Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Common variants of the <italic>BRCA1</italic> wild-type allele modify the risk of breast cancer in <italic>BRCA1</italic> mutation carriers</title><author><name sortKey="Cox, David G" sort="Cox, David G" uniqKey="Cox D" first="David G." last="Cox">David G. Cox</name><affiliation><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Department of Epidemiology and Biostatistics, School of Public Health</addr-line>,<institution>Imperial College</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name><affiliation><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Sinnett, Daniel" sort="Sinnett, Daniel" uniqKey="Sinnett D" first="Daniel" last="Sinnett">Daniel Sinnett</name><affiliation><nlm:aff id="af4"><addr-line>Division of Hematology-Oncology, Research Center</addr-line>,<institution>Sainte-Justine University Health Center</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af5"><addr-line>Department of Pediatrics, Faculty of Medicine</addr-line>,<institution>University of Montreal</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name><affiliation><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name><affiliation><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Ouimet, Manon" sort="Ouimet, Manon" uniqKey="Ouimet M" first="Manon" last="Ouimet">Manon Ouimet</name><affiliation><nlm:aff id="af4"><addr-line>Division of Hematology-Oncology, Research Center</addr-line>,<institution>Sainte-Justine University Health Center</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name><affiliation><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Verny Pierre, Carole" sort="Verny Pierre, Carole" uniqKey="Verny Pierre C" first="Carole" last="Verny-Pierre">Carole Verny-Pierre</name><affiliation><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="af6"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,<institution>University of Cambridge</institution>,<country>UK</country>,</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="af7"><addr-line>Genetics and Population Health</addr-line>,<institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla" sort="Szabo, Csilla" uniqKey="Szabo C" first="Csilla" last="Szabo">Csilla Szabo</name><affiliation><nlm:aff id="af8"><institution>University of Delaware</institution>,<addr-line>Newark, DE</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H." last="Greene">Mark H. Greene</name><affiliation><nlm:aff id="af9"><addr-line>Clinical Genetics Branch</addr-line>,<institution>US National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="af9"><addr-line>Clinical Genetics Branch</addr-line>,<institution>US National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff wicri:cut=" and" id="af10"><addr-line>Department of Molecular Genetics and Laboratory Medicine and Pathobiology</addr-line>,<institution>University of Toronto</institution></nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Fred A. Litwin Center for Cancer Genetics</addr-line>,<institution>Samuel Lunenfeld Research Institute, Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21890493</idno><idno type="pmc">3733139</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139</idno><idno type="RBID">PMC:3733139</idno><idno type="doi">10.1093/hmg/ddr388</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001865</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001865</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common variants of the <italic>BRCA1</italic> wild-type allele modify the risk of breast cancer in <italic>BRCA1</italic> mutation carriers</title><author><name sortKey="Cox, David G" sort="Cox, David G" uniqKey="Cox D" first="David G." last="Cox">David G. Cox</name><affiliation><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Department of Epidemiology and Biostatistics, School of Public Health</addr-line>,<institution>Imperial College</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name><affiliation><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Sinnett, Daniel" sort="Sinnett, Daniel" uniqKey="Sinnett D" first="Daniel" last="Sinnett">Daniel Sinnett</name><affiliation><nlm:aff id="af4"><addr-line>Division of Hematology-Oncology, Research Center</addr-line>,<institution>Sainte-Justine University Health Center</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af5"><addr-line>Department of Pediatrics, Faculty of Medicine</addr-line>,<institution>University of Montreal</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name><affiliation><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name><affiliation><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Ouimet, Manon" sort="Ouimet, Manon" uniqKey="Ouimet M" first="Manon" last="Ouimet">Manon Ouimet</name><affiliation><nlm:aff id="af4"><addr-line>Division of Hematology-Oncology, Research Center</addr-line>,<institution>Sainte-Justine University Health Center</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name><affiliation><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Verny Pierre, Carole" sort="Verny Pierre, Carole" uniqKey="Verny Pierre C" first="Carole" last="Verny-Pierre">Carole Verny-Pierre</name><affiliation><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="af6"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,<institution>University