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



Status:Recruiting
Conditions:Cancer, Other Indications
Therapuetic Areas:Oncology, Other
Healthy:No
Age Range:1 - 110
Updated:2/17/2019
Start Date:June 1, 1978
Contact:Sharon A Savage, M.D.
Email:savagesh@mail.nih.gov
Phone:(240) 276-7241

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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.

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:

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.
We found this trial at
1
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9000 Rockville Pike
Bethesda, Maryland 20892
Phone: (888) NCI-1937
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Bethesda, MD
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