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ID01443468

Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome

Led by National Cancer Institute (NCI) · Updated on 2026-06-08

5000

Participants Needed

2

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are investigating Li-Fraumeni syndrome (LFS), a genetic condition that increases cancer risk, including bone, breast, brain cancers, certain leukemias, and others. The study aims to understand the role of the TP53 gene and other possible genetic causes in LFS, as well as how environmental and genetic factors may influence cancer risk. The study also explores the impact of LFS diagnosis on families and seeks to develop effective cancer screening and risk management strategies. This is a long-term observational study where participants provide medical and family history through questionnaires and interviews. Blood or cheek cell samples are collected for DNA analysis and storage. Participants may choose to undergo cancer screening with blood tests, imaging, and other exams. Psychological, diet, and physical activity questionnaires are also completed, with additional tests as needed. The study includes groups such as TP53 mutation carriers, family members with or without mutations, and individuals meeting clinical criteria without genetic testing. Participants are monitored for several years with regular follow-up visits to track health changes and cancer occurrence. Data collected includes clinical evaluations, laboratory tests, medical record reviews, and cancer surveillance. Researchers assess cancer prevalence, genetic and environmental risk factors, tumor characteristics, psychological effects, and the impact of radiation exposure. The study aims to build a detailed understanding of LFS to support future research and care options.

CONDITIONS

Brief Title

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Who Can Participate

All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Persons of all ages with a family or personal medical history of cancers consistent with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome
  • Individuals with a personal history of a germline TP53 mutation
  • First- or second-degree relatives of TP53 mutation carriers, regardless of their mutation status
  • Individuals with a personal history of three or more Li-Fraumeni-related primary cancers
  • Individuals with a personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age
  • Ability to understand and willingness to sign informed consent
  • Pregnant women are eligible for data collection but have screening deferred until after pregnancy
Not Eligible

You will not qualify if you...

  • Individuals or families whose reported cancer diagnoses cannot be verified
  • Medical or psychiatric conditions that prevent participation in clinical research as judged by the Principal Investigator
  • Pregnant women are excluded from cancer screening until they have recovered postpartum; they must discontinue screening if pregnancy occurs during the study and can resume afterwards

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Surveillance

Duration - Long-term

Participants are observed over time through questionnaires, clinical and research evaluations, laboratory tests, medical record reviews, and cancer surveillance to understand the natural history and clinical spectrum of Li-Fraumeni Syndrome and Li-Fraumeni-Like Syndrome.

Regular visits depending on individual risk and study protocol

Trial Site Locations

Total: 2 locations

1

National Cancer Institute - Shady Grove

Bethesda, Maryland, United States, 20892

Actively Recruiting

2

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

N

NCI Family Study Referrals

P

Payal P Khincha, M.D.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

5

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Published Research Related To This Trial

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

Anita Villani, Uri Tabori, Joshua Schiffman...

https://pubmed.ncbi.nlm.nih.gov/21601526

Diet and physical activity behaviors: how are they related to illness perceptions, coping, and health-related quality of life in young people with hereditary cancer syndromes?

Camella J Rising, Chloe O Huelsnitz, Rowan Forbes Shepherd...

https://pubmed.ncbi.nlm.nih.gov/38642305

Family communication challenges of adolescents and young adults with Li-Fraumeni syndrome: Implications for psychosocial care.

Camella J Rising, Catherine Wilsnack, Patrick Boyd...

https://pubmed.ncbi.nlm.nih.gov/35918231

Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.

Kelvin César de Andrade, Payal P Khincha, Jessica N Hatton...

https://pubmed.ncbi.nlm.nih.gov/34780712