Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).
• 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.