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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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: An international initiative to evaluate risk and clinical significance associated with sequence variation in <italic>BRCA1</italic> and <italic>BRCA2</italic> genes</title><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Devereau, Andrew" sort="Devereau, Andrew" uniqKey="Devereau A" first="Andrew" last="Devereau">Andrew Devereau</name><affiliation><nlm:aff id="A2">NGRL Manchester, Genetic Medicine, St Mary’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans Bl" sort="Hogervorst, Frans Bl" uniqKey="Hogervorst F" first="Frans Bl" last="Hogervorst">Frans Bl Hogervorst</name><affiliation><nlm:aff id="A3">Netherlands Cancer Institute, Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Monteiro, Alvaro Na" sort="Monteiro, Alvaro Na" uniqKey="Monteiro A" first="Alvaro Na" last="Monteiro">Alvaro Na Monteiro</name><affiliation><nlm:aff id="A4">Cancer Epidemiology Program, Population Sciences Division, Moffitt Cancer Center, Tampa FL, USA</nlm:aff></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L" last="Nathanson">Katherine L. Nathanson</name><affiliation><nlm:aff id="A5">Dept of Medicine, Abramson Cancer Center, University of Pennsylvania, Philadelphia PA, USA</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="A6">Fondazione IRCCS, Istituto Nazionale Tumori and IFOM, FIRC Institute of Molecular Oncology, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="A7">Institut Curie, INSERM U830, and University Paris Descartes, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><affiliation><nlm:aff id="A8">Huntsman Cancer Institute and Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="A9">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="A10">Mayo Clinic College of Medicine, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A11">Department of Dermatology, University of Utah, Salt Lake City, Utah, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21990146</idno><idno type="pmc">3240687</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3240687</idno><idno type="RBID">PMC:3240687</idno><idno type="doi">10.1002/humu.21628</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001556</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001556</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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: An international initiative to evaluate risk and clinical significance associated with sequence variation in <italic>BRCA1</italic> and <italic>BRCA2</italic> genes</title><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Devereau, Andrew" sort="Devereau, Andrew" uniqKey="Devereau A" first="Andrew" last="Devereau">Andrew Devereau</name><affiliation><nlm:aff id="A2">NGRL Manchester, Genetic Medicine, St Mary’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans Bl" sort="Hogervorst, Frans Bl" uniqKey="Hogervorst F" first="Frans Bl" last="Hogervorst">Frans Bl Hogervorst</name><affiliation><nlm:aff id="A3">Netherlands Cancer Institute, Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Monteiro, Alvaro Na" sort="Monteiro, Alvaro Na" uniqKey="Monteiro A" first="Alvaro Na" last="Monteiro">Alvaro Na Monteiro</name><affiliation><nlm:aff id="A4">Cancer Epidemiology Program, Population Sciences Division, Moffitt Cancer Center, Tampa FL, USA</nlm:aff></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L" last="Nathanson">Katherine L. Nathanson</name><affiliation><nlm:aff id="A5">Dept of Medicine, Abramson Cancer Center, University of Pennsylvania, Philadelphia PA, USA</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="A6">Fondazione IRCCS, Istituto Nazionale Tumori and IFOM, FIRC Institute of Molecular Oncology, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="A7">Institut Curie, INSERM U830, and University Paris Descartes, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name><affiliation><nlm:aff id="A8">Huntsman Cancer Institute and Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="A9">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="A10">Mayo Clinic College of Medicine, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A11">Department of Dermatology, University of Utah, Salt Lake City, Utah, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need for clear interpretation of the test results is apparent. However, for many disease genes, including the breast cancer susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2</italic>, a significant fraction of tests result in the detection of a genetic variant for which disease association is not known. The finding of an ‘unclassified’ variant (UV)/variant of uncertain significance (VUS) complicates genetic test reporting and counseling. As these variants are individually rare, a large collaboration of researchers and clinicians will facilitate studies to assess their association with cancer predisposition. It was with this in mind that the ENIGMA consortium (<ext-link ext-link-type="uri" xlink:href="www.enigmaconsortium.org">www.enigmaconsortium.org</ext-link>) was initiated in 2009. The membership is both international and interdisciplinary, and currently includes more than 100 research scientists and clinicians from 19 countries. Within ENIGMA there are presently six working groups focused on the following topics: analysis, clinical, database, functional, tumor histopathology, and mRNA splicing. ENIGMA provides a mechanism to pool resources, exchange methods and data, and coordinately develop and apply algorithms for classification of variants in <italic>BRCA1</italic> and <italic>BRCA2</italic>. It is envisaged that the research and clinical application of models developed by ENIGMA will be relevant to the interpretation of sequence variants in other disease genes.