The results of genetic testing for inherited cancers can bring up a variety of emotions, regardless of the outcome. Your emotions may include feeling better about understanding the cause of cancer in your family, feeling concerned about the cancer risk you and your relatives have, and feeling motivated to learn about your options for dealing with your cancer risk.
Whatever your feelings are, talk about them with the friends and family you trust. Most importantly, talk about your feelings with your doctor, who can suggest counseling options, support groups and other resources to help with the adjustment. Regardless of the outcome of your test, your results can help you make positive changes in your life.
Myriad currently offers BRACAnalysis® testing for inherited breast and ovarian cancer; COLARIS® testing for inherited colorectal and endometrial cancer ( HNPCC); COLARIS AP® testing for inherited colorectal polyps and cancer (adenomatous polyposis syndromes) and MELARIS® testing for inherited melanoma and pancreatic cancer. There are three types of tests available: Comprehensive, Single Site and Multisite Analysis (Multisite Analysis is available for BRACAnalysis® only).
Possible Test Results
Comprehensive Analysis
Comprehensive Analysis is a full-sequence and, in many cases, large rearrangement analysis of the gene or genes associated with a specific inherited cancer syndrome. Possible test results include:
- Positive for a deleterious mutation - Means that a mutation has been found that is believed to increase the risk of developing certain types of cancer.
- Genetic change of uncertain significance - Means that a gene alteration has been found but cancer risk has not yet been determined with certainty.
- No mutation detected -- No mutations found in the gene or genes. This does not mean you have no risk for cancer. You may still be at high risk for developing cancer because of gene abnormalities that cannot be detected by this test, or because of other gene mutations less commonly responsible for hereditary risk of these cancers.
Single Site (Mutation-Specific) Analysis
When a gene mutation has been previously identified in another family member, this test will examine a small portion of the DNA specifically for that mutation. Possible results include:
- Positive for specified mutation - Means that the specific mutation designated by your physician has been found. This may be a mutation that was previously identified in a family member. Such a result indicates that you are at an increased risk for certain types of cancer.
- Negative for specified mutation - Means you do not have the specific mutation designated. However, even if it is determined that you do not carry a mutation known to run in your family, you still have the same risk for developing breast and/or ovarian cancer as the general population. There are rare instances in which more than one inherited mutation runs in a family. In such cases, a negative Single Site Analysis result only rules out one familial mutation.
Multisite Analysis (available for BRACAnalysis® only
Multisite Analysis is only available for BRACAnalysis®. This test is for people of Ashkenazi ancestry. It tests for the three most common abnormalities found in people of this heritage. Possible results include:
- Positive for a deleterious mutation - Means that a mutation has been found that is believed to increase the risk of developing breast and ovarian cancer.
- No mutation detected - Means that none of the three specific mutations in the BRCA1 or BRCA2 genes were found. It is important to remember that although the three mutations analyzed by this test account for most BRCA1 and BRCA2 mutations in individuals of Ashkenazi ancestry, other mutations may exist elsewhere in these genes. People with negative Multisite 3 BRACAnalysis® test results may still be at high risk of hereditary breast and/or ovarian cancer due to other changes in BRCA1 or BRCA2 genes. Reflex BRACAnalysis® testing can help look for other mutations in the BRCA1 and BRCA2 genes.