of Cambridge</institution>,<country>UK</country>,</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="af7"><addr-line>Genetics and Population Health</addr-line>,<institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla" sort="Szabo, Csilla" uniqKey="Szabo C" first="Csilla" last="Szabo">Csilla Szabo</name><affiliation><nlm:aff id="af8"><institution>University of Delaware</institution>,<addr-line>Newark, DE</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H." last="Greene">Mark H. Greene</name><affiliation><nlm:aff id="af9"><addr-line>Clinical Genetics Branch</addr-line>,<institution>US National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="af9"><addr-line>Clinical Genetics Branch</addr-line>,<institution>US National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff wicri:cut=" and" id="af10"><addr-line>Department of Molecular Genetics and Laboratory Medicine and Pathobiology</addr-line>,<institution>University of Toronto</institution></nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Fred A. Litwin Center for Cancer Genetics</addr-line>,<institution>Samuel Lunenfeld Research Institute, Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</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>Mutations in the <italic>BRCA1</italic> gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of <italic>BRCA1</italic> carried on the wild-type (non-mutated) copy of the <italic>BRCA1</italic> gene would modify the risk of breast cancer in carriers of <italic>BRCA1</italic> mutations. A total of 9874 <italic>BRCA1</italic> mutation carriers were available in the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic> (CIMBA) for haplotype analyses of <italic>BRCA1</italic>. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of <italic>BRCA1</italic> were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77–0.95, <italic>P</italic> = 0.003). Promoter <italic>in vitro</italic> assays of the major <italic>BRCA1</italic> haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of <italic>BRCA1</italic> modify risk of breast cancer among carriers of <italic>BRCA1</italic> mutations, possibly by altering the efficiency of <italic>BRCA1</italic> transcription.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Mol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mol. Genet</journal-id><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title-group><journal-title>Human Molecular Genetics</journal-title></journal-title-group><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21890493</article-id><article-id pub-id-type="pmc">3733139</article-id><article-id pub-id-type="doi">10.1093/hmg/ddr388</article-id><article-id pub-id-type="publisher-id">ddr388</article-id><article-categories><subj-group subj-group-type="heading"><subject>Association Studies Articles</subject></subj-group></article-categories><title-group><article-title>Common variants of the <italic>BRCA1</italic> wild-type allele modify the risk of breast cancer in <italic>BRCA1</italic> mutation carriers</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Cox</surname><given-names>David G.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Simard</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Sinnett</surname><given-names>Daniel</given-names></name><xref ref-type="aff" rid="af4">4</xref><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Hamdi</surname><given-names>Yosr</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Soucy</surname><given-names>Penny</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Ouimet</surname><given-names>Manon</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Barjhoux</surname><given-names>Laure</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Verny-Pierre</surname><given-names>Carole</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Healey</surname><given-names>Sue</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Szabo</surname><given-names>Csilla</given-names></name><xref ref-type="aff" rid="af8">8</xref></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Mark H.</given-names></name><xref ref-type="aff" rid="af9">9</xref></contrib><contrib contrib-type="author"><name><surname>Mai</surname><given-names>Phuong L.</given-names></name><xref ref-type="aff" rid="af9">9</xref></contrib><contrib contrib-type="author"><name><surname>Andrulis</surname><given-names>Irene L.</given-names></name><xref ref-type="aff" rid="af10">10</xref><xref ref-type="aff" rid="af11">11</xref></contrib><on-behalf-of>Ontario Cancer Genetics Network</on-behalf-of></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Thomassen</surname><given-names>Mads</given-names></name><xref ref-type="aff" rid="af13">13</xref></contrib><contrib contrib-type="author"><name><surname>Gerdes</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="af14">14</xref></contrib><contrib contrib-type="author"><name><surname>Caligo</surname><given-names>Maria A.