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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rare Mutations in <italic>XRCC2</italic> Increase the Risk of Breast Cancer</title><author><name sortKey="Park, D J" sort="Park, D J" uniqKey="Park D" first="D. J." last="Park">D. J. Park</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Lesueur, F" sort="Lesueur, F" uniqKey="Lesueur F" first="F." last="Lesueur">F. Lesueur</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Nguyen Dumont, T" sort="Nguyen Dumont, T" uniqKey="Nguyen Dumont T" first="T." last="Nguyen-Dumont">T. Nguyen-Dumont</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Pertesi, M" sort="Pertesi, M" uniqKey="Pertesi M" first="M." last="Pertesi">M. Pertesi</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Odefrey, F" sort="Odefrey, F" uniqKey="Odefrey F" first="F." last="Odefrey">F. Odefrey</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Hammet, F" sort="Hammet, F" uniqKey="Hammet F" first="F." last="Hammet">F. Hammet</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Neuhausen, S L" sort="Neuhausen, S L" uniqKey="Neuhausen S" first="S. L." last="Neuhausen">S. L. Neuhausen</name><affiliation><nlm:aff id="aff3">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA 91010, USA</nlm:aff></affiliation></author><author><name sortKey="John, E M" sort="John, E M" uniqKey="John E" first="E. M." last="John">E. M. John</name><affiliation><nlm:aff id="aff4">Cancer Prevention Institute of California, Fremont, CA 94538, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Health Research and Policy, Stanford Cancer Center Institute, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Andrulis, I L" sort="Andrulis, I L" uniqKey="Andrulis I" first="I. L." last="Andrulis">I. L. Andrulis</name><affiliation><nlm:aff id="aff6">Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff></affiliation></author><author><name sortKey="Terry, M B" sort="Terry, M B" uniqKey="Terry M" first="M. B." last="Terry">M. B. Terry</name><affiliation><nlm:aff id="aff7">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Daly, M" sort="Daly, M" uniqKey="Daly M" first="M." last="Daly">M. Daly</name><affiliation><nlm:aff id="aff8">Fox Chase Cancer Center, Philadelphia, PA 19111, USA</nlm:aff></affiliation></author><author><name sortKey="Buys, S" sort="Buys, S" uniqKey="Buys S" first="S." last="Buys">S. Buys</name><affiliation><nlm:aff id="aff9">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, F" sort="Le Calvez Kelm, F" uniqKey="Le Calvez Kelm F" first="F." last="Le Calvez-Kelm">F. Le Calvez-Kelm</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lonie, A" sort="Lonie, A" uniqKey="Lonie A" first="A." last="Lonie">A. Lonie</name><affiliation><nlm:aff id="aff10">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Pope, B J" sort="Pope, B J" uniqKey="Pope B" first="B. J." last="Pope">B. J. Pope</name><affiliation><nlm:aff id="aff10">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, H" sort="Tsimiklis, H" uniqKey="Tsimiklis H" first="H." last="Tsimiklis">H. Tsimiklis</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Voegele, C" sort="Voegele, C" uniqKey="Voegele C" first="C." last="Voegele">C. Voegele</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Hilbers, F M" sort="Hilbers, F M" uniqKey="Hilbers F" first="F. M." last="Hilbers">F. M. Hilbers</name><affiliation><nlm:aff id="aff11">Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hoogerbrugge, N" sort="Hoogerbrugge, N" uniqKey="Hoogerbrugge N" first="N." last="Hoogerbrugge">N. Hoogerbrugge</name><affiliation><nlm:aff id="aff12">Department of Human Genetics, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Barroso, A" sort="Barroso, A" uniqKey="Barroso A" first="A." last="Barroso">A. Barroso</name><affiliation><nlm:aff id="aff13">Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Osorio, A" sort="Osorio, A" uniqKey="Osorio A" first="A." last="Osorio">A. Osorio</name><affiliation><nlm:aff id="aff13">Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Spanish Network on Rare Diseases, 46010 Valencia, Spain</nlm:aff></affiliation></author><author><name sortKey="Giles, G G" sort="Giles, G G" uniqKey="Giles G" first="G. G." last="Giles">G. G. Giles</name><affiliation><nlm:aff id="aff15">Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Devilee, P" sort="Devilee, P" uniqKey="Devilee P" first="P." last="Devilee">P. Devilee</name><affiliation><nlm:aff id="aff11">Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">Department of Pathology, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Benitez, J" sort="Benitez, J" uniqKey="Benitez