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BRCA Gene Testing FAQs

BRCA gene testing shows whether you have inherited mutations in your BRCA1 or BRCA2 genes. Let’s answer some of the most common questions about BRCA gene testing to help you understand what it is and what it does.

What is the BRCA Gene?

All people have BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) genes, which help your body make proteins that repair damaged DNA. Normal BRCA genes make these tumor suppressing proteins to help keep your cells from developing abnormally. If you inherited a harmful mutation in your BRCA1 or BRCA2 gene, your body is less efficient at making tumor suppressor proteins, which makes it easier for cells to grow abnormally and develop into cancer. 

What is the BRCA Gene Test?

The BRCA gene test uses DNA analysis to identify mutations in two genes–BRCA1 and BRCA2. People who have mutations in these genes have an increased risk of some cancers compared to the general public. People who have inherited a harmful variant in BRCA1 and BRCA2 also tend to develop cancer at younger ages than people who don’t have the variant. 

Mutations in either breast cancer gene–BRCA1 or BRCA2–significantly increase the risk of (most notably) breast cancer and ovarian cancer, but also prostate cancer, pancreatic cancer, and melanoma.

The BRCA gene test is performed using a blood sample, saliva, or cells from the inside of your cheek. A doctor, nurse, or medical technician collects the sample and sends it to a lab for DNA analysis. If a gene mutation is detected, your doctor will work with you to understand your results and develop a plan to manage your risk.

Who should consider BRCA Gene Testing?

Anyone who is concerned that they may have a harmful variant of the BRCA1 or BRCA2 gene should talk to their doctor. However, testing is not currently recommended for the general public. Instead, it is recommended that testing be focused on those who have a family history of certain cancers.

What does a positive test mean?

A positive result does NOT mean that you're certain to develop cancer.

A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, which gives you a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn't have the mutation. 

If you have a positive test result, there are several options available for reducing cancer risk in individuals with a harmful BRCA1 or BRCA2 variant. Follow-up care after a positive test result might include developing a plan for more frequent cancer screenings and/or considering procedures and medications designed to reduce your cancer risk.

What does a negative test mean?

A negative test result does not mean that you will never get breast cancer.

A negative test result means that no BRCA gene mutation was found. However, you still have the same cancer risk as that of the general population. If your family health history changes, such as if additional family members develop cancer, your doctor might also recommend additional gene testing.

 

Discuss your family health history and concerns with your doctor, and together you can create a health plan that is right for you.