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

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ClinicalTrials.gov Identifier: NCT00001163
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : February 15, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Tracking Information
First Submitted Date November 3, 1999
First Posted Date November 4, 1999
Last Update Posted Date February 15, 2019
Actual Study Start Date June 1, 1978
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: February 22, 2018)
Defining the natural history of familial cancers and susceptibility states over multiple generations, identifying cancer susceptibility genes, and assessing gene-environment and gene-gene interactions [ Time Frame: Ongoing ]
New cancer development or current health status
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00001163 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer
Official Title Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer
Brief Summary

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.

Detailed Description

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).

Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Primary clinical; volunteers come from all U.S.
Condition
  • Hereditary Neoplasms
  • Cancer
  • Genetic Predisposition to Cancer
  • Environment
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 23, 2005)
7500
Original Enrollment Same as current
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility 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.

Sex/Gender
Sexes Eligible for Study: All
Ages 1 Year to 110 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Sharon A Savage, M.D. (240) 276-7241 savagesh@mail.nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00001163
Other Study ID Numbers 780039
78-C-0039
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Study Sponsor National Cancer Institute (NCI)
Collaborators Not Provided
Investigators
Principal Investigator: Sharon A Savage, M.D. National Cancer Institute (NCI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date February 4, 2019