</p></div></front></TEI><pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21990146</article-id><article-id pub-id-type="pmc">3240687</article-id><article-id pub-id-type="doi">10.1002/humu.21628</article-id><article-id pub-id-type="manuscript">NIHMS329709</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>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: An international initiative to evaluate risk and clinical significance associated with sequence variation in <italic>BRCA1</italic> and <italic>BRCA2</italic> genes</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Spurdle</surname><given-names>Amanda B</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Healey</surname><given-names>Sue</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Devereau</surname><given-names>Andrew</given-names></name><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Hogervorst</surname><given-names>Frans BL</given-names></name><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Monteiro</surname><given-names>Alvaro NA</given-names></name><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Katherine L</given-names></name><xref rid="A5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Radice</surname><given-names>Paolo</given-names></name><xref rid="A6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname><given-names>Dominique</given-names></name><xref rid="A7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Tavtigian</surname><given-names>Sean</given-names></name><xref rid="A8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Wappenschmidt</surname><given-names>Barbara</given-names></name><xref rid="A9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J</given-names></name><xref rid="A10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E</given-names></name><xref rid="A11" ref-type="aff">11</xref></contrib><on-behalf-of>on behalf of ENIGMA</on-behalf-of><xref rid="FN2" ref-type="author-notes">12</xref></contrib-group><aff id="A1"><label>1</label>Queensland Institute of Medical Research, Brisbane, Australia</aff><aff id="A2"><label>2</label>NGRL Manchester, Genetic Medicine, St Mary’s Hospital, Manchester, UK</aff><aff id="A3"><label>3</label>Netherlands Cancer Institute, Amsterdam, the Netherlands</aff><aff id="A4"><label>4</label>Cancer Epidemiology Program, Population Sciences Division, Moffitt Cancer Center, Tampa FL, USA</aff><aff id="A5"><label>5</label>Dept of Medicine, Abramson Cancer Center, University of Pennsylvania, Philadelphia PA, USA</aff><aff id="A6"><label>6</label>Fondazione IRCCS, Istituto Nazionale Tumori and IFOM, FIRC Institute of Molecular Oncology, Milan, Italy</aff><aff id="A7"><label>7</label>Institut Curie, INSERM U830, and University Paris Descartes, Paris, France</aff><aff id="A8"><label>8</label>Huntsman Cancer Institute and Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA</aff><aff id="A9"><label>9</label>Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</aff><aff id="A10"><label>10</label>Mayo Clinic College of Medicine, Rochester, Minnesota, USA</aff><aff id="A11"><label>11</label>Department of Dermatology, University of Utah, Salt Lake City, Utah, USA</aff><author-notes><corresp id="FN1">Correspondence to: David E. Goldgar, Ph.D., Department of Dermatology, 4A330 SOM, University of Utah School of Medicine, 30 N.1900 E.,Salt Lake City, Utah 84132, <email>david.goldgar@hsc.utah.edu</email></corresp><fn id="FN2"><label>12</label><p>The membership of ENIGMA is listed in <xref rid="SD1" ref-type="supplementary-material">Supp. Table S1</xref>.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>10</day><month>11</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>3</day><month>11</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>1</month><year>2013</year></pub-date><volume>33</volume><issue>1</issue><fpage>2</fpage><lpage>7</lpage><abstract><p id="P1">As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need for clear interpretation of the test results is apparent. However, for many disease genes, including the breast cancer susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2</italic>, a significant fraction of tests result in the detection of a genetic variant for which disease association is not known. The finding of an ‘unclassified’ variant (UV)/variant of uncertain significance (VUS) complicates genetic test reporting and counseling. As these variants are individually rare, a large collaboration of researchers and clinicians will facilitate studies to assess their association with cancer predisposition. It was with this in mind that the ENIGMA consortium (<ext-link ext-link-type="uri" xlink:href="www.enigmaconsortium.org">www.enigmaconsortium.org</ext-link>) was initiated in 2009. The membership is both international and interdisciplinary, and currently includes more than 100 research scientists and clinicians from 19 countries. Within ENIGMA there are presently six working groups focused on the following topics: analysis, clinical, database, functional, tumor histopathology, and mRNA splicing. ENIGMA provides a mechanism to pool resources, exchange methods and data, and coordinately develop and apply algorithms for classification of variants in <italic>BRCA1</italic> and <italic>BRCA2</italic>. It is envisaged that the research and clinical application of models developed by ENIGMA will be relevant to the interpretation of sequence variants in other disease genes.</p></abstract><kwd-group><kwd>Unclassified Variant</kwd><kwd>Consortium</kwd><kwd>BRCA1/BRCA2</kwd><kwd>International Collaboration</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source><award-id>R01 CA116167-04 || CA</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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