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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium</title><author><name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af4"><addr-line>Human Cancer Genetics Programme</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name><affiliation><nlm:aff id="af6"><addr-line>Department of Obstetrics and Gynecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Molecular Epidemiology Group</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Arias Perez, Jose Ignacio" sort="Arias Perez, Jose Ignacio" uniqKey="Arias Perez J" first="Jose-Ignacio" last="Arias-Perez">Jose-Ignacio Arias-Perez</name><affiliation><nlm:aff id="af13"><addr-line>Servicio de Cirugía General y Especialidades</addr-line>,<institution>Hospital Monte Naranco</institution>,<addr-line>Oviedo</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Zamora, M Pilar" sort="Zamora, M Pilar" uniqKey="Zamora M" first="M. Pilar" last="Zamora">M. Pilar Zamora</name><affiliation><nlm:aff id="af14"><addr-line>Servicio de Oncología Médica</addr-line>,<institution>Hospital Universitario La Paz</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Menendez Rodriguez, Primitiva" sort="Menendez Rodriguez, Primitiva" uniqKey="Menendez Rodriguez P" first="Primitiva" last="Menéndez-Rodríguez">Primitiva Menéndez-Rodríguez</name><affiliation><nlm:aff id="af13"><addr-line>Servicio de Cirugía General y Especialidades</addr-line>,<institution>Hospital Monte Naranco</institution>,<addr-line>Oviedo</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Hardisson, David" sort="Hardisson, David" uniqKey="Hardisson D" first="David" last="Hardisson">David Hardisson</name><affiliation><nlm:aff id="af15"><addr-line>Department of Pathology,</addr-line><institution>Hospital Universitario La Paz</institution>,<institution>IdiPAZ (Hospital La Paz Institute for Health Research) Universidad Autonoma de Madrid</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Mendiola, Marta" sort="Mendiola, Marta" uniqKey="Mendiola M" first="Marta" last="Mendiola">Marta Mendiola</name><affiliation><nlm:aff id="af16"><addr-line>Laboratory of Pathology and Oncology, Research Unit</addr-line>,<institution>Hospital Universitario La Paz, IdiPAZ</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Gonzalez Neira, Anna" sort="Gonzalez Neira, Anna" uniqKey="Gonzalez Neira A" first="Anna" last="González-Neira">Anna González-Neira</name><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Pita, Guillermo" sort="Pita, Guillermo" uniqKey="Pita G" first="Guillermo" last="Pita">Guillermo Pita</name><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Alonso, M Rosario" sort="Alonso, M Rosario" uniqKey="Alonso M" first="M. Rosario" last="Alonso">M. Rosario Alonso</name><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name><affiliation><nlm:aff id="af17"><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>Sutton</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><addr-line>Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ashworth, Alan" sort="Ashworth, Alan" uniqKey="Ashworth A" first="Alan" last="Ashworth">Alan Ashworth</name><affiliation><nlm:aff id="af19"><addr-line>Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Orr, Nick" sort="Orr, Nick" uniqKey="Orr N" first="Nick" last="Orr">Nick Orr</name><affiliation><nlm:aff id="af19"><addr-line>Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Schoemaker, Minouk" sort="Schoemaker, Minouk" uniqKey="Schoemaker M" first="Minouk" last="Schoemaker">Minouk Schoemaker</name><affiliation><nlm:aff id="af17"><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>Sutton</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Ko, Yon Dschun" sort="Ko, Yon Dschun" uniqKey="Ko Y" first="Yon-Dschun" last="Ko">Yon-Dschun Ko</name><affiliation><nlm:aff id="af22"><addr-line>Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH</addr-line>,<institution>Johanniter Krankenhaus</institution>,<addr-line>Bonn</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name><affiliation><nlm:aff id="af23"><institution>Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology</institution>,<addr-line>Stuttgart</addr-line>,<country>Germany</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af24"><institution>University of Tübingen</institution>,<addr-line>Tübingen</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="af25"><addr-line>Molecular Genetics of Breast Cancer</addr-line>,<institution>Deutsches Krebsforschungszentrum (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</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 id="af29"><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af30"><addr-line>Department of Molecular Genetics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Knight, Julia A" sort="Knight, Julia A" uniqKey="Knight J" first="Julia A." last="Knight">Julia A. Knight</name><affiliation><nlm:aff id="af29"><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><addr-line>Division of Epidemiology, Dalla Lana School of Public Health</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name><affiliation><nlm:aff id="af32"><addr-line>Ontario Cancer Genetics Network</addr-line>,<institution>Lunenfeld-Tanenbaum Research Institute</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Tchatchou, Sandrine" sort="Tchatchou, Sandrine" uniqKey="Tchatchou S" first="Sandrine" last="Tchatchou">Sandrine Tchatchou</name><affiliation><nlm:aff id="af29"><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name><affiliation><nlm:aff id="af35"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Kyushu University Faculty of Medical Sciences</institution>,<addr-line>Fukuoka</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Ito, Hidemi" sort="Ito, Hidemi" uniqKey="Ito H" first="Hidemi" last="Ito">Hidemi Ito</name><affiliation><nlm:aff id="af36"><addr-line>Division of Epidemiology and Prevention</addr-line>,<institution>Aichi Cancer Center Research Institute</institution>,<addr-line>Nagoya</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Iwata, Hiroji" sort="Iwata, Hiroji" uniqKey="Iwata H" first="Hiroji" last="Iwata">Hiroji Iwata</name><affiliation><nlm:aff id="af37"><addr-line>Department of Breast Oncology</addr-line>,<institution>Aichi Cancer Center Hospital</institution>,<addr-line>Nagoya</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Tajima, Kazuo" sort="Tajima, Kazuo" uniqKey="Tajima K" first="Kazuo" last="Tajima">Kazuo Tajima</name><affiliation><nlm:aff id="af38"><addr-line>Department of Public Health & Occupational Medicine</addr-line>,<institution>Mie University Graduate School of Medicine</institution>,<addr-line>Tsu</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Li, Jingmei" sort="Li, Jingmei" uniqKey="Li J" first="Jingmei" last="Li">Jingmei Li</name><affiliation><nlm:aff id="af39"><addr-line>Human Genetics Division</addr-line>,<institution>Genome Institute of Singapore</institution>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Brand, Judith S" sort="Brand, Judith S" uniqKey="Brand J" first="Judith S." last="Brand">Judith S. Brand</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name><affiliation><nlm:aff id="af9"><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af43"><institution>German Cancer Consortium (DKTK)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Dieffenbach, Aida Karina" sort="Dieffenbach, Aida Karina" uniqKey="Dieffenbach A" first="Aida Karina" last="Dieffenbach">Aida Karina Dieffenbach</name><affiliation><nlm:aff id="af9"><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af43"><institution>German Cancer Consortium (DKTK)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name><affiliation><nlm:aff id="af9"><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Stegmaier, Christa" sort="Stegmaier, Christa" uniqKey="Stegmaier C" first="Christa" last="Stegmaier">Christa Stegmaier</name><affiliation><nlm:aff id="af44"><addr-line>Saarland Cancer Registry, Saarbrücken</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Lambrechts, Diether" sort="Lambrechts, Diether" uniqKey="Lambrechts D" first="Diether" last="Lambrechts">Diether Lambrechts</name><affiliation><nlm:aff id="af45"><institution>Vesalius Research Center (VRC), VIB</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Peuteman, Gilian" sort="Peuteman, Gilian" uniqKey="Peuteman G" first="Gilian" last="Peuteman">Gilian Peuteman</name><affiliation><nlm:aff id="af45"><institution>Vesalius Research Center (VRC), VIB</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Christiaens, Marie Rose" sort="Christiaens, Marie Rose" uniqKey="Christiaens M" first="Marie-Rose" last="Christiaens">Marie-Rose Christiaens</name><affiliation><nlm:aff id="af46"><addr-line>Multidisciplinary Breast Center</addr-line>,<institution>University Hospital Gasthuisberg</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Smeets, Ann" sort="Smeets, Ann" uniqKey="Smeets A" first="Ann" last="Smeets">Ann Smeets</name><affiliation><nlm:aff id="af46"><addr-line>Multidisciplinary Breast Center</addr-line>,<institution>University Hospital Gasthuisberg</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Jaworska Bieniek, Katarzyna" sort="Jaworska Bieniek, Katarzyna" uniqKey="Jaworska Bieniek K" first="Katarzyna" last="Jaworska-Bieniek">Katarzyna Jaworska-Bieniek</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Durda, Katazyna" sort="Durda, Katazyna" uniqKey="Durda K" first="Katazyna" last="Durda">Katazyna Durda</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name><affiliation><nlm:aff id="af48"><addr-line>Saw Swee Hock School of Public Health, Department of Surgery, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Hui, Miao" sort="Hui, Miao" uniqKey="Hui M" first="Miao" last="Hui">Miao Hui</name><affiliation><nlm:aff id="af49"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore and National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Yen Lim, Wei" sort="Yen Lim, Wei" uniqKey="Yen Lim W" first="Wei" last="Yen Lim">Wei Yen Lim</name><affiliation><nlm:aff id="af49"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore and National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Wan Chan, Ching" sort="Wan Chan, Ching" uniqKey="Wan Chan C" first="Ching" last="Wan Chan">Ching Wan Chan</name><affiliation><nlm:aff id="af50"><addr-line>Department of Surgery</addr-line>,<institution>National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Marme, Federick" sort="Marme, Federick" uniqKey="Marme F" first="Federick" last="Marme">Federick Marme</name><affiliation><nlm:aff id="af6"><addr-line>Department of Obstetrics and Gynecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af7"><addr-line>National Center for Tumor Diseases</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Yang, Rongxi" sort="Yang, Rongxi" uniqKey="Yang R" first="Rongxi" last="Yang">Rongxi Yang</name><affiliation><nlm:aff id="af6"><addr-line>Department of Obstetrics and Gynecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af7"><addr-line>National Center for Tumor Diseases</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Bugert, Peter" sort="Bugert, Peter" uniqKey="Bugert P" first="Peter" last="Bugert">Peter Bugert</name><affiliation><nlm:aff id="af51"><addr-line>Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim</addr-line>,<institution>Heidelberg University</institution>,<addr-line>Mannheim</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><nlm:aff id="af41"><addr-line>Department of Molecular Medicine and Surgery</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name><affiliation><nlm:aff id="af42"><addr-line>Department of Oncology and Pathology</addr-line>,<institution>Karolinska Institutet</institution>,<addr-line>Stockholm</addr-line>,<country>Sweden</country>,</nlm:aff></affiliation></author><author><name sortKey="Garcia Closas, Montserrat" sort="Garcia Closas, Montserrat" uniqKey="Garcia Closas M" first="Montserrat" last="García-Closas">Montserrat García-Closas</name><affiliation><nlm:aff id="af18"><addr-line>Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af20"><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af52"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af21"><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name><affiliation><nlm:aff id="af52"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lissowska, Jolanta" sort="Lissowska, Jolanta" uniqKey="Lissowska J" first="Jolanta" last="Lissowska">Jolanta Lissowska</name><affiliation><nlm:aff id="af53"><addr-line>Department of Cancer Epidemiology and Prevention</addr-line>,<institution>M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology</institution>,<addr-line>Warsaw</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Figueroa, Jonine D" sort="Figueroa, Jonine D" uniqKey="Figueroa J" first="Jonine D." last="Figueroa">Jonine D. Figueroa</name><affiliation><nlm:aff id="af52"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name><affiliation><nlm:aff id="af54"><addr-line>Copenhagen General Population Study, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af55"><addr-line>Department of Clinical Biochemistry, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af57"><addr-line>Faculty of Health and Medical Sciences</addr-line>,<institution>University of Copenhagen</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</nlm:aff></affiliation></author><author><name sortKey="Nordestgaard, B Rge G" sort="Nordestgaard, B Rge G" uniqKey="Nordestgaard B" first="B Rge G." last="Nordestgaard">B Rge G. Nordestgaard</name><affiliation><nlm:aff id="af54"><addr-line>Copenhagen General Population Study, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af55"><addr-line>Department of Clinical Biochemistry, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af57"><addr-line>Faculty of Health and Medical Sciences</addr-line>,<institution>University of Copenhagen</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</nlm:aff></affiliation></author><author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name><affiliation><nlm:aff id="af56"><addr-line>Department of Breast Surgery, Herlev Hospital</addr-line>,<institution>Copenhagen University Hospital</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</nlm:aff></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name><affiliation><nlm:aff id="af58"><addr-line>Department of Medical Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name><affiliation><nlm:aff id="af58"><addr-line>Department of Medical Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans M W" sort="Van Den Ouweland, Ans M W" uniqKey="Van Den Ouweland A" first="Ans M. W." last="Van Den Ouweland">Ans M. W. Van Den Ouweland</name><affiliation><nlm:aff id="af60"><addr-line>Department of Clinical Genetics</addr-line>,<institution>Erasmus University Medical Center</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Koppert, Linetta B" sort="Koppert, Linetta B" uniqKey="Koppert L" first="Linetta B." last="Koppert">Linetta B. Koppert</name><affiliation><nlm:aff id="af59"><addr-line>Department of Surgical Oncology</addr-line>,<institution>Family Cancer Clinic, Erasmus MC Cancer Institute</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name><affiliation><nlm:aff id="af20"><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name><affiliation><nlm:aff id="af20"><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Dos Santos Silva, Isabel" sort="Dos Santos Silva, Isabel" uniqKey="Dos Santos Silva I" first="Isabel" last="Dos-Santos-Silva">Isabel Dos-Santos-Silva</name><affiliation><nlm:aff id="af61"><institution>London School of Hygiene and Tropical Medicine</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name><affiliation><nlm:aff id="af61"><institution>London School of Hygiene and Tropical Medicine</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Deming Halverson, Sandra" sort="Deming Halverson, Sandra" uniqKey="Deming Halverson S" first="Sandra" last="Deming-Halverson">Sandra Deming-Halverson</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Shrubsole, Martha J" sort="Shrubsole, Martha J" uniqKey="Shrubsole M" first="Martha J." last="Shrubsole">Martha J. Shrubsole</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Long, Jirong" sort="Long, Jirong" uniqKey="Long J" first="Jirong" last="Long">Jirong Long</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Seibold, Petra" sort="Seibold, Petra" uniqKey="Seibold P" first="Petra" last="Seibold">Petra Seibold</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Flesch Janys, Dieter" sort="Flesch Janys, Dieter" uniqKey="Flesch Janys D" first="Dieter" last="Flesch-Janys">Dieter Flesch-Janys</name><affiliation><nlm:aff id="af63"><addr-line>Institute for Medical Biometrics and Epidemiology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af64"><addr-line>Department of Cancer Epidemiology/Clinical Cancer Registry</addr-line>,<institution>University Clinic Hamburg-Eppendorf</institution>,<addr-line>Hamburg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name><affiliation><nlm:aff id="af65"><addr-line>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu</addr-line>,<institution>University of Oulu, Northern Finland Laboratory Centre NordLab</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Pylk S, Katri" sort="Pylk S, Katri" uniqKey="Pylk S K" first="Katri" last="Pylk S">Katri Pylk S</name><affiliation><nlm:aff id="af65"><addr-line>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu</addr-line>,<institution>University of Oulu, Northern Finland Laboratory Centre NordLab</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Jukkola Vuorinen, Arja" sort="Jukkola Vuorinen, Arja" uniqKey="Jukkola Vuorinen A" first="Arja" last="Jukkola-Vuorinen">Arja Jukkola-Vuorinen</name><affiliation><nlm:aff id="af66"><addr-line>Department of Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Grip, Mervi" sort="Grip, Mervi" uniqKey="Grip M" first="Mervi" last="Grip">Mervi Grip</name><affiliation><nlm:aff id="af67"><addr-line>Department of Surgery</addr-line>,<institution>Oulu University Hospital</institution>,<institution>University of