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, but not all physicians are aware of LFS. (See “What is LFS?” section.)

There are several published criteria for testing individuals for a TP53 variant, including the most recent- Revised Chompret Criteria. (See “Criteria for LFS” section.) If you or a family member meets criteria that indicate Li-Fraumeni syndrome or Li Fraumeni-like syndrome, you should 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 variant. 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 – whether or not to be tested for the genetic variants 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 may pose challenges, as well.

If your results are positive, that means you have a variation in the 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 variant to your children. (For more information please see the section, “Reproductive Concerns.”) It is possible that any siblings you have might have it, 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 a variant TP53 develop cancer early, and that there are increasingly more option for screening. LFS may be rare, but you are not alone!