BRCA Genetic Test

BRCA is short for 'breast cancer gene.' A BRCA genetic test uses a sample of your blood, saliva (spit), or cells from inside of your cheek to look for changes in your BRCA1 and BRCA2 genes. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent.

Genes carry information that controls what you look like and how your body works. BRCA is a type of gene called a 'tumor suppressor.' Tumor suppressor genes provide instructions for making proteins that help prevent or slow the growth of cells that may become tumors. The proteins work by: Preventing cells from dividing too quickly to make new cells.; Repairing damaged DNA in cells.; Starting the normal process of cell death in cells that can't be repaired.; If you have certain changes (or variations) in a BRCA gene, the gene or the protein it makes may not work well or may stop working completely.

As a result, your cells may grow and divide out of control, which can lead to tumors and cancer.

Why this test is done

Harmful variations in the BRCA gene are rare. They affect only about 0.2% of the U.S. population. So, BRCA testing is not recommended for most people.

You and your family members are more likely to have a BRCA1 or BRCA2 variation if either side of your family has a strong history of:

• Female breast cancer diagnosed under the age of 50.
• Triple negative breast cancer (an especially aggressive form less likely to respond to treatment) diagnosed under the age of 60.
• Male breast cancer.
• Cancer of the ovaries, fallopian tubes (tubes connecting the ovaries to the uterus), or peritoneum (tissue that covers your belly organs).
• Prostate cancer that spreads to other parts of the body (metastatic cancer).
• Pancreatic cancer.

If you're concerned that you may have a harmful variant in the BRCA1 or BRCA2 gene, your health care provider or a genetic counselor can review your personal and family health history to see if you need this test.

You should also talk to your provider about testing if you've had any of these cancers and/or are of Ashkenazi (Eastern European) Jewish descent. BRCA variations are much more common in those with Ashkenazi Jewish ancestry compared with the general population.

How to prepare

• For a blood test: You don't need any special preparations.
• For a saliva test: A half hour before the test, you may need to stop eating, drinking, or smoking. Follow all the instructions your provider gives you or the instructions in an at-home kit.
• For a cheek swab: You may be asked to rinse your mouth before the test.

With any type of genetic test, you may want to meet with a genetic counselor first to see if testing is right for you. Your counselor can explain the pros and cons of learning more about your cancer risk. After your test, a counselor can help with the medical and emotional impact that your results may have on you and your family.

Sample type

Blood Saliva

Other names for this test

BRCA gene test, BRCA gene 1, BRCA gene 2, breast cancer susceptibility gene1, breast cancer susceptibility gene 2