Studying People and Families Affected by Li-Fraumeni Syndrome (TP53 Mutation ) identifier:
NCT01443468 (

Surveys, Registries, Interviews
Registry for people with Li-Fraumeni syndrome (LFS) or from LFS families

Study Contact Information:

For additional information, please contact:

NCI Family Study Referrals (800) 518-8474 [email protected]

Payal P Khincha, M.D. (240) 276-7267 [email protected]

About the Study

The goal of this study is to identify whether Li-Fraumini syndrome (LFS), which has a high lifetime cancer risk, has any other causes besides the TP53 mutation. Researchers want to understand the function of the mutation(s) observed in those with LFS, and  factors that contribute to LFS cancers. This study involves people with Li-Fraumeni syndrome and people from families with Li-Fraumeni syndrome filling out questionnaires with their medical information.

What the Study Involves

Participants will be asked to:

Participants may also be asked to complete additional tests or questionnaires to measure stress, anxiety, level of exercise, and coping mechanisms. These tests may include brief exams that measure a person’s mental or behavioral habits, blood tests, cheek swabs, imaging scans, and other doctor-recommended examinations.

People are encouraged to participate in all aspects of the study but can choose to opt out of specific parts.

Participants do not have to travel to the study site to participate.  

Study Sites


National Cancer Institute-Shady Grove
Contact: Payal Khincha, M.D. 240-276-7267  [email protected]

National Institutes of Health Clinical Center
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office 888-624-1937


This Study is Open To:

Adults and children with any of the following may enroll:

This Study is Not Open To:

People cannot participate if:


FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.