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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment</title><author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><affiliation><nlm:aff id="A1">University of Pittsburgh School of Medicine, Department of Pediatrics</nlm:aff></affiliation><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Baty, Catherine J" sort="Baty, Catherine J" uniqKey="Baty C" first="Catherine J." last="Baty">Catherine J. Baty</name><affiliation><nlm:aff id="A2">University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</nlm:aff></affiliation></author><author><name sortKey="Knickelbein, Kelly Z" sort="Knickelbein, Kelly Z" uniqKey="Knickelbein K" first="Kelly Z." last="Knickelbein">Kelly Z. Knickelbein</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Perschke, Shelley" sort="Perschke, Shelley" uniqKey="Perschke S" first="Shelley" last="Perschke">Shelley Perschke</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Noon, Sarah E" sort="Noon, Sarah E" uniqKey="Noon S" first="Sarah E." last="Noon">Sarah E. Noon</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Campbell, Diana" sort="Campbell, Diana" uniqKey="Campbell D" first="Diana" last="Campbell">Diana Campbell</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Karlsson, Jenny M" sort="Karlsson, Jenny M" uniqKey="Karlsson J" first="Jenny M." last="Karlsson">Jenny M. Karlsson</name><affiliation><nlm:aff id="A2">University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</nlm:aff></affiliation></author><author><name sortKey="Huang, Diana" sort="Huang, Diana" uniqKey="Huang D" first="Diana" last="Huang">Diana Huang</name><affiliation><nlm:aff id="A2">University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</nlm:aff></affiliation></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A." last="Kimak">Mark A. Kimak</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C." last="Lawrence">Elizabeth C. Lawrence</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Meriney, Stephen D" sort="Meriney, Stephen D" uniqKey="Meriney S" first="Stephen D." last="Meriney">Stephen D. Meriney</name><affiliation><nlm:aff id="A4">University of Pittsburgh Department of Neuroscience</nlm:aff></affiliation></author><author><name sortKey="Brufsky, Adam M" sort="Brufsky, Adam M" uniqKey="Brufsky A" first="Adam M." last="Brufsky">Adam M. Brufsky</name><affiliation><nlm:aff id="A5">University of Pittsburgh School of Medicine, Department of Medicine</nlm:aff></affiliation></author><author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22351697</idno><idno type="pmc">3625665</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625665</idno><idno type="RBID">PMC:3625665</idno><idno type="doi">10.1158/1078-0432.CCR-11-2303</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">003A21</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003A21</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment</title><author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><affiliation><nlm:aff id="A1">University of Pittsburgh School of Medicine, Department of Pediatrics</nlm:aff></affiliation><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Baty, Catherine J" sort="Baty, Catherine J" uniqKey="Baty C" first="Catherine J." last="Baty">Catherine J. Baty</name><affiliation><nlm:aff id="A2">University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</nlm:aff></affiliation></author><author><name sortKey="Knickelbein, Kelly Z" sort="Knickelbein, Kelly Z" uniqKey="Knickelbein K" first="Kelly Z." last="Knickelbein">Kelly Z. Knickelbein</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Perschke, Shelley" sort="Perschke, Shelley" uniqKey="Perschke S" first="Shelley" last="Perschke">Shelley Perschke</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Noon, Sarah E" sort="Noon, Sarah E" uniqKey="Noon S" first="Sarah E." last="Noon">Sarah E. Noon</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Campbell, Diana" sort="Campbell, Diana" uniqKey="Campbell D" first="Diana" last="Campbell">Diana Campbell</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Karlsson, Jenny M" sort="Karlsson, Jenny M" uniqKey="Karlsson J" first="Jenny M." last="Karlsson">Jenny M. Karlsson</name><affiliation><nlm:aff id="A2">University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</nlm:aff></affiliation></author><author><name sortKey="Huang, Diana" sort="Huang, Diana" uniqKey="Huang D" first="Diana" last="Huang">Diana Huang</name><affiliation><nlm:aff id="A2">University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</nlm:aff></affiliation></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A." last="Kimak">Mark A. Kimak</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C." last="Lawrence">Elizabeth C. Lawrence</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author><author><name