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

Description

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).

Conditions

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

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Study Overview

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Study Details

Study overview

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).

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

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

Condition
Li-Fraumeni Syndrome
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Boston

Brigham and Women's Hospital, Boston, Massachusetts, United States, 02215

Boston

Judy E. Garber, Boston, Massachusetts, United States, 02215

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Dana-Farber Cancer Institute,

Judy E Garber, MD, MPH, PRINCIPAL_INVESTIGATOR, Dana-Farber Cancer Institute

Study Record Dates

2025-12-31