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<docDscr>
  <citation>
    <titlStmt>
      <titl>Longitudinal study of variants of BRCA1 and BRCA2 genes</titl>
      <IDNo>FRESH-PEF33456-en</IDNo>
    </titlStmt>
    <prodStmt>
      <producer abbr="" affiliation="INSTITUT CURIE" role="">Fabienne LESUEUR</producer>
    </prodStmt>
    <verStmt>
      <version></version>
    </verStmt>
  </citation>
</docDscr>
<stdyDscr>
  <citation>
    <titlStmt>
      <titl>
                Longitudinal study of variants of BRCA1 and BRCA2 genes            </titl>
      <altTitl>
                    BRCA Share                </altTitl>
      <IDNo agency="FReSH-lang">
                FRESH-PEF33456-en            </IDNo>
      <IDNo agency="PEF">
                    33456                </IDNo>
      <IDNo agency="FReSH">
                    FRESH-PEF33456                </IDNo>
    </titlStmt>
    <rspStmt>
      <AuthEnty>
                    Sandrine CAPUTO                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="INSTITUT CURIE">
        <ExtLink title="ROR" URI="https://ror.org/04t0gwh46" role="organisation id"/>
        <ExtLink title="SIREN" URI="784257164" role="organisation id"/>
      </AuthEnty>
      <AuthEnty>
                    Dominique STOPPA-LYONNET                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="INSTITUT CURIE">
        <ExtLink title="ROR" URI="https://ror.org/04t0gwh46" role="organisation id"/>
        <ExtLink title="SIREN" URI="784257164" role="organisation id"/>
      </AuthEnty>
      <AuthEnty>
                    Fabienne LESUEUR                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="INSTITUT CURIE">
        <ExtLink title="ROR" URI="https://ror.org/04t0gwh46" role="organisation id"/>
        <ExtLink title="SIREN" URI="784257164" role="organisation id"/>
      </AuthEnty>
      <othId affiliation="ENIGMA Consortiums and the BRCA Challenge of the &amp;quot Global Alliance for Genomics and Health&amp;quot" type="collaboration">
                                    </othId>
    </rspStmt>
    <prodStmt>
      <producer role="sponsor">
                                            INSTITUT CURIE                    
                                    </producer>
      <prodPlac>
                Epidemiology France Portal (PEF)            </prodPlac>
      <fundAg>
                                            INSERM TRANSFERT                    
                                    </fundAg>
      <fundAg>
                                            INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)                    
                                    </fundAg>
      <fundAg>
                                            QUEST DIAGNOSTICS LTD                    
                                    </fundAg>
      <fundAg>
                                            UniCancer Group                    
                                    </fundAg>
    </prodStmt>
    <distStmt>
      <distrbtr abbr="null">
                    null</distrbtr>
      <contact affiliation="INSTITUT CURIE" email="sandrine.caputo@curie.fr">
                    Sandrine;CAPUTO
                                            <ExtLink title="ROR" URI="https://ror.org/04t0gwh46" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="784257164" role="organisation id"/>
                                    </contact>
      <contact affiliation="INSTITUT CURIE" email="fabienne.lesueur@curie.fr">
                    Fabienne;LESUEUR
                                            <ExtLink title="ROR" URI="https://ror.org/04t0gwh46" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="784257164" role="organisation id"/>
                                    </contact>
      <depDate date="2026-06-17"/>
      <distDate date="2026-06-17"/>
    </distStmt>
    <biblCit format="">
            </biblCit>
    <holdings URI="null"/>
    <notes> </notes>
  </citation>
  <stdyInfo>
    <studyBudget/>
    <subject>
      <keyword vocab="" vocabURI="">
                    ovary</keyword>
      <keyword vocab="" vocabURI="">
                    clinical and biological database</keyword>
      <keyword vocab="" vocabURI="">
                    BRCA1</keyword>
      <keyword vocab="" vocabURI="">
                    BRCA2</keyword>
      <keyword vocab="" vocabURI="">
                    cancer</keyword>
      <keyword vocab="" vocabURI="">
                    breast</keyword>
      <keyword vocab="" vocabURI="">
                    mutation</keyword>
      <topcClas vocab="health theme">
                        Oncology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/5784b7f1-c7ce-49d9-9f38-aebcda0ff41d"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D008495"/>
                                                </topcClas>
      <topcClas vocab="cim-11">
                        Malignant neoplasms of breast                                            </topcClas>
      <topcClas vocab="cim-11">
                        Malignant neoplasms of ovary                                            </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants: Genetic predisposition                    </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants                    </topcClas>
    </subject>
    <abstract contentType="purpose">The purpose of BRCA Share™ 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>
    <abstract contentType="abstract">null</abstract>
    <sumDscr>
      <collDate event="start" date="2000-01-01"/>
      <nation abbr="fr">
                    France
                                            <concept vocab="ISO" vocabURI="fr"/>
                                    </nation>
      <geogUnit/>
      <anlyUnit>
                Individuals            </anlyUnit>
      <universe level="type" clusion="I">Patients population                    </universe>
      <universe level="sex" clusion="I">Male                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D008297"/>
                                                    </universe>
      <universe level="sex" clusion="I">Female                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D005260"/>
                                                    </universe>
      <universe level="age" clusion="I">Young Adult (19 to 24 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D055815"/>
                                                    </universe>
      <universe level="age" clusion="I">Adult (25 to 44 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D000328"/>
                                                    </universe>
      <universe level="age" clusion="I">Middle Aged (45 to 64 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D008875"/>
                                                    </universe>
      <universe level="age" clusion="I">Aged (65 to 79 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D000368"/>
                                                    </universe>
      <universe level="age" clusion="I">Aged, 80 and over (80 years and more)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D000369"/>
                                                    </universe>
      <universe clusion="I">Patients with BRCA1 and BRCA2 gene mutations presenting at a participating centre                    </universe>
      <dataKind>Clinical data</dataKind>
    </sumDscr>
  </stdyInfo>
  <studyDevelopment>
    <developmentActivity type="primary evaluation">
      <description>Health event/morbidity
Health event/mortality</description>
    </developmentActivity>
  </studyDevelopment>
  <method>
    <dataColl>
      <sampProc>Other                                                            <concept vocab="CESSDA" vocabURI="Other"/>
                                                    </sampProc>
      <sampleFrame>
        <frameUnit>
          <unitType>Through organizations (health services or institutions</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>schools</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>businesses</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>etc.)</unitType>
        </frameUnit>
      </sampleFrame>
      <targetSampleSize>
        <sampleSizeFormula>[10000-20000[ individuals                        </sampleSizeFormula>
      </targetSampleSize>
      <collMode>Converting or copying information into a structured record                                                            <concept vocab="CESSDA" vocabURI="Transcription"/>
                                                    </collMode>
      <collMode>Interview with the participant (including clinical)                                                            <concept vocab="CESSDA" vocabURI="Interview"/>
                                                    </collMode>
    </dataColl>
    <notes>Observational Study</notes>
    <notes subject="research type">
                        Observational Study                    </notes>
    <anlyInfo>
      <respRate>16015</respRate>
    </anlyInfo>
    <stdyClas>Unknown</stdyClas>
  </method>
  <dataAccs>
    <setAvail>
      <avlStatus>
                            Restricted access                                                    </avlStatus>
    </setAvail>
    <useStmt>
      <conditions>Contact the principal investigator</conditions>
    </useStmt>
  </dataAccs>
  <othrStdyMat>
    <relMat>Access on specific project only</relMat>
  </othrStdyMat>
</stdyDscr>
<dataDscr>
</dataDscr></codeBook>
