Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress

Launched by DANA-FARBER CANCER INSTITUTE · Sep 4, 2020

Keywords

ClinConnect Summary

The LiFT UP clinical trial is designed to learn more about the TP53 gene, which is linked to a condition called Li-Fraumeni Syndrome (LFS) that increases the risk of certain cancers. This study aims to understand different variations of the TP53 gene found in blood that could be related to LFS, other hereditary cancer risks, and conditions like clonal hematopoiesis or mosaicism. Researchers are currently looking for participants, including individuals who have a TP53 gene variant, their family members, or anyone meeting specific criteria for LFS, regardless of whether they have the gene variant.

If you join the study, you can expect to provide blood or saliva samples, and possibly share information about your family history related to cancer. It’s important to know that even if you are part of another study about LFS, you can still participate in this one. However, you will need to agree to participate by signing a consent form, and if you cannot do this yourself, you will need a healthcare proxy to help. Your involvement could contribute to a better understanding of hereditary cancer risks and help improve care for others in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Individuals with a TP53 pathogenic or likely pathogenic variant identified in blood or saliva,
• • Individuals with variants of uncertain significance in TP53 may be eligible at the PI's discretion,
• • Blood relatives of individuals with a TP53 variant, who may be presumed obligate carriers or healthy controls,
• • Individuals who meet Classic or Chompret LFS criteria whether or not they have a TP53 gene variant,
• • Individuals may enroll their deceased relatives in the study.
• • Individuals with a known TP53 variant that is not LFS, but rather ACE, CHIP, or mosaicism.
• • Individuals participating in other LFS studies can still enroll in LiFT UP. Investigators may be collaborators.
• Exclusion Criteria:
• • Individuals who decline to sign consent
• • Individuals who are unable to give consent or assent and are without a designated healthcare proxy