Mutation positive: The mutation is found in the person tested
The likelihood of developing various cancers depends on the gene in which the mutation is found. In some cases, it depends on where in the gene the mutation is found. Other genes and environmental risk factors may change cancer risk. Other factors are:
- Test results give a probability, but not a certainty, of cancer development. They don't tell you when cancer may develop or the stage or grade of a potential tumor.
- Test results may help you be proactive about cancer surveillance or preventive measures.
- Some test results may not change recommendations for health management or cancer surveillance. But others may have an impact right away.
Ask your doctor whether positive test results will change your management or surveillance program.
Mutation negative: The mutation is NOT found in the person tested
If there is a known mutation in the family, then you are not at a higher risk of developing cancer based on that known mutation. If you belong to a certain ethnic group where common mutations have been found, then relatives should think about testing for all ethnic-specific mutations, not just the one present in the family.
If there is no known mutation, a negative test result is uninformative. The family may have a mutation in the gene tested that is not found with current technology. Or the family may have a mutation in a different gene, since many cancer syndromes are genetically heterogeneous (caused by mutations on one of several different genes).
Variant of uncertain significance
This means that an alteration in the DNA of a gene has been found. It is not known whether the change will, in fact, affect the function of the gene or influence cancer risk. Further studies may be needed. If a major family history is present, this result does not rule out a hereditary cancer syndrome in a family.