{"doc_desc":{"title":"French Cohort Study on Ataxia Telangiectasia","idno":"FRESH-PEF60031-en","producers":[{"name":"Nadine ANDRIEU","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60031-en","IDno":{"metadata_no":[{"agency":"PEF","code":"60031"},{"agency":"FReSH","code":"FRESH-PEF60031"}]},"title":"French Cohort Study on Ataxia Telangiectasia","alternate_title":"CoF-AT"},"study_authorization":{"agency":[]},"authoring_entity":[{"name":"Nadine;ANDRIEU","firstname":"Nadine","lastname":"ANDRIEU","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"}],"email":"nadine.andrieu@curie.net","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"INSERM \/ U900","isContact":true}],"oth_id":[{"name":"","type":""},{"name":"","type":""}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"},{"title":"SIREN","uri":"180036048","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"ELECTRICITE DE FRANCE (EDF)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/03wb8xz10"},{"title":"SIREN","uri":"552081317"}]},{"name":"FONDATION DE FRANCE","extlink":[{"title":"SIREN","uri":"784314908"}]},{"name":"FONDATION ENTREPRISE MGEN SANTE PUBLIQUE (FSP MGEN)","extlink":[{"title":"SIREN","uri":"444268627"}]},{"name":"INSTITUT CURIE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/04t0gwh46"},{"title":"SIREN","uri":"784257164"}]},{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261"},{"title":"SIREN","uri":"180036048"}]},{"name":"LIGUE NATIONALE CONTRE LE CANCER (LNCC)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00rkrv905"},{"title":"SIREN","uri":"775664717"}]},{"name":"MINISTERE DE L\u2019ENSEIGNEMENT SUPERIEUR, DE LA RECHERCHE ET DE L\u2019ESPACE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/03sjk9a61"},{"title":"SIREN","uri":"110044013"}]},{"name":""}]},"distribution_statement":{"contact":[{"name":"Nadine;ANDRIEU","lastname":"ANDRIEU","firstname":"Nadine","type":"contact","email":"nadine.andrieu@curie.net","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id","title":"ROR"},{"uri":"180036048","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"Health episodes"},{"keyword":"cancer"},{"keyword":"environment"}],"topics":[{"topic":"Oncology","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/5784b7f1-c7ce-49d9-9f38-aebcda0ff41d"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D008495"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"The objectives of the cohort involving women related to a child suffering from ataxia telangiectasia (AT) are multi-layered: 1. To monitor female relatives for early detection of breast cancer (BC). 2. To estimate the risk of cancer associated with AT genes with a focus on BC risk. To investigate the role of potential modifying factors for this risk such as radiation, hormonal factors etc. 3. To investigate the natural history of BC in AT heterozygous women","abstract":"","coll_dates":[{"start":"2003-01-01","end":"2024-01-01"}],"nation":[{"name":"Belgium","abbreviation":"be","extLink":{"vocab":"ISO","vocabURI":"be"}},{"name":"Luxembourg","abbreviation":"lu","extLink":{"vocab":"ISO","vocabURI":"lu"}},{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Female\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D005260\"\n            }\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"value\": \"Young Adult (19 to 24 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adult (25 to 44 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Middle Aged (45 to 64 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"General population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Breast cancer free women, of legal age and related to a child with ataxia telangiectasia-: mothers, sisters, aunts, grandmothers, maternal and paternal cousins. Recruited from families who participated in the first previous retrospective study by the team and new families contacted through treating physicians (paediatricians, neuro-paediatricians ...), geneticists, the AT research association (APRAT), Orphanet (information server on rare diseases and orphan drugs) and CEREDIH (reference centre for hereditary immunodeficiencies).\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Participant-reported health data','Biological data','Paraclinical data (non-biological) : Imaging']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"SelfAdministeredQuestionnaire\",\"vocab\":\"CESSDA\"},\"value\":\"Self-administered questionnaire\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"< 500 individuals","response_rate":"391 (2013)"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Cohort study"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"Data may be used by academic teams Data may not be used by industrial teams","conditions":"","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"en","originLang":"en","autoTranslation":false,"status":"imported","creationDate":"08-03-2013","lastUpdatedAuto":null,"lastUpdatedManual":"04-08-2014","isContributorPI":false,"contributorName":"","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"List of publications in HAL","link":"http:\/\/www.hal.inserm.fr\/COFAT\/"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Industry","Private non-profit","Private non-profit","Private non-profit","Public (France)","Private non-profit","Public (France)","Public (France)"],"otherFundingAgentType":["","","","","","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Self-administered questionnaire: from paper questionnaire Interview: from paper questionnaire","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"International multicentric cohort (31 centres): Belgium, Luxembourg, France"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"Type of samples taken: blood, tumour tissues","isDataInBiobank":true,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}