Participation

NCI is studying the clinical characteristics of individuals with LFS and their family members in NCI protocol 11-C-0255. 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 their role 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 the study eligibility criteria may enroll in the study.

Eligibility Criteria for Participation

  • A family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL (Birch definition); OR
  • A personal history of a germline TP53 mutation; OR
  • A first- or second- degree relative of a TP53 mutation carrier, regardless of mutation status; OR
  • A personal history of three or more LFS-related primary cancers; OR
  • A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history.

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 or your provider has questions regarding the nature and purpose of this study, and wish to speak directly with one of our team clinicians, please contact Dr. Sharon A. Savage.

What to Expect as an LFS Study Participant

Those who choose to participate in the NCI Li-Fraumeni Syndrome study will be given questionnaires related to their personal medical history, their family history, cancer-related risk factors, and the impact of being in a family in which LFS has been identified. This study (NCI Protocol 11-C-0255) has been reviewed and approved by the NCI’s Institutional Review Board (IRB). Some participants may have the opportunity to travel to the NIH for more detailed clinical/genetic/laboratory studies designed to identify other factors, which may contribute to the development of cancer in LFS. It is our hope that by learning more about the types of cancer and genetic changes in LFS we can develop prevention and surveillance strategies, which will benefit future families with LFS or those who are at risk of LFS-related cancers.

NOTE: Cancer treatment is not being offered as part of this project. If the need arises, we will discuss treatment options and provide assistance in establishing care with appropriate physicians in or near participants’ home communities. If the NIH has an open treatment research protocol related to an illness that occurs in one of our study participants, and if the study participants appear to be eligible for that study, we will assist in making those referrals to the responsible NIH investigator as well.