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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Inherited variation at <italic>MC1R</italic> and <italic>ASIP</italic> and association with melanoma-specific survival</title><author><name sortKey="Taylor, Nicholas J" sort="Taylor, Nicholas J" uniqKey="Taylor N" first="Nicholas J." last="Taylor">Nicholas J. Taylor</name><affiliation><nlm:aff id="A1">Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL USA</nlm:aff></affiliation></author><author><name sortKey="Reiner, Anne S" sort="Reiner, Anne S" uniqKey="Reiner A" first="Anne S." last="Reiner">Anne S. Reiner</name><affiliation><nlm:aff id="A2">Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Begg, Colin B" sort="Begg, Colin B" uniqKey="Begg C" first="Colin B." last="Begg">Colin B. Begg</name><affiliation><nlm:aff id="A2">Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E." last="Cust">Anne E. Cust</name><affiliation><nlm:aff id="A3">Cancer Epidemiology and Services Research, Sydney School of Public Health, University of Sydney, Sydney, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Busam, Klaus J" sort="Busam, Klaus J" uniqKey="Busam K" first="Klaus J" last="Busam">Klaus J. Busam</name><affiliation><nlm:aff id="A4">Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation><nlm:aff id="A5">Department of Epidemiology, University of California, Irvine, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Dwyer, Terence" sort="Dwyer, Terence" uniqKey="Dwyer T" first="Terence" last="Dwyer">Terence Dwyer</name><affiliation><nlm:aff id="A6">International Agency for Cancer Research, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="From, Lynn" sort="From, Lynn" uniqKey="From L" first="Lynn" last="From">Lynn From</name><affiliation><nlm:aff id="A7">Women’s College Hospital, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Gallagher, Richard P" sort="Gallagher, Richard P" uniqKey="Gallagher R" first="Richard P" last="Gallagher">Richard P. Gallagher</name><affiliation><nlm:aff id="A8">British Columbia Cancer Agency, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Gruber, Stephen B" sort="Gruber, Stephen B" uniqKey="Gruber S" first="Stephen B." last="Gruber">Stephen B. Gruber</name><affiliation><nlm:aff id="A9">Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Rosso, Stefano" sort="Rosso, Stefano" uniqKey="Rosso S" first="Stefano" last="Rosso">Stefano Rosso</name><affiliation><nlm:aff id="A10">Piedmont Tumor Registry, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="White, Kirsten A" sort="White, Kirsten A" uniqKey="White K" first="Kirsten A." last="White">Kirsten A. White</name><affiliation><nlm:aff id="A14">Departments of Internal Medicine, Division of Epidemiology, Biostatistics and Preventive Medicine, MSC 10-5550 University of New Mexico, Albuquerque, NM, USA</nlm:aff></affiliation></author><author><name sortKey="Zanetti, Roberto" sort="Zanetti, Roberto" uniqKey="Zanetti R" first="Roberto" last="Zanetti">Roberto Zanetti</name><affiliation><nlm:aff id="A10">Piedmont Tumor Registry, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Orlow, Irene" sort="Orlow, Irene" uniqKey="Orlow I" first="Irene" last="Orlow">Irene Orlow</name><affiliation><nlm:aff id="A2">Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Thomas, Nancy E" sort="Thomas, Nancy E" uniqKey="Thomas N" first="Nancy E." last="Thomas">Nancy E. Thomas</name><affiliation><nlm:aff id="A11">Department of Dermatology, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name><affiliation><nlm:aff id="A12">Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Berwick, Marianne" sort="Berwick, Marianne" uniqKey="Berwick M" first="Marianne" last="Berwick">Marianne Berwick</name><affiliation><nlm:aff id="A14">Departments of Internal Medicine, Division of Epidemiology, Biostatistics and Preventive Medicine, MSC 10-5550 University of New Mexico, Albuquerque, NM, USA</nlm:aff></affiliation></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A." last="Kanetsky">Peter A. Kanetsky</name><affiliation><nlm:aff id="A1">Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25382380</idno><idno type="pmc">4361274</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361274</idno><idno type="RBID">PMC:4361274</idno><idno type="doi">10.1002/ijc.29317</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001C54</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001C54</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Inherited