It may take a few weeks before test results are available. You meet with your genetic counselor to learn your test results, discuss their implications and go over your options.
Your test results may be positive, negative or uncertain.
Positive test result
A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn't have the mutation. But a positive result doesn't mean you're certain to develop cancer.
Follow-up care after a positive test result might include taking specific measures to modify the type and frequency of screening for cancer and to consider procedures and medications designed to reduce your cancer risk. What you choose to do depends on many factors — including your age, medical history, prior treatments, past surgeries and personal preferences.
Negative or uncertain test result
A negative test result means that no BRCA gene mutation was found. However, assessing your cancer risk is still difficult. The test result is considered a "true negative" only if it finds that you don't carry a specific BRCA mutation that's already been identified in a relative.
A negative test result doesn't mean you definitely won't get breast cancer. You still have the same cancer risk as that of the general population.
An ambiguous result, also known as a variant of uncertain significance, occurs when the analysis finds a genetic variant that may or may not be associated with an increased risk of cancer. It is helpful to meet with your genetic counselor to understand how to interpret this finding and decide on appropriate follow-up.
New models are being developed to help determine risk of cancer with ambiguous results. Most variants of uncertain significance are eventually reclassified into either a positive or negative result. To be informed when this happens, stay in touch with the doctor or genetic counselor who ordered your genetic test.
Although the BRCA gene test can detect the majority of mutations in the BRCA1 and BRCA2 genes, you could have a gene mutation that the test wasn't able to detect. Or you may be at high risk of hereditary cancer if your family carries a high-risk gene mutation that researchers haven't yet identified. Finally, your family may have another hereditary cancer gene mutation that can be detected with other genetic tests.
Researchers are continuing to study gene mutations that increase the risk of cancer and developing new gene tests. If your gene test was done more than five years ago, your doctor might recommend testing again with newer tests. If your family health history changes, such as if additional family members develop cancer, your doctor might also recommend additional gene testing.