Genetic Test Results
It is important to understand the types of tests available and results that are possible with each to clarify expectations with patients, assess risk levels and plan surveillance and management strategies:
A full-sequence and/or large-rearrangement analysis of the gene or genes associated with an inherited cancer syndrome. Possible results include:
- Positive for Deleterious Mutation: A mutation is found that is known to be associated with an increased risk of cancer.
- No Mutation Detected: Patient does not have a known deleterious mutation within the genes specified. However, this does not rule out the possibility of a genetic abnormality undetectable by the methods used in the analysis, nor abnormalities in other genes that may be responsible for inherited susceptibility to cancer.
- Genetic Variant(s) of Uncertain Significance: In these cases a genetic abnormality is found, but with no known associated cancer risk. Genetic variants of unknown significance may require additional testing, with an amended follow-up report from Myriad when such a variant is reclassified.
Single Site (Mutation-Specific) Analysis
Examines a small portion of DNA specifically for a gene mutation(s) previously identified in another family member. Possible results include:
- Positive for Specified Mutation(s): The tested individual is found to carry the deleterious mutation previously identified in a family member, indicating an increased risk for cancer.
- Negative for Specified Mutation(s): The tested individual does not carry the deleterious mutation previously identified in a family member, and the patient can be considered to carry the same cancer risk as the general population. (In very rare cases more than one inherited mutation runs in a family, so a negative result would rule out only the specified mutation[s]).
Multisite Analysis (available for BRACAnalysis® only)
Available for people of Ashkenazi ancestry, this tests for the three most common abnormalities found in people of this heritage. Possible results include:
- Positive for a Deleterious Mutation: A mutation is found that is known to be associated with an increased risk of breast and ovarian cancer.
- No Mutation Detected: None of the three specific mutations in the BRCA1 or BRCA2 genes are found. (Note: Though the three mutations analyzed by this test account for most BRCA1 and BRCA2 mutations in Ashkenazi individuals, other mutations may exist in these genes. Individuals with negative test results may still be at high risk for hereditary breast and/or ovarian cancer. Reflex BRACAnalysis testing can help spot other mutations in the BRCA1 and BRCA2 genes.)