</given-names></name><xref ref-type="aff" rid="af16">16</xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Eitan</given-names></name><xref ref-type="aff" rid="af17">17</xref><xref ref-type="aff" rid="af19">19</xref></contrib><contrib contrib-type="author"><name><surname>Laitman</surname><given-names>Yael</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Kaufman</surname><given-names>Bella</given-names></name><xref ref-type="aff" rid="af18">18</xref><xref ref-type="aff" rid="af19">19</xref></contrib><contrib contrib-type="author"><name><surname>Paluch</surname><given-names>Shani S.</given-names></name><xref ref-type="aff" rid="af19">19</xref></contrib><contrib contrib-type="author"><name><surname>Borg</surname><given-names>Åke</given-names></name><xref ref-type="aff" rid="af20">20</xref></contrib><contrib contrib-type="author"><name><surname>Karlsson</surname><given-names>Per</given-names></name><xref ref-type="aff" rid="af21">21</xref></contrib><contrib contrib-type="author"><name><surname>Stenmark Askmalm</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="af22">22</xref></contrib><contrib contrib-type="author"><name><surname>Barbany Bustinza</surname><given-names>Gisela</given-names></name><xref ref-type="aff" rid="af23">23</xref></contrib><on-behalf-of>SWE-BRCA Collaborators</on-behalf-of></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Katherine L.</given-names></name><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><name><surname>Domchek</surname><given-names>Susan M.</given-names></name><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><name><surname>Rebbeck</surname><given-names>Timothy R.</given-names></name><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><name><surname>Benítez</surname><given-names>Javier</given-names></name><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><name><surname>Hamann</surname><given-names>Ute</given-names></name><xref ref-type="aff" rid="af27">27</xref></contrib><contrib contrib-type="author"><name><surname>Rookus</surname><given-names>Matti A.</given-names></name><xref ref-type="aff" rid="af28">28</xref></contrib><contrib contrib-type="author"><name><surname>van den Ouweland</surname><given-names>Ans M.W.</given-names></name><xref ref-type="aff" rid="af29">29</xref></contrib><contrib contrib-type="author"><name><surname>Ausems</surname><given-names>Margreet G.E.M.</given-names></name><xref ref-type="aff" rid="af30">30</xref></contrib><contrib contrib-type="author"><name><surname>Aalfs</surname><given-names>Cora M.</given-names></name><xref ref-type="aff" rid="af31">31</xref></contrib><contrib contrib-type="author"><name><surname>van Asperen</surname><given-names>Christi J.</given-names></name><xref ref-type="aff" rid="af32">32</xref></contrib><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="af33">33</xref></contrib><contrib contrib-type="author"><name><surname>Gille</surname><given-names>Hans J.J.P.</given-names></name><xref ref-type="aff" rid="af34">34</xref></contrib><contrib contrib-type="author"><collab>HEBON</collab><xref ref-type="aff" rid="af35">35</xref></contrib><contrib contrib-type="author"><collab>EMBRACE</collab><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Peock</surname><given-names>Susan</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Frost</surname><given-names>Debra</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Evans</surname><given-names>D. Gareth</given-names></name><xref ref-type="aff" rid="af36">36</xref></contrib><contrib contrib-type="author"><name><surname>Eeles</surname><given-names>Ros</given-names></name><xref ref-type="aff" rid="af37">37</xref></contrib><contrib contrib-type="author"><name><surname>Izatt</surname><given-names>Louise</given-names></name><xref ref-type="aff" rid="af38">38</xref></contrib><contrib contrib-type="author"><name><surname>Adlard</surname><given-names>Julian</given-names></name><xref ref-type="aff" rid="af39">39</xref></contrib><contrib contrib-type="author"><name><surname>Paterson</surname><given-names>Joan</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Eason</surname><given-names>Jacqueline</given-names></name><xref ref-type="aff" rid="af41">41</xref></contrib><contrib contrib-type="author"><name><surname>Godwin</surname><given-names>Andrew K.</given-names></name><xref ref-type="aff" rid="af42">42</xref></contrib><contrib contrib-type="author"><name><surname>Remon</surname><given-names>Marie-Alice</given-names></name><xref ref-type="aff" rid="af43">43</xref></contrib><contrib contrib-type="author"><name><surname>Moncoutier</surname><given-names>Virginie</given-names></name><xref ref-type="aff" rid="af43">43</xref></contrib><contrib contrib-type="author"><name><surname>Gauthier-Villars</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="af43">43</xref></contrib><contrib contrib-type="author"><name><surname>Lasset</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="af45">45</xref><xref ref-type="aff" rid="af46">46</xref></contrib><contrib contrib-type="author"><name><surname>Giraud</surname><given-names>Sophie</given-names></name><xref ref-type="aff" rid="af47">47</xref></contrib><contrib contrib-type="author"><name><surname>Hardouin</surname><given-names>Agnès</given-names></name><xref ref-type="aff" rid="af48">48</xref></contrib><contrib contrib-type="author"><name><surname>Berthet</surname><given-names>Pascaline</given-names></name><xref ref-type="aff" rid="af48">48</xref></contrib><contrib