{"doc_desc":{"title":"Longitudinal study of variants of BRCA1 and BRCA2 genes","idno":"FRESH-PEF33456-en","producers":[{"name":"Fabienne LESUEUR","affiliation":"INSTITUT CURIE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF33456-en","IDno":{"metadata_no":[{"agency":"PEF","code":"33456"},{"agency":"FReSH","code":"FRESH-PEF33456"}]},"title":"Longitudinal study of variants of BRCA1 and BRCA2 genes","alternate_title":"BRCA Share"},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Sandrine;CAPUTO","PILabo":"Institut \/ Service de G\u00e9n\u00e9tique","affiliationName":"INSTITUT CURIE","extlink":[{"title":"ORCID","uri":"0000-0001-5338-9388","role":"pi id"},{"title":"IdRef","uri":"111394759","role":"pi id"},{"title":"SIREN","uri":"784257164","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"sandrine.caputo@curie.fr","isContact":"Yes"},{"type":"investigator","name":"Dominique;STOPPA-LYONNET","PILabo":"Institut \/ Service de g\u00e9n\u00e9tique","affiliationName":"INSTITUT CURIE","extlink":[{"title":"ORCID","uri":"0000-0002-5438-8309","role":"pi id"},{"title":"IdRef","uri":"050298550","role":"pi id"},{"title":"SIREN","uri":"784257164","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"","isContact":"No"},{"type":"investigator","name":"Fabienne;LESUEUR","PILabo":"","affiliationName":"INSTITUT CURIE","extlink":[{"title":"ORCID","uri":"0000-0001-7404-4549","role":"pi id"},{"title":"IdRef","uri":"165329939","role":"pi id"},{"title":"SIREN","uri":"784257164","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"fabienne.lesueur@curie.fr","isContact":"Yes"}],"oth_id":[{"name":"ENIGMA Consortiums and the BRCA Challenge of the \"Global Alliance for Genomics and Health\"","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"INSTITUT CURIE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/04t0gwh46","role":"sponsor id"},{"title":"SIREN","uri":"784257164","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"INSERM TRANSFERT","extlink":[{"title":"SIREN","uri":"434033619"}]},{"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":"QUEST DIAGNOSTICS LTD","extlink":[{"title":"SIREN","uri":"424251874"}]},{"name":"UniCancer Group","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/04vhgtv41"}]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Sandrine;CAPUTO","email":"sandrine.caputo@curie.fr","type":"contact","affiliationName":"INSTITUT CURIE","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/04t0gwh46","role":"organisation id","title":"ROR"},{"uri":"784257164","role":"organisation id","title":"SIREN"}]},{"name":"Fabienne;LESUEUR","email":"fabienne.lesueur@curie.fr","type":"contact","affiliationName":"INSTITUT CURIE","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/04t0gwh46","role":"organisation id","title":"ROR"},{"uri":"784257164","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"ovary"},{"keyword":"clinical and biological database"},{"keyword":"BRCA1"},{"keyword":"BRCA2"},{"keyword":"cancer"},{"keyword":"breast"},{"keyword":"mutation"}],"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":"Malignant neoplasms of breast","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1047754165","title":"CIM-11"}]},{"topic":"Malignant neoplasms of ovary","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/685124533","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"The purpose of BRCA Share\u2122 is to accelerate research on BRCA gene mutations, particularly on the variants of unknown significance, in order to improve the ability to diagnose and identify individuals predisposed to developing breast or ovarian cancer.","abstract":"","coll_dates":[{"start":"2000-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Male\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\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            \"value\": \"Aged (65 to 79 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Aged, 80 and over (80 years and more)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Patients with BRCA1 and BRCA2 gene mutations presenting at a participating centre\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data']","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\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Converting or copying information into a structured record\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"[10000-20000[ individuals","response_rate":"16015"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational 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":"","conditions":"Contact the principal investigator","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":"04-03-2015","lastUpdatedAuto":null,"lastUpdatedManual":"12-09-2017","isContributorPI":"No","contributorName":"Fabienne LESUEUR","contributorAffiliation":"INSTITUT CURIE","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"","link":"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22144684"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Private non-profit","Public (France)","Industry","Private non-profit","Public (France)"],"otherFundingAgentType":["","","","",""]},"sponsor":{"sponsorType":["Private non-profit"],"otherSponsorType":[""]},"governance":{"committee":"Yes"},"collaborations":{"networkConsortium":"Yes"},"theme":{"complementaryInformation":"","RareDiseases":"Yes"},"activeFollowUp":{"isActiveFollowUp":"Yes","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":"No"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"Family data collected from genetics appointments","biologicalDataDetails":"","isDataInBiobank":"Yes","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Yes","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}