Oulu</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name><affiliation><nlm:aff id="af68"><addr-line>CRUK/YCR Sheffield Cancer Research Centre, Department of Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Cross, Simon S" sort="Cross, Simon S" uniqKey="Cross S" first="Simon S." last="Cross">Simon S. Cross</name><affiliation><nlm:aff id="af69"><addr-line>Academic Unit of Pathology, Department of Neuroscience</addr-line>,<institution>University of Sheffield</institution>,<addr-line>Sheffield</addr-line>,<addr-line>South Yorkshire</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Reed, Malcolm W R" sort="Reed, Malcolm W R" uniqKey="Reed M" first="Malcolm W. R." last="Reed">Malcolm W. R. Reed</name><affiliation><nlm:aff id="af68"><addr-line>CRUK/YCR Sheffield Cancer Research Centre, Department of Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K." last="Schmidt">Marjanka K. Schmidt</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Broeks, Annegien" sort="Broeks, Annegien" uniqKey="Broeks A" first="Annegien" last="Broeks">Annegien Broeks</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Cornelissen, Sten" sort="Cornelissen, Sten" uniqKey="Cornelissen S" first="Sten" last="Cornelissen">Sten Cornelissen</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Braaf, Linde" sort="Braaf, Linde" uniqKey="Braaf L" first="Linde" last="Braaf">Linde Braaf</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name><affiliation><nlm:aff id="af71"><addr-line>Department of Preventive Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af73"><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af74"><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Choi, Ji Yeob" sort="Choi, Ji Yeob" uniqKey="Choi J" first="Ji-Yeob" last="Choi">Ji-Yeob Choi</name><affiliation><nlm:aff id="af73"><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af74"><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Park, Sue K" sort="Park, Sue K" uniqKey="Park S" first="Sue K." last="Park">Sue K. Park</name><affiliation><nlm:aff id="af71"><addr-line>Department of Preventive Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af73"><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af74"><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Noh, Dong Young" sort="Noh, Dong Young" uniqKey="Noh D" first="Dong-Young" last="Noh">Dong-Young Noh</name><affiliation><nlm:aff id="af72"><addr-line>Department of Surgery</addr-line>,<institution>Seoul National University College of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Korea</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="af75"><addr-line>Genomics Center</addr-line>,<institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University</institution>,<addr-line>QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Dumont, Martine" sort="Dumont, Martine" uniqKey="Dumont M" first="Martine" last="Dumont">Martine Dumont</name><affiliation><nlm:aff id="af75"><addr-line>Genomics Center</addr-line>,<institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University</institution>,<addr-line>QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Goldberg, Mark S" sort="Goldberg, Mark S" uniqKey="Goldberg M" first="Mark S." last="Goldberg">Mark S. Goldberg</name><affiliation><nlm:aff id="af76"><addr-line>Department of Medicine</addr-line>,<institution>McGill University</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af77"><addr-line>Division of Clinical Epidemiology</addr-line>,<institution>McGill University Health Centre, Royal Victoria Hospital</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Labreche, France" sort="Labreche, France" uniqKey="Labreche F" first="France" last="Labrèche">France Labrèche</name><affiliation><nlm:aff id="af78"><addr-line>Département de médecine sociale et préventive, Département de santé environnementale et santé au travail</addr-line>,<institution>Université de Montréal</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A." last="Fasching">Peter A. Fasching</name><affiliation><nlm:aff id="af79"><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af81"><addr-line>David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology</addr-line>,<institution>University of California at Los Angeles</institution>,<addr-line>CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hein, Alexander" sort="Hein, Alexander" uniqKey="Hein A" first="Alexander" last="Hein">Alexander Hein</name><affiliation><nlm:aff id="af79"><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ekici, Arif B" sort="Ekici, Arif B" uniqKey="Ekici A" first="Arif B." last="Ekici">Arif B. Ekici</name><affiliation><nlm:aff id="af80"><addr-line>Institute of Human Genetics</addr-line>,<institution>University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>,<addr-line>Erlangen</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Beckmann, Matthias W" sort="Beckmann, Matthias W" uniqKey="Beckmann M" first="Matthias W." last="Beckmann">Matthias W. Beckmann</name><affiliation><nlm:aff id="af79"><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="af82"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="af84"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Azzollini, Jacopo" sort="Azzollini, Jacopo" uniqKey="Azzollini J" first="Jacopo" last="Azzollini">Jacopo Azzollini</name><affiliation><nlm:aff id="af83"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori (INT)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name><affiliation><nlm:aff id="af85"><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia (IEO)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Sawyer, Elinor" sort="Sawyer, Elinor" uniqKey="Sawyer E" first="Elinor" last="Sawyer">Elinor Sawyer</name><affiliation><nlm:aff id="af86"><addr-line>Division of Cancer Studies</addr-line>,<institution>NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas’ NHS Foundation Trust in partnership with King's College London</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name><affiliation><nlm:aff id="af87"><addr-line>Wellcome Trust Centre for Human Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af88"><addr-line>Oxford Biomedical Research Centre</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Kerin, Michael" sort="Kerin, Michael" uniqKey="Kerin M" first="Michael" last="Kerin">Michael Kerin</name><affiliation><nlm:aff id="af89"><addr-line>School of Medicine, Clinical Science Institute</addr-line>,<institution>National University of Ireland</institution>,<addr-line>Galway</addr-line>,<country>Ireland</country>,</nlm:aff></affiliation></author><author><name sortKey="Miller, Nicola" sort="Miller, Nicola" uniqKey="Miller N" first="Nicola" last="Miller">Nicola Miller</name><affiliation><nlm:aff id="af89"><addr-line>School of Medicine, Clinical Science Institute</addr-line>,<institution>National University of Ireland</institution>,<addr-line>Galway</addr-line>,<country>Ireland</country>,</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Daniel F" sort="Schmidt, Daniel F" uniqKey="Schmidt D" first="Daniel F." last="Schmidt">Daniel F. Schmidt</name><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Makalic, Enes" sort="Makalic, Enes" uniqKey="Makalic E" first="Enes" last="Makalic">Enes Makalic</name><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="af3"><addr-line>Department of Pathology</addr-line>,<institution>The University of Melbourne</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Hwang Teo, Soo" sort="Hwang Teo, Soo" uniqKey="Hwang Teo S" first="Soo" last="Hwang Teo">Soo Hwang Teo</name><affiliation><nlm:aff id="af90"><addr-line>Cancer Research Initiatives Foundation</addr-line>,<institution>Sime Darby Medical Centre</institution>,<addr-line>Subang Jaya</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af91"><addr-line>Breast Cancer Research Unit</addr-line>,<institution>University Malaya Cancer Research Institute, University Malaya Medical Centre</institution>,<addr-line>Kuala Lumpur</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Har Yip, Cheng" sort="Har Yip, Cheng" uniqKey="Har Yip C" first="Cheng" last="Har Yip">Cheng Har Yip</name><affiliation><nlm:aff id="af91"><addr-line>Breast Cancer Research Unit</addr-line>,<institution>University Malaya Cancer Research Institute, University Malaya Medical Centre</institution>,<addr-line>Kuala Lumpur</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Sivanandan, Kavitta" sort="Sivanandan, Kavitta" uniqKey="Sivanandan K" first="Kavitta" last="Sivanandan">Kavitta Sivanandan</name><affiliation><nlm:aff id="af90"><addr-line>Cancer Research Initiatives Foundation</addr-line>,<institution>Sime Darby Medical Centre</institution>,<addr-line>Subang Jaya</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Tay, Wan Ting" sort="Tay, Wan Ting" uniqKey="Tay W" first="Wan-Ting" last="Tay">Wan-Ting Tay</name><affiliation><nlm:aff id="af92"><addr-line>Singapore Eye Research Institute</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name><affiliation><nlm:aff id="af93"><institution>Institute of Biomedical Sciences, Academia Sinica</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af94"><addr-line>College of Public Health</addr-line>,<institution>China Medical University</institution>,<addr-line>Taichong</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Hsiung, Chia Ni" sort="Hsiung, Chia Ni" uniqKey="Hsiung C" first="Chia-Ni" last="Hsiung">Chia-Ni Hsiung</name><affiliation><nlm:aff id="af93"><institution>Institute of Biomedical Sciences, Academia Sinica</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Yu, Jyh Cherng" sort="Yu, Jyh Cherng" uniqKey="Yu J" first="Jyh-Cherng" last="Yu">Jyh-Cherng Yu</name><affiliation><nlm:aff id="af95"><institution>Tri-Service General Hospital</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Hou, Ming Feng" sort="Hou, Ming Feng" uniqKey="Hou M" first="Ming-Feng" last="Hou">Ming-Feng Hou</name><affiliation><nlm:aff id="af96"><addr-line>Cancer Center</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af97"><addr-line>Department of Surgery</addr-line>,<institution>Kaohsiung Medical University Chung-Ho Memorial Hospital</institution>,<addr-line>Kaohsiung</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name><affiliation><nlm:aff id="af98"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af99"><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Therese" last="Truong">Therese Truong</name><affiliation><nlm:aff id="af98"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af99"><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Sanchez, Marie" sort="Sanchez, Marie" uniqKey="Sanchez M" first="Marie" last="Sanchez">Marie Sanchez</name><affiliation><nlm:aff id="af98"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af99"><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Mulot, Claire" sort="Mulot, Claire" uniqKey="Mulot C" first="Claire" last="Mulot">Claire Mulot</name><affiliation><nlm:aff id="af100"><institution>Inserm (National Institute of Health and Medical Research)</institution>,<addr-line>U775, Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af101"><institution>Centre de Ressources Biologiques EPIGENETEC</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Blot, William" sort="Blot, William" uniqKey="Blot W" first="William" last="Blot">William Blot</name><affiliation><nlm:aff id="af102"><addr-line>Department of Medicine</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Cai, Qiuyin" sort="Cai, Qiuyin" uniqKey="Cai Q" first="Qiuyin" last="Cai">Qiuyin Cai</name><affiliation><nlm:aff id="af102"><addr-line>Department of Medicine</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name><affiliation><nlm:aff id="af103"><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>University of Helsinki and Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Muranen, Taru A" sort="Muranen, Taru A" uniqKey="Muranen T" first="Taru A." last="Muranen">Taru A. Muranen</name><affiliation><nlm:aff id="af103"><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>University of Helsinki and Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="af104"><addr-line>Department of Clinical Genetics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Blomqvist, Carl" sort="Blomqvist, Carl" uniqKey="Blomqvist C" first="Carl" last="Blomqvist">Carl Blomqvist</name><affiliation><nlm:aff id="af105"><addr-line>Department of Oncology</addr-line>,<institution>Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Wu, Anna H" sort="Wu, Anna H" uniqKey="Wu A" first="Anna H." last="Wu">Anna H. Wu</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Tseng, Chiu Chen" sort="Tseng, Chiu Chen" uniqKey="Tseng C" first="Chiu-Chen" last="Tseng">Chiu-Chen Tseng</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Van Den Berg, David" sort="Van Den Berg, David" uniqKey="Van Den Berg D" first="David" last="Van Den Berg">David Van Den Berg</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Stram, Daniel O" sort="Stram, Daniel O" uniqKey="Stram D" first="Daniel O." last="Stram">Daniel O. Stram</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Bogdanova, Natalia" sort="Bogdanova, Natalia" uniqKey="Bogdanova N" first="Natalia" last="Bogdanova">Natalia Bogdanova</name><affiliation><nlm:aff id="af107"><addr-line>Department of Obstetrics and Gynaecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af108"><addr-line>Department of Radiation Oncology</addr-line>,<institution>Hannover Medical School</institution>,<addr-line>Hannover</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name><affiliation><nlm:aff id="af107"><addr-line>Department of Obstetrics and Gynaecology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name><affiliation><nlm:aff id="af109"><addr-line>Institute of Population Health</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af110"><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name><affiliation><nlm:aff id="af110"><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Stewart Brown, Sarah" sort="Stewart Brown, Sarah" uniqKey="Stewart Brown S" first="Sarah" last="Stewart-Brown">Sarah Stewart-Brown</name><affiliation><nlm:aff id="af110"><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Siriwanarangsan, Pornthep" sort="Siriwanarangsan, Pornthep" uniqKey="Siriwanarangsan P" first="Pornthep" last="Siriwanarangsan">Pornthep Siriwanarangsan</name><affiliation><nlm:aff id="af111"><addr-line>Ministry of Public Health</addr-line>,<country>Thailand</country>,</nlm:aff></affiliation></author><author><name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name><affiliation><nlm:aff id="af112"><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af115"><addr-line>Department of Clinical Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Kataja, Vesa" sort="Kataja, Vesa" uniqKey="Kataja V" first="Vesa" last="Kataja">Vesa Kataja</name><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af114"><addr-line>School of Medicine, Institute of Clinical Medicine, Oncology</addr-line>,<institution>University of Eastern Finland</institution>,<addr-line>Kuopio</addr-line>,<country>Finland</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af116"><addr-line>Cancer Center</addr-line>,<institution>Kuopio University Hospital</institution>,<addr-line>Kuopio</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Kosma, Veli Matti" sort="Kosma, Veli Matti" uniqKey="Kosma V" first="Veli-Matti" last="Kosma">Veli-Matti Kosma</name><affiliation><nlm:aff id="af112"><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af115"><addr-line>Department of Clinical Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Hartikainen, Jaana M" sort="Hartikainen, Jaana M" uniqKey="Hartikainen J" first="Jaana M." last="Hartikainen">Jaana M. Hartikainen</name><affiliation><nlm:aff id="af112"><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af115"><addr-line>Department of Clinical Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Shu, Xiao Ou" sort="Shu, Xiao Ou" uniqKey="Shu X" first="Xiao-Ou" last="Shu">Xiao-Ou Shu</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lu, Wei" sort="Lu, Wei" uniqKey="Lu W" first="Wei" last="Lu">Wei Lu</name><affiliation><nlm:aff id="af117"><addr-line>Shanghai Center for Disease Control and Prevention, Shanghai</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Gao, Yu Tang" sort="Gao, Yu Tang" uniqKey="Gao Y" first="Yu-Tang" last="Gao">Yu-Tang Gao</name><affiliation><nlm:aff id="af118"><institution>Shanghai Cancer Institute</institution>,<addr-line>Shanghai</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Ben" sort="Zhang, Ben" uniqKey="Zhang B" first="Ben" last="Zhang">Ben Zhang</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="af119"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda E" sort="Toland, Amanda E" uniqKey="Toland A" first="Amanda E." last="Toland">Amanda E. Toland</name><affiliation><nlm:aff id="af122"><addr-line>Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center</addr-line>,<institution>The Ohio State University</institution>,<addr-line>Columbus, OH</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Yannoukakos, Drakoulis" sort="Yannoukakos, Drakoulis" uniqKey="Yannoukakos D" first="Drakoulis" last="Yannoukakos">Drakoulis Yannoukakos</name><affiliation><nlm:aff id="af123"><addr-line>Molecular Diagnostics Laboratory, INRASTES</addr-line>,<institution>National Centre for Scientific Research ‘Demokritos’</institution>,<addr-line>Athens</addr-line>,<country>Greece</country>,</nlm:aff></affiliation></author><author><name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name><affiliation><nlm:aff id="af124"><institution>National Cancer Institute</institution>,<addr-line>Bangkok</addr-line>,<country>Thailand</country>,</nlm:aff></affiliation></author><author><name sortKey="Mckay, James" sort="Mckay, James" uniqKey="Mckay J" first="James" last="Mckay">James Mckay</name><affiliation><nlm:aff id="af125"><addr-line>Genetic Susceptibility Group</addr-line>,<institution>International Agency for Research on Cancer</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="af119"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Olson, Janet E" sort="Olson, Janet