contrib-type="author"><name><surname>Sobol</surname><given-names>Hagay</given-names></name><xref ref-type="aff" rid="af49">49</xref></contrib><contrib contrib-type="author"><name><surname>Eisinger</surname><given-names>François</given-names></name><xref ref-type="aff" rid="af50">50</xref></contrib><contrib contrib-type="author"><name><surname>Bressac de Paillerets</surname><given-names>Brigitte</given-names></name><xref ref-type="aff" rid="af51">51</xref><xref ref-type="aff" rid="af53">53</xref></contrib><contrib contrib-type="author"><name><surname>Caron</surname><given-names>Olivier</given-names></name><xref ref-type="aff" rid="af52">52</xref></contrib><contrib contrib-type="author"><name><surname>Delnatte</surname><given-names>Capucine</given-names></name><xref ref-type="aff" rid="af54">54</xref></contrib><contrib contrib-type="author"><collab>GEMO Study Collaborators</collab><xref ref-type="aff" rid="af55">55</xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David</given-names></name><xref ref-type="aff" rid="af56">56</xref></contrib><contrib contrib-type="author"><name><surname>Miron</surname><given-names>Alex</given-names></name><xref ref-type="aff" rid="af57">57</xref></contrib><contrib contrib-type="author"><name><surname>Ozcelik</surname><given-names>Hilmi</given-names></name><xref ref-type="aff" rid="af11">11</xref></contrib><contrib contrib-type="author"><name><surname>Buys</surname><given-names>Saundra</given-names></name><xref ref-type="aff" rid="af58">58</xref></contrib><contrib contrib-type="author"><name><surname>Southey</surname><given-names>Melissa C.</given-names></name><xref ref-type="aff" rid="af59">59</xref></contrib><contrib contrib-type="author"><name><surname>Terry</surname><given-names>Mary Beth</given-names></name><xref ref-type="aff" rid="af60">60</xref></contrib><contrib contrib-type="author"><collab>The Breast Cancer Family Registry</collab><xref ref-type="aff" rid="af61">61</xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name><xref ref-type="aff" rid="af62">62</xref></contrib><contrib contrib-type="author"><name><surname>Dressler</surname><given-names>Anne-Catharina</given-names></name><xref ref-type="aff" rid="af62">62</xref></contrib><contrib contrib-type="author"><name><surname>Tea</surname><given-names>Muy-Kheng</given-names></name><xref ref-type="aff" rid="af62">62</xref></contrib><contrib contrib-type="author"><name><surname>Hansen</surname><given-names>Thomas V.O.</given-names></name><xref ref-type="aff" rid="af15">15</xref></contrib><contrib contrib-type="author"><name><surname>Johannsson</surname><given-names>Oskar</given-names></name><xref ref-type="aff" rid="af63">63</xref></contrib><contrib contrib-type="author"><name><surname>Piedmonte</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="af64">64</xref></contrib><contrib contrib-type="author"><name><surname>Rodriguez</surname><given-names>Gustavo C.</given-names></name><xref ref-type="aff" rid="af66">66</xref></contrib><contrib contrib-type="author"><name><surname>Basil</surname><given-names>Jack B.</given-names></name><xref ref-type="aff" rid="af67">67</xref></contrib><contrib contrib-type="author"><name><surname>Blank</surname><given-names>Stephanie</given-names></name><xref ref-type="aff" rid="af68">68</xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda E.</given-names></name><xref ref-type="aff" rid="af69">69</xref></contrib><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="af70">70</xref></contrib><contrib contrib-type="author"><name><surname>Isaacs</surname><given-names>Claudine</given-names></name><xref ref-type="aff" rid="af71">71</xref></contrib><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</given-names></name><xref ref-type="aff" rid="af72">72</xref></contrib><contrib contrib-type="author"><name><surname>Gayther</surname><given-names>Simon A.</given-names></name><xref ref-type="aff" rid="af73">73</xref></contrib><contrib contrib-type="author"><name><surname>Moysich</surname><given-names>Kirsten B.</given-names></name><xref ref-type="aff" rid="af65">65</xref></contrib><contrib contrib-type="author"><name><surname>Schmutzler</surname><given-names>Rita K.</given-names></name><xref ref-type="aff" rid="af74">74</xref></contrib><contrib contrib-type="author"><name><surname>Wappenschmidt</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="af74">74</xref></contrib><contrib contrib-type="author"><name><surname>Engel</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="af75">75</xref></contrib><contrib contrib-type="author"><name><surname>Meindl</surname><given-names>Alfons</given-names></name><xref ref-type="aff" rid="af76">76</xref></contrib><contrib contrib-type="author"><name><surname>Ditsch</surname><given-names>Nina</given-names></name><xref ref-type="aff" rid="af77">77</xref></contrib><contrib contrib-type="author"><name><surname>Arnold</surname><given-names>Norbert</given-names></name><xref ref-type="aff" rid="af78">78</xref></contrib><contrib contrib-type="author"><name><surname>Niederacher</surname><given-names>Dieter</given-names></name><xref ref-type="aff" rid="af79">79</xref></contrib><contrib contrib-type="author"><name><surname>Sutter</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="af80">80</xref></contrib><contrib