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

Summary

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).

Eligibility

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

Conditions6

Locations3 sites

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