{"doc_desc":{"title":"Cohorte de femmes apparent\u00e9es \u00e0 un enfant atteint d\u2019ataxie-t\u00e9langiectasie \/ \u00e9tude du cancer du sein","idno":"FRESH-PEF60031-fr","producers":[{"name":"Nadine ANDRIEU","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60031-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60031"},{"agency":"FReSH","code":"FRESH-PEF60031"}]},"title":"Cohorte de femmes apparent\u00e9es \u00e0 un enfant atteint d\u2019ataxie-t\u00e9langiectasie \/ \u00e9tude du cancer du sein","alternate_title":"CoF-AT"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Nadine;ANDRIEU","PILabo":"INSERM \/ U900","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0001-9558-9302","role":"pi id"},{"title":"IdRef","uri":"176092897","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"nadine.andrieu@curie.net","isContact":"Oui"}],"oth_id":[{"name":"","type":""},{"name":"","type":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (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":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Nadine;ANDRIEU","email":"nadine.andrieu@curie.net","type":"contact","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":"\u00e9v\u00e9nements de sant\u00e9"},{"keyword":"cancer"},{"keyword":"environnement"}],"topics":[{"topic":"Oncologie","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":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Les objectifs de la cohorte des femmes apparent\u00e9es \u00e0 un enfant atteint d\u2019ataxie-t\u00e9langiectasie (AT) sont de plusieurs ordres : 1. Proposer un suivi aux femmes apparent\u00e9es avec une action de d\u00e9pistage pr\u00e9coce du cancer du sein (CS). 2. Estimer le risque de cancer associ\u00e9 aux g\u00e8nes de l\u2019AT et en particulier le risque de CS. \u00c9tudier le r\u00f4le de potentiels facteurs modificateurs de ce risque comme les radiations, les facteurs hormonaux, etc. 3. \u00c9tudier l\u2019histoire naturelle du CS chez les femmes h\u00e9t\u00e9rozygotes pour les g\u00e8nes de l\u2019AT","abstract":"","coll_dates":[{"start":"2003-01-01","end":"2024-01-01"}],"nation":[{"name":"Belgique","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":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"F\u00e9minin\",\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\": \"Adulte (19 \u00e0 24 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adulte (25 \u00e0 44 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Adulte (45 \u00e0 64 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Population g\u00e9n\u00e9rale\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Femmes indemnes de cancer du sein, majeures et apparent\u00e9es \u00e0 un enfant atteint d\u2019ataxie-telangiectasie : les m\u00e8res, les s\u0153urs, les tantes, les grand-m\u00e8res et les cousines maternelles et paternelles. Recrut\u00e9es \u00e0 partir des familles ayant particip\u00e9 \u00e0 une premi\u00e8re \u00e9tude r\u00e9trospective r\u00e9alis\u00e9e pr\u00e9c\u00e9demment par l'\u00e9quipe, et \u00e0 partir de nouvelles familles contact\u00e9es par l\u2019interm\u00e9diaire des m\u00e9decins en charge des patients (p\u00e9diatres, neuro-p\u00e9diatres\u2026), des g\u00e9n\u00e9ticiens, de l\u2019 association pour la recherche sur l\u2019AT (Aprat), d'Orphanet (serveur d\u2019informations sur les maladies rares et les m\u00e9dicaments orphelins) et du Ceredih (centre de r\u00e9f\u00e9rence des d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires).\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l&#x27;\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":"['Pr\u00e9sence d\\'une requ\u00eate de coh\u00e9rence apr\u00e8s la saisie des donn\u00e9es informatiques. Gestion des donn\u00e9es manquantes par retour au dossier source ou retour vers le patient ou retour vers un tiers.R\u00e9alisation d\\'audit qualit\u00e9 interne \u00e0 l\\'occasion des bilans d\\'avancement et des analyses ponctuelles.']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Ev\u00e9nements de sant\u00e9\/morbidit\u00e9\r\nEv\u00e9nements de sant\u00e9\/mortalit\u00e9"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":"['Via des structures (services ou \u00e9tablissements de sant\u00e9, \u00e9coles, entreprises\u2026)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"SelfAdministeredQuestionnaire\",\"vocab\":\"CESSDA\"},\"value\":\"Questionnaire auto-administr\u00e9\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"< 500 individus","response_rate":"391 (2013)"},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Cohorte"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Acc\u00e8s r\u00e9serv\u00e9\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"Utilisation possible des donn\u00e9es par des \u00e9quipes acad\u00e9miques Utilisation non possible des donn\u00e9es par des industriels","conditions":"","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"08-03-2013","lastUpdatedAuto":null,"lastUpdatedManual":"04-08-2014","isContributorPI":"Non","contributorName":"Nadine ANDRIEU","contributorAffiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"List of publications in HAL","link":"http:\/\/www.hal.inserm.fr\/COFAT\/"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Industrie","Priv\u00e9 \u00e0 but non lucratif","Priv\u00e9 \u00e0 but non lucratif","Priv\u00e9 \u00e0 but non lucratif","Public (France)","Priv\u00e9 \u00e0 but non lucratif","Public (France)","Public (France)"],"otherFundingAgentType":["","","","","","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":"Oui"},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":"Oui","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Auto-questionnaire : saisie \u00e0 partir d\u2019un questionnaire papier Entretiens : saisie \u00e0 partir d\u2019un questionnaire papier","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"Cohorte multicentrique internationale (31 centres) : Belgique, Luxembourg, France"},"dataTypes":{"clinicalDataDetails":"Examen clinique au cours du suivi tous les deux ans \u00e0 partir de 25 ans.Informations recueillies lors de l'examen clinique : r\u00e9sultat de l'examen clinique mammaire effectu\u00e9 par le m\u00e9decin.","biologicalDataDetails":"Type de pr\u00e9l\u00e8vements r\u00e9alis\u00e9s : sang, tissus tumoraux","isDataInBiobank":"Oui","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}