variation at <italic>MC1R</italic> and <italic>ASIP</italic> and association with melanoma-specific survival</title><author><name sortKey="Taylor, Nicholas J" sort="Taylor, Nicholas J" uniqKey="Taylor N" first="Nicholas J." last="Taylor">Nicholas J. Taylor</name><affiliation><nlm:aff id="A1">Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL USA</nlm:aff></affiliation></author><author><name sortKey="Reiner, Anne S" sort="Reiner, Anne S" uniqKey="Reiner A" first="Anne S." last="Reiner">Anne S. Reiner</name><affiliation><nlm:aff id="A2">Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Begg, Colin B" sort="Begg, Colin B" uniqKey="Begg C" first="Colin B." last="Begg">Colin B. Begg</name><affiliation><nlm:aff id="A2">Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E." last="Cust">Anne E. Cust</name><affiliation><nlm:aff id="A3">Cancer Epidemiology and Services Research, Sydney School of Public Health, University of Sydney, Sydney, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Busam, Klaus J" sort="Busam, Klaus J" uniqKey="Busam K" first="Klaus J" last="Busam">Klaus J. Busam</name><affiliation><nlm:aff id="A4">Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation><nlm:aff id="A5">Department of Epidemiology, University of California, Irvine, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Dwyer, Terence" sort="Dwyer, Terence" uniqKey="Dwyer T" first="Terence" last="Dwyer">Terence Dwyer</name><affiliation><nlm:aff id="A6">International Agency for Cancer Research, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="From, Lynn" sort="From, Lynn" uniqKey="From L" first="Lynn" last="From">Lynn From</name><affiliation><nlm:aff id="A7">Women’s College Hospital, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Gallagher, Richard P" sort="Gallagher, Richard P" uniqKey="Gallagher R" first="Richard P" last="Gallagher">Richard P. Gallagher</name><affiliation><nlm:aff id="A8">British Columbia Cancer Agency, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Gruber, Stephen B" sort="Gruber, Stephen B" uniqKey="Gruber S" first="Stephen B." last="Gruber">Stephen B. Gruber</name><affiliation><nlm:aff id="A9">Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Rosso, Stefano" sort="Rosso, Stefano" uniqKey="Rosso S" first="Stefano" last="Rosso">Stefano Rosso</name><affiliation><nlm:aff id="A10">Piedmont Tumor Registry, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="White, Kirsten A" sort="White, Kirsten A" uniqKey="White K" first="Kirsten A." last="White">Kirsten A. White</name><affiliation><nlm:aff id="A14">Departments of Internal Medicine, Division of Epidemiology, Biostatistics and Preventive Medicine, MSC 10-5550 University of New Mexico, Albuquerque, NM, USA</nlm:aff></affiliation></author><author><name sortKey="Zanetti, Roberto" sort="Zanetti, Roberto" uniqKey="Zanetti R" first="Roberto" last="Zanetti">Roberto Zanetti</name><affiliation><nlm:aff id="A10">Piedmont Tumor Registry, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Orlow, Irene" sort="Orlow, Irene" uniqKey="Orlow I" first="Irene" last="Orlow">Irene Orlow</name><affiliation><nlm:aff id="A2">Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Thomas, Nancy E" sort="Thomas, Nancy E" uniqKey="Thomas N" first="Nancy E." last="Thomas">Nancy E. Thomas</name><affiliation><nlm:aff id="A11">Department of Dermatology, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name><affiliation><nlm:aff id="A12">Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Berwick, Marianne" sort="Berwick, Marianne" uniqKey="Berwick M" first="Marianne" last="Berwick">Marianne Berwick</name><affiliation><nlm:aff id="A14">Departments of Internal Medicine, Division of Epidemiology, Biostatistics and Preventive Medicine, MSC 10-5550 University of New Mexico, Albuquerque, NM, USA</nlm:aff></affiliation></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A." last="Kanetsky">Peter A. Kanetsky</name><affiliation><nlm:aff id="A1">Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL USA</nlm:aff></affiliation></author></analytic><series><title level="j">International journal of cancer. Journal international du cancer</title><idno type="ISSN">0020-7136</idno><idno type="eISSN">1097-0215</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1"><italic>MC1R</italic> is a marker of melanoma risk in populations of European ancestry. However, <italic>MC1R</italic> effects on survival are much less studied. We investigated associations between variation at <italic>MC1R</italic> and survival in an international, population-based series of single primary melanoma patients enrolled into the GEM study. <italic>MC1R</italic> genotype data was available for 2,200 participants with a first incident primary melanoma diagnosis. We estimated the association of <italic>MC1R</italic> genotypes with melanoma-specific survival (<italic>i.e.