E" uniqKey="Olson J" first="Janet E." last="Olson">Janet E. Olson</name><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Vachon, Celine" sort="Vachon, Celine" uniqKey="Vachon C" first="Celine" last="Vachon">Celine Vachon</name><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Purrington, Kristen" sort="Purrington, Kristen" uniqKey="Purrington K" first="Kristen" last="Purrington">Kristen Purrington</name><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Severi, Gianluca" sort="Severi, Gianluca" uniqKey="Severi G" first="Gianluca" last="Severi">Gianluca Severi</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Baglietto, Laura" sort="Baglietto, Laura" uniqKey="Baglietto L" first="Laura" last="Baglietto">Laura Baglietto</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Haiman, Christopher A" sort="Haiman, Christopher A" uniqKey="Haiman C" first="Christopher A." last="Haiman">Christopher A. Haiman</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Henderson, Brian E" sort="Henderson, Brian E" uniqKey="Henderson B" first="Brian E." last="Henderson">Brian E. Henderson</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Schumacher, Fredrick" sort="Schumacher, Fredrick" uniqKey="Schumacher F" first="Fredrick" last="Schumacher">Fredrick Schumacher</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Le Marchand, Loic" sort="Le Marchand, Loic" uniqKey="Le Marchand L" first="Loic" last="Le Marchand">Loic Le Marchand</name><affiliation><nlm:aff id="af126"><addr-line>University of Hawaii Cancer Center, Honolulu, HI</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff wicri:cut=" and" id="af127"><addr-line>Department of Human Genetics</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tollenaar, Robert A E M" sort="Tollenaar, Robert A E M" uniqKey="Tollenaar R" first="Robert A. E. M." last="Tollenaar">Robert A. E. M. Tollenaar</name><affiliation><nlm:aff id="af128"><addr-line>Department of Surgical Oncology</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Seynaeve, Caroline" sort="Seynaeve, Caroline" uniqKey="Seynaeve C" first="Caroline" last="Seynaeve">Caroline Seynaeve</name><affiliation><nlm:aff id="af58"><addr-line>Department of Medical Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Eriksson, Mikael" sort="Eriksson, Mikael" uniqKey="Eriksson M" first="Mikael" last="Eriksson">Mikael Eriksson</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Humphreys, Keith" sort="Humphreys, Keith" uniqKey="Humphreys K" first="Keith" last="Humphreys">Keith Humphreys</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ahmed, Shahana" sort="Ahmed, Shahana" uniqKey="Ahmed S" first="Shahana" last="Ahmed">Shahana Ahmed</name><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D. P." last="Pharoah">Paul D. P. Pharoah</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benítez">Javier Benítez</name><affiliation><nlm:aff id="af4"><addr-line>Human Cancer Genetics Programme</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="af34"><institution>QIMR Berghofer Institute of Medical Research</institution>,<addr-line>Brisbane</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24943594</idno><idno type="pmc">4204770</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204770</idno><idno type="RBID">PMC:4204770</idno><idno type="doi">10.1093/hmg/ddu311</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002578</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002578</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium</title><author><name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af4"><addr-line>Human Cancer Genetics Programme</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name><affiliation><nlm:aff id="af6"><addr-line>Department of Obstetrics and Gynecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Molecular Epidemiology Group</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Arias Perez, Jose Ignacio" sort="Arias Perez, Jose Ignacio" uniqKey="Arias Perez J" first="Jose-Ignacio" last="Arias-Perez">Jose-Ignacio Arias-Perez</name><affiliation><nlm:aff id="af13"><addr-line>Servicio de Cirugía General y Especialidades</addr-line>,<institution>Hospital Monte Naranco</institution>,<addr-line>Oviedo</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Zamora, M Pilar" sort="Zamora, M Pilar" uniqKey="Zamora M" first="M. Pilar" last="Zamora">M. Pilar Zamora</name><affiliation><nlm:aff id="af14"><addr-line>Servicio de Oncología Médica</addr-line>,<institution>Hospital Universitario La Paz</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Menendez Rodriguez, Primitiva" sort="Menendez Rodriguez, Primitiva" uniqKey="Menendez Rodriguez P" first="Primitiva" last="Menéndez-Rodríguez">Primitiva Menéndez-Rodríguez</name><affiliation><nlm:aff id="af13"><addr-line>Servicio de Cirugía General y Especialidades</addr-line>,<institution>Hospital Monte Naranco</institution>,<addr-line>Oviedo</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Hardisson, David" sort="Hardisson, David" uniqKey="Hardisson D" first="David" last="Hardisson">David Hardisson</name><affiliation><nlm:aff id="af15"><addr-line>Department of Pathology,</addr-line><institution>Hospital Universitario La Paz</institution>,<institution>IdiPAZ (Hospital La Paz Institute for Health Research) Universidad Autonoma de Madrid</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Mendiola, Marta" sort="Mendiola, Marta" uniqKey="Mendiola M" first="Marta" last="Mendiola">Marta Mendiola</name><affiliation><nlm:aff id="af16"><addr-line>Laboratory of Pathology and Oncology, Research Unit</addr-line>,<institution>Hospital Universitario La Paz, IdiPAZ</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Gonzalez Neira, Anna" sort="Gonzalez Neira, Anna" uniqKey="Gonzalez Neira A" first="Anna" last="González-Neira">Anna González-Neira</name><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Pita, Guillermo" sort="Pita, Guillermo" uniqKey="Pita G" first="Guillermo" last="Pita">Guillermo Pita</name><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Alonso, M Rosario" sort="Alonso, M Rosario" uniqKey="Alonso M" first="M. Rosario" last="Alonso">M. Rosario Alonso</name><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name><affiliation><nlm:aff id="af17"><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>Sutton</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><addr-line>Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ashworth, Alan" sort="Ashworth, Alan" uniqKey="Ashworth A" first="Alan" last="Ashworth">Alan Ashworth</name><affiliation><nlm:aff id="af19"><addr-line>Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Orr, Nick" sort="Orr, Nick" uniqKey="Orr N" first="Nick" last="Orr">Nick Orr</name><affiliation><nlm:aff id="af19"><addr-line>Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Schoemaker, Minouk" sort="Schoemaker, Minouk" uniqKey="Schoemaker M" first="Minouk" last="Schoemaker">Minouk Schoemaker</name><affiliation><nlm:aff id="af17"><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>Sutton</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Ko, Yon Dschun" sort="Ko, Yon Dschun" uniqKey="Ko Y" first="Yon-Dschun" last="Ko">Yon-Dschun Ko</name><affiliation><nlm:aff id="af22"><addr-line>Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH</addr-line>,<institution>Johanniter Krankenhaus</institution>,<addr-line>Bonn</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name><affiliation><nlm:aff id="af23"><institution>Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology</institution>,<addr-line>Stuttgart</addr-line>,<country>Germany</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af24"><institution>University of Tübingen</institution>,<addr-line>Tübingen</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="af25"><addr-line>Molecular Genetics of Breast Cancer</addr-line>,<institution>Deutsches Krebsforschungszentrum (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</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 id="af29"><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af30"><addr-line>Department of Molecular Genetics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Knight, Julia A" sort="Knight, Julia A" uniqKey="Knight J" first="Julia A." last="Knight">Julia A. Knight</name><affiliation><nlm:aff id="af29"><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><addr-line>Division of Epidemiology, Dalla Lana School of Public Health</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name><affiliation><nlm:aff id="af32"><addr-line>Ontario Cancer Genetics Network</addr-line>,<institution>Lunenfeld-Tanenbaum Research Institute</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Tchatchou, Sandrine" sort="Tchatchou, Sandrine" uniqKey="Tchatchou S" first="Sandrine" last="Tchatchou">Sandrine Tchatchou</name><affiliation><nlm:aff id="af29"><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name><affiliation><nlm:aff id="af35"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Kyushu University Faculty of Medical Sciences</institution>,<addr-line>Fukuoka</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Ito, Hidemi" sort="Ito, Hidemi" uniqKey="Ito H" first="Hidemi" last="Ito">Hidemi Ito</name><affiliation><nlm:aff id="af36"><addr-line>Division of Epidemiology and Prevention</addr-line>,<institution>Aichi Cancer Center Research Institute</institution>,<addr-line>Nagoya</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Iwata, Hiroji" sort="Iwata, Hiroji" uniqKey="Iwata H" first="Hiroji" last="Iwata">Hiroji Iwata</name><affiliation><nlm:aff id="af37"><addr-line>Department of Breast Oncology</addr-line>,<institution>Aichi Cancer Center Hospital</institution>,<addr-line>Nagoya</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Tajima, Kazuo" sort="Tajima, Kazuo" uniqKey="Tajima K" first="Kazuo" last="Tajima">Kazuo Tajima</name><affiliation><nlm:aff id="af38"><addr-line>Department of Public Health & Occupational Medicine</addr-line>,<institution>Mie University Graduate School of Medicine</institution>,<addr-line>Tsu</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Li, Jingmei" sort="Li, Jingmei" uniqKey="Li J" first="Jingmei" last="Li">Jingmei Li</name><affiliation><nlm:aff id="af39"><addr-line>Human Genetics Division</addr-line>,<institution>Genome Institute of Singapore</institution>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Brand, Judith S" sort="Brand, Judith S" uniqKey="Brand J" first="Judith S." last="Brand">Judith S. Brand</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name><affiliation><nlm:aff id="af9"><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af43"><institution>German Cancer Consortium (DKTK)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Dieffenbach, Aida Karina" sort="Dieffenbach, Aida Karina" uniqKey="Dieffenbach A" first="Aida Karina" last="Dieffenbach">Aida Karina Dieffenbach</name><affiliation><nlm:aff id="af9"><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af43"><institution>German Cancer Consortium (DKTK)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name><affiliation><nlm:aff id="af9"><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Stegmaier, Christa" sort="Stegmaier, Christa" uniqKey="Stegmaier C" first="Christa" last="Stegmaier">Christa Stegmaier</name><affiliation><nlm:aff id="af44"><addr-line>Saarland Cancer Registry, Saarbrücken</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Lambrechts, Diether" sort="Lambrechts, Diether" uniqKey="Lambrechts D" first="Diether" last="Lambrechts">Diether Lambrechts</name><affiliation><nlm:aff id="af45"><institution>Vesalius Research Center (VRC), VIB</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Peuteman, Gilian" sort="Peuteman, Gilian" uniqKey="Peuteman G" first="Gilian" last="Peuteman">Gilian Peuteman</name><affiliation><nlm:aff id="af45"><institution>Vesalius Research Center (VRC), VIB</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Christiaens, Marie Rose" sort="Christiaens, Marie Rose" uniqKey="Christiaens M" first="Marie-Rose" last="Christiaens">Marie-Rose Christiaens</name><affiliation><nlm:aff id="af46"><addr-line>Multidisciplinary Breast Center</addr-line>,<institution>University Hospital Gasthuisberg</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Smeets, Ann" sort="Smeets, Ann" uniqKey="Smeets A" first="Ann" last="Smeets">Ann Smeets</name><affiliation><nlm:aff id="af46"><addr-line>Multidisciplinary Breast Center</addr-line>,<institution>University Hospital Gasthuisberg</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</nlm:aff></affiliation></author><author><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Jaworska Bieniek, Katarzyna" sort="Jaworska Bieniek, Katarzyna" uniqKey="Jaworska Bieniek K" first="Katarzyna" last="Jaworska-Bieniek">Katarzyna Jaworska-Bieniek</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Durda, Katazyna" sort="Durda, Katazyna" uniqKey="Durda K" first="Katazyna" last="Durda">Katazyna Durda</name><affiliation><nlm:aff id="af47"><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name><affiliation><nlm:aff id="af48"><addr-line>Saw Swee Hock School of Public Health, Department of Surgery, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Hui, Miao" sort="Hui, Miao" uniqKey="Hui M" first="Miao" last="Hui">Miao Hui</name><affiliation><nlm:aff id="af49"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore and National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Yen Lim, Wei" sort="Yen Lim, Wei" uniqKey="Yen Lim W" first="Wei" last="Yen Lim">Wei Yen Lim</name><affiliation><nlm:aff id="af49"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore and National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Wan Chan, Ching" sort="Wan Chan, Ching" uniqKey="Wan Chan C" first="Ching" last="Wan Chan">Ching Wan Chan</name><affiliation><nlm:aff id="af50"><addr-line>Department of Surgery</addr-line>,<institution>National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Marme, Federick" sort="Marme, Federick" uniqKey="Marme F" first="Federick" last="Marme">Federick Marme</name><affiliation><nlm:aff id="af6"><addr-line>Department of Obstetrics and Gynecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af7"><addr-line>National Center for Tumor Diseases</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Yang, Rongxi" sort="Yang, Rongxi" uniqKey="Yang R" first="Rongxi" last="Yang">Rongxi Yang</name><affiliation><nlm:aff id="af6"><addr-line>Department of Obstetrics and Gynecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af7"><addr-line>National Center for Tumor Diseases</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Bugert, Peter" sort="Bugert, Peter" uniqKey="Bugert P" first="Peter" last="Bugert">Peter Bugert</name><affiliation><nlm:aff id="af51"><addr-line>Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim</addr-line>,<institution>Heidelberg University</institution>,<addr-line>Mannheim</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><nlm:aff id="af41"><addr-line>Department of Molecular Medicine and Surgery</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name><affiliation><nlm:aff id="af42"><addr-line>Department of Oncology and Pathology</addr-line>,<institution>Karolinska Institutet</institution>,<addr-line>Stockholm</addr-line>,<country>Sweden</country>,</nlm:aff></affiliation></author><author><name sortKey="Garcia Closas, Montserrat" sort="Garcia Closas, Montserrat" uniqKey="Garcia Closas M" first="Montserrat" last="García-Closas">Montserrat García-Closas</name><affiliation><nlm:aff id="af18"><addr-line>Division of Breast Cancer Research</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af20"><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af52"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af21"><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J." last="Chanock">Stephen J. Chanock</name><affiliation><nlm:aff id="af52"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lissowska, Jolanta" sort="Lissowska, Jolanta" uniqKey="Lissowska J" first="Jolanta" last="Lissowska">Jolanta Lissowska</name><affiliation><nlm:aff id="af53"><addr-line>Department of Cancer Epidemiology and Prevention</addr-line>,<institution>M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology</institution>,<addr-line>Warsaw</addr-line>,<country>Poland</country>,</nlm:aff></affiliation></author><author><name sortKey="Figueroa, Jonine D" sort="Figueroa, Jonine D" uniqKey="Figueroa J" first="Jonine D." last="Figueroa">Jonine D. Figueroa</name><affiliation><nlm:aff id="af52"><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name><affiliation><nlm:aff id="af54"><addr-line>Copenhagen General Population Study, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af55"><addr-line>Department of Clinical Biochemistry, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af57"><addr-line>Faculty of Health and Medical Sciences</addr-line>,<institution>University of Copenhagen</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</nlm:aff></affiliation></author><author><name sortKey="Nordestgaard, B Rge G" sort="Nordestgaard, B Rge G" uniqKey="Nordestgaard B" first="B Rge G." last="Nordestgaard">B Rge G. Nordestgaard</name><affiliation><nlm:aff id="af54"><addr-line>Copenhagen General Population Study, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af55"><addr-line>Department of Clinical Biochemistry, Herlev Hospital</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af57"><addr-line>Faculty of Health and Medical Sciences</addr-line>,<institution>University of Copenhagen</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</nlm:aff></affiliation></author><author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name><affiliation><nlm:aff id="af56"><addr-line>Department of Breast Surgery, Herlev Hospital</addr-line>,<institution>Copenhagen University Hospital</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</nlm:aff></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name><affiliation><nlm:aff id="af58"><addr-line>Department of Medical Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name><affiliation><nlm:aff id="af58"><addr-line>Department