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


N/A
1 Year
N/A
Open (Enrolling)
Both
Hereditary Neoplastic Syndrome, Neoplasm

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Trial Information

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


Background:

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
population.

Identification of etiologically important genetic factors could inform chemoprevention
trials, screening programs, and treatment of the studied cancer types.

Objectives:

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.

Eligibility:

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;
or,

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).

Design:

This is a prospective study. Individuals and families are studied long-term, using a cohort
approach.

The study design and clinical evaluation vary by the specific type of familial neoplasm
being studied.

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).

Inclusion Criteria


- 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
(NBCC)

Familial Benign Neoplasms: meningiomas, neurofibromatosis 2 (bilateral acoustic
neurofibromatosis)

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.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

Margaret A Tucker, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)

Authority:

United States: Federal Government

Study ID:

780039

NCT ID:

NCT00001163

Start Date:

March 1978

Completion Date:

Related Keywords:

  • Hereditary Neoplastic Syndrome
  • Neoplasm
  • Familial Malignancies
  • Genetic Predisposition
  • Cancer-Prone Individuals
  • Cancer
  • Genes/Genetics
  • Hereditary Neoplasms
  • Environment
  • Neoplasms
  • Neoplastic Syndromes, Hereditary

Name

Location

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892