Our Goals

We are actively recruiting new families to join our study. Families taking part in our studies will help improve our understanding of the clinical characteristics of LFS.

A major goal for the National Cancer Institute (NCI) is to better understand the causes of cancer, including identifying the genes that are important in cancer development. Detailed evaluations of members of cancer-prone families can provide the medical information needed to understand the causes of particular familial cancer syndromes. We hope to create evidence-based health care recommendations for the members of such families. NCI has been engaged in studies of this kind for more than 40 years, and it is an approach that has proven very successful.

NCI has evaluated families with Li-Fraumeni Syndrome (LFS) and LFS-Like-Syndrome (LFL) since the syndrome was first described. The Clinical Genetics Branch (CGB) of NCI has recently expanded this research effort. We are a member of the international Li-Fraumeni Exploration (LiFE) Research Consortium. The members of this consortium work together to tackle major clinical issues affecting LFS families.

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 the clinical characteristics of LFS. The cancer screening component of our study has reached its accrual goal as we are currently following more than 120 patients at the NIH Clinical Center. However, data collection from patients and their healthcare providers is ongoing.

Aims of our study include understanding:

Genetic Epidemiology of LFS (causes)

  • Evaluating 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;
  • 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

Medical Management

  • Performing physical examinations, imaging studies, and laboratory tests for those with a TP53 mutation who choose to be part of the cancer screening protocol and to travel to NIH (costs covered by NIH) to be seen by our study team;
  • Steady monitoring of patients and families with LFS to determine the manifestations and natural history of LFS and to provide ongoing advice to individuals and families enrolled in the study;
  • Developing effective prevention strategies

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 affected by or at risk of LFS-related cancer

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.