of Medical Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans M W" sort="Van Den Ouweland, Ans M W" uniqKey="Van Den Ouweland A" first="Ans M. W." last="Van Den Ouweland">Ans M. W. Van Den Ouweland</name><affiliation><nlm:aff id="af60"><addr-line>Department of Clinical Genetics</addr-line>,<institution>Erasmus University Medical Center</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Koppert, Linetta B" sort="Koppert, Linetta B" uniqKey="Koppert L" first="Linetta B." last="Koppert">Linetta B. Koppert</name><affiliation><nlm:aff id="af59"><addr-line>Department of Surgical Oncology</addr-line>,<institution>Family Cancer Clinic, Erasmus MC Cancer Institute</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name><affiliation><nlm:aff id="af20"><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name><affiliation><nlm:aff id="af20"><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Dos Santos Silva, Isabel" sort="Dos Santos Silva, Isabel" uniqKey="Dos Santos Silva I" first="Isabel" last="Dos-Santos-Silva">Isabel Dos-Santos-Silva</name><affiliation><nlm:aff id="af61"><institution>London School of Hygiene and Tropical Medicine</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name><affiliation><nlm:aff id="af61"><institution>London School of Hygiene and Tropical Medicine</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Deming Halverson, Sandra" sort="Deming Halverson, Sandra" uniqKey="Deming Halverson S" first="Sandra" last="Deming-Halverson">Sandra Deming-Halverson</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Shrubsole, Martha J" sort="Shrubsole, Martha J" uniqKey="Shrubsole M" first="Martha J." last="Shrubsole">Martha J. Shrubsole</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Long, Jirong" sort="Long, Jirong" uniqKey="Long J" first="Jirong" last="Long">Jirong Long</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Seibold, Petra" sort="Seibold, Petra" uniqKey="Seibold P" first="Petra" last="Seibold">Petra Seibold</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Flesch Janys, Dieter" sort="Flesch Janys, Dieter" uniqKey="Flesch Janys D" first="Dieter" last="Flesch-Janys">Dieter Flesch-Janys</name><affiliation><nlm:aff id="af63"><addr-line>Institute for Medical Biometrics and Epidemiology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af64"><addr-line>Department of Cancer Epidemiology/Clinical Cancer Registry</addr-line>,<institution>University Clinic Hamburg-Eppendorf</institution>,<addr-line>Hamburg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name><affiliation><nlm:aff id="af65"><addr-line>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu</addr-line>,<institution>University of Oulu, Northern Finland Laboratory Centre NordLab</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Pylk S, Katri" sort="Pylk S, Katri" uniqKey="Pylk S K" first="Katri" last="Pylk S">Katri Pylk S</name><affiliation><nlm:aff id="af65"><addr-line>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu</addr-line>,<institution>University of Oulu, Northern Finland Laboratory Centre NordLab</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Jukkola Vuorinen, Arja" sort="Jukkola Vuorinen, Arja" uniqKey="Jukkola Vuorinen A" first="Arja" last="Jukkola-Vuorinen">Arja Jukkola-Vuorinen</name><affiliation><nlm:aff id="af66"><addr-line>Department of Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Grip, Mervi" sort="Grip, Mervi" uniqKey="Grip M" first="Mervi" last="Grip">Mervi Grip</name><affiliation><nlm:aff id="af67"><addr-line>Department of Surgery</addr-line>,<institution>Oulu University Hospital</institution>,<institution>University of Oulu</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name><affiliation><nlm:aff id="af68"><addr-line>CRUK/YCR Sheffield Cancer Research Centre, Department of Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Cross, Simon S" sort="Cross, Simon S" uniqKey="Cross S" first="Simon S." last="Cross">Simon S. Cross</name><affiliation><nlm:aff id="af69"><addr-line>Academic Unit of Pathology, Department of Neuroscience</addr-line>,<institution>University of Sheffield</institution>,<addr-line>Sheffield</addr-line>,<addr-line>South Yorkshire</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Reed, Malcolm W R" sort="Reed, Malcolm W R" uniqKey="Reed M" first="Malcolm W. R." last="Reed">Malcolm W. R. Reed</name><affiliation><nlm:aff id="af68"><addr-line>CRUK/YCR Sheffield Cancer Research Centre, Department of Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K." last="Schmidt">Marjanka K. Schmidt</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Broeks, Annegien" sort="Broeks, Annegien" uniqKey="Broeks A" first="Annegien" last="Broeks">Annegien Broeks</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Cornelissen, Sten" sort="Cornelissen, Sten" uniqKey="Cornelissen S" first="Sten" last="Cornelissen">Sten Cornelissen</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Braaf, Linde" sort="Braaf, Linde" uniqKey="Braaf L" first="Linde" last="Braaf">Linde Braaf</name><affiliation><nlm:aff id="af70"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name><affiliation><nlm:aff id="af71"><addr-line>Department of Preventive Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af73"><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af74"><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Choi, Ji Yeob" sort="Choi, Ji Yeob" uniqKey="Choi J" first="Ji-Yeob" last="Choi">Ji-Yeob Choi</name><affiliation><nlm:aff id="af73"><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af74"><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Park, Sue K" sort="Park, Sue K" uniqKey="Park S" first="Sue K." last="Park">Sue K. Park</name><affiliation><nlm:aff id="af71"><addr-line>Department of Preventive Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af73"><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af74"><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Noh, Dong Young" sort="Noh, Dong Young" uniqKey="Noh D" first="Dong-Young" last="Noh">Dong-Young Noh</name><affiliation><nlm:aff id="af72"><addr-line>Department of Surgery</addr-line>,<institution>Seoul National University College of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Korea</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="af75"><addr-line>Genomics Center</addr-line>,<institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University</institution>,<addr-line>QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Dumont, Martine" sort="Dumont, Martine" uniqKey="Dumont M" first="Martine" last="Dumont">Martine Dumont</name><affiliation><nlm:aff id="af75"><addr-line>Genomics Center</addr-line>,<institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University</institution>,<addr-line>QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Goldberg, Mark S" sort="Goldberg, Mark S" uniqKey="Goldberg M" first="Mark S." last="Goldberg">Mark S. Goldberg</name><affiliation><nlm:aff id="af76"><addr-line>Department of Medicine</addr-line>,<institution>McGill University</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af77"><addr-line>Division of Clinical Epidemiology</addr-line>,<institution>McGill University Health Centre, Royal Victoria Hospital</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Labreche, France" sort="Labreche, France" uniqKey="Labreche F" first="France" last="Labrèche">France Labrèche</name><affiliation><nlm:aff id="af78"><addr-line>Département de médecine sociale et préventive, Département de santé environnementale et santé au travail</addr-line>,<institution>Université de Montréal</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A." last="Fasching">Peter A. Fasching</name><affiliation><nlm:aff id="af79"><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af81"><addr-line>David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology</addr-line>,<institution>University of California at Los Angeles</institution>,<addr-line>CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hein, Alexander" sort="Hein, Alexander" uniqKey="Hein A" first="Alexander" last="Hein">Alexander Hein</name><affiliation><nlm:aff id="af79"><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ekici, Arif B" sort="Ekici, Arif B" uniqKey="Ekici A" first="Arif B." last="Ekici">Arif B. Ekici</name><affiliation><nlm:aff id="af80"><addr-line>Institute of Human Genetics</addr-line>,<institution>University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>,<addr-line>Erlangen</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Beckmann, Matthias W" sort="Beckmann, Matthias W" uniqKey="Beckmann M" first="Matthias W." last="Beckmann">Matthias W. Beckmann</name><affiliation><nlm:aff id="af79"><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="af82"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="af84"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Azzollini, Jacopo" sort="Azzollini, Jacopo" uniqKey="Azzollini J" first="Jacopo" last="Azzollini">Jacopo Azzollini</name><affiliation><nlm:aff id="af83"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori (INT)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name><affiliation><nlm:aff id="af85"><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia (IEO)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Sawyer, Elinor" sort="Sawyer, Elinor" uniqKey="Sawyer E" first="Elinor" last="Sawyer">Elinor Sawyer</name><affiliation><nlm:aff id="af86"><addr-line>Division of Cancer Studies</addr-line>,<institution>NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas’ NHS Foundation Trust in partnership with King's College London</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name><affiliation><nlm:aff id="af87"><addr-line>Wellcome Trust Centre for Human Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af88"><addr-line>Oxford Biomedical Research Centre</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Kerin, Michael" sort="Kerin, Michael" uniqKey="Kerin M" first="Michael" last="Kerin">Michael Kerin</name><affiliation><nlm:aff id="af89"><addr-line>School of Medicine, Clinical Science Institute</addr-line>,<institution>National University of Ireland</institution>,<addr-line>Galway</addr-line>,<country>Ireland</country>,</nlm:aff></affiliation></author><author><name sortKey="Miller, Nicola" sort="Miller, Nicola" uniqKey="Miller N" first="Nicola" last="Miller">Nicola Miller</name><affiliation><nlm:aff id="af89"><addr-line>School of Medicine, Clinical Science Institute</addr-line>,<institution>National University of Ireland</institution>,<addr-line>Galway</addr-line>,<country>Ireland</country>,</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Daniel F" sort="Schmidt, Daniel F" uniqKey="Schmidt D" first="Daniel F." last="Schmidt">Daniel F. Schmidt</name><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Makalic, Enes" sort="Makalic, Enes" uniqKey="Makalic E" first="Enes" last="Makalic">Enes Makalic</name><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="af3"><addr-line>Department of Pathology</addr-line>,<institution>The University of Melbourne</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Hwang Teo, Soo" sort="Hwang Teo, Soo" uniqKey="Hwang Teo S" first="Soo" last="Hwang Teo">Soo Hwang Teo</name><affiliation><nlm:aff id="af90"><addr-line>Cancer Research Initiatives Foundation</addr-line>,<institution>Sime Darby Medical Centre</institution>,<addr-line>Subang Jaya</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af91"><addr-line>Breast Cancer Research Unit</addr-line>,<institution>University Malaya Cancer Research Institute, University Malaya Medical Centre</institution>,<addr-line>Kuala Lumpur</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Har Yip, Cheng" sort="Har Yip, Cheng" uniqKey="Har Yip C" first="Cheng" last="Har Yip">Cheng Har Yip</name><affiliation><nlm:aff id="af91"><addr-line>Breast Cancer Research Unit</addr-line>,<institution>University Malaya Cancer Research Institute, University Malaya Medical Centre</institution>,<addr-line>Kuala Lumpur</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Sivanandan, Kavitta" sort="Sivanandan, Kavitta" uniqKey="Sivanandan K" first="Kavitta" last="Sivanandan">Kavitta Sivanandan</name><affiliation><nlm:aff id="af90"><addr-line>Cancer Research Initiatives Foundation</addr-line>,<institution>Sime Darby Medical Centre</institution>,<addr-line>Subang Jaya</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Tay, Wan Ting" sort="Tay, Wan Ting" uniqKey="Tay W" first="Wan-Ting" last="Tay">Wan-Ting Tay</name><affiliation><nlm:aff id="af92"><addr-line>Singapore Eye Research Institute</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name><affiliation><nlm:aff id="af93"><institution>Institute of Biomedical Sciences, Academia Sinica</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af94"><addr-line>College of Public Health</addr-line>,<institution>China Medical University</institution>,<addr-line>Taichong</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Hsiung, Chia Ni" sort="Hsiung, Chia Ni" uniqKey="Hsiung C" first="Chia-Ni" last="Hsiung">Chia-Ni Hsiung</name><affiliation><nlm:aff id="af93"><institution>Institute of Biomedical Sciences, Academia Sinica</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Yu, Jyh Cherng" sort="Yu, Jyh Cherng" uniqKey="Yu J" first="Jyh-Cherng" last="Yu">Jyh-Cherng Yu</name><affiliation><nlm:aff id="af95"><institution>Tri-Service General Hospital</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Hou, Ming Feng" sort="Hou, Ming Feng" uniqKey="Hou M" first="Ming-Feng" last="Hou">Ming-Feng Hou</name><affiliation><nlm:aff id="af96"><addr-line>Cancer Center</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af97"><addr-line>Department of Surgery</addr-line>,<institution>Kaohsiung Medical University Chung-Ho Memorial Hospital</institution>,<addr-line>Kaohsiung</addr-line>,<country>Taiwan</country>,</nlm:aff></affiliation></author><author><name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name><affiliation><nlm:aff id="af98"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af99"><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Therese" last="Truong">Therese Truong</name><affiliation><nlm:aff id="af98"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af99"><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Sanchez, Marie" sort="Sanchez, Marie" uniqKey="Sanchez M" first="Marie" last="Sanchez">Marie Sanchez</name><affiliation><nlm:aff id="af98"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af99"><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Mulot, Claire" sort="Mulot, Claire" uniqKey="Mulot C" first="Claire" last="Mulot">Claire Mulot</name><affiliation><nlm:aff id="af100"><institution>Inserm (National Institute of Health and Medical Research)</institution>,<addr-line>U775, Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af101"><institution>Centre de Ressources Biologiques EPIGENETEC</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Blot, William" sort="Blot, William" uniqKey="Blot W" first="William" last="Blot">William Blot</name><affiliation><nlm:aff id="af102"><addr-line>Department of Medicine</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Cai, Qiuyin" sort="Cai, Qiuyin" uniqKey="Cai Q" first="Qiuyin" last="Cai">Qiuyin Cai</name><affiliation><nlm:aff id="af102"><addr-line>Department of Medicine</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name><affiliation><nlm:aff id="af103"><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>University of Helsinki and Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Muranen, Taru A" sort="Muranen, Taru A" uniqKey="Muranen T" first="Taru A." last="Muranen">Taru A. Muranen</name><affiliation><nlm:aff id="af103"><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>University of Helsinki and Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="af104"><addr-line>Department of Clinical Genetics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Blomqvist, Carl" sort="Blomqvist, Carl" uniqKey="Blomqvist C" first="Carl" last="Blomqvist">Carl Blomqvist</name><affiliation><nlm:aff id="af105"><addr-line>Department of Oncology</addr-line>,<institution>Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Wu, Anna H" sort="Wu, Anna H" uniqKey="Wu A" first="Anna H." last="Wu">Anna H. Wu</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Tseng, Chiu Chen" sort="Tseng, Chiu Chen" uniqKey="Tseng C" first="Chiu-Chen" last="Tseng">Chiu-Chen Tseng</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Van Den Berg, David" sort="Van Den Berg, David" uniqKey="Van Den Berg D" first="David" last="Van Den Berg">David Van Den Berg</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Stram, Daniel O" sort="Stram, Daniel O" uniqKey="Stram D" first="Daniel O." last="Stram">Daniel O. Stram</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Bogdanova, Natalia" sort="Bogdanova, Natalia" uniqKey="Bogdanova N" first="Natalia" last="Bogdanova">Natalia Bogdanova</name><affiliation><nlm:aff id="af107"><addr-line>Department of Obstetrics and Gynaecology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af108"><addr-line>Department of Radiation Oncology</addr-line>,<institution>Hannover Medical School</institution>,<addr-line>Hannover</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name><affiliation><nlm:aff id="af107"><addr-line>Department of Obstetrics and Gynaecology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name><affiliation><nlm:aff id="af109"><addr-line>Institute of Population Health</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af110"><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name><affiliation><nlm:aff id="af110"><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Stewart Brown, Sarah" sort="Stewart Brown, Sarah" uniqKey="Stewart Brown S" first="Sarah" last="Stewart-Brown">Sarah Stewart-Brown</name><affiliation><nlm:aff id="af110"><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Siriwanarangsan, Pornthep" sort="Siriwanarangsan, Pornthep" uniqKey="Siriwanarangsan P" first="Pornthep" last="Siriwanarangsan">Pornthep Siriwanarangsan</name><affiliation><nlm:aff