contrib-type="author"><name><surname>Gadzicki</surname><given-names>Dorothea</given-names></name><xref ref-type="aff" rid="af81">81</xref></contrib><contrib contrib-type="author"><name><surname>Fiebig</surname><given-names>Britta</given-names></name><xref ref-type="aff" rid="af82">82</xref></contrib><contrib contrib-type="author"><name><surname>Caldes</surname><given-names>Trinidad</given-names></name><xref ref-type="aff" rid="af83">83</xref></contrib><contrib contrib-type="author"><name><surname>Laframboise</surname><given-names>Rachel</given-names></name><xref ref-type="aff" rid="af84">84</xref></contrib><contrib contrib-type="author"><name><surname>Nevanlinna</surname><given-names>Heli</given-names></name><xref ref-type="aff" rid="af85">85</xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Xiaoqing</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Beesley</surname><given-names>Jonathan</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Spurdle</surname><given-names>Amanda B.</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L.</given-names></name><xref ref-type="aff" rid="af86">86</xref></contrib><contrib contrib-type="author"><name><surname>Ding</surname><given-names>Yuan C.</given-names></name><xref ref-type="aff" rid="af86">86</xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="af87">87</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><xref ref-type="aff" rid="af87">87</xref></contrib><contrib contrib-type="author"><name><surname>Peterlongo</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="af88">88</xref><xref ref-type="aff" rid="af90">90</xref></contrib><contrib contrib-type="author"><name><surname>Manoukian</surname><given-names>Siranoush</given-names></name><xref ref-type="aff" rid="af89">89</xref></contrib><contrib contrib-type="author"><name><surname>Bernard</surname><given-names>Loris</given-names></name><xref ref-type="aff" rid="af91">91</xref><xref ref-type="aff" rid="af92">92</xref></contrib><contrib contrib-type="author"><name><surname>Radice</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="af88">88</xref><xref ref-type="aff" rid="af90">90</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="af43">43</xref><xref ref-type="aff" rid="af44">44</xref><xref ref-type="aff" rid="af93">93</xref></contrib><contrib contrib-type="author"><name><surname>Mazoyer</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Sinilnikova</surname><given-names>Olga M.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af47">47</xref><xref ref-type="corresp" rid="cor1">*</xref><on-behalf-of>on behalf of the Consortium of Investigators of Modifiers of BRCA1/2</on-behalf-of></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>INSERM U1052, CNRS UMR5286</addr-line>,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af2"><label>2</label><addr-line>Department of Epidemiology and Biostatistics, School of Public Health</addr-line>,<institution>Imperial College</institution>,<addr-line>London</addr-line>,<country>UK</country>,</aff><aff id="af3"><label>3</label><addr-line>Cancer Genomics Laboratory</addr-line>,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</aff><aff id="af4"><label>4</label><addr-line>Division of Hematology-Oncology, Research Center</addr-line>,<institution>Sainte-Justine University Health Center</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</aff><aff id="af5"><label>5</label><addr-line>Department of Pediatrics, Faculty of Medicine</addr-line>,<institution>University of Montreal</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</aff><aff id="af6"><label>6</label><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,<institution>University of Cambridge</institution>,<country>UK</country>,</aff><aff id="af7"><label>7</label><addr-line>Genetics and Population Health</addr-line>,<institution>Queensland Institute of Medical Research</institution>,<addr-line>Brisbane</addr-line>,<country>Australia</country>,</aff><aff id="af8"><label>8</label><institution>University of Delaware</institution>,<addr-line>Newark, DE</addr-line>,<country>USA</country>,</aff><aff id="af9"><label>9</label><addr-line>Clinical Genetics Branch</addr-line>,<institution>US National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</aff><aff id="af10"><label>10</label><addr-line>Department of Molecular Genetics and Laboratory Medicine and Pathobiology</addr-line>,<institution>University of Toronto</institution> and</aff><aff id="af11"><label>11</label><addr-line>Fred A. Litwin Center for Cancer Genetics</addr-line>,<institution>Samuel Lunenfeld Research Institute, Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</aff><aff id="af12"><label>12</label><institution>Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario</institution>,<addr-line>Ontario</addr-line>,<country>Canada</country>,</aff><aff id="af13"><label>13</label><addr-line>Department of Clinical Genetics</addr-line>,<institution>Odense University Hospital</institution>,<country>Denmark</country>,</aff><aff id="af14"><label>14</label><addr-line>Department of Clinical Genetics</addr-line> and</aff><aff id="af15"><label>15</label><institution>Center of Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</institution>,</aff><aff