Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer
Persons may be prone to develop cancer for a variety of reasons including: inherited
predisposition benign, premalignant, or malignant conditions; environmental exposures shared
by family members; previous tumors, immune deficiency, or preneoplastic conditions.
Investigations of individuals and families at high risk of cancer often lead to etiologic
clues that may be important in the sporadic counterparts of these cancers in the general
Identification of etiologically important genetic factors could inform chemoprevention
trials, screening programs, and treatment of the studied cancer types.
To evaluate and define the clinical spectrum and natural history of disease in syndromes
predisposing to cancer.
To evaluate potential precursor states of disease in families at risk.
To quantify risks of tumors in family members.
To map, clone, and determine function of tumor susceptibility genes.
To identify genetic determinants, environmental factors, and gene-environment interactions
conferring cancer risk in individuals and families.
To evaluate gene-gene and gene-environment interactions in tumor formation.
To educate and counsel study participants about their tumor risk including prevention
recommendations and early detection activities when known.
To develop educational materials for medical professionals and high-risk family members.
Persons of any age will be considered for inclusion in the study because of either,
A family or personal medical history of neoplasia of an unusual type, pattern, or number;
Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital
factors, environmental exposure, or unusual demographic features.
Types of familial tumors that we are currently actively accruing include Cancers: bladder,
bone, brain, chordoma, lung, nevoid basal cell carcinoma syndrome (NBCC).
This is a prospective study. Individuals and families are studied long-term, using a cohort
The study design and clinical evaluation vary by the specific type of familial neoplasm
The overall approach to eligible study participants includes defining affection status,
characterization of disease, localization of genetic loci, identification of genes,
evaluation of phenotype/genotype correlations, estimation of risk of the disease associated
with carrier status and identification of other risk factors that modify penetrance
(genetic, environmental, host factors).
Margaret A Tucker, M.D.
National Cancer Institute (NCI)
United States: Federal Government
|National Institutes of Health Clinical Center, 9000 Rockville Pike
|Bethesda, Maryland 20892