Healthcare providers are a trusted resource for individuals with TP53 mutations who either have Li-Fraumeni syndrome (LFS) or acquired TP53 variants associated with “ACE” or “CHIP.” The LiFT UP study is interested in trying to help clarify, for each patient and family, their situation and ultimately, individualized cancer risks.
We hope that you will encourage your patients with LFS and TP53 variants to enroll in the LiFT UP Study to help us improve care for these populations.
If the patient and/or family is already part of LFS research with you or other investigators, they may still participate in the LiFT UP Study. Please contact us to ensure that you receive proper credit in study publications if you are willing to help us to enroll your patients onto the study. Please feel free to contact us with any questions or concerns about patient enrollment.
Our study team is happy to discuss appropriate follow-up testing and other resources for your patient’s management and care. Please contact us if you would like to review any patient cases and resources available.
Recent data shows different cancer risks for individuals with TP53 mutations found as part of multi-gene panel testing compared to those found when tested based on suspicion for Li-Fraumeni syndrome. In the LiFT UP study, we will try to improve risk prediction for patients and families with germline TP53 mutations (LFS), and those with TP53 mutations acquired later in life (ACE/CHIP).
Our goals are to learn: more about Li-Fraumeni syndrome (LFS); how to better predict cancer risk for people with LFS; and how to determine whether a TP53 variant is germline (LFS), acquired after exposure to chemotherapy or cigarette smoke, or with age (ACE/CHIP, etc.), or mosaic.
To achieve these goals, we will need to enroll as many individuals with TP53 variants and their families as possible. If your patients request your help with obtaining their genetic test results, pertinent medical records, or paraffin or blood specimens for the study, please help if you can. Please contact us for assistance.
Your patient may be eligible to participate in the LiFT UP Study if:
- Your patient has a TP53 likely pathogenic or pathogenic variant found on genetic testing. The TP53 variant may be clearly germline or may indicate “possibly mosaic” or “low level” variant. The patient may be the first in his/her family to be found to have the TP53 variant or may be only the most recent family member to test positive.
- Their relative has a TP53 variant but your patient is age 18 or older and has not tested negative him/herself.
How to refer patients
Please share our website with your patients or contact us using the information below.
If you have any questions about the study, TP53 variants, or LFS, please reach out to the LiFT UP Study team at either of our sites:
City of Hope
Stephen B. Gruber, MD, PhD, MPH, Vice President, City of Hope National Medical Center
Dana-Farber Cancer Institute
Judy E. Garber, MD, MPH Chief, Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute