Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium</title><author><name sortKey="Whiley, P" sort="Whiley, P" uniqKey="Whiley P" first="P" last="Whiley">P. Whiley</name><affiliation><nlm:aff id="I1">Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Walker, Lc" sort="Walker, Lc" uniqKey="Walker L" first="Lc" last="Walker">Lc Walker</name><affiliation><nlm:aff id="I1">Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="De La Hoya, M" sort="De La Hoya, M" uniqKey="De La Hoya M" first="M" last="De La Hoya">M. De La Hoya</name><affiliation><nlm:aff id="I8">Laboratorio Oncología Molecular, Hospital Clínico San Carlos, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, B" sort="Wappenschmidt, B" uniqKey="Wappenschmidt B" first="B" last="Wappenschmidt">B. Wappenschmidt</name><affiliation><nlm:aff id="I6">Department of Obstetrics & Gynecology, University Hospital Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Becker, A" sort="Becker, A" uniqKey="Becker A" first="A" last="Becker">A. Becker</name><affiliation><nlm:aff id="I6">Department of Obstetrics & Gynecology, University Hospital Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Blanco, A" sort="Blanco, A" uniqKey="Blanco A" first="A" last="Blanco">A. Blanco</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Blok, Mj" sort="Blok, Mj" uniqKey="Blok M" first="Mj" last="Blok">Mj Blok</name><affiliation><nlm:aff id="I9">Department of Clinical Genetics, Maastricht University Medical Centre, Maastrict, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Caligo, Ma" sort="Caligo, Ma" uniqKey="Caligo M" first="Ma" last="Caligo">Ma Caligo</name><affiliation><nlm:aff id="I16">Istituto di Anatomia Patologica, Università di Pisa, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Chatfield, C" sort="Chatfield, C" uniqKey="Chatfield C" first="C" last="Chatfield">C. Chatfield</name><affiliation><nlm:aff id="I14">Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Couch, F" sort="Couch, F" uniqKey="Couch F" first="F" last="Couch">F. Couch</name><affiliation><nlm:aff id="I13">Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USA</nlm:aff></affiliation></author><author><name sortKey="Diez, O" sort="Diez, O" uniqKey="Diez O" first="O" last="Diez">O. Diez</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Fachal, L" sort="Fachal, L" uniqKey="Fachal L" first="L" last="Fachal">L. Fachal</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Guidugli, L" sort="Guidugli, L" uniqKey="Guidugli L" first="L" last="Guidugli">L. Guidugli</name><affiliation><nlm:aff id="I13">Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USA</nlm:aff></affiliation></author><author><name sortKey="Enriquez, S Gutierrez" sort="Enriquez, S Gutierrez" uniqKey="Enriquez S" first="S Gutiérrez" last="Enríquez">S Gutiérrez Enríquez</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Hansen, T" sort="Hansen, T" uniqKey="Hansen T" first="T" last="Hansen">T. Hansen</name><affiliation><nlm:aff id="I7">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Houdayer, C" sort="Houdayer, C" uniqKey="Houdayer C" first="C" last="Houdayer">C. Houdayer</name><affiliation><nlm:aff id="I11">Génétique Constitutionnelle, Institut Curie, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Imrie, S" sort="Imrie, S" uniqKey="Imrie S" first="S" last="Imrie">S. Imrie</name><affiliation><nlm:aff id="I18">West of Scotland Regional Genetics Service, Glasgow, Scotland, UK</nlm:aff></affiliation></author><author><name sortKey="Lafferty, A" sort="Lafferty, A" uniqKey="Lafferty A" first="A" last="Lafferty">A. Lafferty</name><affiliation><nlm:aff id="I18">West of Scotland Regional Genetics Service, Glasgow, Scotland, UK</nlm:aff></affiliation></author><author><name sortKey="Lazaro, C" sort="Lazaro, C" uniqKey="Lazaro C" first="C" last="Lázaro">C. Lázaro</name><affiliation><nlm:aff id="I4">Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d’Oncologia, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Menendez, M" sort="Menendez, M" uniqKey="Menendez M" first="M" last="Menéndez">M. Menéndez</name><affiliation><nlm:aff id="I4">Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d’Oncologia, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Montagna, M" sort="Montagna, M" uniqKey="Montagna M" first="M" last="Montagna">M. Montagna</name><affiliation><nlm:aff id="I12">Instituto Oncologico Veneto, U.O.C. Immunologia e Diagnostica Molecolare Oncologica, Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Montalban, G" sort="Montalban, G" uniqKey="Montalban G" first="G" last="Montalbán">G. Montalbán</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Santamari A, M" sort="Santamari A, M" uniqKey="Santamari A M" first="M" last="Santamari A">M. Santamari A</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Pederson, I Sokilde" sort="Pederson, I Sokilde" uniqKey="Pederson I" first="I Sokilde" last="Pederson">I Sokilde Pederson</name><affiliation><nlm:aff id="I17">Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark</nlm:aff></affiliation></author><author><name sortKey="Southey, M" sort="Southey, M" uniqKey="Southey M" first="M" last="Southey">M. Southey</name><affiliation><nlm:aff id="I14">Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Tancredi, M" sort="Tancredi, M" uniqKey="Tancredi M" first="M" last="Tancredi">M. Tancredi</name><affiliation><nlm:aff id="I16">Istituto di Anatomia Patologica, Università di Pisa, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Tenes, A" sort="Tenes, A" uniqKey="Tenes A" first="A" last="Tenès">A. Tenès</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Thomassen, M" sort="Thomassen, M" uniqKey="Thomassen M" first="M" last="Thomassen">M. Thomassen</name><affiliation><nlm:aff id="I5">Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark</nlm:aff></affiliation></author><author><name sortKey="Van Overeem Vega, A" sort="Van Overeem Vega, A" uniqKey="Van Overeem Vega A" first="A" last="Van Overeem Vega">A. Van Overeem Vega</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Ab" sort="Spurdle, Ab" uniqKey="Spurdle A" first="Ab" last="Spurdle">Ab Spurdle</name><affiliation><nlm:aff id="I1">Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Brown, Ma" sort="Brown, Ma" uniqKey="Brown M" first="Ma" last="Brown">Ma Brown</name><affiliation><nlm:aff id="I2">School of Chemistry and Molecular Biosciences, University of Queensland, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmc">3327263</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327263</idno><idno type="RBID">PMC:3327263</idno><idno type="doi">10.1186/1897-4287-10-S2-A87</idno><idno type="pmid">NONE</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001158</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001158</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium</title><author><name sortKey="Whiley, P" sort="Whiley, P" uniqKey="Whiley P" first="P" last="Whiley">P. Whiley</name><affiliation><nlm:aff id="I1">Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Walker, Lc" sort="Walker, Lc" uniqKey="Walker L" first="Lc" last="Walker">Lc Walker</name><affiliation><nlm:aff id="I1">Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="De La Hoya, M" sort="De La Hoya, M" uniqKey="De La Hoya M" first="M" last="De La Hoya">M. De La Hoya</name><affiliation><nlm:aff id="I8">Laboratorio Oncología Molecular, Hospital Clínico San Carlos, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, B" sort="Wappenschmidt, B" uniqKey="Wappenschmidt B" first="B" last="Wappenschmidt">B. Wappenschmidt</name><affiliation><nlm:aff id="I6">Department of Obstetrics & Gynecology, University Hospital Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Becker, A" sort="Becker, A" uniqKey="Becker A" first="A" last="Becker">A. Becker</name><affiliation><nlm:aff id="I6">Department of Obstetrics & Gynecology, University Hospital Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Blanco, A" sort="Blanco, A" uniqKey="Blanco A" first="A" last="Blanco">A. Blanco</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Blok, Mj" sort="Blok, Mj" uniqKey="Blok M" first="Mj" last="Blok">Mj Blok</name><affiliation><nlm:aff id="I9">Department of Clinical Genetics, Maastricht University Medical Centre, Maastrict, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Caligo, Ma" sort="Caligo, Ma" uniqKey="Caligo M" first="Ma" last="Caligo">Ma Caligo</name><affiliation><nlm:aff id="I16">Istituto di Anatomia Patologica, Università di Pisa, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Chatfield, C" sort="Chatfield, C" uniqKey="Chatfield C" first="C" last="Chatfield">C. Chatfield</name><affiliation><nlm:aff id="I14">Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Couch, F" sort="Couch, F" uniqKey="Couch F" first="F" last="Couch">F. Couch</name><affiliation><nlm:aff id="I13">Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USA</nlm:aff></affiliation></author><author><name sortKey="Diez, O" sort="Diez, O" uniqKey="Diez O" first="O" last="Diez">O. Diez</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Fachal, L" sort="Fachal, L" uniqKey="Fachal L" first="L" last="Fachal">L. Fachal</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Guidugli, L" sort="Guidugli, L" uniqKey="Guidugli L" first="L" last="Guidugli">L. Guidugli</name><affiliation><nlm:aff id="I13">Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USA</nlm:aff></affiliation></author><author><name sortKey="Enriquez, S Gutierrez" sort="Enriquez, S Gutierrez" uniqKey="Enriquez S" first="S Gutiérrez" last="Enríquez">S Gutiérrez Enríquez</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Hansen, T" sort="Hansen, T" uniqKey="Hansen T" first="T" last="Hansen">T. Hansen</name><affiliation><nlm:aff id="I7">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Houdayer, C" sort="Houdayer, C" uniqKey="Houdayer C" first="C" last="Houdayer">C. Houdayer</name><affiliation><nlm:aff id="I11">Génétique Constitutionnelle, Institut Curie, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Imrie, S" sort="Imrie, S" uniqKey="Imrie S" first="S" last="Imrie">S. Imrie</name><affiliation><nlm:aff id="I18">West of Scotland Regional Genetics Service, Glasgow, Scotland, UK</nlm:aff></affiliation></author><author><name sortKey="Lafferty, A" sort="Lafferty, A" uniqKey="Lafferty A" first="A" last="Lafferty">A. Lafferty</name><affiliation><nlm:aff id="I18">West of Scotland Regional Genetics Service, Glasgow, Scotland, UK</nlm:aff></affiliation></author><author><name sortKey="Lazaro, C" sort="Lazaro, C" uniqKey="Lazaro C" first="C" last="Lázaro">C. Lázaro</name><affiliation><nlm:aff id="I4">Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d’Oncologia, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Menendez, M" sort="Menendez, M" uniqKey="Menendez M" first="M" last="Menéndez">M. Menéndez</name><affiliation><nlm:aff id="I4">Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d’Oncologia, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Montagna, M" sort="Montagna, M" uniqKey="Montagna M" first="M" last="Montagna">M. Montagna</name><affiliation><nlm:aff id="I12">Instituto Oncologico Veneto, U.O.C. Immunologia e Diagnostica Molecolare Oncologica, Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Montalban, G" sort="Montalban, G" uniqKey="Montalban G" first="G" last="Montalbán">G. Montalbán</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Santamari A, M" sort="Santamari A, M" uniqKey="Santamari A M" first="M" last="Santamari A">M. Santamari A</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Pederson, I Sokilde" sort="Pederson, I Sokilde" uniqKey="Pederson I" first="I Sokilde" last="Pederson">I Sokilde Pederson</name><affiliation><nlm:aff id="I17">Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark</nlm:aff></affiliation></author><author><name sortKey="Southey, M" sort="Southey, M" uniqKey="Southey M" first="M" last="Southey">M. Southey</name><affiliation><nlm:aff id="I14">Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Tancredi, M" sort="Tancredi, M" uniqKey="Tancredi M" first="M" last="Tancredi">M. Tancredi</name><affiliation><nlm:aff id="I16">Istituto di Anatomia Patologica, Università di Pisa, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Tenes, A" sort="Tenes, A" uniqKey="Tenes A" first="A" last="Tenès">A. Tenès</name><affiliation><nlm:aff id="I15">Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</nlm:aff></affiliation></author><author><name sortKey="Thomassen, M" sort="Thomassen, M" uniqKey="Thomassen M" first="M" last="Thomassen">M. Thomassen</name><affiliation><nlm:aff id="I5">Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark</nlm:aff></affiliation></author><author><name sortKey="Van