Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer

Conditions Phase Intervention Type
    Hereditary Neoplasms Cancer Genes Environment


Ages Eligible for Study
12 months to 110 years
Genders Eligible for Study


Cancer, Genes/Genetics, Hereditary Neoplasms, and Environment


National Cancer Institute (NCI)

Inclusion Criteria

On referral, persons of any age will be considered for the inclusion in the study because
of either:

A family or personal history of neoplasia of an unusual type, pattern, or number; OR,

known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital
factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits
associated with tumors), environmental exposure (medications, occupation, radiation, diet,
infectious agents, etc.), or unusual demographic features (very young age of onset,
multiple tumors, etc.).

Personal and family medical history must be verified through questionnaires, interviews,
and review of pathology slides and medical records. For familial neoplasms, two or more
living affected cases among family members are required. The types of familial tumors that
we are currently actively accruing include:

Familial Cancers: bladder, brain, chordoma, lung, nevoid basal cell carcinoma syndrome

Familial Benign Neoplasms: meningiomas, neurofibromatosis 2 (bilateral acoustic

The types of familial tumors under active accrual and study are predominantly
investigator-and hypothesis-driven. This approach permits GEB investigators to remain alert
to the opportunities afforded by clusters of rare tumors in families and individuals, and
to be more responsive to the dynamic research priorities in cancer genetics.

Exclusion Criteria

Referred individuals and families for whom reported diagnoses cannot be verified.

Inability to provide informed consent.

Eligible for familial melanoma, lymphoproliferative, breast-ovarian cancer, or testicular
cancer protocols.

Detailed Description

This is a clinical, epidemiologic, genetic, and laboratory study of individuals and families at high risk of cancer and selected tumors to investigate the genetic susceptibility and environmental exposures which may alter cancer risk. Families with multiple members who have an unusual pattern or number of cancers or tumors are evaluated clinically. This evaluation is specific for the type of cancer or tumor predominant in the family in order to determine the affection status of each individual for genetic epidemiologic studies. Genetic and environmental risk factor information specific for the tumor type is obtained. Individuals with, or at high risk of, cancer because of their personal, familial, or environmental histories are identified by healthcare worker referral or by personal inquiry. Relevant etiologic risk factor information is documented through review of pathology specimens and medical, vital, and genealogical records. Selected individuals and family members are asked to complete questionnaires and to undergo clinical evaluations specific for the tumor of interest. They are also asked to donate biologic specimens to be used in the search for cancer etiology and mechanisms of carcinogenesis. No therapy beyond counseling and education for cancer prevention, risk reduction, and early detection will be given. Genetic testing for tumor susceptibility gene(s) mutations and risk notification will be offered to study participants for whom a specific mutation predictive of disease has been identified in his/her family. This testing will only be offered when reasonable individual cancer risk estimates can be delivered, and only to those participants who choose to know their individual genetic status after appropriate education and counseling. The testing will be conducted exclusively in Clinical Laboratory Improvement Amendments (CLIA)-licensed laboratories. Genetic testing and risk notification are entirely optional and do not affect participation in other aspects of the protocol. A separate consent procedure and consent form will be used for genetic testing and risk notification related to these specific genes. Once enrolled, study participants are monitored prospectively for the development of outcomes of interest, typically by means of periodic mail or telephone contact. In selected instances, subjects may return to the Clinical Center periodically for study-specific follow-up examinations. Although we do not offer specific anti-cancer therapy as part of this protocol, we provide assistance to insure that study participants who require treatment for tumor-related problems that develop during the course of the study are referred to appropriate healthcare providers. We remain available to study participants and their healthcare providers for advice and consultation related to the management of familial cancer/tumor predisposition.

Contacts and Locations

Please refer to this study by its identifier: NCT00001163

Overall Contact Backup

Margaret A Tucker, M.D.
(240) 276-7396


  • National Institutes of Health Clinical Center, 9000 Rockville Pike
    Bethesda, Maryland United States

    Status: Recruiting

    Contact info For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
    (888) NCI-1937