Means that the laboratory for a mutation that this known to affect the function of the gene.
A positive result may:
- Confirm the diagnosis of a hereditary cancer syndrome
- Have an increased risk of developing certain cancer(s) in the future
- May impact medical management recommendations.
- Be important information for family members to determine if they want genetic testing to learn if they are at increased risk (if they have the mutation) or if they are at general population risk (if they did not inherit the known mutation).
- For those who have already been diagnosed with cancer, a positive result may influence how the cancer is treated. Some medications are recommended for individuals with certain types of mutations. Knowing about the genetic disorder before treatment begins allows doctors to modify the treatment.