id="af111"><addr-line>Ministry of Public Health</addr-line>,<country>Thailand</country>,</nlm:aff></affiliation></author><author><name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name><affiliation><nlm:aff id="af112"><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af115"><addr-line>Department of Clinical Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Kataja, Vesa" sort="Kataja, Vesa" uniqKey="Kataja V" first="Vesa" last="Kataja">Vesa Kataja</name><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af114"><addr-line>School of Medicine, Institute of Clinical Medicine, Oncology</addr-line>,<institution>University of Eastern Finland</institution>,<addr-line>Kuopio</addr-line>,<country>Finland</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af116"><addr-line>Cancer Center</addr-line>,<institution>Kuopio University Hospital</institution>,<addr-line>Kuopio</addr-line>,<country>Finland</country>,</nlm:aff></affiliation></author><author><name sortKey="Kosma, Veli Matti" sort="Kosma, Veli Matti" uniqKey="Kosma V" first="Veli-Matti" last="Kosma">Veli-Matti Kosma</name><affiliation><nlm:aff id="af112"><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af115"><addr-line>Department of Clinical Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Hartikainen, Jaana M" sort="Hartikainen, Jaana M" uniqKey="Hartikainen J" first="Jaana M." last="Hartikainen">Jaana M. Hartikainen</name><affiliation><nlm:aff id="af112"><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af113"><addr-line>Biocenter Kuopio</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af115"><addr-line>Department of Clinical Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Shu, Xiao Ou" sort="Shu, Xiao Ou" uniqKey="Shu X" first="Xiao-Ou" last="Shu">Xiao-Ou Shu</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lu, Wei" sort="Lu, Wei" uniqKey="Lu W" first="Wei" last="Lu">Wei Lu</name><affiliation><nlm:aff id="af117"><addr-line>Shanghai Center for Disease Control and Prevention, Shanghai</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Gao, Yu Tang" sort="Gao, Yu Tang" uniqKey="Gao Y" first="Yu-Tang" last="Gao">Yu-Tang Gao</name><affiliation><nlm:aff id="af118"><institution>Shanghai Cancer Institute</institution>,<addr-line>Shanghai</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Ben" sort="Zhang, Ben" uniqKey="Zhang B" first="Ben" last="Zhang">Ben Zhang</name><affiliation><nlm:aff id="af62"><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="af119"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda E" sort="Toland, Amanda E" uniqKey="Toland A" first="Amanda E." last="Toland">Amanda E. Toland</name><affiliation><nlm:aff id="af122"><addr-line>Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center</addr-line>,<institution>The Ohio State University</institution>,<addr-line>Columbus, OH</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Yannoukakos, Drakoulis" sort="Yannoukakos, Drakoulis" uniqKey="Yannoukakos D" first="Drakoulis" last="Yannoukakos">Drakoulis Yannoukakos</name><affiliation><nlm:aff id="af123"><addr-line>Molecular Diagnostics Laboratory, INRASTES</addr-line>,<institution>National Centre for Scientific Research ‘Demokritos’</institution>,<addr-line>Athens</addr-line>,<country>Greece</country>,</nlm:aff></affiliation></author><author><name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name><affiliation><nlm:aff id="af124"><institution>National Cancer Institute</institution>,<addr-line>Bangkok</addr-line>,<country>Thailand</country>,</nlm:aff></affiliation></author><author><name sortKey="Mckay, James" sort="Mckay, James" uniqKey="Mckay J" first="James" last="Mckay">James Mckay</name><affiliation><nlm:aff id="af125"><addr-line>Genetic Susceptibility Group</addr-line>,<institution>International Agency for Research on Cancer</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="af119"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Olson, Janet E" sort="Olson, Janet E" uniqKey="Olson J" first="Janet E." last="Olson">Janet E. Olson</name><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Vachon, Celine" sort="Vachon, Celine" uniqKey="Vachon C" first="Celine" last="Vachon">Celine Vachon</name><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Purrington, Kristen" sort="Purrington, Kristen" uniqKey="Purrington K" first="Kristen" last="Purrington">Kristen Purrington</name><affiliation><nlm:aff id="af120"><addr-line>Department of Health Sciences Research</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Severi, Gianluca" sort="Severi, Gianluca" uniqKey="Severi G" first="Gianluca" last="Severi">Gianluca Severi</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Baglietto, Laura" sort="Baglietto, Laura" uniqKey="Baglietto L" first="Laura" last="Baglietto">Laura Baglietto</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Haiman, Christopher A" sort="Haiman, Christopher A" uniqKey="Haiman C" first="Christopher A." last="Haiman">Christopher A. Haiman</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Henderson, Brian E" sort="Henderson, Brian E" uniqKey="Henderson B" first="Brian E." last="Henderson">Brian E. Henderson</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Schumacher, Fredrick" sort="Schumacher, Fredrick" uniqKey="Schumacher F" first="Fredrick" last="Schumacher">Fredrick Schumacher</name><affiliation><nlm:aff id="af106"><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Le Marchand, Loic" sort="Le Marchand, Loic" uniqKey="Le Marchand L" first="Loic" last="Le Marchand">Loic Le Marchand</name><affiliation><nlm:aff id="af126"><addr-line>University of Hawaii Cancer Center, Honolulu, HI</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff wicri:cut=" and" id="af127"><addr-line>Department of Human Genetics</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tollenaar, Robert A E M" sort="Tollenaar, Robert A E M" uniqKey="Tollenaar R" first="Robert A. E. M." last="Tollenaar">Robert A. E. M. Tollenaar</name><affiliation><nlm:aff id="af128"><addr-line>Department of Surgical Oncology</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Seynaeve, Caroline" sort="Seynaeve, Caroline" uniqKey="Seynaeve C" first="Caroline" last="Seynaeve">Caroline Seynaeve</name><affiliation><nlm:aff id="af58"><addr-line>Department of Medical Oncology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Eriksson, Mikael" sort="Eriksson, Mikael" uniqKey="Eriksson M" first="Mikael" last="Eriksson">Mikael Eriksson</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Humphreys, Keith" sort="Humphreys, Keith" uniqKey="Humphreys K" first="Keith" last="Humphreys">Keith Humphreys</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ahmed, Shahana" sort="Ahmed, Shahana" uniqKey="Ahmed S" first="Shahana" last="Ahmed">Shahana Ahmed</name><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D. P." last="Pharoah">Paul D. P. Pharoah</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="af1"><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benítez">Javier Benítez</name><affiliation><nlm:aff id="af4"><addr-line>Human Cancer Genetics Programme</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af5"><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="af34"><institution>QIMR Berghofer Institute of Medical Research</institution>,<addr-line>Brisbane</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="af11"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</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="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: <italic>ATXN7-</italic>K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04–1.10, <italic>P</italic> = 2.9 × 10<sup>−6</sup>], <italic>AKAP9-</italic>M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03–1.07, <italic>P</italic> = 1.7 × 10<sup>−6</sup>) and <italic>NEK10-</italic>L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07–1.12, <italic>P</italic> = 5.1 × 10<sup>−17</sup>). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for <italic>ATXN7-</italic>K264R, OR = 1.07 (95% CI = 1.05–1.10, <italic>P</italic> = 1.0 × 10<sup>−8</sup>); for <italic>AKAP9-</italic>M463I, OR = 1.05 (95% CI = 1.04–1.07, <italic>P</italic> = 2.0 × 10<sup>−10</sup>). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Bojesen, S E" uniqKey="Bojesen S">S.E. Bojesen</name></author><author><name sortKey="Pooley, K A" uniqKey="Pooley K">K.A. Pooley</name></author><author><name sortKey="Johnatty, S E" uniqKey="Johnatty S">S.E. Johnatty</name></author><author><name sortKey="Beesley, J" uniqKey="Beesley J">J. Beesley</name></author><author><name sortKey="Michailidou, K" uniqKey="Michailidou K">K. Michailidou</name></author><author><name sortKey="Tyrer, J P" uniqKey="Tyrer J">J.P. Tyrer</name></author><author><name sortKey="Edwards, S L" uniqKey="Edwards S">S.L. 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rid="af110">110</xref></contrib><contrib contrib-type="author"><name><surname>Lophatananon</surname><given-names>Artitaya</given-names></name><xref ref-type="aff" rid="af110">110</xref></contrib><contrib contrib-type="author"><name><surname>Stewart-Brown</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="af110">110</xref></contrib><contrib contrib-type="author"><name><surname>Siriwanarangsan</surname><given-names>Pornthep</given-names></name><xref ref-type="aff" rid="af111">111</xref></contrib><contrib contrib-type="author"><name><surname>Mannermaa</surname><given-names>Arto</given-names></name><xref ref-type="aff" rid="af112">112</xref><xref ref-type="aff" rid="af113">113</xref><xref ref-type="aff" rid="af115">115</xref></contrib><contrib contrib-type="author"><name><surname>Kataja</surname><given-names>Vesa</given-names></name><xref ref-type="aff" rid="af113">113</xref><xref ref-type="aff" rid="af114">114</xref><xref ref-type="aff" rid="af116">116</xref></contrib><contrib contrib-type="author"><name><surname>Kosma</surname><given-names>Veli-Matti</given-names></name><xref ref-type="aff" rid="af112">112</xref><xref ref-type="aff" rid="af113">113</xref><xref ref-type="aff" rid="af115">115</xref></contrib><contrib contrib-type="author"><name><surname>Hartikainen</surname><given-names>Jaana M.</given-names></name><xref ref-type="aff" rid="af112">112</xref><xref ref-type="aff" rid="af113">113</xref><xref ref-type="aff" rid="af115">115</xref></contrib><contrib contrib-type="author"><name><surname>Shu</surname><given-names>Xiao-Ou</given-names></name><xref ref-type="aff" rid="af62">62</xref></contrib><contrib contrib-type="author"><name><surname>Lu</surname><given-names>Wei</given-names></name><xref ref-type="aff" rid="af117">117</xref></contrib><contrib contrib-type="author"><name><surname>Gao</surname><given-names>Yu-Tang</given-names></name><xref ref-type="aff" rid="af118">118</xref></contrib><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Ben</given-names></name><xref ref-type="aff" rid="af62">62</xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="af119">119</xref><xref ref-type="aff" rid="af120">120</xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda E.</given-names></name><xref ref-type="aff" rid="af122">122</xref></contrib><contrib contrib-type="author"><collab>TNBCC</collab><xref ref-type="aff" rid="af121">121</xref></contrib><contrib contrib-type="author"><name><surname>Yannoukakos</surname><given-names>Drakoulis</given-names></name><xref ref-type="aff" rid="af123">123</xref></contrib><contrib contrib-type="author"><name><surname>Sangrajrang</surname><given-names>Suleeporn</given-names></name><xref ref-type="aff" rid="af124">124</xref></contrib><contrib contrib-type="author"><name><surname>McKay</surname><given-names>James</given-names></name><xref ref-type="aff" rid="af125">125</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><xref ref-type="aff" rid="af119">119</xref></contrib><contrib contrib-type="author"><name><surname>Olson</surname><given-names>Janet E.</given-names></name><xref ref-type="aff" rid="af120">120</xref></contrib><contrib contrib-type="author"><name><surname>Vachon</surname><given-names>Celine</given-names></name><xref ref-type="aff" rid="af120">120</xref></contrib><contrib contrib-type="author"><name><surname>Purrington</surname><given-names>Kristen</given-names></name><xref ref-type="aff" rid="af120">120</xref></contrib><contrib contrib-type="author"><name><surname>Severi</surname><given-names>Gianluca</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>Baglietto</surname><given-names>Laura</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>Haiman</surname><given-names>Christopher A.</given-names></name><xref ref-type="aff" rid="af106">106</xref></contrib><contrib contrib-type="author"><name><surname>Henderson</surname><given-names>Brian E.</given-names></name><xref ref-type="aff" rid="af106">106</xref></contrib><contrib contrib-type="author"><name><surname>Schumacher</surname><given-names>Fredrick</given-names></name><xref ref-type="aff" rid="af106">106</xref></contrib><contrib contrib-type="author"><name><surname>Le Marchand</surname><given-names>Loic</given-names></name><xref ref-type="aff" rid="af126">126</xref></contrib><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="af127">127</xref></contrib><contrib contrib-type="author"><name><surname>Tollenaar</surname><given-names>Robert A.E.M.</given-names></name><xref ref-type="aff" rid="af128">128</xref></contrib><contrib contrib-type="author"><name><surname>Seynaeve</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="af58">58</xref></contrib><contrib contrib-type="author"><name><surname>Czene</surname><given-names>Kamila</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Eriksson</surname><given-names>Mikael</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Humphreys</surname><given-names>Keith</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Darabi</surname><given-names>Hatef</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Ahmed</surname><given-names>Shahana</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Shah</surname><given-names>Mitul</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Pharoah</surname><given-names>Paul D.P.</given-names></name><xref ref-type="aff" rid="af11">11</xref><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Hall</surname><given-names>Per</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Giles</surname><given-names>Graham 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>Benítez</surname><given-names>Javier</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>Dunning</surname><given-names>Alison M.</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="af34">34</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="af11">11</xref><xref ref-type="aff" rid="af12">12</xref></contrib><aff id="af1"><label>1</label><addr-line>Cancer Epidemiology Centre</addr-line>,<institution>Cancer Council Victoria</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</aff><aff id="af2"><label>2</label><addr-line>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health</addr-line>,</aff><aff id="af3"><label>3</label><addr-line>Department of Pathology</addr-line>,<institution>The University of Melbourne</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</aff><aff id="af4"><label>4</label><addr-line>Human Cancer Genetics Programme</addr-line>,</aff><aff id="af5"><label>5</label><addr-line>Human Genotyping-CEGEN Unit</addr-line>,<institution>Spanish National Cancer Research Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af6"><label>6</label><addr-line>Department of Obstetrics and Gynecology</addr-line>,</aff><aff id="af7"><label>7</label><addr-line>National Center for Tumor Diseases</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af8"><label>8</label><addr-line>Molecular Epidemiology Group</addr-line>,</aff><aff id="af9"><label>9</label><addr-line>Division of Clinical Epidemiology and Aging Research</addr-line>,</aff><aff id="af10"><label>10</label><addr-line>Division of Cancer Epidemiology</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af11"><label>11</label><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>,</aff><aff id="af12"><label>12</label><addr-line>Centre for Cancer Genetic Epidemiology, Department of Oncology</addr-line>,<institution>University of Cambridge</institution>,<addr-line>Cambridge</addr-line>,<country>UK</country>,</aff><aff id="af13"><label>13</label><addr-line>Servicio de Cirugía General y Especialidades</addr-line>,<institution>Hospital Monte Naranco</institution>,<addr-line>Oviedo</addr-line>,<country>Spain</country>,</aff><aff id="af14"><label>14</label><addr-line>Servicio de Oncología Médica</addr-line>,<institution>Hospital Universitario La Paz</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af15"><label>15</label><addr-line>Department of Pathology,</addr-line><institution>Hospital Universitario La Paz</institution>,<institution>IdiPAZ (Hospital La Paz Institute for Health Research) Universidad Autonoma de Madrid</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af16"><label>16</label><addr-line>Laboratory of Pathology and Oncology, Research Unit</addr-line>,<institution>Hospital Universitario La Paz, IdiPAZ</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af17"><label>17</label><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>Sutton</addr-line>,<country>UK</country>,</aff><aff id="af18"><label>18</label><addr-line>Division of Breast Cancer Research</addr-line>,</aff><aff id="af19"><label>19</label><addr-line>Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research</addr-line>,</aff><aff id="af20"><label>20</label><addr-line>Breakthrough Breast Cancer Research Centre</addr-line>,</aff><aff id="af21"><label>21</label><addr-line>Division of Genetics and Epidemiology</addr-line>,<institution>The Institute of Cancer Research</institution>,<addr-line>London</addr-line>,<country>UK</country>,</aff><aff id="af22"><label>22</label><addr-line>Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH</addr-line>,<institution>Johanniter Krankenhaus</institution>,<addr-line>Bonn</addr-line>,<country>Germany</country>,</aff><aff