Understanding BRCA Test Results
Positive for a deleterious mutation means a BRCA1 or BRCA2 mutation that increases the risk of developing breast, ovarian, and certain other cancers was found.
No mutation detected means no known BRCA1/2 mutation was found. In families where someone has already tested positive for a BRCA mutation, a negative test result may be a “true negative.” In many circumstances the risk for cancer in the individual is no higher than the risk in the general population.
No mutation detected means no known BRCA1/2 mutation was found. In families with no identified BRCA mutation, family members with a negative test result may still be at high risk for cancer due to an unknown mutation or other risk factors that are undetectable by this test.
Genetic variant of uncertain significance means a gene change was found, but the cancer risk has not yet been determined with certainty.
Genetic variant, favor polymorphism means the test identified a common genetic change in BRCA1 or BRCA2 that is presumed, but not yet conclusively proven, to be unrelated to hereditary cancer risk. “Polymorphism” refers to benign genetic changes that are found in at least one percent of the general population and are not related to a significantly increased risk of disease.
If you think that cancer may run in your family, it is important to consult with a health care provider with training in cancer genetics. They have the expertise to help you sort through the complexities of cancer risk, identify which test is most appropriate for you, clarify the limitations of current genetic testing, and provide an accurate interpretation of your test results. Include the following questions in your discussion:
- Should I consider a BART test? (if you have previously tested negative before Aug. 1, 2006)
- Should I be tested for other gene mutations?
- Who else in my family may be at high risk for cancer?
- What screening and risk-reducing measures should I now consider?
Consider participating in clinical research studying other gene mutations linked to hereditary cancers. Visit the “Clinical Trials and Research” section of our website for more information. Finally, stay in touch with a genetics expert to learn when additional mutations affecting the risk of breast and ovarian cancer are discovered, and when new tests are available.
Finding a Genetics Expert
For information on finding an expert in cancer genetics, see the “Finding Specialists” section of our website.
Disclaimer: Health links are made available for educational purposes only. This information should not be interpreted as medical advice. All health information should be discussed with your health care provider. Please read our full disclaimer for more information.
This site has been made possible by a generous grant from Morphotek.