BRCA Gene Testing

BRCA Gene Testing- Why am I having this test?

BRCA gene testing is done to check for the presence of harmful changes (mutations) in the BRCA1 gene or the BRCA2 gene (breast cancer susceptibility genes).

If there is a mutation, the genes may not be able to help repair damaged cells in the body. As a result, the damaged cells may develop defects that can lead to certain types of cancer.

You may have this test if you have a family history of certain types of cancer, including cancer of the:

  • Breast.
  • Ovaries.
  • Fallopian tubes.
  • Peritoneum.
  • Pancreas.
  • Prostate.

What kind of sample is taken?

The test requires either a sample of blood or a sample of cells from your saliva. If a sample of blood is needed, it will probably be collected by inserting a needle into a vein. If a sample of saliva is needed, you will get instructions about how to collect the sample.

What do the results mean?

The test results can show whether you have a mutation in the BRCA1 or BRCA2 gene that increases your risk for certain cancers.

Meaning of negative test results

A negative test result means that you do not have a mutation in the BRCA1 or BRCA2 gene that is known to increase your risk for certain cancers. This does not mean that you will never get cancer. Talk with your health care provider or a genetic counselor about what this result means for you.

Meaning of positive test results

A positive test result means that you have a mutation in the BRCA1 or BRCA2 gene that increases your risk for certain cancers. Women with a positive test result have an increased risk for breast and ovarian cancer. Both women and men with a mutation have an increased risk for breast cancer and may be at greater risk for other types of cancer. Getting a positive test result does not mean that you will develop cancer.

Talk with your health care provider or a genetic counselor about what this result means for you. You may be told that you are a carrier. This means that you can pass the mutation to your children.

Meaning of ambiguous test results

Ambiguous, inconclusive, or uncertain test results mean that there is a change in the BRCA1 or BRCA2 gene, but it is a change that has not been linked to cancer. Talk with your health care provider or a genetic counselor about what this result means for you.

Talk with your health care provider to discuss your results, treatment options, and if necessary, the need for more tests. Talk with your health care provider if you have any questions about your results.

How do I get my results?

It is up to you to get your test results. Ask your health care provider, or the department that is doing the test, when your results will be ready.

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