RecruitingNCT04541654

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

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

Sponsor

Dana-Farber Cancer Institute

Enrollment

1,500 participants

Start Date

Sep 15, 2020

Study Type

OBSERVATIONAL

Conditions

Hereditary Cancer Syndrome Li-Fraumeni Syndrome TP53 Gene Mutation Clonal Hematopoiesis Mosaicism

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 Criteria7

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 Criteria2

Individuals who decline to sign consent
Individuals who are unable to give consent or assent and are without a designated healthcare proxy

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Interventions

GENETICData and Specimen Collection

* Provide research team and access to relevant medical records * Answer short questionnaires periodically * Consider consenting to other optional parts of the research such as: * Providing up to 3 tubes (15ml) of blood at or near the time of consent, as approved by treating physician (optional). * Provide a saliva sample (optional). * Provide eyebrow hairs for analysis of DNA from the bulb (15-20 eyebrow plucks) (optional). * Provide permission for obtainment of stored tissue specimens from cancer or pre-cancer surgeries or biopsies from the pathology departments where they have been stored (optional). * Consider inviting relatives to join the study (optional).