Protocol Details

Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	11-C-0255
Sponsoring Institute	National Cancer Institute (NCI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 3 Max Age: 100
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Li-Fraumeni Syndrome; Tp53; Cancer; Hereditary; Genetic Testing
Recruitment Keyword(s)	None; Li-Fraumeni Syndrome; LFS
Condition(s)	Li-Fraumeni Syndrome; Neoplasms; Tp53 Mutations
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Cancer Institute

Background:

- Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain. It may also increase the risk for certain types of leukemia and other cancers. The only known cause of LFS is a change (called a mutation ) in a gene known as TP53. However, not all people with LFS have a TP53 mutation. Researchers want to study other possible genetic causes of LFS, and factors that may increase or decrease cancer risk in people with the syndrome.

Objectives:

- To learn more about the types of cancers that occur in individuals with LFS.

- To study the role of the TP53 gene in the development of cancer.

- To look for other possible genes that cause LFS

- To study the effect of LFS diagnosis on families.

- To determine if environmental factors or other genes can change a person's cancer risk associated with LFS.

Eligibility:

- Individuals with a family or personal medical history of cancers consistent with LFS.

- Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS, but the history is suggestive for LFS (meets the diagnosis for the so-called Li-Fraumeni like syndrome)

- Individuals with certain rare cancers

- Individuals with a family or personal history of a TP53 gene mutation, with or without related cancer(s).

Design:

- Participants will fill out a medical history questionnaire and a family history questionnaire.

- Blood samples will be collected for DNA and for storage. Cheek cell samples may be collected if blood cannot be obtained for DNA. Participants can choose to have or not have cancer screening with blood tests, imaging studies, and other exams.

- Participants will complete questionnaires about their worries about cancer, stress levels, and coping strategies. Diet and physical activity questionnaires will also be given. Other psychological tests may be given as needed.

- Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.

--Back to Top--

Eligibility

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.

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

--Back to Top--

Citations:

Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P. Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. Curr Opin Oncol. 2010 Jan;22(1):64-9.

Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC. Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet. 1992 Aug;51(2):344-56.

Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 1969 Oct;71(4):747-52.

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information:
Sharon A. Savage, M.D. National Cancer Institute (NCI) National Institutes of Health BG EPS RM 7018 MSC 7231 6120 EXECUTIVE BLVD ROCKVILLE MD 20892-7231 (301) 496-5785 savagesh@mail.nih.gov	Renee C. Bremer National Cancer Institute (NCI) National Institutes of Health Executive Plaza South Room 7015 6120 Executive Boulevard Rockville, Maryland 20852 (301) 451-9731 bremerrc@mail.nih.gov	NCI Referral Office National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office 1-888-NCI-1937

Clinical Trials Number:

NCT01443468

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

• Details on how to participate in a study
• Details on how to refer a patient to a study

NIH Clinical Studies Information Request

---

Contact the Office of Communications for:

• General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml

---

Contact the Department Clinical Research Informatics, (DCRI) for:

• Technical questions about Adobe Acrobat and the PDF format
• Technical questions about this web server

webmaster@cc.nih.gov