Klinické a genetické studie Li-Fraumeni syndromu

Eligibility for the LFS study population: - A family or personal medical history of cancers 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

• 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.

EXCLUSION CRITERIA:

• Referred individuals and families whose reported diagnoses cannot be verified
• Medical or psychiatric disorder which, in the opinion of the Principal Investigator, would preclude the ability to participate in clinical research
• Women who are pregnant will not be eligible for the cancer screening protocol until they recover post-partum. Women participating in the cancer screening protocol will discontinue this component if they become pregnant while on study. Once they recover post-partum, they can continue the cancer screening protocol.