Ignite Creation Date:
2024-05-05 @ 10:17 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001163
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-07-01
First Post:
1999-11-03
Brief Title:
Clinical Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-09-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 genes mutations and risk notification will be offered to study participants for whom a specific mutation predictive of disease has been identified in hisher 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 cancertumor predisposition
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 genes mutations and risk notification will be offered to study participants for whom a specific mutation predictive of disease has been identified in hisher 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 cancertumor 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 factors predisposing to neoplasia either genetic andor 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 phenotypegenotype correlations estimation of risk of the disease associated with carrier status and identification of other risk factors that modify penetrance genetic environmental host factors
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 factors predisposing to neoplasia either genetic andor 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 phenotypegenotype 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 78-C-0039 | None | None | None |