Clinical and Genetic Studies of Li-Fraumeni Syndrome

Inclusion Criteria

• •On referral, persons of all ages will be considered for inclusion in the study
• •because of either:
• •A family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL; 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
• •Personal and family medical history must be verified through questionnaires, interviews, review
• •of medical records and/or review of pathology slides.
• •There are 72 families who have previously enrolled in the pilot study under protocol 78-C-0039.
• •As the eligibility criteria remain the same, these families will be eligible for this protocol and will be invited to sign the new consent.
• •Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
• •For both the Field and Clinical Center Cohort, the PI will ensure that study investigators will
• •identify an appropriate LAR consistent with requirements of Policy 403 and will obtain consent
• •from the LAR as outlined in the consent process before initiating research interventions.
• •Pregnant women
• •In order to study the lifetime rates of cancer development in all individuals with Li-Fraumeni
• •syndrome, we will need to evaluate what effect pregnancy may have on rate of cancer
• •development both in affected individuals and unaffected family controls. Additionally, some
• •cancers are known to have an increased risk of development in the context of pregnancy and
• •lactation. Exclusion of pregnant women would preclude understanding of these cancer risks for
• •an important subset of the population.
• •Pregnant women are eligible for enrollment on the data collection component of this study.
• •Pregnant women will be included in this study as several endpoints may be assessed during
• •pregnancy; counseling, education, and other minimal risk procedures (i.e. blood draw) may be
• •done. We will postpone full clinical evaluations at the Clinical Center of pregnant women until
• •the subject has recovered post-partum.
• •All screening studies, for women who are pregnant, or breastfeeding will be deferred while the
• •woman is pregnant or breastfeeding. Pregnancy testing will be performed for females of childbearing age prior to imaging studies, and the test results must be negative prior to the scan..
• •The risk to the fetus and pregnant woman would be no greater than minimal for procedures that
• •are performed.