BRCA Testing

The BRCA test is a blood or saliva (spit) test that checks for inherited genetic changes (mutations). It looks for changes in your BRCA1 and BRCA2 genes. The tests are among the more common genetic tests for cancer. 

BRCA1 and BRCA2 genes protect your body from cancer by managing how fast cells grow. They also repair DNA damage that can turn normal cells into cancerous ones. Researchers first linked changes in these genes to breast cancer. They later learned the genetic changes also increase the risk of ovarian, prostate and pancreatic cancer.

The genetic change doesn’t mean you or your family members will have cancer. But it does increase cancer risk. There are ways to reduce that risk.

Who should have a BRCA test?

BRCA gene changes are rare. Between 1 in 400 and 1 in 800 people in the U.S. have them. Your healthcare provider may recommend the test if you or a close family member has:

• Breast cancer: Studies show the genetic changes increase breast cancer risk for women and men. Men with BRCA2 gene changes have a 1 in 10 chance they’ll have male breast cancer.
• Ovarian cancer: The American Cancer Society estimates that 3 to 7 out of 10 women who have a changed BRCA1 gene will have ovarian cancer. There’s a 1 to 3 chance out of 10 that a woman with a BRCA2 gene change will develop this cancer. The change also increases the risk of cancer in your fallopian tubes or peritoneum. 
• Prostate cancer: This gene change may play a role in prostate cancer that spreads from where it started. One study found 6% of men with metastatic prostate cancer had changed BRCA genes.
• Pancreatic cancer: Research shows people with these changed genes are four to seven times more likely to have pancreatic cancer. 

They may also recommend this test if:

• You have triple negative breast cancer, cancer in both breasts or develop breast cancer before age 50
• A close family member — your biological parents, siblings or children — has the genetic change
• You have Ashkenazi Jewish ancestry
• You have a family history of inherited disorders that increase your cancer risk (examples are Cowden syndrome, Fanconi anemia and Li-Fraumeni syndrome)

How does the BRCA test work?

Genetic counseling is the first step. A genetic counselor will discuss your potential risk based on your medical history and family medical history. They’ll explain the test process and answer your questions. They’ll understand that genetic tests can be stressful. Don’t hesitate to share your concerns. 

Then, you’ll have a saliva test or a blood test. In a saliva test, you spit into a tube. In a blood test, a healthcare provider takes a small sample of your blood.

Your provider will send the samples to a lab. A technician will check for genetic changes. It can take a few days to a week for them to complete their check. They’ll send the results to your provider.

What are the benefits and risks of this test?

There are several benefits. Knowing whether you have a BRCA gene mutation helps you better understand your cancer risk. The test can also provide your family with information that affects their health. 

There are more comprehensive genetic testing panels available with several genes analyzed in addition to BRCA1/BRCA2. Your genetic counselor can help guide you to which type of test is most appropriate in your case. 

There’s very little risk in giving a sample of blood or saliva.

What do my test results mean?

Your test result can be:

• Positive: You have the genetic change. It’s important to remember that the test result doesn’t mean you’ll get cancer.
• Negative: You don’t have the genetic change. Your cancer risk is the same as someone in the general population.
• Inconclusive: Tests detect a genetic change, but it’s not clear if the change increases your cancer risk.

What should I do if my test result is positive?

First, try to remember that a positive test result doesn’t mean you’ll have cancer. It does mean you’re more likely to have cancer than someone who doesn’t have a changed BRCA gene.

It can be stressful to learn you have a higher cancer risk than most people. You may feel depressed and anxious about the future. You may wonder what you can do to reduce your risk. Your genetic counselor and healthcare provider will have suggestions.

For example, if you smoke or use tobacco, they may suggest programs that can help you to quit. And you can take steps on your own to lower your risk by:

• Eating well: Fill your plate with lean protein and high-fiber foods.
• Avoiding carcinogens: Quitting tobacco use, cutting back on alcohol and protecting your skin reduces cancer risk. 

They may recommend specific cancer screenings and preventive treatments:

• Breast cancer: If you’re female, your providers may suggest you start regular mammograms earlier than usual. You may have more frequent mammograms and MRIs. Males may have annual mammograms.
• Ovarian cancer: There’s no approved screening test for ovarian cancer. You may take oral contraceptives to reduce your risk. Surgery to remove your ovaries or fallopian tubes may prevent the disease.
• Prostate cancer: Men may start prostate cancer screening earlier than usual.
• Pancreatic cancer: You may have ultrasounds and other imaging tests. The tests check for changes in your pancreas.

Your genetic counselor and healthcare provider will discuss whether your family members should have genetic testing and whether you need to follow up with a special clinic for surveillance. There’s a 1 in 2 chance that your biological parents, siblings and your children will have the same gene change.