</italic> death due to melanoma) and overall survival using Cox proportional hazards modeling, adjusting for established prognostic factors for melanoma. We also conducted stratified analyses by Breslow thickness, tumor site, phenotypic index and age. Additionally, we evaluated haplotypes involving polymorphisms near the <italic>ASIP</italic> locus for their impacts on survival. Melanoma-specific survival was inversely associated with carriage of <italic>MC1R</italic> variants in the absence of consensus alleles compared to carriage of at least one consensus allele (HR=0.60; 95%CI: 0.40, 0.90). <italic>MC1R</italic> results for overall survival were consistent with no association. We did not observe any statistical evidence of heterogeneity of effect estimates in stratified analyses. We observed increased hazard of melanoma-specific death among carriers of the risk haplotype TG near the <italic>ASIP</italic> locus (HR=1.37; 95%CI: 0.91, 2.04) when compared to carriers of the most common GG haplotype. Similar results were noted for overall survival. Upon examining the <italic>ASIP</italic> TG/TG diplotype, we observed considerably increased hazard of melanoma-specific death (HR=5.11; 95%CI: 1.88, 13.88) compared to carriers of the most common GG/GG diplotype. Our data suggest improved melanoma-specific survival among carriers of two inherited <italic>MC1R</italic> variants.</p></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">0042124</journal-id><journal-id journal-id-type="pubmed-jr-id">4284</journal-id><journal-id journal-id-type="nlm-ta">Int J Cancer</journal-id><journal-id journal-id-type="iso-abbrev">Int. J. Cancer</journal-id><journal-title-group><journal-title>International journal of cancer. Journal international du cancer</journal-title></journal-title-group><issn pub-type="ppub">0020-7136</issn><issn pub-type="epub">1097-0215</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25382380</article-id><article-id pub-id-type="pmc">4361274</article-id><article-id pub-id-type="doi">10.1002/ijc.29317</article-id><article-id pub-id-type="manuscript">NIHMS638175</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Inherited variation at <italic>MC1R</italic> and <italic>ASIP</italic> and association with melanoma-specific survival</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Taylor</surname><given-names>Nicholas J.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Reiner</surname><given-names>Anne S.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Begg</surname><given-names>Colin B.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Cust</surname><given-names>Anne E.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Busam</surname><given-names>Klaus J</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Anton-Culver</surname><given-names>Hoda</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Dwyer</surname><given-names>Terence</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>From</surname><given-names>Lynn</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Gallagher</surname><given-names>Richard P</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Gruber</surname><given-names>Stephen B.</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Rosso</surname><given-names>Stefano</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>White</surname><given-names>Kirsten A.</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Zanetti</surname><given-names>Roberto</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Orlow</surname><given-names>Irene</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Thomas</surname><given-names>Nancy E.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Rebbeck</surname><given-names>Timothy R.</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Berwick</surname><given-names>Marianne</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Kanetsky</surname><given-names>Peter A.