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<docDscr>
  <citation>
    <titlStmt>
      <titl>Cohort of French Families with Identified MMR Gene Mutation: Assessment of Cancer Risk</titl>
      <IDNo>FRESH-PEF73086-en</IDNo>
    </titlStmt>
    <prodStmt>
      <producer abbr="" affiliation="CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)" role="">Christine LASSET</producer>
    </prodStmt>
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<stdyDscr>
  <citation>
    <titlStmt>
      <titl>
                Cohort of French Families with Identified MMR Gene Mutation: Assessment of Cancer Risk            </titl>
      <altTitl>
                    ERISCAM                </altTitl>
      <IDNo agency="FReSH-lang">
                FRESH-PEF73086-en            </IDNo>
      <IDNo agency="PEF">
                    73086                </IDNo>
      <IDNo agency="FReSH">
                    FRESH-PEF73086                </IDNo>
    </titlStmt>
    <rspStmt>
      <AuthEnty>
                    Valérie BONADONA                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)">
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      </AuthEnty>
      <AuthEnty>
                    Christine LASSET                                                                                                                            </AuthEnty>
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      </AuthEnty>
      <AuthEnty>
                    Catherine BONAITI-PELLIE                                                                                                                            </AuthEnty>
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      </AuthEnty>
      <AuthEnty>
                    Sylviane OLSCHWANG                                                                                                                            </AuthEnty>
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                                    </othId>
    </rspStmt>
    <prodStmt>
      <producer role="sponsor">
                                            CENTRE LEON BERARD                    
                                    </producer>
      <prodPlac>
                Epidemiology France Portal (PEF)            </prodPlac>
      <fundAg>
                                            FONDATION DE FRANCE                    
                                    </fundAg>
    </prodStmt>
    <distStmt>
      <distrbtr abbr="null">
                    null</distrbtr>
      <contact affiliation="CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)" email="valerie.bonadona@lyon.unicancer.fr">
                    Valérie;BONADONA
                                            <ExtLink title="ROR" URI="https://ror.org/02feahw73" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="180089013" role="organisation id"/>
                                    </contact>
      <contact affiliation="CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS)" email="christine.lasset@lyon.unicancer.fr">
                    Christine;LASSET
                                            <ExtLink title="ROR" URI="https://ror.org/02feahw73" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="180089013" role="organisation id"/>
                                    </contact>
      <contact affiliation="INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)" email="catherine.bonaiti@inserm.fr">
                    Catherine;BONAITI-PELLIE
                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="180036048" role="organisation id"/>
                                    </contact>
      <contact affiliation="INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)" email="sylviane.olschwang@inserm.fr">
                    Sylviane;OLSCHWANG
                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="180036048" role="organisation id"/>
                                    </contact>
      <depDate date="2026-06-16"/>
      <distDate date="2026-06-16"/>
    </distStmt>
    <biblCit format="">
            </biblCit>
    <holdings URI="null"/>
    <notes> </notes>
  </citation>
  <stdyInfo>
    <studyBudget/>
    <subject>
      <keyword vocab="" vocabURI="">
                    Lynch syndrome</keyword>
      <keyword vocab="" vocabURI="">
                    gynaecology</keyword>
      <keyword vocab="" vocabURI="">
                    MMR genes</keyword>
      <keyword vocab="" vocabURI="">
                    cumulative risk</keyword>
      <keyword vocab="" vocabURI="">
                    MLH1</keyword>
      <keyword vocab="" vocabURI="">
                    MSH2</keyword>
      <keyword vocab="" vocabURI="">
                    MSH6</keyword>
      <keyword vocab="" vocabURI="">
                    colorectal</keyword>
      <keyword vocab="" vocabURI="">
                    cancer</keyword>
      <keyword vocab="" vocabURI="">
                    genetic</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="health theme">
                        Gynaecology and obstetrics                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/7de64596-5b0d-4977-8f98-b982ff2ec17d"/>
                                                            <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/284ca20c-beb4-4abe-99fa-ef4513358bad"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D006176"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D009774"/>
                                                </topcClas>
      <topcClas vocab="health theme">
                        Gastroenterology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/a3898340-a42d-4f5e-a822-1de204a9a867"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D005762"/>
                                                </topcClas>
      <topcClas vocab="health theme">
                        Hepatology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/27c456a1-051a-42f6-b52a-3beff0487da7"/>
                                                </topcClas>
      <topcClas vocab="cim-11">
                        Malignant neoplasms of colon                                            </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants: Genetic predisposition                    </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants                    </topcClas>
    </subject>
    <abstract contentType="purpose">The aim is to reliably and accurately determine the risks of different tumours in subjects with MMR gene mutations.</abstract>
    <abstract contentType="abstract">null</abstract>
    <sumDscr>
      <collDate event="start" date="2007-01-01"/>
      <collDate event="end" date="2009-01-01"/>
      <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">French families with an identified MMR gene mutation recruited throughout 40 cancer genetic consultation centres participating in the study; all members of the Cancer and Genetics Network.                    </universe>
      <dataKind>Clinical data</dataKind>
      <dataKind>Participant-reported health data</dataKind>
    </sumDscr>
  </stdyInfo>
  <method>
    <dataColl>
      <sampProc>Other                                                            <concept vocab="CESSDA" vocabURI="Other"/>
                                                    </sampProc>
      <sampleFrame>
        <frameUnit>
          <unitType>Medical-administrative database (patients</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>health insurance/mutual insurance) Disease and death registry</unitType>
        </frameUnit>
      </sampleFrame>
      <targetSampleSize>
        <sampleSizeFormula>[1000-10000[ 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>
    <notes subject="observational study method">
                        Cohort study                    </notes>
    <anlyInfo>
      <respRate>537 families (248: MSH1 mutation, 256 MSH2 mutation, 33 MSH6 mutation). 2,622 patients</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>