J" first="J." last="Benitez">J. Benitez</name><affiliation><nlm:aff id="aff13">Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Spanish Network on Rare Diseases, 46010 Valencia, Spain</nlm:aff></affiliation></author><author><name sortKey="Hopper, J L" sort="Hopper, J L" uniqKey="Hopper J" first="J. L." last="Hopper">J. L. Hopper</name><affiliation><nlm:aff id="aff17">Centre for Molecular, Environmental, Genetic, and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, S V" sort="Tavtigian, S V" uniqKey="Tavtigian S" first="S. V." last="Tavtigian">S. V. Tavtigian</name><affiliation><nlm:aff id="aff18">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, D E" sort="Goldgar, D E" uniqKey="Goldgar D" first="D. E." last="Goldgar">D. E. Goldgar</name><affiliation><nlm:aff id="aff19">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA</nlm:aff></affiliation></author><author><name sortKey="Southey, M C" sort="Southey, M C" uniqKey="Southey M" first="M. C." last="Southey">M. C. Southey</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22464251</idno><idno type="pmc">3322233</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322233</idno><idno type="RBID">PMC:3322233</idno><idno type="doi">10.1016/j.ajhg.2012.02.027</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001196</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001196</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Rare Mutations in <italic>XRCC2</italic> Increase the Risk of Breast Cancer</title><author><name sortKey="Park, D J" sort="Park, D J" uniqKey="Park D" first="D. J." last="Park">D. J. Park</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Lesueur, F" sort="Lesueur, F" uniqKey="Lesueur F" first="F." last="Lesueur">F. Lesueur</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Nguyen Dumont, T" sort="Nguyen Dumont, T" uniqKey="Nguyen Dumont T" first="T." last="Nguyen-Dumont">T. Nguyen-Dumont</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Pertesi, M" sort="Pertesi, M" uniqKey="Pertesi M" first="M." last="Pertesi">M. Pertesi</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Odefrey, F" sort="Odefrey, F" uniqKey="Odefrey F" first="F." last="Odefrey">F. Odefrey</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Hammet, F" sort="Hammet, F" uniqKey="Hammet F" first="F." last="Hammet">F. Hammet</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Neuhausen, S L" sort="Neuhausen, S L" uniqKey="Neuhausen S" first="S. L." last="Neuhausen">S. L. Neuhausen</name><affiliation><nlm:aff id="aff3">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA 91010, USA</nlm:aff></affiliation></author><author><name sortKey="John, E M" sort="John, E M" uniqKey="John E" first="E. M." last="John">E. M. John</name><affiliation><nlm:aff id="aff4">Cancer Prevention Institute of California, Fremont, CA 94538, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Health Research and Policy, Stanford Cancer Center Institute, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Andrulis, I L" sort="Andrulis, I L" uniqKey="Andrulis I" first="I. L." last="Andrulis">I. L. Andrulis</name><affiliation><nlm:aff id="aff6">Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff></affiliation></author><author><name sortKey="Terry, M B" sort="Terry, M B" uniqKey="Terry M" first="M. B." last="Terry">M. B. Terry</name><affiliation><nlm:aff id="aff7">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Daly, M" sort="Daly, M" uniqKey="Daly M" first="M." last="Daly">M. Daly</name><affiliation><nlm:aff id="aff8">Fox Chase Cancer Center, Philadelphia, PA 19111, USA</nlm:aff></affiliation></author><author><name sortKey="Buys, S" sort="Buys, S" uniqKey="Buys S" first="S." last="Buys">S. Buys</name><affiliation><nlm:aff id="aff9">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, F" sort="Le Calvez Kelm, F" uniqKey="Le Calvez Kelm F" first="F." last="Le Calvez-Kelm">F. Le Calvez-Kelm</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lonie, A" sort="Lonie, A" uniqKey="Lonie A" first="A." last="Lonie">A. Lonie</name><affiliation><nlm:aff id="aff10">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Pope, B J" sort="Pope, B J" uniqKey="Pope B" first="B. J." last="Pope">B. J. Pope</name><affiliation><nlm:aff id="aff10">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, H" sort="Tsimiklis, H" uniqKey="Tsimiklis H" first="H." last="Tsimiklis">H. Tsimiklis</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Voegele, C" sort="Voegele, C" uniqKey="Voegele C" first="C." last="Voegele">C. Voegele</name><affiliation><nlm:aff