id="af16"><label>16</label><addr-line>Section of Genetic Oncology</addr-line>,<institution>University Hospital of Pisa</institution>,<addr-line>Pisa</addr-line>,<country>Italy</country>,</aff><aff id="af17"><label>17</label><institution>The Susanne Levy Gertner Oncogenetics Unit</institution> and</aff><aff id="af18"><label>18</label><institution>The Oncology Institute, Chaim Sheba Medical Center</institution>,<addr-line>Tel Hashomer</addr-line>,<country>Israel</country>,</aff><aff id="af19"><label>19</label><addr-line>The Sackler School of Medicine</addr-line>,<institution>Tel-Aviv University</institution>,<addr-line>Tel Aviv</addr-line>,<country>Israel</country>,</aff><aff id="af20"><label>20</label><addr-line>Department of Oncology</addr-line>,<institution>Lund University Hospital</institution>,<addr-line>Lund</addr-line>,<country>Sweden</country>,</aff><aff id="af21"><label>21</label><addr-line>Department of Oncology</addr-line>,<institution>Sahlgrenska University Hospital</institution>,<addr-line>Gothenburg</addr-line>,<country>Sweden</country>,</aff><aff id="af22"><label>22</label><addr-line>Department of Oncology</addr-line>,<institution>Linköping University Hospital</institution>,<addr-line>Linköping</addr-line>,<country>Sweden</country>,</aff><aff id="af23"><label>23</label><addr-line>Department of Clinical Genetics</addr-line>,<institution>Karolinska University Hospital</institution>,<addr-line>Stockholm</addr-line>,<country>Sweden</country>,</aff><aff id="af24"><label>24</label><institution>Swedish Breast Cancer Study</institution>,<country>Sweden</country>,</aff><aff id="af25"><label>25</label><addr-line>Abramson Cancer Center</addr-line>,<institution>Perelman School of Medicine, University of Pennsylvania</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</aff><aff id="af26"><label>26</label><addr-line>Human Genetics Group and Genotyping Unit, Human Cancer Genetics Programme and Spanish Network on Rare Diseases (CIBERER)</addr-line>,<institution>Spanish National Cancer Research Centre</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af27"><label>27</label><addr-line>Molecular Genetics of Breast Cancer</addr-line>,<institution>Deutsches Krebsforschungszentrum</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af28"><label>28</label><addr-line>Department of Epidemiology</addr-line>,<institution>Netherlands Cancer Institute</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af29"><label>29</label><addr-line>Department of Clinical Genetics, Family Cancer Clinic</addr-line>,<institution>Erasmus University Medical Center</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af30"><label>30</label><addr-line>Department of Medical Genetics</addr-line>,<institution>University Medical Center Utrecht</institution>,<addr-line>Utrecht</addr-line>,<country>The Netherlands</country>,</aff><aff id="af31"><label>31</label><addr-line>Department of Clinical Genetics</addr-line>,<institution>Academic Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af32"><label>32</label><addr-line>Department of Clinical Genetics</addr-line> and</aff><aff id="af33"><label>33</label><addr-line>Department of Human Genetics and Department of Pathology</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country>,</aff><aff id="af34"><label>34</label><addr-line>Department of Clinical Genetics</addr-line>,<institution>VU Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af35"><label>35</label><institution>The Hereditary Breast and Ovarian Cancer Research Group</institution>,<country>The Netherlands</country>,</aff><aff id="af36"><label>36</label><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre</addr-line>,<institution>Central Manchester University Hospitals NHS Foundation Trust</institution>,<addr-line>Manchester</addr-line>,<country>UK</country>,</aff><aff id="af37"><label>37</label><institution>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</institution>,<country>Surrey, UK</country>,</aff><aff id="af38"><label>38</label><addr-line>Clinical Genetics</addr-line>,<institution>Guy's and St. Thomas’ NHS Foundation Trust</institution>,<addr-line>London</addr-line>,<country>UK</country>,</aff><aff id="af39"><label>39</label><institution>Yorkshire Regional Genetics Service</institution>,<addr-line>Leeds</addr-line>,<country>UK</country>,</aff><aff id="af40"><label>40</label><addr-line>Department of Clinical Genetics, East Anglian Regional Genetics Service</addr-line>,<institution>Addenbrookes Hospital</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</aff><aff id="af41"><label>41</label><addr-line>Nottingham Clinical Genetics Service</addr-line>,<institution>Nottingham University Hospitals NHS Trust</institution>,<country>UK</country>,</aff><aff id="af42"><label>42</label><institution>Women's Cancer Program, Fox Chase Cancer Center</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country>,</aff><aff id="af43"><label>43</label><institution>Service de Génétique Oncologique</institution> and</aff><aff id="af44"><label>44</label><institution>Unité INSERM U830, Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af45"><label>45</label><institution>Université Lyon 1, CNRS