Overeem Vega, A" sort="Van Overeem Vega, A" uniqKey="Van Overeem Vega A" first="A" last="Van Overeem Vega">A. Van Overeem Vega</name><affiliation><nlm:aff id="I10">Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Ab" sort="Spurdle, Ab" uniqKey="Spurdle A" first="Ab" last="Spurdle">Ab Spurdle</name><affiliation><nlm:aff id="I1">Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Brown, Ma" sort="Brown, Ma" uniqKey="Brown M" first="Ma" last="Brown">Ma Brown</name><affiliation><nlm:aff id="I2">School of Chemistry and Molecular Biosciences, University of Queensland, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">Hereditary Cancer in Clinical Practice</title><idno type="ISSN">1731-2302</idno><idno type="eISSN">1897-4287</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader></TEI><pmc article-type="abstract" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hered Cancer Clin Pract</journal-id><journal-id journal-id-type="iso-abbrev">Hered Cancer Clin Pract</journal-id><journal-title-group><journal-title>Hereditary Cancer in Clinical Practice</journal-title></journal-title-group><issn pub-type="ppub">1731-2302</issn><issn pub-type="epub">1897-4287</issn><publisher><publisher-name>BioMed Central</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmc">3327263</article-id><article-id pub-id-type="publisher-id">1897-4287-10-S2-A87</article-id><article-id pub-id-type="doi">10.1186/1897-4287-10-S2-A87</article-id><article-categories><subj-group subj-group-type="heading"><subject>Meeting Abstract</subject></subj-group></article-categories><title-group><article-title>A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes" id="A1"><name><surname>Whiley</surname><given-names>P</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><contrib contrib-type="author" id="A2"><name><surname>Walker</surname><given-names>LC</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><on-behalf-of>kConFab </on-behalf-of><contrib contrib-type="author" id="A4"><name><surname>De LA Hoya</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I8">8</xref></contrib><contrib contrib-type="author" id="A5"><name><surname>Wappenschmidt</surname><given-names>B</given-names></name><xref ref-type="aff" rid="I6">6</xref></contrib><contrib contrib-type="author" id="A6"><name><surname>Becker</surname><given-names>A</given-names></name><xref ref-type="aff" rid="I6">6</xref></contrib><contrib contrib-type="author" id="A7"><name><surname>Blanco</surname><given-names>A</given-names></name><xref ref-type="aff" rid="I10">10</xref></contrib><contrib contrib-type="author" id="A8"><name><surname>Blok</surname><given-names>MJ</given-names></name><xref ref-type="aff" rid="I9">9</xref></contrib><contrib contrib-type="author" id="A9"><name><surname>Caligo</surname><given-names>MA</given-names></name><xref ref-type="aff" rid="I16">16</xref></contrib><contrib contrib-type="author" id="A10"><name><surname>Chatfield</surname><given-names>C</given-names></name><xref ref-type="aff" rid="I14">14</xref></contrib><contrib contrib-type="author" id="A11"><name><surname>Couch</surname><given-names>F</given-names></name><xref ref-type="aff" rid="I13">13</xref></contrib><contrib contrib-type="author" id="A12"><name><surname>Diez</surname><given-names>O</given-names></name><xref ref-type="aff" rid="I15">15</xref></contrib><contrib contrib-type="author" id="A13"><name><surname>Fachal</surname><given-names>L</given-names></name><xref ref-type="aff" rid="I10">10</xref></contrib><contrib contrib-type="author" id="A14"><name><surname>Guidugli</surname><given-names>L</given-names></name><xref ref-type="aff" rid="I13">13</xref></contrib><contrib contrib-type="author" id="A15"><name><surname>Enríquez</surname><given-names>S Gutiérrez</given-names></name><xref ref-type="aff" rid="I15">15</xref></contrib><contrib contrib-type="author" id="A16"><name><surname>Hansen</surname><given-names>T</given-names></name><xref ref-type="aff" rid="I7">7</xref></contrib><contrib contrib-type="author" id="A17"><name><surname>Houdayer</surname><given-names>C</given-names></name><xref ref-type="aff" rid="I11">11</xref></contrib><contrib contrib-type="author" id="A18"><name><surname>Imrie</surname><given-names>S</given-names></name><xref