Thursday, April 21, 2005

No Mutation Detected

We met with Dr. Patricia Kelly on Wednesday (the Genetics Scientist). Dr. Kelly gave us the good news: the blood test results indicate "NO MUTATION DETECTED". What does that mean? The term NO MUTATION DETECTED is a negative result. This means the test did not find a mutation responsible for hereditary cancer risk in the genes my test analyzed.
How are genes and gene mutations related to cancer?
Genes carry instructions to make proteins. The proteins made from genes related to hereditary cancer risk are responsible for ensuring that cells divide normally. When one of these genes has a deleterious mutation - or harmful change - the protein it makes does not work properly. As a result, cells in certain parts of the body may divide unchecked - multiplying without stopping and eventually leading to a cancerous tumor.
How does a genetic test help determine the risk for hereditary cancer?
Genetic tests look for mutations in specific genes known to be associated with hereditary cancer risk. If a deleterious mutation is detected, it indicates that the individual is at increased risk for certain cancers. It also helps family members define their own risks for cancer by allowing them to be tested for the identified mutation.
For more information on Breast Cancer Risk Assessment: www.ptkelly.com

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