UMR5558</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af46"><label>46</label><institution>Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af47"><label>47</label><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af48"><label>48</label><institution>Centre François Baclesse</institution>,<addr-line>Caen</addr-line>,<country>France</country>,</aff><aff id="af49"><label>49</label><addr-line>Département Oncologie génétique, Prévention et Dépistage, INSERM CIC-P9502</addr-line>,<institution>Institut Paoli-Calmettes/Université d'Aix-Marseille II</institution>,<addr-line>Marseille</addr-line>,<country>France</country>,</aff><aff id="af50"><label>50</label><addr-line>Cancer Control Department</addr-line>,<institution>Institut Paoli-Calmettes</institution>,<addr-line>Marseille</addr-line>,<country>France</country>,</aff><aff id="af51"><label>51</label><addr-line>Genetics Department</addr-line> and</aff><aff id="af52"><label>52</label><addr-line>Consultation de Génétique, Département de Médecine</addr-line>,<institution>Institut de Cancérologie Gustave Roussy</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</aff><aff id="af53"><label>53</label><addr-line>INSERM U946, Fondation Jean Dausset</addr-line>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af54"><label>54</label><addr-line>Service Oncologie Médicale</addr-line>,<institution>Centre René Gauducheau</institution>,<addr-line>Nantes</addr-line>,<country>France</country>,</aff><aff id="af55"><label>55</label><addr-line>GEMO study : Cancer Genetics Network “Groupe Génétique et Cancer”</addr-line>,<institution>Fédération Nationale des Centres de Lutte Contre le Cancer</institution>,<country>France</country>,</aff><aff id="af56"><label>56</label><addr-line>Department of Dermatology</addr-line>,<institution>University of Utah School of Medicine</institution>,<addr-line>Salt Lake City, UT</addr-line>,<country>USA</country>,</aff><aff id="af57"><label>57</label><institution>Dana Farber Cancer Institute</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</aff><aff id="af58"><label>58</label><institution>Huntsman Cancer Institute, University of Utah Health Sciences Centre</institution>,<addr-line>Salt Lake City, UT</addr-line>,<country>USA</country>,</aff><aff id="af59"><label>59</label><addr-line>Department of Pathology</addr-line>,<institution>University of Melbourne</institution>,<addr-line>Victoria</addr-line>,<country>Australia</country>,</aff><aff id="af60"><label>60</label><addr-line>Department of Epidemiology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</aff><aff id="af61"><label>61</label><institution>The Breast Cancer Family Registry</institution>,</aff><aff id="af62"><label>62</label><addr-line>Department of OB/GYN and Comprehensive Cancer Center</addr-line>,<institution>Medical University of Vienna</institution>,<country>Austria</country>,</aff><aff id="af63"><label>63</label><addr-line>Department of Oncology, Landspitali University Hospital, and Faculty of Medicine</addr-line>,<institution>University of Iceland</institution>,<addr-line>Reykjavik</addr-line>,<country>Iceland</country>,</aff><aff id="af64"><label>64</label><addr-line>Statistical and Data Center</addr-line>, and</aff><aff id="af65"><label>65</label><institution>Department of Cancer Prevention and Control, Roswell Park Cancer Institute</institution>,<addr-line>Buffalo, NY</addr-line>,<country>USA</country>,</aff><aff id="af66"><label>66</label><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>Northshore University Healthsystem, University of Chicago</institution>,<country>USA</country>,</aff><aff id="af67"><label>67</label><institution>Good Samaritan Hospital, Department of Obstetrics and Gynecology</institution>,<addr-line>Cincinnati, OH</addr-line>,<country>USA</country>,</aff><aff id="af68"><label>68</label><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>New York University School of Medicine</institution>,<addr-line>New York</addr-line>,<country>USA</country>,</aff><aff id="af69"><label>69</label><addr-line>Departments of Molecular Virology, Immunology and Medical Genetics and Internal Medicine, Comprehensive Cancer Center</addr-line>,<institution>The Ohio State University</institution>,<addr-line>Columbus, OH</addr-line>,<country>USA</country>,</aff><aff id="af70"><label>70</label><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Instituto Oncologico Veneto IOV - IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</aff><aff id="af71"><label>71</label><addr-line>Lombardi Comprehensive Cancer Center</addr-line>,<institution>Georgetown University</institution>,<addr-line>Washington, DC</addr-line>,<country>USA</country>,</aff><aff id="af72"><label>72</label><addr-line>Genetic Counseling Unit, Hereditary Cancer Program</addr-line>,<institution>Catalan Institute of Oncology</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af73"><label>73</label><addr-line>Department of Preventive Medicine, Keck School of Medicine</addr-line>,<institution>University of Southern California</institution>,<addr-line>Los Angeles</addr-line>,<country>USA</country>,</aff><aff id="af74"><label>74</label><addr-line>Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology</addr-line>,<institution>University Hospital of Cologne</institution>,<country>Germany</country>,</aff><aff