sortKey="Meriney, Stephen D" sort="Meriney, Stephen D" uniqKey="Meriney S" first="Stephen D." last="Meriney">Stephen D. Meriney</name><affiliation><nlm:aff id="A4">University of Pittsburgh Department of Neuroscience</nlm:aff></affiliation></author><author><name sortKey="Brufsky, Adam M" sort="Brufsky, Adam M" uniqKey="Brufsky A" first="Adam M." last="Brufsky">Adam M. Brufsky</name><affiliation><nlm:aff id="A5">University of Pittsburgh School of Medicine, Department of Medicine</nlm:aff></affiliation></author><author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name><affiliation><nlm:aff id="A3">University of Pittsburgh Graduate School of Public Health Department of Human Genetics</nlm:aff></affiliation></author></analytic><series><title level="j">Clinical cancer research : an official journal of the American Association for Cancer Research</title><idno type="ISSN">1078-0432</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose</title><p id="P2">Secondary lymphedema is a frequent complication of breast cancer associated with surgery, chemotherapy, or radiation following breast cancer treatment. The potential contribution of genetic susceptibility to risk of developing secondary lymphedema following surgical trauma, radiation, and other tissue insults has not been studied.</p></sec><sec id="S2"><title>Experimental Design</title><p id="P3">To determine if women with breast cancer and secondary lymphedema had mutations in candidate lymphedema genes, we undertook a case - control study of 188 women diagnosed with breast cancer recruited from the University of Pittsburgh Breast Cancer Program (<ext-link ext-link-type="uri" xlink:href="http://www.upmccancercenter.com/breast/index.cfm">http://www.upmccancercenter.com/breast/index.cfm</ext-link>) between 2000–2010.</p><p id="P4">Candidate lymphedema genes, <italic>GJC2</italic> (encoding connexin 47 [Cx47]), <italic>FOXC2</italic>, <italic>HGF</italic>, <italic>MET</italic>, and <italic>FLT4</italic> (encoding VEGFR3), were sequenced for mutation. Bioinformatics analysis and in vitro functional assays were used to confirm significance of novel mutations.</p></sec><sec id="S3"><title>Results</title><p id="P5">Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment but not in breast cancer controls or normal women without breast cancer. These novel mutations are dysfunctional as assessed through in vitro assays and bioinformatics analysis, and provide evidence that altered gap junction function leads to lymphedema.</p></sec><sec id="S4"><title>Conclusions</title><p id="P6">Our findings challenge the view that secondary lymphedema is solely due to mechanical trauma and support the hypothesis that genetic susceptibility is an important risk factor for secondary lymphedema. A priori recognition of genetic risk 1) raises the potential for early detection and intervention for a high risk group, and 2) allows the possibility of altering surgical approach and/or chemo- and radiation therapy, or direct medical treatment of secondary lymphedema with novel connexin modifying drugs.</p></sec><sec id="S5"><title>Translational Relevance</title><p id="P7">Secondary lymphedema is a frequent and serious chronic complication of breast cancer treatment. Our finding of four independent mutations in Cx47, including one shared mutation previously reported in primary lymphedema, not only supports these mutations as a genetic risk to the development of secondary lymphedema but raises the likelihood that other genes may contribute to such a genetic risk to secondary lymphedema as well.</p></sec></div></front></TEI><pmc article-type="research-article"><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">9502500</journal-id><journal-id journal-id-type="pubmed-jr-id">8794</journal-id><journal-id journal-id-type="nlm-ta">Clin Cancer Res</journal-id><journal-id journal-id-type="iso-abbrev">Clin. Cancer Res.</journal-id><journal-title-group><journal-title>Clinical cancer research : an official journal of the American Association for Cancer Research</journal-title></journal-title-group><issn pub-type="ppub">1078-0432</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22351697</article-id><article-id pub-id-type="pmc">3625665</article-id><article-id pub-id-type="doi">10.1158/1078-0432.CCR-11-2303</article-id><article-id pub-id-type="manuscript">NIHMS454098</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Finegold</surname><given-names>David N.</given-names></name><xref ref-type="author-notes" rid="FN1">*</xref><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Baty</surname><given-names>Catherine J.</given-names></name><xref ref-type="author-notes" rid="FN1">*</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Knickelbein</surname><given-names>Kelly Z.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Perschke</surname><given-names>Shelley</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Noon</surname><given-names>Sarah E.