</given-names></name><xref ref-type="aff" rid="A1">1</xref><on-behalf-of>on behalf of the GEM Study Group</on-behalf-of></contrib></contrib-group><aff id="A1"><label>1</label>Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL USA</aff><aff id="A2"><label>2</label>Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff><aff id="A3"><label>3</label>Cancer Epidemiology and Services Research, Sydney School of Public Health, University of Sydney, Sydney, NSW, Australia</aff><aff id="A4"><label>4</label>Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff><aff id="A5"><label>5</label>Department of Epidemiology, University of California, Irvine, CA, USA</aff><aff id="A6"><label>6</label>International Agency for Cancer Research, Lyon, France</aff><aff id="A7"><label>7</label>Women’s College Hospital, Toronto, ON, Canada</aff><aff id="A8"><label>8</label>British Columbia Cancer Agency, Vancouver, BC, Canada</aff><aff id="A9"><label>9</label>Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA</aff><aff id="A10"><label>10</label>Piedmont Tumor Registry, Turin, Italy</aff><aff id="A11"><label>11</label>Department of Dermatology, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA</aff><aff id="A12"><label>12</label>Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="A13"><label>13</label>Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="A14"><label>14</label>Departments of Internal Medicine, Division of Epidemiology, Biostatistics and Preventive Medicine, MSC 10-5550 University of New Mexico, Albuquerque, NM, USA</aff><author-notes><corresp id="cor1">Address for correspondence and reprints: Dr. Peter A. Kanetsky, Moffitt Cancer Center, 12902 Magnolia Dr., MRC Bldg. #213, Tampa, FL 33612. Tel. 813-745-3988, <email>peter.kanetsky@moffitt.org</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>28</day><month>10</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>26</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="ppub"><day>1</day><month>6</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>6</month><year>2015</year></pub-date><volume>136</volume><issue>11</issue><fpage>2659</fpage><lpage>2667</lpage><pmc-comment>elocation-id from pubmed: 10.1002/ijc.29317</pmc-comment>
<abstract><p id="P1"><italic>MC1R</italic> is a marker of melanoma risk in populations of European ancestry. However, <italic>MC1R</italic> effects on survival are much less studied. We investigated associations between variation at <italic>MC1R</italic> and survival in an international, population-based series of single primary melanoma patients enrolled into the GEM study. <italic>MC1R</italic> genotype data was available for 2,200 participants with a first incident primary melanoma diagnosis. We estimated the association of <italic>MC1R</italic> genotypes with melanoma-specific survival (<italic>i.e.</italic> death due to melanoma) and overall survival using Cox proportional hazards modeling, adjusting for established prognostic factors for melanoma. We also conducted stratified analyses by Breslow thickness, tumor site, phenotypic index and age. Additionally, we evaluated haplotypes involving polymorphisms near the <italic>ASIP</italic> locus for their impacts on survival. Melanoma-specific survival was inversely associated with carriage of <italic>MC1R</italic> variants in the absence of consensus alleles compared to carriage of at least one consensus allele (HR=0.60; 95%CI: 0.40, 0.90). <italic>MC1R</italic> results for overall survival were consistent with no association. We did not observe any statistical evidence of heterogeneity of effect estimates in stratified analyses. We observed increased hazard of melanoma-specific death among carriers of the risk haplotype TG near the <italic>ASIP</italic> locus (HR=1.37; 95%CI: 0.91, 2.04) when compared to carriers of the most common GG haplotype. Similar results were noted for overall survival. Upon examining the <italic>ASIP</italic> TG/TG diplotype, we observed considerably increased hazard of melanoma-specific death (HR=5.11; 95%CI: 1.88, 13.88) compared to carriers of the most common GG/GG diplotype. Our data suggest improved melanoma-specific survival among carriers of two inherited <italic>MC1R</italic> variants.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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