BRCA Test Results: What Do They Mean?

Getting tested for inherited mutations is the first step to knowing your BRCA status. Each type of result can mean something different for you and your family. Find out how a negative, positive, or ambiguous result can impact you.

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Three possible results

Positive Result for a BRCA Mutation Positive Result for a BRCA Mutation Positive Result for a BRCA Mutation

Positive result for a BRCA mutation:

A positive test result means that you have a genetic mutation in your BRCA1 or BRCA2 gene that is known to increase cancer risk. Knowing that you have a BRCA mutation can empower you to take action.

Talk to your doctor.

BRCA-mutated cancer may respond differently to certain cancer treatments, such as targeted therapy. If you have cancer, ask your healthcare team how your BRCA status may affect your treatment plan and what treatment options would be best for your care.

Inform your family.

Because some BRCA mutations are hereditary, the risk of developing cancer may be passed on to family members. Both female and male relatives may carry BRCA mutations and should be tested to assess their cancer risk. Finding out early could prompt them to get cancer screenings regularly.

Reduce the risk.

If you don’t have cancer, a positive BRCA result can help guide you and your healthcare team on ways to reduce your risk.

 
Negative Result for a BRCA Mutation Negative Result for a BRCA Mutation Negative Result for a BRCA Mutation

Negative result for a BRCA mutation:

A negative test sounds straightforward, but it could mean something different, depending on your family history.

If a close relative (for example, a sibling or cousin) has tested positive for a BRCA mutation, a negative test is considered a true negative. This means that you do not carry the BRCA mutation.

If no one in your family has tested positive for a BRCA mutation, but you have a family history of cancer, a negative result is not as straightforward. Genetic tests only detect inherited (germline) mutations. These tests do not detect acquired (somatic) BRCA mutations, the type of mutations not related to family. Acquired BRCA mutations can only be detected through tumor testing.

You may have a mutation in a gene other than BRCA1 or BRCA2. Your healthcare team may recommend more testing for other genetic mutations.

Negative Result for a BRCA Mutation Negative Result for a BRCA Mutation Negative Result for a BRCA Mutation

Negative result for a BRCA mutation:

A negative test sounds straightforward, but it could mean something different, depending on your family history.

 
Ambiguous Result for a BRCA Mutation Ambiguous Result for a BRCA Mutation Ambiguous Result for a BRCA Mutation

Ambiguous result for a BRCA mutation:

Some BRCA mutations found during testing are not known to increase the risk of cancer. This occurrence is often referred to as a “genetic variant of unknown significance.” As more research is done, scientists will learn more about these mutations and cancer risk.

If you’ve received this type of result, it's recommended by medical societies that you contact a genetic counselor every 12 months to see if any additional mutations have been discovered.

If you’re unsure whether or not you should get tested, see when BRCA testing can help.