NCT04541654Recruiting

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

Dana-Farber Cancer Institute

Start Date

9/15/2020

Completion Date

12/31/2032

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).

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

Age Range: No minimum to No maximum

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

Interventions

GENETIC

Data and Specimen Collection

Interested in This Trial?

Contact the trial locations directly using the information below to learn more about enrollment.

Expressing interest lets you review the study and consent before we connect you with the research site.

Conditions

Li-Fraumeni SyndromeTP53 Gene MutationHereditary Cancer SyndromeClonal HematopoiesisMosaicism

Locations

Boston Children's Hospital

Boston, Massachusetts 02115

United States

Brigham and Women's Hospital

Boston, Massachusetts 02215

United States

Judy E. Garber

Boston, Massachusetts 02215

United States