Genetic Testing


IPACTR

If you or your child have an adrenocortical tumor (ACT), your doctor or genetic counselor can order a genetic test to learn if you or your child have a TP53 mutation. A small sample of blood is sent to a laboratory for testing. The test uses chemistry to see if the DNA sequence of As, Gs, Cs, and Ts is in the usual order or if there are changes from what scientists expect to see. This type of testing finds about 95 percent of TP53 mutations.


Positive blood test

If you or your child’s blood test is positive for a TP53 mutation, it means the TP53 DNA sequence is different from normal. MostTP53 mutations increase the risk of cancer, including ACT. The potential for cancer risk has not been determined for every TP53 mutation. If you or your child have a mutation scientists have never studied before, your doctor might not be able to give you much information about the cancer risk for you, your child, or other family members. Your doctor and genetic counselor will talk about the test results with you.


Negative blood test

If you or your child’s blood test shows no TP53 gene mutation, other family members probably do not have an increased risk of cancer, including ACT.


Other results

You or your child’s blood test might show a change in TP53 called a polymorphism. This means that the TP53 gene is in a different order from most people’s, but the order is common enough to be considered normal. Having a TP53 polymorphism might or might not affect how the protein called p53 works. Although many polymorphisms do not cause health problems, some can affect you or your child's risk of getting a certain condition. Your doctor and genetic counselor will talk with you about the test results and answer any questions you have.

To Test or Not to Test

Testing Family Members