetic mutation. If the quiz indicates they are higher risk, testing is then done with either a blood or saliva sample and then sent to Myriad Genetics. Myriad does a prior authorization with the patient’s insurance and will contact them if they have any out-of-pocket cost. Results are usually returned within two weeks. I will schedule a follow-up visit to go over the results, and those who are positive for a mutation will go for formal genetic counseling and receive a referral to the appropriate clinic.
If the cancer quiz deems someone positive for being at higher risk, why is it important that they are screened for genetic mutations?
A lot of people have a fear that since they have cancer in their family, they will get cancer, too. This testing can check to see if they carry a hereditary genetic mutation. If they test positive, this is a way to be proactive and reduce the risk of ever getting cancer.
When someone is positive for BRCA1 or BRCA2, how likely is it that they will develop cancer?
Extremely likely. These women are at an 83% to 87% lifetime risk that they will develop breast cancer, and 40% to 63% lifetime risk that they will develop ovarian cancer.
Should all women who are positive for BRCA1 or BRCA2 follow Angelina Jolie’s lead and proceed with surgery?
The guideline for women who are positive for these genetic mutations is to do risk-reducing, preventative surgery once childbearing is done. This is usually between the ages of 35 to 45. These surgeries include a double mastectomy and a hysterectomy to remove the ovaries. If a woman is not finished having children, active monitoring for these cancers is important. Yearly breast MRIs starting at age 25 and adding a yearly mammogram to that at age 30 is typical. Women who are not actively trying to become pregnant are placed on an oral contraceptive pill to reduce the risk of ovarian cancer.
