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Longitudinal study of variants of BRCA1 and BRCA2 genes

France, 2000 - 3000
Reference ID
FRESH-PEF33456-en
Producer(s)
Sandrine;CAPUTO, Dominique;STOPPA-LYONNET, Fabienne;LESUEUR
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Feb 18, 2026
Page views
37
  • Study Description
  • Get Microdata
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts
  • Identification

    Survey ID number

    FRESH-PEF33456-en

    Title

    Longitudinal study of variants of BRCA1 and BRCA2 genes

    Abbreviation or Acronym

    BRCA Share

    Country
    Name Country code
    France fr
    Kind of Data

    ['Clinical data']

    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Oncology health theme
    Malignant neoplasms of breast cim-11
    Malignant neoplasms of ovary cim-11
    Biological determinants: Genetic predisposition health determinant
    Biological determinants health determinant
    Keywords
    ovary clinical and biological database BRCA1 BRCA2 cancer breast mutation

    Coverage

    Universe

    {"level_sex_clusion_I":[{"value":"Male","concept":{"vocab":"MeSH","vocabURI":"D008297"}},{"value":"Female","concept":{"vocab":"MeSH","vocabURI":"D005260"}}],"level_age_clusion_I":[{"value":"Young Adult (19 to 24 years)","concept":{"vocab":"MeSH","vocabURI":"D055815"}},{"value":"Adult (25 to 44 years)","concept":{"vocab":"MeSH","vocabURI":"D000328"}},{"value":"Middle Aged (45 to 64 years)","concept":{"vocab":"MeSH","vocabURI":"D008875"}},{"value":"Aged (65 to 79 years)","concept":{"vocab":"MeSH","vocabURI":"D000368"}},{"value":"Aged, 80 and over (80 years and more)","concept":{"vocab":"MeSH","vocabURI":"D000369"}}],"level_type_clusion_I":"Patients population","level_type_clusion_other":"","clusion_I":"Patients with BRCA1 and BRCA2 gene mutations presenting at a participating centre","clusion_E":""}

    Producers and sponsors

    Primary investigators
    Name
    Sandrine;CAPUTO
    Dominique;STOPPA-LYONNET
    Fabienne;LESUEUR
    Producers
    Name Role
    INSTITUT CURIE sponsor
    Funding Agency/Sponsor
    Name
    INSERM TRANSFERT
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
    QUEST DIAGNOSTICS LTD
    UniCancer Group
    Other Identifications/Acknowledgments
    Name
    ENIGMA Consortiums and the BRCA Challenge of the "Global Alliance for Genomics and Health"

    Study authorization

    Agency
    Agency name
    CNIL

    Sampling

    Sample frame

    Unit Type

    ['Through organizations (health services or institutions, schools, businesses, etc.)']

    Sampling Procedure

    ['{"concept":{"vocabURI":"Other","vocab":"CESSDA"},"value":"Other"}']

    Survey instrument

    Questionnaires

    Access on specific project only

    Methodology notes

    Observational Study

    Data collection

    Dates of Data Collection
    Start End
    2000-01-01 3000-01-01
    Mode of data collection
    • {"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)"}

    Study activities

    Study activities
    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity Health event/mortality

    Data Access

    Access conditions

    Contact the principal investigator

    Availability Status

    {"value":"Restricted access","extLink":[{"title":"COAR","uri":"http://purl.org/coar/access_right/c_16ec"}]}

    Contacts

    Contacts
    Name Email
    Sandrine;CAPUTO sandrine.caputo@curie.fr
    Fabienne;LESUEUR fabienne.lesueur@curie.fr
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