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

Launched by NATIONAL CANCER INSTITUTE (NCI) · Nov 3, 1999

Nctid: NCT00001163

Payload: {"FullStudy"=>{"Rank"=>474461, "Study"=>{"DerivedSection"=>{"MiscInfoModule"=>{"VersionHolder"=>"December 08, 2023"}, "ConditionBrowseModule"=>{"ConditionMeshList"=>{"ConditionMesh"=>[{"ConditionMeshId"=>"D000020022", "ConditionMeshTerm"=>"Genetic Predisposition to Disease"}]}, "ConditionAncestorList"=>{"ConditionAncestor"=>[{"ConditionAncestorId"=>"D000004198", "ConditionAncestorTerm"=>"Disease Susceptibility"}, {"ConditionAncestorId"=>"D000020969", "ConditionAncestorTerm"=>"Disease Attributes"}, {"ConditionAncestorId"=>"D000010335", "ConditionAncestorTerm"=>"Pathologic Processes"}]}, "ConditionBrowseLeafList"=>{"ConditionBrowseLeaf"=>[{"ConditionBrowseLeafId"=>"M7070", "ConditionBrowseLeafName"=>"Disease Susceptibility", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M21565", "ConditionBrowseLeafName"=>"Genetic Predisposition to Disease", "ConditionBrowseLeafAsFound"=>"Genetic Predisposition", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M22390", "ConditionBrowseLeafName"=>"Disease Attributes", "ConditionBrowseLeafRelevance"=>"low"}]}, "ConditionBrowseBranchList"=>{"ConditionBrowseBranch"=>[{"ConditionBrowseBranchName"=>"Symptoms and General Pathology", "ConditionBrowseBranchAbbrev"=>"BC23"}, {"ConditionBrowseBranchName"=>"All Conditions", "ConditionBrowseBranchAbbrev"=>"All"}]}}}, "ProtocolSection"=>{"DesignModule"=>{"StudyType"=>"Observational", "DesignInfo"=>{"DesignTimePerspectiveList"=>{"DesignTimePerspective"=>["Other"]}, "DesignObservationalModelList"=>{"DesignObservationalModel"=>["Family-Based"]}}, "EnrollmentInfo"=>{"EnrollmentType"=>"Actual", "EnrollmentCount"=>"5201"}}, "StatusModule"=>{"OverallStatus"=>"Active, not recruiting", "StartDateStruct"=>{"StartDate"=>"April 2, 1985", "StartDateType"=>"Actual"}, "ExpandedAccessInfo"=>{"HasExpandedAccess"=>"No"}, "StatusVerifiedDate"=>"October 23, 2023", "LastUpdateSubmitDate"=>"October 24, 2023", "StudyFirstSubmitDate"=>"November 3, 1999", "StudyFirstSubmitQCDate"=>"November 3, 1999", "LastUpdatePostDateStruct"=>{"LastUpdatePostDate"=>"October 25, 2023", "LastUpdatePostDateType"=>"Actual"}, "StudyFirstPostDateStruct"=>{"StudyFirstPostDate"=>"November 4, 1999", "StudyFirstPostDateType"=>"Estimate"}}, "OutcomesModule"=>{"PrimaryOutcomeList"=>{"PrimaryOutcome"=>[{"PrimaryOutcomeMeasure"=>"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", "PrimaryOutcomeTimeFrame"=>"Ongoing", "PrimaryOutcomeDescription"=>"New cancer development or current health status"}]}}, "OversightModule"=>{"IsFDARegulatedDrug"=>"No", "IsFDARegulatedDevice"=>"No"}, "ConditionsModule"=>{"KeywordList"=>{"Keyword"=>["Cancer", "Genes/Genetics", "Hereditary Neoplasms", "Environment", "Natural History"]}, "ConditionList"=>{"Condition"=>["Hereditary Neoplasms", "Cancer", "Genetic Predisposition to Cancer", "Environment"]}}, "ReferencesModule"=>{"ReferenceList"=>{"Reference"=>[{"ReferencePMID"=>"26721895", "ReferenceType"=>"background", "ReferenceCitation"=>"Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family. Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31."}, {"ReferencePMID"=>"25939664", "ReferenceType"=>"background", "ReferenceCitation"=>"Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Caporaso N, Greene MH, Goldin LR, Stewart DR. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5."}, {"ReferencePMID"=>"20458532", "ReferenceType"=>"derived", "ReferenceCitation"=>"Korde LA, Mueller CM, Loud JT, Struewing JP, Nichols K, Greene MH, Mai PL. No evidence of excess breast cancer risk among mutation-negative women from BRCA mutation-positive families. Breast Cancer Res Treat. 2011 Jan;125(1):169-73. doi: 10.1007/s10549-010-0923-y. Epub 2010 May 11."}, {"ReferencePMID"=>"19833996", "ReferenceType"=>"derived", "ReferenceCitation"=>"Koehly LM, Peters JA, Kenen R, Hoskins LM, Ersig AL, Kuhn NR, Loud JT, Greene MH. Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions. Am J Public Health. 2009 Dec;99(12):2203-9. doi: 10.2105/AJPH.2008.154096. Epub 2009 Oct 15."}]}, "SeeAlsoLinkList"=>{"SeeAlsoLink"=>[{"SeeAlsoLinkURL"=>"https://clinicalstudies.info.nih.gov/cgi/detail.cgi?B_1978-C-0039.html", "SeeAlsoLinkLabel"=>"NIH Clinical Center Detailed Web Page"}]}}, "DescriptionModule"=>{"BriefSummary"=>"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.\n\nIndividuals 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.\n\nGenetic 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.\n\nOnce 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.", "DetailedDescription"=>"Background:\n\nPersons 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.\n\nInvestigations 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.\n\nIdentification of etiologically important genetic factors could inform chemoprevention trials, screening programs, and treatment of the studied cancer types.\n\nObjectives:\n\nTo evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to cancer.\n\nTo evaluate potential precursor states of disease in families at risk.