id="af23"><label>23</label><institution>Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology</institution>,<addr-line>Stuttgart</addr-line>,<country>Germany</country>,</aff><aff id="af24"><label>24</label><institution>University of Tübingen</institution>,<addr-line>Tübingen</addr-line>,<country>Germany</country>,</aff><aff id="af25"><label>25</label><addr-line>Molecular Genetics of Breast Cancer</addr-line>,<institution>Deutsches Krebsforschungszentrum (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af26"><label>26</label><addr-line>Institute for Prevention and Occupational Medicine of the German Social Accident Insurance</addr-line>,<institution>Institute of the Ruhr-University Bochum (IPA)</institution>,<addr-line>Bochum</addr-line>,<country>Germany</country>,</aff><aff id="af27"><label>27</label><addr-line>Institute for Occupational Medicine and Maritime Medicine</addr-line>,<institution>University Medical Center Hamburg-Eppendorf</institution>,<addr-line>Hamburg</addr-line>,<country>Germany</country>,</aff><aff id="af28"><label>28</label><addr-line>Institute of Pathology</addr-line>,<institution>Medical Faculty of the University of Bonn</institution>,<addr-line>Bonn</addr-line>,<country>Germany</country>,</aff><aff id="af29"><label>29</label><addr-line>Lunenfeld-Tanenbaum Research Institute</addr-line>,<institution>Mount Sinai Hospital</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</aff><aff id="af30"><label>30</label><addr-line>Department of Molecular Genetics</addr-line>,</aff><aff id="af31"><label>31</label><addr-line>Division of Epidemiology, Dalla Lana School of Public Health</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</aff><aff id="af32"><label>32</label><addr-line>Ontario Cancer Genetics Network</addr-line>,<institution>Lunenfeld-Tanenbaum Research Institute</institution>,<addr-line>Toronto, ON</addr-line>,<country>Canada</country>,</aff><aff id="af33"><label>33</label><institution>Peter MacCallum Cancer Centre</institution>,<addr-line>Melbourne</addr-line>,<country>Australia</country>,</aff><aff id="af34"><label>34</label><institution>QIMR Berghofer Institute of Medical Research</institution>,<addr-line>Brisbane</addr-line>,<country>Australia</country>,</aff><aff id="af35"><label>35</label><addr-line>Department of Preventive Medicine</addr-line>,<institution>Kyushu University Faculty of Medical Sciences</institution>,<addr-line>Fukuoka</addr-line>,<country>Japan</country>,</aff><aff id="af36"><label>36</label><addr-line>Division of Epidemiology and Prevention</addr-line>,<institution>Aichi Cancer Center Research Institute</institution>,<addr-line>Nagoya</addr-line>,<country>Japan</country>,</aff><aff id="af37"><label>37</label><addr-line>Department of Breast Oncology</addr-line>,<institution>Aichi Cancer Center Hospital</institution>,<addr-line>Nagoya</addr-line>,<country>Japan</country>,</aff><aff id="af38"><label>38</label><addr-line>Department of Public Health & Occupational Medicine</addr-line>,<institution>Mie University Graduate School of Medicine</institution>,<addr-line>Tsu</addr-line>,<country>Japan</country>,</aff><aff id="af39"><label>39</label><addr-line>Human Genetics Division</addr-line>,<institution>Genome Institute of Singapore</institution>,<country>Singapore</country>,</aff><aff id="af40"><label>40</label><addr-line>Department of Medical Epidemiology and Biostatistics</addr-line>,</aff><aff id="af41"><label>41</label><addr-line>Department of Molecular Medicine and Surgery</addr-line>,</aff><aff id="af42"><label>42</label><addr-line>Department of Oncology and Pathology</addr-line>,<institution>Karolinska Institutet</institution>,<addr-line>Stockholm</addr-line>,<country>Sweden</country>,</aff><aff id="af43"><label>43</label><institution>German Cancer Consortium (DKTK)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af44"><label>44</label><addr-line>Saarland Cancer Registry, Saarbrücken</addr-line>,<country>Germany</country>,</aff><aff id="af45"><label>45</label><institution>Vesalius Research Center (VRC), VIB</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</aff><aff id="af46"><label>46</label><addr-line>Multidisciplinary Breast Center</addr-line>,<institution>University Hospital Gasthuisberg</institution>,<addr-line>Leuven</addr-line>,<country>Belgium</country>,</aff><aff id="af47"><label>47</label><addr-line>Department of Genetics and Pathology</addr-line>,<institution>Pomeranian Medical University</institution>,<addr-line>Szczecin</addr-line>,<country>Poland</country>,</aff><aff id="af48"><label>48</label><addr-line>Saw Swee Hock School of Public Health, Department of Surgery, Yong Loo Lin School of Medicine</addr-line>,</aff><aff id="af49"><label>49</label><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore and National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af50"><label>50</label><addr-line>Department of Surgery</addr-line>,<institution>National University Health System</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af51"><label>51</label><addr-line>Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim</addr-line>,<institution>Heidelberg University</institution>,<addr-line>Mannheim</addr-line>,<country>Germany</country>,</aff><aff id="af52"><label>52</label><addr-line>Division of Cancer Epidemiology and Genetics</addr-line>,<institution>National Cancer Institute</institution>,<addr-line>Rockville, MD</addr-line>,<country>USA</country>,</aff><aff id="af53"><label>53</label><addr-line>Department of Cancer Epidemiology and Prevention</addr-line>,<institution>M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology</institution>,<addr-line>Warsaw</addr-line>,<country>Poland</country>,</aff><aff id="af54"><label>54</label><addr-line>Copenhagen General Population Study, Herlev Hospital</addr-line>,</aff><aff id="af55"><label>55</label><addr-line>Department of Clinical Biochemistry, Herlev Hospital</addr-line>,</aff><aff id="af56"><label>56</label><addr-line>Department of Breast Surgery, Herlev Hospital</addr-line>,<institution>Copenhagen University Hospital</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</aff><aff id="af57"><label>57</label><addr-line>Faculty of Health and Medical Sciences</addr-line>,<institution>University of Copenhagen</institution>,<addr-line>Copenhagen</addr-line>,<country>Denmark</country>,</aff><aff id="af58"><label>58</label><addr-line>Department of Medical Oncology</addr-line>,</aff><aff id="af59"><label>59</label><addr-line>Department of Surgical Oncology</addr-line>,<institution>Family Cancer Clinic, Erasmus MC Cancer Institute</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af60"><label>60</label><addr-line>Department of Clinical Genetics</addr-line>,<institution>Erasmus University Medical Center</institution>,<addr-line>Rotterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af61"><label>61</label><institution>London School of Hygiene and Tropical Medicine</institution>,<addr-line>London</addr-line>,<country>UK</country>,</aff><aff id="af62"><label>62</label><addr-line>Division of Epidemiology, Department of Medicine</addr-line>,<institution>Vanderbilt University Medical Center</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</aff><aff id="af63"><label>63</label><addr-line>Institute for Medical Biometrics and Epidemiology</addr-line>,</aff><aff id="af64"><label>64</label><addr-line>Department of Cancer Epidemiology/Clinical Cancer Registry</addr-line>,<institution>University Clinic Hamburg-Eppendorf</institution>,<addr-line>Hamburg</addr-line>,<country>Germany</country>,</aff><aff id="af65"><label>65</label><addr-line>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu</addr-line>,<institution>University of Oulu, Northern Finland Laboratory Centre NordLab</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</aff><aff id="af66"><label>66</label><addr-line>Department of Oncology</addr-line>,</aff><aff id="af67"><label>67</label><addr-line>Department of Surgery</addr-line>,<institution>Oulu University Hospital</institution>,<institution>University of Oulu</institution>,<addr-line>Oulu</addr-line>,<country>Finland</country>,</aff><aff id="af68"><label>68</label><addr-line>CRUK/YCR Sheffield Cancer Research Centre, Department of Oncology</addr-line>,</aff><aff id="af69"><label>69</label><addr-line>Academic Unit of Pathology, Department of Neuroscience</addr-line>,<institution>University of Sheffield</institution>,<addr-line>Sheffield</addr-line>,<addr-line>South Yorkshire</addr-line>,<country>UK</country>,</aff><aff id="af70"><label>70</label><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>,<addr-line>Amsterdam</addr-line>,<country>The Netherlands</country>,</aff><aff id="af71"><label>71</label><addr-line>Department of Preventive Medicine</addr-line>,</aff><aff id="af72"><label>72</label><addr-line>Department of Surgery</addr-line>,<institution>Seoul National University College of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</aff><aff id="af73"><label>73</label><addr-line>Department of Biomedical Sciences</addr-line>,<institution>Seoul National University Graduate School</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</aff><aff id="af74"><label>74</label><addr-line>Cancer Research Institute</addr-line>,<institution>Seoul National University</institution>,<addr-line>Seoul</addr-line>,<country>Korea</country>,</aff><aff id="af75"><label>75</label><addr-line>Genomics Center</addr-line>,<institution>Centre Hospitalier Universitaire de Québec Research Center and Laval University</institution>,<addr-line>QC</addr-line>,<country>Canada</country>,</aff><aff id="af76"><label>76</label><addr-line>Department of Medicine</addr-line>,<institution>McGill University</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</aff><aff id="af77"><label>77</label><addr-line>Division of Clinical Epidemiology</addr-line>,<institution>McGill University Health Centre, Royal Victoria Hospital</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</aff><aff id="af78"><label>78</label><addr-line>Département de médecine sociale et préventive, Département de santé environnementale et santé au travail</addr-line>,<institution>Université de Montréal</institution>,<addr-line>Montreal, QC</addr-line>,<country>Canada</country>,</aff><aff id="af79"><label>79</label><addr-line>University Breast Center Franconia, Department of Gynecology and Obstetrics</addr-line>,</aff><aff id="af80"><label>80</label><addr-line>Institute of Human Genetics</addr-line>,<institution>University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>,<addr-line>Erlangen</addr-line>,<country>Germany</country>,</aff><aff id="af81"><label>81</label><addr-line>David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology</addr-line>,<institution>University of California at Los Angeles</institution>,<addr-line>CA</addr-line>,<country>USA</country>,</aff><aff id="af82"><label>82</label><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</aff><aff id="af83"><label>83</label><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori (INT)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af84"><label>84</label><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af85"><label>85</label><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia (IEO)</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af86"><label>86</label><addr-line>Division of Cancer Studies</addr-line>,<institution>NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas’ NHS Foundation Trust in partnership with King's College London</institution>,<addr-line>London</addr-line>,<country>UK</country>,</aff><aff id="af87"><label>87</label><addr-line>Wellcome Trust Centre for Human Genetics</addr-line>,</aff><aff id="af88"><label>88</label><addr-line>Oxford Biomedical Research Centre</addr-line>,<institution>University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</aff><aff id="af89"><label>89</label><addr-line>School of Medicine, Clinical Science Institute</addr-line>,<institution>National University of Ireland</institution>,<addr-line>Galway</addr-line>,<country>Ireland</country>,</aff><aff id="af90"><label>90</label><addr-line>Cancer Research Initiatives Foundation</addr-line>,<institution>Sime Darby Medical Centre</institution>,<addr-line>Subang Jaya</addr-line>,<country>Malaysia</country>,</aff><aff id="af91"><label>91</label><addr-line>Breast Cancer Research Unit</addr-line>,<institution>University Malaya Cancer Research Institute, University Malaya Medical Centre</institution>,<addr-line>Kuala Lumpur</addr-line>,<country>Malaysia</country>,</aff><aff id="af92"><label>92</label><addr-line>Singapore Eye Research Institute</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af93"><label>93</label><institution>Institute of Biomedical Sciences, Academia Sinica</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</aff><aff id="af94"><label>94</label><addr-line>College of Public Health</addr-line>,<institution>China Medical University</institution>,<addr-line>Taichong</addr-line>,<country>Taiwan</country>,</aff><aff id="af95"><label>95</label><institution>Tri-Service General Hospital</institution>,<addr-line>Taipei</addr-line>,<country>Taiwan</country>,</aff><aff id="af96"><label>96</label><addr-line>Cancer Center</addr-line>,</aff><aff id="af97"><label>97</label><addr-line>Department of Surgery</addr-line>,<institution>Kaohsiung Medical University Chung-Ho Memorial Hospital</institution>,<addr-line>Kaohsiung</addr-line>,<country>Taiwan</country>,</aff><aff id="af98"><label>98</label><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</aff><aff id="af99"><label>99</label><institution>University Paris-Sud, UMRS 1018</institution>,<addr-line>Villejuif</addr-line>,<country>France</country>,</aff><aff id="af100"><label>100</label><institution>Inserm (National Institute of Health and Medical Research)</institution>,<addr-line>U775, Paris</addr-line>,<country>France</country>,</aff><aff id="af101"><label>101</label><institution>Centre de Ressources Biologiques EPIGENETEC</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af102"><label>102</label><addr-line>Department of Medicine</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN</addr-line>,<country>USA</country>,</aff><aff id="af103"><label>103</label><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>University of Helsinki and Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</aff><aff id="af104"><label>104</label><addr-line>Department of Clinical Genetics</addr-line>,</aff><aff id="af105"><label>105</label><addr-line>Department of Oncology</addr-line>,<institution>Helsinki University Central Hospital</institution>,<addr-line>Helsinki</addr-line>,<country>Finland</country>,</aff><aff id="af106"><label>106</label><addr-line>Department of Preventive Medicine</addr-line>,<institution>Keck School of Medicine, University of Southern California</institution>,<addr-line>Los Angeles, CA</addr-line>,<country>USA</country>,</aff><aff id="af107"><label>107</label><addr-line>Department of Obstetrics and Gynaecology</addr-line>,</aff><aff id="af108"><label>108</label><addr-line>Department of Radiation Oncology</addr-line>,<institution>Hannover Medical School</institution>,<addr-line>Hannover</addr-line>,<country>Germany</country>,</aff><aff id="af109"><label>109</label><addr-line>Institute of Population Health</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country>,</aff><aff id="af110"><label>110</label><addr-line>Division of Health Sciences</addr-line>,<institution>Warwick Medical School</institution>,<addr-line>Coventry</addr-line>,<country>UK</country>,</aff><aff id="af111"><label>111</label><addr-line>Ministry of Public Health</addr-line>,<country>Thailand</country>,</aff><aff id="af112"><label>112</label><addr-line>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine</addr-line>,</aff><aff id="af113"><label>113</label><addr-line>Biocenter Kuopio</addr-line>,</aff><aff id="af114"><label>114</label><addr-line>School of Medicine, Institute of Clinical Medicine, Oncology</addr-line>,<institution>University of Eastern Finland</institution>,<addr-line>Kuopio</addr-line>,<country>Finland</country>,</aff><aff id="af115"><label>115</label><addr-line>Department of Clinical Pathology</addr-line>,</aff><aff id="af116"><label>116</label><addr-line>Cancer Center</addr-line>,<institution>Kuopio University Hospital</institution>,<addr-line>Kuopio</addr-line>,<country>Finland</country>,</aff><aff id="af117"><label>117</label><addr-line>Shanghai Center for Disease Control and Prevention, Shanghai</addr-line>,<country>China</country>,</aff><aff id="af118"><label>118</label><institution>Shanghai Cancer Institute</institution>,<addr-line>Shanghai</addr-line>,<country>China</country>,</aff><aff id="af119"><label>119</label><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,</aff><aff id="af120"><label>120</label><addr-line>Department of Health Sciences Research</addr-line>,</aff><aff id="af121"><label>121</label><institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</aff><aff id="af122"><label>122</label><addr-line>Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center</addr-line>,<institution>The Ohio State University</institution>,<addr-line>Columbus, OH</addr-line>,<country>USA</country>,</aff><aff id="af123"><label>123</label><addr-line>Molecular Diagnostics Laboratory, INRASTES</addr-line>,<institution>National Centre for Scientific Research ‘Demokritos’</institution>,<addr-line>Athens</addr-line>,<country>Greece</country>,</aff><aff id="af124"><label>124</label><institution>National Cancer Institute</institution>,<addr-line>Bangkok</addr-line>,<country>Thailand</country>,</aff><aff id="af125"><label>125</label><addr-line>Genetic Susceptibility Group</addr-line>,<institution>International Agency for Research on Cancer</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af126"><label>126</label><addr-line>University of Hawaii Cancer Center, Honolulu, HI</addr-line>,<country>USA</country>,</aff><aff id="af127"><label>127</label><addr-line>Department of Human Genetics</addr-line> and</aff><aff id="af128"><label>128</label><addr-line>Department of Surgical Oncology</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country></aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Berchuck</surname><given-names>Andrew</given-names></name></contrib><contrib contrib-type="author"><name><surname>Eeles</surname><given-names>Rosalind A.