{"doc_desc":{"title":"Cohorte de familles fran\u00e7aises avec une mutation d\u2019un g\u00e8ne MMR identifi\u00e9e : estimation des risques de cancers","idno":"FRESH-PEF73086-fr","producers":[{"name":"Christine LASSET","affiliation":"CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73086-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"73086"},{"agency":"FReSH","code":"FRESH-PEF73086"}]},"title":"Cohorte de familles fran\u00e7aises avec une mutation d\u2019un g\u00e8ne MMR identifi\u00e9e : estimation des risques de cancers","alternate_title":"ERISCAM"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Val\u00e9rie;BONADONA","PILabo":"CNRS","affiliationName":"CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"09754423X","role":"pi id"},{"title":"SIREN","uri":"180089013","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"valerie.bonadona@lyon.unicancer.fr","isContact":"Oui"},{"type":"investigator","name":"Christine;LASSET","PILabo":"CNRS \/ Prevention and genetics epidemiology","affiliationName":"CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"08360443X","role":"pi id"},{"title":"SIREN","uri":"180089013","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"christine.lasset@lyon.unicancer.fr","isContact":"Oui"},{"type":"investigator","name":"Catherine;BONAITI-PELLIE","PILabo":"Inserm \/ Genetics epidemiology and human population structures","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"074144138","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"catherine.bonaiti@inserm.fr","isContact":"Oui"},{"type":"investigator","name":"Sylviane;OLSCHWANG","PILabo":"Inserm \/ Medical Genetics and Functional Genomics","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"087574071","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"sylviane.olschwang@inserm.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"CENTRE LEON BERARD","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/01cmnjq37","role":"sponsor id"},{"title":"SIREN","uri":"779924133","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"FONDATION DE FRANCE","extlink":[{"title":"SIREN","uri":"784314908"}]}]},"distribution_statement":{"contact":[{"name":"Val\u00e9rie;BONADONA","email":"valerie.bonadona@lyon.unicancer.fr","type":"contact","affiliationName":"CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02feahw73","role":"organisation id","title":"ROR"},{"uri":"180089013","role":"organisation id","title":"SIREN"}]},{"name":"Christine;LASSET","email":"christine.lasset@lyon.unicancer.fr","type":"contact","affiliationName":"CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02feahw73","role":"organisation id","title":"ROR"},{"uri":"180089013","role":"organisation id","title":"SIREN"}]},{"name":"Catherine;BONAITI-PELLIE","email":"catherine.bonaiti@inserm.fr","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"}]},{"name":"Sylviane;OLSCHWANG","email":"sylviane.olschwang@inserm.fr","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":"Syndrome de Lynch"},{"keyword":"gyn\u00e9cologie"},{"keyword":"g\u00e8nes MMR"},{"keyword":"MLH1"},{"keyword":"MSH2"},{"keyword":"MSH6"},{"keyword":"risque cumul\u00e9"},{"keyword":"cancer"},{"keyword":"colorectal"},{"keyword":"g\u00e9n\u00e9tique"},{"keyword":"mutation"}],"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":"Gyn\u00e9cologie et obst\u00e9trique","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/7de64596-5b0d-4977-8f98-b982ff2ec17d"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/284ca20c-beb4-4abe-99fa-ef4513358bad"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D006176"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009774"}]},{"topic":"Gastroent\u00e9rologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/a3898340-a42d-4f5e-a822-1de204a9a867"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D005762"}]},{"topic":"H\u00e9patologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/27c456a1-051a-42f6-b52a-3beff0487da7"}]},{"topic":"Tumeurs malignes du c\u00f4lon","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1265576634","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Objectif est d\u2019estimer de fa\u00e7on fiable et pr\u00e9cise les risques des diff\u00e9rentes tumeurs chez les sujets porteurs d\u2019une mutation d\u2019un g\u00e8ne MMR","abstract":"","coll_dates":[{"start":"2007-01-01","end":"2009-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Masculin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\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            \"value\": \"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Grand \u00e2ge (80 ans et plus)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Familles fran\u00e7aises avec une mutation d\u2019un g\u00e8ne MMR identifi\u00e9e , recrut\u00e9es par les 40 centres de consultation d\u2019oncog\u00e9n\u00e9tique participants \u00e0 l\u2019\u00e9tude, tous membres du Groupe G\u00e9n\u00e9tique et Cancer.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l&#x27;\u00e9tude']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":"['Base m\u00e9dico-administrative (de patients, Assurance Maladie\/Mutuelle) Registre de maladies, de d\u00e9c\u00e8s']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Transcription et saisie d\u2019informations dans un enregistrement structur\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":"[1000-10000[ individus","response_rate":"537 familles\/families (248 : MSH1 mutation, 256 MSH2 mutation, 33 MSH6 mutation). 2622 patients"},"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":"","conditions":"Contacter le responsable scientifique","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":"18-05-2015","lastUpdatedAuto":null,"lastUpdatedManual":"01-01-2019","isContributorPI":"Non","contributorName":"Christine LASSET","contributorAffiliation":"CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"","link":"http:\/\/www.hnpcc-lynch.com\/?p=515"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Priv\u00e9 \u00e0 but non lucratif"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Priv\u00e9 \u00e0 but non lucratif"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"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":"","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"Sexe, age, age du dernier suivi, histoire du cancer (site, age du diagnostice, mort), mutation statut, modalit\u00e9 de surveillance colonoscipic, chirurgie colorectal ou gyn\u00e9cologique","biologicalDataDetails":"","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}