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Li-Fraumeni Syndrome Study

Our Goals

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We are actively recruiting new families to join our study. Families may be referred by their healthcare provider, or may refer themselves. Families taking part in our studies will help improve our understanding of LFS.

Aims of our study include understanding:

Cancer and Health Risks in LFS

  • Evaluating people with known or suspected TP53 variants, and their families, through either self- or clinician-referral;
  • Collecting detailed family history, personal medical history, and cancer risk factor information from study participants and their relatives;
  • Collecting blood samples for genetic testing and/or additional laboratory-based studies to better understand the causes of LFS;
  • Performing detailed studies on blood samples and tumor tissues (if cancer has developed), collected from LFS family members, to better understand the processes by which cancers develop;
  • Continuing molecular/laboratory research, using the biological samples we collect from study participants, to learn about disease mechanisms in LFS families, and to increase our clinical knowledge related to this complex disorder
  • Striving to improve the overall survival and quality of life for all persons with or at risk of LFS-related malignancy

Living with LFS

  • Offering genetic risk assessment, counseling, and testing, and disclosing genetic test results to persons who decide that this information will be of use for their health-related decision-making;
  • Evaluating the psychological, social, and behavioral issues involved in being a member of an LFS family, and developing management and counseling approaches to deal with the issues identified;
  • Developing evidence-based information on how to best care for people with or at risk of LFS-related cancer

Treatment of LFS

  • Evaluating whether a certain drug, metformin, can decrease cancer risks (or increase the time between cancer diagnoses) in individuals with variants in TP53
  • Evaluating whether certain tumor screening tests such as “liquid biopsy” can be used as an effective screening test in people with LFS

Participation

You may be considered for the NCI LFS Study if you are:

  • An individual with a TP53 variant or a clinical diagnosis of LFS
  • An individual with multiple primary cancers
  • A family member of an individual with a TP53 variant or a clinical diagnosis of LFS

What is involved in the study?

All participants will provide medical and family history, imaging and other medical records, and biospecimens (such as blood and saliva samples) that will be reviewed by the study team.

Selected participants may be invited to come to the National Institutes of Health (NIH) Clinical Center in Bethesda, Maryland, to obtain a complete health history interview, physical examination, and screening tests and/or to participate in some of our study aims such as the metformin trial. All travel-related costs such as transportation, meals, and lodging will be covered by the study team and there is no charge for any of the medical visits or tests.

About the NCI

The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the nation’s medical research agency that aims to make important discoveries that improve health and save lives. The NIH is made up of 27 different organizations called Institutes and Centers. Each has its own specific research agenda, usually focusing on particular diseases or body systems.

The National Cancer Institute (NCI) leads, conducts, and supports cancer research and training across the nation to advance scientific knowledge and help all people live longer, healthier lives.

Collaboration

To accomplish all of the above aims, we are also collaborating with our colleagues in the Li-Fraumeni Exploration (LiFE) Research Consortium to perform research projects that require larger numbers of families and participants than any one center can accommodate.