ref-type="aff" rid="I18">18</xref></contrib><contrib contrib-type="author" id="A19"><name><surname>Lafferty</surname><given-names>A</given-names></name><xref ref-type="aff" rid="I18">18</xref></contrib><contrib contrib-type="author" id="A20"><name><surname>Lázaro</surname><given-names>C</given-names></name><xref ref-type="aff" rid="I4">4</xref></contrib><contrib contrib-type="author" id="A21"><name><surname>Menéndez</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I4">4</xref></contrib><contrib contrib-type="author" id="A22"><name><surname>Montagna</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I12">12</xref></contrib><contrib contrib-type="author" id="A23"><name><surname>Montalbán</surname><given-names>G</given-names></name><xref ref-type="aff" rid="I15">15</xref></contrib><contrib contrib-type="author" id="A24"><name><surname>Santamariña</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I10">10</xref></contrib><contrib contrib-type="author" id="A25"><name><surname>Pederson</surname><given-names>I Sokilde</given-names></name><xref ref-type="aff" rid="I17">17</xref></contrib><contrib contrib-type="author" id="A26"><name><surname>Southey</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I14">14</xref></contrib><contrib contrib-type="author" id="A27"><name><surname>Tancredi</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I16">16</xref></contrib><contrib contrib-type="author" id="A28"><name><surname>Tenès</surname><given-names>A</given-names></name><xref ref-type="aff" rid="I15">15</xref></contrib><contrib contrib-type="author" id="A29"><name><surname>Thomassen</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I5">5</xref></contrib><contrib contrib-type="author" id="A30"><name><surname>Van Overeem Vega</surname><given-names>A</given-names></name><xref ref-type="aff" rid="I10">10</xref></contrib><contrib contrib-type="author" id="A31"><name><surname>Spurdle</surname><given-names>AB</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><contrib contrib-type="author" id="A32"><name><surname>Brown</surname><given-names>MA</given-names></name><xref ref-type="aff" rid="I2">2</xref></contrib></contrib-group><aff id="I1"><label>1</label>Genetic & Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</aff><aff id="I2"><label>2</label>School of Chemistry and Molecular Biosciences, University of Queensland, Australia</aff><aff id="I3"><label>3</label>Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia</aff><aff id="I4"><label>4</label>Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d’Oncologia, Barcelona, Spain</aff><aff id="I5"><label>5</label>Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark</aff><aff id="I6"><label>6</label>Department of Obstetrics & Gynecology, University Hospital Cologne, Cologne, Germany</aff><aff id="I7"><label>7</label>Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark</aff><aff id="I8"><label>8</label>Laboratorio Oncología Molecular, Hospital Clínico San Carlos, Madrid, Spain</aff><aff id="I9"><label>9</label>Department of Clinical Genetics, Maastricht University Medical Centre, Maastrict, The Netherlands</aff><aff id="I10"><label>10</label>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain</aff><aff id="I11"><label>11</label>Génétique Constitutionnelle, Institut Curie, Paris, France</aff><aff id="I12"><label>12</label>Instituto Oncologico Veneto, U.O.C. Immunologia e Diagnostica Molecolare Oncologica, Padua, Italy</aff><aff id="I13"><label>13</label>Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USA</aff><aff id="I14"><label>14</label>Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia</aff><aff id="I15"><label>15</label>Oncogenetics Laboratory, Vall d’Hebron Institute of Oncology (VHIO), University Hospital Vall d’Hebron, Barcelona. Spain</aff><aff id="I16"><label>16</label>Istituto di Anatomia Patologica, Università di Pisa, Pisa, Italy</aff><aff id="I17"><label>17</label>Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark</aff><aff id="I18"><label>18</label>West of Scotland Regional Genetics Service, Glasgow, Scotland, UK</aff><pub-date pub-type="collection"><year>2012</year></pub-date><pub-date pub-type="epub"><day>12</day><month>4</month><year>2012</year></pub-date><volume>10</volume><issue>Suppl 2</issue><supplement><named-content content-type="supplement-title">Familial Aspects of Cancer 2011 Research and Practice</named-content><named-content content-type="supplement-editor">Rodney Scott</named-content></supplement><fpage>A87</fpage><lpage>A87</lpage><permissions><copyright-statement>Copyright ©2012 Whiley et al; licensee BioMed Central Ltd.