Recruiting

TP53 Variants

Sponsor:

Dana-Farber Cancer Institute

Code:

NCT04541654

Conditions

Li-Fraumeni Syndrome

TP53 Gene Mutation

Hereditary Cancer Syndrome

Clonal Hematopoiesis

Mosaicism

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Data and Specimen Collection

Study Details

Brief 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).

Conditions

Li-Fraumeni Syndrome

TP53 Gene Mutation

Hereditary Cancer Syndrome

Clonal Hematopoiesis

Mosaicism

Study ID

NCT04541654

Start date

Sep 15, 2020

Status verified date

Mar, 2026

Completion date

Dec 31, 2032

Anticipated

Primary completion date

Dec 31, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Arms

Variant in the TP53 Gene in blood or saliva

Variant in the TP53 gene found on a blood or saliva test, have a relative with a variant in the TP53 gene, or because participant meets genetic testing criteria for Li-Fraumeni Syndrome (LFS) based on personal or family cancer history

Interventions

Data 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).

Primary outcome measure

  • Repository of specimens and data [ Time Frame: 5 years or Study closure ]

Central Contacts and Locations

Central contacts

Judy E Garber, MD, MPH

617-632-5770jegarber@partners.org

Sophie Cahill, BS

617-632-4795Sophie_Cahill@DFCI.HARVARD.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

JUNNE KAMIHARA, MD

888-733-4662jkamihara@partners.org

Principal Investigator:

JUNNE KAMIHARA, MD

Brigham and Women's Hospital

Recruiting

Boston, Massachusetts, United States, 02215

Contacts

Judy Garber, MD, MPH

617-632-2282jegarber@partners.org

Principal Investigator:

Judy Garber, MD, MPH

Judy E. Garber

Recruiting

Boston, Massachusetts, United States, 02215

Contacts

Judy E. Garber, MD, MPH

617-763-8821judy_garber@dfci.harvard.edu

Principal Investigator:

Judy Garber, MD, MPH

More Information

Sponsor

Dana-Farber Cancer Institute

Last update posted

Mar 27, 2026

Last verified

Mar, 2026

Keywords

  • Li-Fraumeni Syndrome
  • TP53 Gene Mutation (Variant)
  • Hereditary Cancer Syndrome
  • Clonal Hematopoiesis
  • Mosaicism

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Dana-Farber Cancer Institute on 2026-03-27.