Clinical Trial: Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational
Official Title: Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
Brief Summary:
Individuals and families with known or suspected syndromes that include breast, ovarian or genetically-related cancers are enrolled in this family study, which is a syndrome-specific sub-set of the long-standing DCEG Human Genetics Program umbrella family studies protocol (78-C-0039). Cancer outcomes are documented through review of medical, vital, and pathology records. Selected individuals and family members are asked to complete questionnaires to assess etiologic risk factors and to undergo clinical evaluations specifically tailored to the relevant familial syndrome. 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. Study participants are asked to donate biologic specimens to be used in the laboratory search for cancer etiology and mechanisms of carcinogenesis. DNA and serial serum samples will be collected. Tumor tissue will be obtained whenever feasible.
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification will be offered consistent with ASCO guidelines 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. Clinical genetic testing and risk notification are entirely optional and do not affect subject eligibility for other aspects of the protocol. A separate consent procedure and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed b
Detailed Summary:
Individuals and families with known or suspected syndromes that include breast, ovarian or genetically-related cancers are enrolled in this family study, which is a syndrome-specific sub-set of the long-standing DCEG Human Genetics Program umbrella family studies protocol (78-C-0039). Cancer outcomes are documented through review of medical, vital, and pathology records. Selected individuals and family members are asked to complete questionnaires to assess etiologic risk factors and to undergo clinical evaluations specifically tailored to the relevant familial syndrome. 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. Study participants are asked to donate biologic specimens to be used in the laboratory search for cancer etiology and mechanisms of carcinogenesis. DNA and serial serum samples will be collected. Tumor tissue will be obtained whenever feasible.
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification will be offered consistent with ASCO guidelines 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. Clinical genetic testing and risk notification are entirely optional and do not affect subject eligibility for other aspects of the protocol. A separate consent procedure and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed b
Sponsor: National Cancer Institute (NCI)
Current Primary Outcome:
- Primary To ascertain individuals and families at high risk of breast, ovarian and other syndromically related cancers due to known or suspected genetic factor(s) which predispose to neoplasia in order to: Evaluate and define the clinical spectru... [ Time Frame: Ongoing ]
- Identify genetic determinants, and genetic and environmental modifiers of cancer risk in individuals and families predisposed to breast/ovarian cancer; and Evaluate gene-gene and gene-environment interactions in the pathogenesis of familial brea... [ Time Frame: Ongoing ]
Original Primary Outcome:
Current Secondary Outcome: Provide genetic counseling and to provide germline mutation testing with results disclosure when appropriate to family members who desire such information; and To develop syndrome-specific educational materials for medical professionals and high... [ Time Frame: Ongoing ]
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: June 22, 2002
Date Started: June 20, 2002
Date Completion:
Last Updated: April 21, 2017
Last Verified: March 27, 2017