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Olama</surname><given-names>Ali Amin Al</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kote-Jarai</surname><given-names>Zsofia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Benlloch</surname><given-names>Sara</given-names></name></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis</given-names></name></contrib><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name></contrib><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Ken</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Andrew</given-names></name></contrib><contrib contrib-type="author"><name><surname>Dicks</surname><given-names>Ed</given-names></name></contrib><contrib contrib-type="author"><name><surname>Luccarini</surname><given-names>Craig</given-names></name></contrib><contrib contrib-type="author"><name><surname>Tessier</surname><given-names>Daniel C.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bacot</surname><given-names>Francois</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vincent</surname><given-names>Daniel</given-names></name></contrib><contrib contrib-type="author"><name><surname>LaBoissière</surname><given-names>Sylvie</given-names></name></contrib><contrib contrib-type="author"><name><surname>Robidoux</surname><given-names>Frederic</given-names></name></contrib><contrib contrib-type="author"><name><surname>Nielsen</surname><given-names>Sune F.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cunningham</surname><given-names>Julie M.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Windebank</surname><given-names>Sharon A.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hilker</surname><given-names>Christopher A.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Meyer</surname><given-names>Jeffrey</given-names></name></contrib><contrib contrib-type="author"><name><surname>Angelakos</surname><given-names>Maggie</given-names></name></contrib><contrib contrib-type="author"><name><surname>Maskiell</surname><given-names>Judi</given-names></name></contrib><contrib contrib-type="author"><name><surname>van der Schoot</surname><given-names>Ellen</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rutgers</surname><given-names>Emiel</given-names></name></contrib><contrib contrib-type="author"><name><surname>Verhoef</surname><given-names>Senno</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hogervorst</surname><given-names>Frans</given-names></name></contrib><contrib contrib-type="author"><name><surname>Boonyawongviroj</surname><given-names>Prat</given-names></name></contrib><contrib contrib-type="author"><name><surname>Siriwanarungsan</surname><given-names>Pornthep</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schrauder</surname><given-names>Michael</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rübner</surname><given-names>Matthias</given-names></name></contrib><contrib contrib-type="author"><name><surname>Oeser</surname><given-names>Sonja</given-names></name></contrib><contrib contrib-type="author"><name><surname>Landrith</surname><given-names>Silke</given-names></name></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Eileen</given-names></name></contrib><contrib contrib-type="author"><name><surname>Ryder-Mills</surname><given-names>Elaine</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sargus</surname><given-names>Kara</given-names></name></contrib><contrib contrib-type="author"><name><surname>McInerney</surname><given-names>Niall</given-names></name></contrib><contrib contrib-type="author"><name><surname>Colleran</surname><given-names>Gabrielle</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rowan</surname><given-names>Andrew</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Angela</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sohn</surname><given-names>Christof</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schneeweiß</surname><given-names>Andeas</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bugert</surname><given-names>Peter</given-names></name></contrib><contrib contrib-type="author"><name><surname>Álvarez</surname><given-names>Núria</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lacey</surname><given-names>James</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Sophia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Ma</surname><given-names>Huiyan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lu</surname><given-names>Yani</given-names></name></contrib><contrib contrib-type="author"><name><surname>Deapen</surname><given-names>Dennis</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pinder</surname><given-names>Rich</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Eunjung</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schumacher</surname><given-names>Fred</given-names></name></contrib><contrib contrib-type="author"><name><surname>Horn-Ross</surname><given-names>Pam</given-names></name></contrib><contrib contrib-type="author"><name><surname>Reynolds</surname><given-names>Peggy</given-names></name></contrib><contrib contrib-type="author"><name><surname>Nelson</surname><given-names>David</given-names></name></contrib><contrib contrib-type="author"><name><surname>Ziegler</surname><given-names>Hartwig</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wolf</surname><given-names>Sonja</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hermann</surname><given-names>Volker</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lo</surname><given-names>Wing-Yee</given-names></name></contrib><contrib contrib-type="author"><name><surname>Justenhoven</surname><given-names>Christina</given-names></name></contrib><contrib contrib-type="author"><name><surname>Baisch</surname><given-names>Christian</given-names></name></contrib><contrib contrib-type="author"><name><surname>Fischer</surname><given-names>Hans-Peter</given-names></name></contrib><contrib contrib-type="author"><name><surname>Brüning</surname><given-names>Thomas</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pesch</surname><given-names>Beate</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rabstein</surname><given-names>Sylvia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lotz</surname><given-names>Anne</given-names></name></contrib><contrib contrib-type="author"><name><surname>Harth</surname><given-names>Volker</given-names></name></contrib><contrib contrib-type="author"><name><surname>Heikkinen</surname><given-names>Tuomas</given-names></name></contrib><contrib contrib-type="author"><name><surname>Erkkilä</surname><given-names>Irja</given-names></name></contrib><contrib contrib-type="author"><name><surname>Aaltonen</surname><given-names>Kirsimari</given-names></name></contrib><contrib contrib-type="author"><name><surname>von Smitten</surname><given-names>Karl</given-names></name></contrib><contrib contrib-type="author"><name><surname>Antonenkova</surname><given-names>Natalia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hillemanns</surname><given-names>Peter</given-names></name></contrib><contrib contrib-type="author"><name><surname>Christiansen</surname><given-names>Hans</given-names></name></contrib><contrib contrib-type="author"><name><surname>Myöhänen</surname><given-names>Eija</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kemiläinen</surname><given-names>Helena</given-names></name></contrib><contrib contrib-type="author"><name><surname>Thorne</surname><given-names>Heather</given-names></name></contrib><contrib contrib-type="author"><name><surname>Niedermayr</surname><given-names>Eveline</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bowtell</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>G</given-names></name></contrib><contrib contrib-type="author"><name><surname>deFazio</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gertig</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Green</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Webb</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Green</surname><given-names>A.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Parsons</surname><given-names>P.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>N.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Webb</surname><given-names>P.</given-names></name></contrib><contrib 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contrib-type="author"><name><surname>Blom</surname><given-names>Jannet</given-names></name></contrib><contrib contrib-type="author"><name><surname>Crepin</surname><given-names>Ellen</given-names></name></contrib><contrib contrib-type="author"><name><surname>Nieuwlaat</surname><given-names>Anja</given-names></name></contrib><contrib contrib-type="author"><name><surname>Heemskerk</surname><given-names>Annette</given-names></name></contrib><contrib contrib-type="author"><name><surname>Higham</surname><given-names>Sue</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cross</surname><given-names>Simon</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cramp</surname><given-names>Helen</given-names></name></contrib><contrib contrib-type="author"><name><surname>Connley</surname><given-names>Dan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Balasubramanian</surname><given-names>Sabapathy</given-names></name></contrib><contrib contrib-type="author"><name><surname>Brock</surname><given-names>Ian</given-names></name></contrib><contrib contrib-type="author"><name><surname>Luccarini</surname><given-names>Craig</given-names></name></contrib><contrib contrib-type="author"><name><surname>Conroy</surname><given-names>Don</given-names></name></contrib><contrib contrib-type="author"><name><surname>Baynes</surname><given-names>Caroline</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chua</surname><given-names>Kimberley</given-names></name></contrib></contrib-group><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed at: Cancer Epidemiology Centre, Cancer Council Victoria, 615 St Kilda Road, Melbourne, VIC 3004, Australia. Tel: +61 395146293; Fax: +61 395146800; Email: <email>roger.milne@cancervic.org.au</email></corresp></author-notes><pub-date pub-type="ppub"><day>15</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>18</day><month>6</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>18</day><month>6</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>23</volume><issue>22</issue><fpage>6096</fpage><lpage>6111</lpage><history><date date-type="received"><day>1</day><month>1</month><year>2014</year></date><date date-type="rev-recd"><day>1</day><month>6</month><year>2014</year></date><date date-type="accepted"><day>16</day><month>6</month><year>2014</year></date></history><permissions><copyright-statement>© The Author 2014. Published by Oxford University Press.</copyright-statement><copyright-year>2014</copyright-year><license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="ddu311.pdf"></self-uri><abstract><p>Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: <italic>ATXN7-</italic>K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04–1.10, <italic>P</italic> = 2.9 × 10<sup>−6</sup>], <italic>AKAP9-</italic>M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03–1.07, <italic>P</italic> = 1.7 × 10<sup>−6</sup>) and <italic>NEK10-</italic>L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07–1.12, <italic>P</italic> = 5.1 × 10<sup>−17</sup>). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for <italic>ATXN7-</italic>K264R, OR = 1.07 (95% CI = 1.05–1.10, <italic>P</italic> = 1.0 × 10<sup>−8</sup>); for <italic>AKAP9-</italic>M463I, OR = 1.05 (95% CI = 1.04–1.07, <italic>P</italic> = 2.0 × 10<sup>−10</sup>). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.</p></abstract></article-meta></front><body><sec sec-type="intro" id="s1"><title>INTRODUCTION</title><p>Few common non-synonymous genetic variants have been implicated in breast cancer susceptibility. Earlier candidate–gene association studies focused heavily on such variants but generally failed to produce robust findings (<xref rid="DDU311C1" ref-type="bibr">1</xref>). Agnostic approaches using genome-wide panels of single-nucleotide polymorphisms (SNPs) have been much more successful, having identified >70 common breast cancer susceptibility loci to date (<xref rid="DDU311C2" ref-type="bibr">2</xref>–<xref rid="DDU311C21" ref-type="bibr">21</xref>). No missense variants have been clearly shown to explain these observed associations with marker SNPs. The fact that the effect sizes detected by these large-scale studies were relatively small [for the vast majority, the associated odds ratio (OR) was <1.20] suggests that most, if not all, of the earlier candidate-gene studies were underpowered to detect associations of a realistic magnitude.</p><p>The Wellcome Trust Case-Control Consortium (WTCCC) previously conducted an association study of 14 436 non-synonymous SNPs (nsSNPs) across the genome, using a custom array genotyped in 1053 breast cancer cases and 1500 controls (<xref rid="DDU311C22" ref-type="bibr">22</xref>). No clear associations were identified. However, no replication stage was carried out and the study had <15% power to detect a per-allele OR of 1.20 for even the most common variants at a Bonferroni-corrected nominal significance threshold of 3.5 × 10<sup>−6</sup>. One of the SNPs on the array has previously been studied by Breast Cancer Association Consortium (BCAC); we found evidence that <italic>AKAP9</italic>-M463I (rs6964587) was associated with breast cancer risk, with a recessive model appearing to be the best fit, although evidence of association (<italic>P</italic> = 0.001) did not reach genome-wide statistical significance (<xref rid="DDU311C23" ref-type="bibr">23</xref>).</p><p>We aimed to assess the most promising association signals from the WTCCC study in a much larger BCAC case–control study that formed part of the Collaborative Oncological Gene-Environment Study (COGS). COGS is a multi-consortium project that seeks to identify common variants contributing to susceptibility to breast, ovarian and prostate cancer (<uri xlink:type="simple" xlink:href="http://www.nature.com/icogs/primer/cogs-project-and-design-of-the-icogs-array/">http://www.nature.com/icogs/primer/cogs-project-and-design-of-the-icogs-array/</uri>). It is based on genotyping case–control samples using a custom iSelect SNP genotyping array (iCOGS). The principal criterion for inclusion of SNPs on this array by BCAC was statistical evidence of association from a combined analysis of nine genome-wide association studies (GWASs); the analysis of these SNPs selected from GWAS, identifying >40 novel breast cancer susceptibility loci (<xref rid="DDU311C2" ref-type="bibr">2</xref>–<xref rid="DDU311C4" ref-type="bibr">4</xref>), has been completed. We also included on the iCOGS array, and successfully genotyped, 41 nsSNPs from the WTCCC study, including rs6964587, for which the strongest evidence of association had been observed. In the present analysis, we attempted to replicate these associations using the BCAC component of COGS, comprising 53 835 female breast cancer cases and 50 156 controls (Table <xref ref-type="table" rid="DDU311TB1">1</xref>).
<table-wrap id="DDU311TB1" position="float"><label>Table 1.