Study Plans, Eligibility and How to Participate
NCI is studying the clinical characteristics of individuals with LFS and their family members. We are also conducting genetic counseling and clinical TP53 mutation testing for these families. While it is possible that participants in our study may personally benefit from participating in this study, we cannot assure that this will be the case. Our overall goal is to develop the evidence that will lead to the creation of more effective cancer prevention and risk-reducing strategies for future LFS family members.
Individuals and their family members with known mutations in TP53 or fulfilling clinical criteria for Li-Fraumeni Syndrome or Li-Fraumeni-like Syndrome may enroll in the study. Individuals with four or more different types of cancer are eligible for the study, whether or not they have a family history of cancer. Persons interested in learning more about the LFS study and determining whether they might be eligible to participate are encouraged to contact Stephanie Steinbart, our Family Studies Referral Nurse, by phone (1-800-518-8474) or email (stephaniesteinbart@westat.com).
If you would like to discuss a potential referral with one of our team clinicians please contact Dr. Phuong Mai, by phone (1-301-496-9928) or email (maip@mail.nih.gov).
Present plans include:
- Recruiting people with known or suspected TP53 mutations, 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;
- Performing physical examinations, x-rays or routine laboratory tests for those who choose to travel to NIH (costs covered by NIH) to be seen by our study team;
- Collecting blood samples for genetic testing and/or additional laboratory-based studies to better understand the causes of LFS;
- Screening participants for early signs of certain cancers;
- Performing detailed studies on blood samples, and tumor tissues if cancer has developed, collected from LFS family members, to better understand the process by which cancers develop;
- Monitoring patients and families with LFS in an ongoing manner to determine the manifestations and natural history of LFS, and to provide continuing advice to individuals and families enrolled in the study;
- Evaluating the psychosocial and behavioral issues involved in being a member of an LFS family, and developing management and counseling approaches to deal with the issues identified;
- Providing information to study participants and their physicians regarding how to best care for people affected with or at risk of LFS-related cancer;
- Offering genetic risk assessment and counseling, and disclosing genetic test results to persons who decide that this information will be of use for their health-related decision-making;
- Continuing with molecular research to learn about disease mechanisms in LFS families, and to increase our clinical knowledge related to this complex disorder, and striving to improve the overall survival and quality of life for all persons with or at risk of LFS-related malignancy;
- Developing effective new cancer screening and prevention strategies;
- Collaborating with our colleagues in the North American Li-Fraumeni Syndrome Research Consortium to perform research projects that require larger numbers of families and participants than any one center can assemble; and
- Supporting the development of an LFS Family Support Group aimed at facilitating mutual assistance among persons with or at risk of LFS-related cancer.
