Who should be tested for LFS?
LFS might be suspected if someone has a personal or family history of cancer. Patients and families with multiple childhood cancers, members with multiple cancers, or specific rare cancers such as adrenocortical carcinoma or choroid plexus tumors should alert astute practitioners to a possible hereditary cancer syndrome such as LFS. Not all physicians are aware of LFS.
There are several published criteria for testing individuals for a p53 mutation, including the most recent- Revised Chompret Criteria. If you or a family member meets criteria that indicate Li Fraumeni Syndrome or Li Fraumeni Like Syndrome, you will probably be referred to a Genetic Counselor to discuss your genetic testing options. The Counselor will be able to help you weigh the risks and benefits of being tested for the mutation. Each individual has different perceived benefits and risks and each of these should be carefully considered before they pursue testing. This can be one of the biggest decisions people with Li Fraumeni Syndrome face is whether or not to be tested for the genetic mutations associated with the Syndrome. It is an intensely personal decision that each individual has to consider for themselves. The decision to proceed with genetic testing should be done after collaboration with your physicians, genetic counselor and/or family. It is important to discuss the implications of a positive or negative test before getting tested. Whether or not to inform and test children or healthy relatives poses many interesting challenges in this situation too.
If you are positive for the mutation, that means you have a copy of the mutated p53 gene and you are at an increased risk for developing cancer over your lifetime. You also have a 50% chance of passing along the mutation to your children. (For more information please see the section on Reproductive Issues.) It is possible that any siblings you have might have the mutation as well. Some people actually find the test results to be a relief, as they finally have an answer to why their family has faced so much cancer. The results can be stressful and devastating. It is important to remember that not all people who have the mutation develop cancer early and that there are increasing options for screening available. LFS may be rare, but you are not alone.