id="aff2">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Hilbers, F M" sort="Hilbers, F M" uniqKey="Hilbers F" first="F. M." last="Hilbers">F. M. Hilbers</name><affiliation><nlm:aff id="aff11">Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hoogerbrugge, N" sort="Hoogerbrugge, N" uniqKey="Hoogerbrugge N" first="N." last="Hoogerbrugge">N. Hoogerbrugge</name><affiliation><nlm:aff id="aff12">Department of Human Genetics, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Barroso, A" sort="Barroso, A" uniqKey="Barroso A" first="A." last="Barroso">A. Barroso</name><affiliation><nlm:aff id="aff13">Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Osorio, A" sort="Osorio, A" uniqKey="Osorio A" first="A." last="Osorio">A. Osorio</name><affiliation><nlm:aff id="aff13">Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Spanish Network on Rare Diseases, 46010 Valencia, Spain</nlm:aff></affiliation></author><author><name sortKey="Giles, G G" sort="Giles, G G" uniqKey="Giles G" first="G. G." last="Giles">G. G. Giles</name><affiliation><nlm:aff id="aff15">Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Devilee, P" sort="Devilee, P" uniqKey="Devilee P" first="P." last="Devilee">P. Devilee</name><affiliation><nlm:aff id="aff11">Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">Department of Pathology, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Benitez, J" sort="Benitez, J" uniqKey="Benitez J" first="J." last="Benitez">J. Benitez</name><affiliation><nlm:aff id="aff13">Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Spanish Network on Rare Diseases, 46010 Valencia, Spain</nlm:aff></affiliation></author><author><name sortKey="Hopper, J L" sort="Hopper, J L" uniqKey="Hopper J" first="J. L." last="Hopper">J. L. Hopper</name><affiliation><nlm:aff id="aff17">Centre for Molecular, Environmental, Genetic, and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, S V" sort="Tavtigian, S V" uniqKey="Tavtigian S" first="S. V." last="Tavtigian">S. V. Tavtigian</name><affiliation><nlm:aff id="aff18">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, D E" sort="Goldgar, D E" uniqKey="Goldgar D" first="D. E." last="Goldgar">D. E. Goldgar</name><affiliation><nlm:aff id="aff19">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA</nlm:aff></affiliation></author><author><name sortKey="Southey, M C" sort="Southey, M C" uniqKey="Southey M" first="M. C." last="Southey">M. C. Southey</name><affiliation><nlm:aff id="aff1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with <italic>XRCC2</italic> mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p < 0.02). We also performed additional mutation screening in 689 multiple-case families. We identified ten breast-cancer-affected families with protein-truncating or probably deleterious rare missense variants in <italic>XRCC2</italic>. Our identification of <italic>XRCC2</italic> as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors. This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22464251</article-id><article-id pub-id-type="pmc">3322233</article-id><article-id pub-id-type="publisher-id">AJHG1109</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.02.027</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Rare Mutations in <italic>XRCC2</italic> Increase the Risk of Breast Cancer</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Park</surname><given-names>D.J.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">20</xref></contrib><contrib contrib-type="author"><name><surname>Lesueur</surname><given-names>F.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">20</xref></contrib><contrib contrib-type="author"><name><surname>Nguyen-Dumont</surname><given-names>T.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Pertesi</surname><given-names>M.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Odefrey</surname><given-names>F.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Hammet</surname><given-names>F.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>S.L.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>John</surname><given-names>E.M.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Andrulis</surname><given-names>I.L.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Terry</surname><given-names>M.B.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Daly</surname><given-names>M.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Buys</surname><given-names>S.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Le Calvez-Kelm</surname><given-names>F.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Lonie</surname><given-names>A.