Cancer Genetics and Prevention

When to Refer a Patient

Li-Fraumeni syndrome (LFS) is a hereditary condition which is often associated with a pathogenic or likely pathogenic variant (mutation) in the TP53 gene (TP53 positive genetic test result or TP53+ result). If your patient has a family history of multiple people on the same side of the family diagnosed with LFS cancers, especially at young ages, please refer the patient to our Li-Fraumeni Syndrome and TP53 Center.

We recommend our services to people who:

• Had genetic testing and have a TP53+ (aka pathogenic or likely pathogenic variant [mutation]) result 
• Have a relative who has a TP53+ result
• Have a cancer diagnosis suggestive of LFS
• Rarely, had tumor testing that found a possible hereditary TP53+ result
• Have a family history suggestive of LFS
• Have had negative or inconclusive genetic testing results, but are still concerned about LFS
• Have physicians concerned that they have LFS
• Are seeking information about LFS and TP53+ results

How to Refer a Patient

A patient's primary care physician or community specialist is an integral part of the patient's care team. We are committed to working with you in the long-term care of your patient with Li-Fraumeni syndrome and TP53+ results.

Find out more about how to refer a patient to our Center. Note: When selecting the "Diagnosis," choose the "Cancer Genetics and Prevention (Adult)" option.

Support for Providers

• Our staff is willing to travel to your clinic or hospital to deliver educational talks or attend tumor boards to lend expertise. Please get in touch if this would be helpful for your practice.
• We hold a monthly patient review via teleconference to review management recommendations for individual cases. If you would like to join to learn about the best management strategies on a case-by-case basis, please contact us.
• Certain individual cases may also be reviewed as a virtual consultation through Dana-Farber's Grand Rounds service. Please contact us to learn more.

Support for Genetic Counselors

For genetic counselors following patients with Li-Fraumeni syndrome and TP53+ results, please contact us to ensure your patients are receiving the most up-to-date and optimal care.

Related Resources

• NCCN guidelines for medical management for people with Li-Fraumeni Syndrome (create a free account)
• Patient Support Resources at Dana-Farber Cancer Institute
• Doctor-approved patient information from the American Society of Clinical Oncology (ASCO)
• LFSA (Li-Fraumeni Syndrome Association)
• Living LFS
• NCI LiFE (Li-Fraumeni Exploration) Research Consortium
• NORD (National Organization for Rare Disorders) (limited information)
• FORCE (Facing Our Risk of Cancer Empowered) — BRCA, TP53
• Bright Pink