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Karlsson</surname><given-names>Jenny M.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Huang</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Kimak</surname><given-names>Mark A.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lawrence</surname><given-names>Elizabeth C.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Feingold</surname><given-names>Eleanor</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Meriney</surname><given-names>Stephen D.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Brufsky</surname><given-names>Adam M.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Ferrell</surname><given-names>Robert E.</given-names></name><xref ref-type="author-notes" rid="FN1">*</xref><xref ref-type="aff" rid="A3">3</xref></contrib></contrib-group><aff id="A1"><label>1</label>University of Pittsburgh School of Medicine, Department of Pediatrics</aff><aff id="A2"><label>2</label>University of Pittsburgh School of Medicine Department of Cell Biology & Physiology</aff><aff id="A3"><label>3</label>University of Pittsburgh Graduate School of Public Health Department of Human Genetics</aff><aff id="A4"><label>4</label>University of Pittsburgh Department of Neuroscience</aff><aff id="A5"><label>5</label>University of Pittsburgh School of Medicine, Department of Medicine</aff><author-notes><corresp id="cor1">Corresponding author: David Finegold, A-306 Crabtree, GSPH, University of Pittsburgh, Pittsburgh, PA, 15261, 412-624-78454, fax 412-624-3020, <email>dnf@pitt.edu</email></corresp><fn id="FN1" fn-type="equal"><label>*</label><p id="P1">These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>19</day><month>3</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>20</day><month>2</month><year>2012</year></pub-date><pub-date pub-type="ppub"><day>15</day><month>4</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>4</month><year>2013</year></pub-date><volume>18</volume><issue>8</issue><fpage>2382</fpage><lpage>2390</lpage><abstract><sec id="S1"><title>Purpose</title><p id="P2">Secondary lymphedema is a frequent complication of breast cancer associated with surgery, chemotherapy, or radiation following breast cancer treatment. The potential contribution of genetic susceptibility to risk of developing secondary lymphedema following surgical trauma, radiation, and other tissue insults has not been studied.</p></sec><sec id="S2"><title>Experimental Design</title><p id="P3">To determine if women with breast cancer and secondary lymphedema had mutations in candidate lymphedema genes, we undertook a case - control study of 188 women diagnosed with breast cancer recruited from the University of Pittsburgh Breast Cancer Program (<ext-link ext-link-type="uri" xlink:href="http://www.upmccancercenter.com/breast/index.cfm">http://www.upmccancercenter.com/breast/index.cfm</ext-link>) between 2000–2010.</p><p id="P4">Candidate lymphedema genes, <italic>GJC2</italic> (encoding connexin 47 [Cx47]), <italic>FOXC2</italic>, <italic>HGF</italic>, <italic>MET</italic>, and <italic>FLT4</italic> (encoding VEGFR3), were sequenced for mutation. Bioinformatics analysis and in vitro functional assays were used to confirm significance of novel mutations.</p></sec><sec id="S3"><title>Results</title><p id="P5">Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment but not in breast cancer controls or normal women without breast cancer. These novel mutations are dysfunctional as assessed through in vitro assays and bioinformatics analysis, and provide evidence that altered gap junction function leads to lymphedema.</p></sec><sec id="S4"><title>Conclusions</title><p id="P6">Our findings challenge the view that secondary lymphedema is solely due to mechanical trauma and support the hypothesis that genetic susceptibility is an important risk factor for secondary lymphedema. A priori recognition of genetic risk 1) raises the potential for early detection and intervention for a high risk group, and 2) allows the possibility of altering surgical approach and/or chemo- and radiation therapy, or direct medical treatment of secondary lymphedema with novel connexin modifying drugs.</p></sec><sec id="S5"><title>Translational Relevance</title><p id="P7">Secondary lymphedema is a frequent and serious chronic complication of breast cancer treatment. Our finding of four independent mutations in Cx47, including one shared mutation previously reported in primary lymphedema, not only supports these mutations as a genetic risk to the development of secondary lymphedema but raises the likelihood that other genes may contribute to such a genetic risk to secondary lymphedema as well.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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