Current Environment:


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 Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis, Mosaicism

Recruitment Status


Detailed Description

This research study looks to enroll as many people with LFS or TP53 gene variants as possible in order to: Better estimate cancer risks in individuals with TP53 variants or LFS, which is a rare condition. Learn the range of cancer risks linked to TP53 variants to help individuals and families to improve our ability to counsel patients and families about cancer risks more accurately. Improve opportunities for cancer prevention, early detection, and treatment. Learn more about the meaning of TP53 variants in the blood that are not inherited (e.g. ACE/CHIP and mosaicism). Study procedures will include: Collecting information from the participant's medical record and short questionnaires. Collecting blood, saliva, eyebrow hair and tumor tissue samples (optional). Sharing study information with family members (optional). It is expected that about 1500 people will take part in this research study. Participants will be in this study until it closes or the participant withdraws consent. The National Cancer Institute is providing funding for part of this study and is considered a study sponsor. They will require that some of the genetic information be made available to the research community without personal identifying information.

Eligibility Criteria

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


Intervention Type

Intervention Name


Data and Specimen Collection



Min Age


Max Age


Download Date

March 20, 2024

Principal Investigator

Judy E. Garber, MD

Primary Contact Information

Judy E Garber, MD, MPH


Sophie Cahill, BS


For more information on this trial, visit


For more information and to contact the study team:

Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress NCT04541654 Judy E Garber, MD, MPH 617-632-5770 Sophie Cahill, BS 617-632-4795