id="af75"><label>75</label><addr-line>Institute for Medical Informatics, Statistics and Epidemiology</addr-line>,<institution>University of Leipzig</institution>,<country>Germany</country>,</aff><aff id="af76"><label>76</label><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar</addr-line>,<institution>Technical University Munich</institution>,<country>Germany</country>,</aff><aff id="af77"><label>77</label><addr-line>Department of Gynaecology and Obstetrics</addr-line>,<institution>Ludwig-Maximilian University Munich</institution>,<country>Germany</country>,</aff><aff id="af78"><label>78</label><addr-line>Department of Gynaecology and Obstetrics</addr-line>,<institution>University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel</institution>,<country>Germany</country>,</aff><aff id="af79"><label>79</label><addr-line>Department of Gynaecology and Obstetrics</addr-line>,<institution>University Hospital Düsseldorf</institution>,<institution>Heinrich-Heine University Düsseldorf</institution>,<country>Germany</country>,</aff><aff id="af80"><label>80</label><addr-line>Institute of Human Genetics, Division of Molecular Genetics</addr-line>,<institution>University of Heidelberg</institution>,<country>Germany</country>,</aff><aff id="af81"><label>81</label><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover</addr-line>,<country>Germany</country>,</aff><aff id="af82"><label>82</label><addr-line>Institute of Human Genetics</addr-line>,<institution>University Regensburg</institution>,<country>Germany</country>,</aff><aff id="af83"><label>83</label><institution>Molecular Oncology Laboratory, Hospital Clínico San Carlos</institution>,<addr-line>Martín Lagos s/n, Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af84"><label>84</label><addr-line>Medical Genetic Division</addr-line>,<institution>Centre Hospitalier Universitaire de Quebec and Laval University</institution>,<addr-line>Quebec City, QC</addr-line>,<country>Canada</country>,</aff><aff id="af85"><label>85</label><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</aff><aff id="af86"><label>86</label><addr-line>Department of Population Sciences</addr-line>,<institution>the Beckman Research Institute of the City of Hope</institution>,<addr-line>Duarte, CA</addr-line>,<country>USA</country>,</aff><aff id="af87"><label>87</label><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</aff><aff id="af88"><label>88</label><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing</addr-line>, and</aff><aff id="af89"><label>89</label><addr-line>Unit of Medical Genetics, Department of Preventive and Predicted Medicine</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af90"><label>90</label><institution>Fondazione Istituto FIRC di Oncologia Molecolare</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af91"><label>91</label><addr-line>Division of Experimental Oncology</addr-line>,<institution>Istituto Europeo di Oncologia (IEO)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af92"><label>92</label><institution>Cogentech, Consortium for Genomics Technology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>, and</aff><aff id="af93"><label>93</label><institution>Université Paris Descartes, Faculté de Médecine</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed. Tel: +<phone>33 478782924</phone>; Fax: +<fax>33 478782868</fax>; Email: <email>olga.sinilnikova@lyon.unicancer.fr</email></corresp></author-notes><pub-date pub-type="ppub"><day>1</day><month>12</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>2</day><month>9</month><year>2011</year></pub-date><volume>20</volume><issue>23</issue><fpage>4732</fpage><lpage>4747</lpage><history><date date-type="received"><day>11</day><month>6</month><year>2011</year></date><date date-type="accepted"><day>25</day><month>8</month><year>2011</year></date></history><permissions><copyright-statement>© The Author 2011. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2011</copyright-year></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="ddr388.pdf"></self-uri><abstract><p>Mutations in the <italic>BRCA1</italic> gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of <italic>BRCA1</italic> carried on the wild-type (non-mutated) copy of the <italic>BRCA1</italic> gene would modify the risk of breast cancer in carriers of <italic>BRCA1</italic> mutations. A total of 9874 <italic>BRCA1</italic> mutation carriers were available in the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic> (CIMBA) for haplotype analyses of <italic>BRCA1</italic>. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of <italic>BRCA1</italic> were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77–0.95, <italic>P</italic> = 0.003). Promoter <italic>in vitro</italic> assays of the major <italic>BRCA1</italic> haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of <italic>BRCA1</italic> modify risk of breast cancer among carriers of <italic>BRCA1</italic> mutations, possibly by altering the efficiency of <italic>BRCA1</italic> transcription.</p></abstract></article-meta></front></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 001865 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001865 | 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. |  |