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Pope</surname><given-names>B.J.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Tsimiklis</surname><given-names>H.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Voegele</surname><given-names>C.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Hilbers</surname><given-names>F.M.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Hoogerbrugge</surname><given-names>N.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Barroso</surname><given-names>A.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Osorio</surname><given-names>A.</given-names></name><xref rid="aff13" ref-type="aff">13</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><collab>the Breast Cancer Family Registry</collab></contrib><contrib contrib-type="author"><collab>the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer</collab></contrib><contrib contrib-type="author"><name><surname>Giles</surname><given-names>G.G.</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>P.</given-names></name><xref rid="aff11" ref-type="aff">11</xref><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Benitez</surname><given-names>J.</given-names></name><xref rid="aff13" ref-type="aff">13</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Hopper</surname><given-names>J.L.</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Tavtigian</surname><given-names>S.V.</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>D.E.</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Southey</surname><given-names>M.C.</given-names></name><email>msouthey@unimelb.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</aff><aff id="aff2"><label>2</label>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</aff><aff id="aff3"><label>3</label>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA 91010, USA</aff><aff id="aff4"><label>4</label>Cancer Prevention Institute of California, Fremont, CA 94538, USA</aff><aff id="aff5"><label>5</label>Department of Health Research and Policy, Stanford Cancer Center Institute, Stanford, CA 94305, USA</aff><aff id="aff6"><label>6</label>Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</aff><aff id="aff7"><label>7</label>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</aff><aff id="aff8"><label>8</label>Fox Chase Cancer Center, Philadelphia, PA 19111, USA</aff><aff id="aff9"><label>9</label>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</aff><aff id="aff10"><label>10</label>Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</aff><aff id="aff11"><label>11</label>Department of Human Genetics, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</aff><aff id="aff12"><label>12</label>Department of Human Genetics, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands</aff><aff id="aff13"><label>13</label>Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center, 28029 Madrid, Spain</aff><aff id="aff14"><label>14</label>Spanish Network on Rare Diseases, 46010 Valencia, Spain</aff><aff id="aff15"><label>15</label>Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3052, Australia</aff><aff id="aff16"><label>16</label>Department of Pathology, Leiden University Medical Center, Leiden, 2300 RC Leiden, The Netherlands</aff><aff id="aff17"><label>17</label>Centre for Molecular, Environmental, Genetic, and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia</aff><aff id="aff18"><label>18</label>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</aff><aff id="aff19"><label>19</label>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>msouthey@unimelb.edu.au</email></corresp><fn id="fn1"><label>20</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>06</day><month>4</month><year>2012</year></pub-date><volume>90</volume><issue>4</issue><fpage>734</fpage><lpage>739</lpage><history><date date-type="received"><day>20</day><month>11</month><year>2011</year></date><date date-type="rev-recd"><day>16</day><month>1</month><year>2012</year></date><date date-type="accepted"><day>29</day><month>2</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with <italic>XRCC2</italic> mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p < 0.02). We also performed additional mutation screening in 689 multiple-case families. We identified ten breast-cancer-affected families with protein-truncating or probably deleterious rare missense variants in <italic>XRCC2</italic>. Our identification of <italic>XRCC2</italic> as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors. This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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