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 who decline to sign consent
Individuals who are unable to give consent or assent and are without a designated healthcare proxy
Dana-Farber Cancer Institute
Lead sponsor
National Cancer Institute (NCI)
Collaborator
City of Hope Medical Center
Collaborator
Baylor College of Medicine
Collaborator