\n\nTo quantify risks of tumors in family members.\n\nTo map, clone, and determine function of tumor susceptibility genes.\n\nTo identify genetic determinants, environmental factors, and gene-environment interactions conferring cancer risk in individuals and families.\n\nTo evaluate gene-gene and gene-environment interactions in tumor formation.\n\nTo educate and counsel study participants about their tumor risk including prevention recommendations and early detection activities when known.\n\nTo develop educational materials for medical professionals and high-risk family members.\n\nEligibility:\n\nPersons of any age will be considered for inclusion in the study because of either,\n\nA family or personal medical history of neoplasia of an unusual type, pattern, or number; or,\n\nKnown or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors, environmental exposure, or unusual demographic features.\n\nTypes of familial tumors that we are currently actively accruing include Cancers: bladder, bone, brain, chordoma, lung, nevoid basal cell carcinoma syndrome (NBCC).\n\nDesign:\n\nThis is a prospective study. Individuals and families are studied long-term, using a cohort approach.\n\nThe study design and clinical evaluation vary by the specific type of familial neoplasm being studied.\n\nThe 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)."}, "EligibilityModule"=>{"Gender"=>"All", "StdAgeList"=>{"StdAge"=>["Child", "Adult", "Older Adult"]}, "SamplingMethod"=>"Non-Probability Sample", "StudyPopulation"=>"Primary clinical; volunteers come from all U.S.", "HealthyVolunteers"=>"No", "EligibilityCriteria"=>"INCLUSION CRITERIA:\n\nOn referral, persons of any age will be considered for the inclusion in the study because of either:\n\nA family or personal history of neoplasia of an unusual type, pattern, or number; OR,\n\nknown 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.).\n\nPersonal 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:\n\nFamilial Cancers: bladder, brain, chordoma, lung, nevoid basal cell carcinoma syndrome (NBCC)\n\nFamilial Benign Neoplasms: meningiomas, neurofibromatosis 2 (bilateral acoustic neurofibromatosis)\n\nThe 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.\n\nEXCLUSION CRITERIA:\n\nReferred individuals and families for whom reported diagnoses cannot be verified.\n\nInability to provide informed consent.\n\nEligible for familial melanoma, lymphoproliferative, breast-ovarian cancer, or testicular cancer protocols."}, "IdentificationModule"=>{"NCTId"=>"NCT00001163", "BriefTitle"=>"Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer", "Organization"=>{"OrgClass"=>"NIH", "OrgFullName"=>"National Institutes of Health Clinical Center (CC)"}, "OfficialTitle"=>"Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer", "NCTIdAliasList"=>{"NCTIdAlias"=>["NCT00004007"]}, "OrgStudyIdInfo"=>{"OrgStudyId"=>"780039"}, "SecondaryIdInfoList"=>{"SecondaryIdInfo"=>[{"SecondaryId"=>"78-C-0039"}]}}, "ArmsInterventionsModule"=>{"ArmGroupList"=>{"ArmGroup"=>[{"ArmGroupLabel"=>"1", "ArmGroupDescription"=>"primary clinical; volunteers come from all U.S."}]}}, "ContactsLocationsModule"=>{"LocationList"=>{"Location"=>[{"LocationZip"=>"20892", "LocationCity"=>"Bethesda", "LocationState"=>"Maryland", "LocationCountry"=>"United States", "LocationFacility"=>"National Institutes of Health Clinical Center"}]}, "OverallOfficialList"=>{"OverallOfficial"=>[{"OverallOfficialName"=>"Sharon A Savage, M.D.", "OverallOfficialRole"=>"Principal Investigator", "OverallOfficialAffiliation"=>"National Cancer Institute (NCI)"}]}}, "IPDSharingStatementModule"=>{"IPDSharing"=>"Yes", "IPDSharingTimeFrame"=>"The data will be shared at the time of publication or shortly after.", "IPDSharingDescription"=>".Section 6.2 titled Data Sharing Plan in the protocol describes the plan for data sharing plans including human data sharing and genomic data sharing plan.@@@@@@Genotype and sequence data along with clinical phenotypes will be deposited in a genomic database in accordance with current NIH Genomic Data Sharing (GDS) Policy and the NIH Human Data Sharing Policy.@@@@@@The following human data generated in this research will be shared for future research as follows:@@@De-identified data in an NIH-funded or approved public repository.@@@@@@De-identified data in BTRIS (automatic for activities in the Clinical Center)@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements.@@@@@@The data will be shared at the time of publication or shortly after.@@@@@@Unlinked genomic data will be deposited in public genomic databases such as dbGaP in compliance with the NIH Genomic Data Sharing Policy.", "IPDSharingInfoTypeList"=>{"IPDSharingInfoType"=>["Statistical Analysis Plan (SAP)", "Informed Consent Form (ICF)"]}, "IPDSharingAccessCriteria"=>"Section 6.2 titled Data Sharing Plan in the protocol describes the plan for data sharing plans including human data sharing and genomic data sharing plan."}, "SponsorCollaboratorsModule"=>{"LeadSponsor"=>{"LeadSponsorName"=>"National Cancer Institute (NCI)", "LeadSponsorClass"=>"NIH"}, "ResponsibleParty"=>{"ResponsiblePartyType"=>"Sponsor"}}}}}}