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>Whiley et al; licensee BioMed Central Ltd.</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:href="http://www.hccpjournal.com/content/10/S2/A87"></self-uri><conference><conf-date>23-26 August 2011</conf-date><conf-name>Familial Aspects of Cancer 2011 Research and Practice: A combined meeting of kConFab, Australian Breast Cancer Family Study, Australian Colorectal Cancer Family Study, Australian Ovarian Cancer Study, Family Cancer Clinics of Australia and New Zealand and kConFab</conf-name><conf-loc>Kingscliff, Australia</conf-loc></conference></article-meta></front><body><sec><title></title><p>Classification of intronic and predicted missense changes in the breast cancer susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2</italic> remains a significant challenge for management of patients carrying these variants. Defective mRNA splicing is established as a pathway to disease, and mRNA analysis of unclassified variants has been shown to assist in classification and genetic counselling. However the interpretation of splicing assay results can be difficult, particularly for those variants that give rise to aberrations in a background of naturally occurring isoforms.</p><p>The ENIGMA (<underline>E</underline>vidence-based <underline>N</underline>etwork for the <underline>I</underline>nterpretation of <underline>G</underline>ermline <underline>M</underline>utant <underline>A</underline>lleles) consortium was set up to facilitate research and improve research methods used to classify rare variants in the <italic>BRCA1</italic> and <italic>BRCA2</italic> (and potentially other) breast cancer predisposition genes. ENIGMA has established a Splicing Working Group, with stated purpose to pool the expertise of different active research groups to conduct large-scale studies that improve the clinical classification of likely spliceogenic variants. An initial project of the Splicing Working Group is to assess the consistency of protocols and results obtained across the multiple participating laboratories from Australia, Europe, UK and the USA. A comparison of mRNA assay protocols in use across 21 labs has identified differences in source material for RNA assays (cultured and uncultured lymphocytes, lymphoblastoid cell lines (LCLs) or constructs), differential use of nonsense-mediated decay inhibitors, and numerous differences in mRNA extraction, DNase treatment and cDNA synthesis methods. A second phase of the project is now underway to determine the impact of the splicing assay methods routinely used by these laboratories on assay data and clinical interpretation of a panel of variants. LCLs were selected from the kConFab repository from carriers of a variant associated with single major aberrant mRNA transcript absent in controls (n=4); carriers of a variant associated with a complicated aberrant mRNA splicing profile involving multiple transcripts including naturally occurring isoforms (n=5); female cancer-free controls (n=11). LCLs have already been distributed to 15 of 20 participating sites, and mRNA assays are underway. Preliminary results indicate that major aberrations associated with several variants mirror results previously observed for mRNA from uncultured lymphocytes. In addition, there is evidence for notable differences in expression of some isoforms compared to results previously observed for RNA from uncultured lymphocytes . This collaborative effort will provide information to inform optimal standardised mRNA splicing assay methodology, and to improve guidelines for clinical interpretation of assay results.</p></sec></body></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001158 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001158 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.33. |  |