</label><caption><p>BCAC studies contributing cases and controls to COGS</p></caption><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="left" span="1"></col><col align="char" char="." span="1"></col><col align="char" char="." span="1"></col><col align="char" char="." span="1"></col><col align="char" char="." span="1"></col></colgroup><thead><tr><th align="left" rowspan="1" colspan="1">Study</th><th align="left" rowspan="1" colspan="1">Country</th><th align="left" rowspan="1" colspan="1">Controls</th><th align="left" rowspan="1" colspan="1">Cases</th><th align="left" rowspan="1" colspan="1">ER+</th><th align="left" rowspan="1" colspan="1">ER−</th></tr></thead><tbody><tr><td colspan="6" rowspan="1">European women</td></tr><tr><td rowspan="1" colspan="1"> Australian Breast Cancer Family Study<sup>a</sup> (ABCFS)</td><td rowspan="1" colspan="1">Australia</td><td rowspan="1" colspan="1">551</td><td rowspan="1" colspan="1">790</td><td rowspan="1" colspan="1">456</td><td rowspan="1" colspan="1">261</td></tr><tr><td rowspan="1" colspan="1"> Amsterdam Breast Cancer Study (ABCS)</td><td rowspan="1" colspan="1">Netherlands</td><td rowspan="1" colspan="1">1429</td><td rowspan="1" colspan="1">1325</td><td rowspan="1" colspan="1">420</td><td rowspan="1" colspan="1">153</td></tr><tr><td rowspan="1" colspan="1"> Bavarian Breast Cancer Cases and Controls (BBCC)</td><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">458</td><td rowspan="1" colspan="1">564</td><td rowspan="1" colspan="1">460</td><td rowspan="1" colspan="1">83</td></tr><tr><td rowspan="1" colspan="1"> British Breast Cancer Study (BBCS)</td><td rowspan="1" colspan="1">UK</td><td rowspan="1" colspan="1">1397</td><td rowspan="1" colspan="1">1554</td><td rowspan="1" colspan="1">507</td><td rowspan="1" colspan="1">114</td></tr><tr><td rowspan="1" colspan="1"> Breast Cancer In Galway Genetic Study (BIGGS)</td><td rowspan="1" colspan="1">Ireland</td><td rowspan="1" colspan="1">719</td><td rowspan="1" colspan="1">836</td><td rowspan="1" colspan="1">495</td><td rowspan="1" colspan="1">154</td></tr><tr><td rowspan="1" colspan="1"> Breast Cancer Study of the University Clinic Heidelberg (BSUCH)</td><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">954</td><td rowspan="1" colspan="1">852</td><td rowspan="1" colspan="1">499</td><td rowspan="1" colspan="1">154</td></tr><tr><td rowspan="1" colspan="1"> CECILE Breast Cancer Study (CECILE)</td><td rowspan="1" colspan="1">France</td><td rowspan="1" colspan="1">999</td><td rowspan="1" colspan="1">1019</td><td rowspan="1" colspan="1">797</td><td rowspan="1" colspan="1">144</td></tr><tr><td rowspan="1" colspan="1"> Copenhagen General Population Study (CGPS)</td><td rowspan="1" colspan="1">Denmark</td><td rowspan="1" colspan="1">4086</td><td rowspan="1" colspan="1">2901</td><td rowspan="1" colspan="1">1919</td><td rowspan="1" colspan="1">357</td></tr><tr><td rowspan="1" colspan="1"> Spanish National Cancer Research Centre Breast Cancer Study (CNIO-BCS)</td><td rowspan="1" colspan="1">Spain</td><td rowspan="1" colspan="1">876</td><td rowspan="1" colspan="1">902</td><td rowspan="1" colspan="1">242</td><td rowspan="1" colspan="1">88</td></tr><tr><td rowspan="1" colspan="1"> California Teachers Study (CTS)</td><td rowspan="1" colspan="1">USA</td><td rowspan="1" colspan="1">71</td><td rowspan="1" colspan="1">68</td><td rowspan="1" colspan="1">0</td><td rowspan="1" colspan="1">17</td></tr><tr><td rowspan="1" colspan="1"> ESTHER Breast Cancer Study (ESTHER)</td><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">502</td><td rowspan="1" colspan="1">478</td><td rowspan="1" colspan="1">304</td><td rowspan="1" colspan="1">98</td></tr><tr><td rowspan="1" colspan="1"> Gene Environment Interaction and Breast Cancer in Germany (GENICA)</td><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">427</td><td rowspan="1" colspan="1">465</td><td rowspan="1" colspan="1">328</td><td rowspan="1" colspan="1">119</td></tr><tr><td rowspan="1" colspan="1"> Helsinki Breast Cancer Study (HEBCS)</td><td rowspan="1" colspan="1">Finland</td><td rowspan="1" colspan="1">1234</td><td rowspan="1" colspan="1">1664</td><td rowspan="1" colspan="1">1295</td><td rowspan="1" colspan="1">237</td></tr><tr><td rowspan="1" colspan="1"> Hannover-Minsk Breast Cancer Study (HMBCS)</td><td rowspan="1" colspan="1">Belarus</td><td rowspan="1" colspan="1">130</td><td rowspan="1" colspan="1">690</td><td rowspan="1" colspan="1">37</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1"> Karolinska Breast Cancer Study (KARBAC)</td><td rowspan="1" colspan="1">Sweden</td><td rowspan="1" colspan="1">662</td><td rowspan="1" colspan="1">722</td><td rowspan="1" colspan="1">338</td><td rowspan="1" colspan="1">63</td></tr><tr><td rowspan="1" colspan="1"> Kuopio Breast Cancer Project (KBCP)</td><td rowspan="1" colspan="1">Finland</td><td rowspan="1" colspan="1">251</td><td rowspan="1" colspan="1">445</td><td rowspan="1" colspan="1">304</td><td rowspan="1" colspan="1">97</td></tr><tr><td rowspan="1" colspan="1"> kConFab/Australian Ovarian Cancer Study (kConFab/AOCS)</td><td rowspan="1" colspan="1">Australia</td><td rowspan="1" colspan="1">897</td><td rowspan="1" colspan="1">613</td><td rowspan="1" colspan="1">162</td><td rowspan="1" colspan="1">59</td></tr><tr><td rowspan="1" colspan="1"> Leuven Multidisciplinary Breast Centre (LMBC)</td><td rowspan="1" colspan="1">Belgium</td><td rowspan="1" colspan="1">1388</td><td rowspan="1" colspan="1">2671</td><td rowspan="1" colspan="1">2071</td><td rowspan="1" colspan="1">379</td></tr><tr><td rowspan="1" colspan="1"> Mammary Carcinoma Risk Factor Investigation (MARIE)</td><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">1778</td><td rowspan="1" colspan="1">1818</td><td rowspan="1" colspan="1">1349</td><td rowspan="1" colspan="1">399</td></tr><tr><td rowspan="1" colspan="1"> Milan Breast Cancer Study Group (MBCSG)</td><td rowspan="1" colspan="1">Italy</td><td rowspan="1" colspan="1">400</td><td rowspan="1" colspan="1">488</td><td rowspan="1" colspan="1">149</td><td rowspan="1" colspan="1">42</td></tr><tr><td rowspan="1" colspan="1"> Mayo Clinic Breast Cancer Study (MCBCS)</td><td rowspan="1" colspan="1">USA</td><td rowspan="1" colspan="1">1931</td><td rowspan="1" colspan="1">1862</td><td rowspan="1" colspan="1">1486</td><td rowspan="1" colspan="1">295</td></tr><tr><td rowspan="1" colspan="1"> Melbourne Collaborative Cohort Study (MCCS)</td><td rowspan="1" colspan="1">Australia</td><td rowspan="1" colspan="1">511</td><td rowspan="1" colspan="1">614</td><td rowspan="1" colspan="1">352</td><td rowspan="1" colspan="1">119</td></tr><tr><td rowspan="1" colspan="1"> Multi-ethnic Cohort (MEC)</td><td rowspan="1" colspan="1">USA</td><td rowspan="1" colspan="1">741</td><td rowspan="1" colspan="1">731</td><td rowspan="1" colspan="1">415</td><td rowspan="1" colspan="1">87</td></tr><tr><td rowspan="1" colspan="1"> Montreal Gene-Environment Breast Cancer Study (MTLGEBCS)</td><td rowspan="1" colspan="1">Canada</td><td rowspan="1" colspan="1">436</td><td rowspan="1" colspan="1">489</td><td rowspan="1" colspan="1">421</td><td rowspan="1" colspan="1">64</td></tr><tr><td rowspan="1" colspan="1"> Norwegian Breast Cancer Study (NBCS)</td><td rowspan="1" colspan="1">Norway</td><td rowspan="1" colspan="1">70</td><td rowspan="1" colspan="1">22</td><td rowspan="1" colspan="1">0</td><td rowspan="1" colspan="1">22</td></tr><tr><td rowspan="1" colspan="1"> Oulu Breast Cancer Study (OBCS)</td><td rowspan="1" colspan="1">Finland</td><td rowspan="1" colspan="1">414</td><td rowspan="1" colspan="1">507</td><td rowspan="1" colspan="1">407</td><td rowspan="1" colspan="1">100</td></tr><tr><td rowspan="1" colspan="1"> Ontario Familial Breast Cancer Registry<sup>b</sup> (OFBCR)</td><td rowspan="1" colspan="1">Canada</td><td rowspan="1" colspan="1">511</td><td rowspan="1" colspan="1">1175</td><td rowspan="1" colspan="1">630</td><td rowspan="1" colspan="1">268</td></tr><tr><td rowspan="1" colspan="1"> Leiden University Medical Centre Breast Cancer Study (ORIGO)</td><td rowspan="1" colspan="1">Netherlands</td><td rowspan="1" colspan="1">327</td><td rowspan="1" colspan="1">357</td><td rowspan="1" colspan="1">211</td><td rowspan="1" colspan="1">70</td></tr><tr><td rowspan="1" colspan="1"> NCI Polish Breast Cancer Study (PBCS)</td><td rowspan="1" colspan="1">Poland</td><td rowspan="1" colspan="1">424</td><td rowspan="1" colspan="1">519</td><td rowspan="1" colspan="1">519</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1"> Karolinska Mammography Project for Risk Prediction of Breast Cancer (pKARMA)</td><td rowspan="1" colspan="1">Sweden</td><td rowspan="1" colspan="1">5,537</td><td rowspan="1" colspan="1">5434</td><td rowspan="1" colspan="1">3672</td><td rowspan="1" colspan="1">702</td></tr><tr><td rowspan="1" colspan="1"> Rotterdam Breast Cancer Study (RBCS)</td><td rowspan="1" colspan="1">Netherlands</td><td rowspan="1" colspan="1">699</td><td rowspan="1" colspan="1">664</td><td rowspan="1" colspan="1">368</td><td rowspan="1" colspan="1">131</td></tr><tr><td rowspan="1" colspan="1"> Singapore and Sweden Breast Cancer Study (SASBAC)</td><td rowspan="1" colspan="1">Sweden</td><td rowspan="1" colspan="1">1378</td><td rowspan="1" colspan="1">1163</td><td rowspan="1" colspan="1">663</td><td rowspan="1" colspan="1">144</td></tr><tr><td rowspan="1" colspan="1"> Sheffield Breast Cancer Study (SBCS)</td><td rowspan="1" colspan="1">UK</td><td rowspan="1" colspan="1">848</td><td rowspan="1" colspan="1">843</td><td rowspan="1" colspan="1">377</td><td rowspan="1" colspan="1">105</td></tr><tr><td rowspan="1" colspan="1"> Study of Epidemiology and Risk factors in Cancer Heredity (SEARCH)</td><td rowspan="1" colspan="1">UK</td><td rowspan="1" colspan="1">8069</td><td rowspan="1" colspan="1">9347</td><td rowspan="1" colspan="1">5160</td><td rowspan="1" colspan="1">1181</td></tr><tr><td rowspan="1" colspan="1"> Städtisches Klinikum Karlsruhe Deutsches Krebsforschungszentrum Study (SKKDKFZS)</td><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">29</td><td rowspan="1" colspan="1">136</td><td rowspan="1" colspan="1">0</td><td rowspan="1" colspan="1">136</td></tr><tr><td rowspan="1" colspan="1"> Szczecin Breast Cancer Study (SZBCS)</td><td rowspan="1" colspan="1">Poland</td><td rowspan="1" colspan="1">315</td><td rowspan="1" colspan="1">365</td><td rowspan="1" colspan="1">165</td><td rowspan="1" colspan="1">60</td></tr><tr><td rowspan="1" colspan="1"> Triple Negative Breast Cancer Consortium Study (TNBCC)</td><td rowspan="1" colspan="1">Various</td><td rowspan="1" colspan="1">542</td><td rowspan="1" colspan="1">881</td><td rowspan="1" colspan="1">0</td><td rowspan="1" colspan="1">881</td></tr><tr><td rowspan="1" colspan="1"> UK Breakthrough Generations Study (UKBGS)</td><td rowspan="1" colspan="1">UK</td><td rowspan="1" colspan="1">470</td><td rowspan="1" colspan="1">476</td><td rowspan="1" colspan="1">96</td><td rowspan="1" colspan="1">22</td></tr><tr><td colspan="6" rowspan="1">Asian women</td></tr><tr><td rowspan="1" colspan="1"> Asian Cancer Project (ACP)</td><td rowspan="1" colspan="1">Thailand</td><td rowspan="1" colspan="1">636</td><td rowspan="1" colspan="1">423</td><td rowspan="1" colspan="1">92</td><td rowspan="1" colspan="1">53</td></tr><tr><td rowspan="1" colspan="1"> Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC)</td><td rowspan="1" colspan="1">Japan</td><td rowspan="1" colspan="1">1376</td><td rowspan="1" colspan="1">694</td><td rowspan="1" colspan="1">395</td><td rowspan="1" colspan="1">139</td></tr><tr><td rowspan="1" colspan="1"> Los Angeles County Asian-American Breast Cancer Case-Control (LAABC)</td><td rowspan="1" colspan="1">USA</td><td rowspan="1" colspan="1">990</td><td rowspan="1" colspan="1">812</td><td rowspan="1" colspan="1">528</td><td rowspan="1" colspan="1">138</td></tr><tr><td rowspan="1" colspan="1"> Malaysian Breast Cancer Genetic Study (MYBRCA)</td><td rowspan="1" colspan="1">Malaysia</td><td rowspan="1" colspan="1">610</td><td rowspan="1" colspan="1">770</td><td rowspan="1" colspan="1">422</td><td rowspan="1" colspan="1">291</td></tr><tr><td rowspan="1" colspan="1"> Shanghai Breast Cancer Genetic Study (SBCGS)</td><td rowspan="1" colspan="1">China</td><td rowspan="1" colspan="1">892</td><td rowspan="1" colspan="1">848</td><td rowspan="1" colspan="1">510</td><td rowspan="1" colspan="1">276</td></tr><tr><td rowspan="1" colspan="1"> Seoul Breast Cancer Study (SEBCS)</td><td rowspan="1" colspan="1">South Korea</td><td rowspan="1" colspan="1">1129</td><td rowspan="1" colspan="1">1162</td><td rowspan="1" colspan="1">657</td><td rowspan="1" colspan="1">375</td></tr><tr><td rowspan="1" colspan="1"> Singapore Breast Cancer Cohort (SGBCC)</td><td rowspan="1" colspan="1">Singapore</td><td rowspan="1" colspan="1">502</td><td rowspan="1" colspan="1">533</td><td rowspan="1" colspan="1">272</td><td rowspan="1" colspan="1">108</td></tr><tr><td rowspan="1" colspan="1"> IARC-Thai Breast Cancer (TBCS)</td><td rowspan="1" colspan="1">Thailand</td><td rowspan="1" colspan="1">253</td><td rowspan="1" colspan="1">138</td><td rowspan="1" colspan="1">26</td><td rowspan="1" colspan="1">26</td></tr><tr><td rowspan="1" colspan="1"> Taiwanese Breast Cancer Study (TWBCS)</td><td rowspan="1" colspan="1">Taiwan</td><td rowspan="1" colspan="1">236</td><td rowspan="1" colspan="1">889</td><td rowspan="1" colspan="1">460</td><td rowspan="1" colspan="1">204</td></tr><tr><td rowspan="1" colspan="1">African-American women</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> Southern Community Cohort Study (SCCS)</td><td rowspan="1" colspan="1">USA</td><td rowspan="1" colspan="1">680</td><td rowspan="1" colspan="1">679</td><td rowspan="1" colspan="1">0</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1"> Nashville Breast Health Study (NBHS)</td><td rowspan="1" colspan="1">USA</td><td rowspan="1" colspan="1">252</td><td rowspan="1" colspan="1">437</td><td rowspan="1" colspan="1">199</td><td rowspan="1" colspan="1">222</td></tr><tr><td rowspan="1" colspan="1">Total</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">50 156</td><td rowspan="1" colspan="1">53 835</td><td rowspan="1" colspan="1">30 635</td><td rowspan="1" colspan="1">9120</td></tr></tbody></table><table-wrap-foot><fn id="TN1"><p>BCAC, Breast Cancer Association Consortium; COGS, Collaborative Oncological Gene-Environment Study; ER+, estrogen receptor-positive cases; ER−, estrogen receptor-negative cases.</p></fn><fn id="TN2"><p><sup>a</sup>Australian site of the Breast Cancer Family Registry.</p></fn><fn id="TN3"><p><sup>b</sup>Ontario site of the Breast Cancer Family Registry.</p></fn></table-wrap-foot></table-wrap></p></sec><sec sec-type="results" id="s2"><title>RESULTS</title><p>After quality control (QC), all genotyped SNPs in the present analysis had overall call rates >95% and duplicate and HapMap sample concordance >98%. No evidence of departure from Hardy–Weinberg equilibrium was observed in controls overall (<italic>P</italic> ≥ 0.11 for Europeans), and no strong evidence was seen in controls from any single study (<italic>P</italic> ≥ 2.3 × 10<sup>−4</sup>). Results from analysis of main effects for Europeans (46 450 cases and 42 600 controls) are summarized in Table <xref ref-type="table" rid="DDU311TB2">2</xref>. No notable between-study heterogeneity was observed for any SNP (<italic>I</italic><sup>2</sup> ≤ 33%). Nominally statistically significant associations (<italic>P</italic> < 0.05) were observed for seven SNPs; however, for four of these the evidence of association was weak (<italic>P</italic> ≥ 0.012) and compatible with chance association, given the number of SNPs considered. Stronger evidence of association was observed for three SNPs: rs10510592 (L513S) in <italic>NEK10</italic> [per-allele odds ratio (OR) = 1.10, 95% CI = 1.07–1.12; <italic>P</italic> = 5.1 × 10<sup>−17</sup>], rs6964587 (M463I) in <italic>AKAP9</italic> (per-allele OR = 1.05; 95% CI = 1.03–1.07; <italic>P</italic> = 1.7 × 10<sup>−6</sup>) and rs1053338 (K264R) in <italic>ATXN7</italic> (per-allele OR = 1.07; 95% CI = 1.04–1.10; <italic>P</italic> = 2.9 × 10<sup>−6</sup>). Subsequent analyses were focused on these three variants (see <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddu311/-/DC1">Supplementary Material, figure</ext-link>).
<table-wrap id="DDU311TB2" position="float"><label>Table 2.</label><caption><p>Summary results from COGS-BCAC for European women</p></caption><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col><col align="char" char="." span="1"></col><col align="char" char="." span="1"></col></colgroup><thead><tr><th align="left" rowspan="2" colspan="1">Original SNP (nsC)</th><th align="left" rowspan="2" colspan="1">Gene</th><th align="left" rowspan="2" colspan="1">Surrogate SNP<sup>a</sup></th><th align="left" rowspan="2" colspan="1">Alleles<sup>b</sup></th><th align="left" rowspan="2" colspan="1">MAF</th><th align="left" rowspan="2" colspan="1">pHWE</th><th align="center" colspan="3" rowspan="1">OR (95% CI) <italic>P</italic>-value<sup><sup>c</sup></sup><hr></hr></th><th align="left" rowspan="2" colspan="1">P-het<sup>d</sup></th><th align="left" rowspan="2" colspan="1"><italic>I</italic><sup>2</sup> (%)<sup>d</sup></th></tr><tr><th align="left" rowspan="1" colspan="1">Aa</th><th align="left" rowspan="1" colspan="1">aa</th><th align="left" rowspan="1" colspan="1">Per-a-allele</th></tr></thead><tbody><tr><td rowspan="1" colspan="1">rs10415312 (E171K)</td><td rowspan="1" colspan="1"><italic>OR7C1</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.09</td><td rowspan="1" colspan="1">0.36</td><td rowspan="1" colspan="1">0.98 (0.95, 1.02) 0.31</td><td rowspan="1" colspan="1">1.02 (0.87, 1.17) 0.81</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.43</td><td rowspan="1" colspan="1">0.38</td><td rowspan="1" colspan="1">5.05</td></tr><tr><td rowspan="1" colspan="1">rs10494217 (H50N)</td><td rowspan="1" colspan="1"><italic>TBX15</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">CA</td><td rowspan="1" colspan="1">0.19</td><td rowspan="1" colspan="1">0.28</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.94</td><td rowspan="1" colspan="1">0.98 (0.91, 1.05) 0.60</td><td rowspan="1" colspan="1">1.00 (0.97, 1.02) 0.81</td><td rowspan="1" colspan="1">0.06</td><td rowspan="1" colspan="1">27.7</td></tr><tr><td rowspan="1" colspan="1">rs10510592 (L513S)</td><td rowspan="1" colspan="1"><italic>NEK10</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.25</td><td rowspan="1" colspan="1">0.26</td><td rowspan="1" colspan="1">1.11 (1.08, 1.14) 1.4 × 10<sup>−12</sup></td><td rowspan="1" colspan="1">1.18 (1.12, 1.25) 1.5 × 10<sup>−9</sup></td><td rowspan="1" colspan="1">1.10 (1.07, 1.12) 5.1 × 10<sup>−17</sup></td><td rowspan="1" colspan="1">0.53</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs1053338 (K264R)</td><td rowspan="1" colspan="1"><italic>ATXN7</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.13</td><td rowspan="1" colspan="1">0.53</td><td rowspan="1" colspan="1">1.07 (1.03, 1.10) 5.6 × 10<sup>−5</sup></td><td rowspan="1" colspan="1">1.14 (1.04, 1.26) 0.0073</td><td rowspan="1" colspan="1">1.07 (1.04, 1.10) 2.9 × 10<sup>−6</sup></td><td rowspan="1" colspan="1">0.23</td><td rowspan="1" colspan="1">13.7</td></tr><tr><td rowspan="1" colspan="1">rs11078738 (L621P)</td><td rowspan="1" colspan="1"><italic>PFAS</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.24</td><td rowspan="1" colspan="1">0.41</td><td rowspan="1" colspan="1">1.01 (0.98, 1.03) 0.73</td><td rowspan="1" colspan="1">0.96 (0.90, 1.02) 0.15</td><td rowspan="1" colspan="1">0.99 (0.97, 1.01) 0.50</td><td rowspan="1" colspan="1">0.27</td><td rowspan="1" colspan="1">11.1</td></tr><tr><td rowspan="1" colspan="1">rs12051468 (S105G)</td><td rowspan="1" colspan="1"><italic>CRISPLD2</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.43</td><td rowspan="1" colspan="1">0.39</td><td rowspan="1" colspan="1">1.02 (0.99, 1.05) 0.25</td><td rowspan="1" colspan="1">1.01 (0.97, 1.05) 0.66</td><td rowspan="1" colspan="1">1.01 (0.99, 1.03) 0.53</td><td rowspan="1" colspan="1">0.34</td><td rowspan="1" colspan="1">7.10</td></tr><tr><td rowspan="1" colspan="1">rs12256835 (H1759Q)</td><td rowspan="1" colspan="1"><italic>C10orf112</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AC</td><td rowspan="1" colspan="1">0.18</td><td rowspan="1" colspan="1">0.25</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.71</td><td rowspan="1" colspan="1">1.05 (0.97, 1.13) 0.25</td><td rowspan="1" colspan="1">1.01 (0.99, 1.04) 0.35</td><td rowspan="1" colspan="1">0.12</td><td rowspan="1" colspan="1">21.8</td></tr><tr><td rowspan="1" colspan="1">rs1265096 (E34K)</td><td rowspan="1" colspan="1"><italic>PSORS1C1</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.09</td><td rowspan="1" colspan="1">0.39</td><td rowspan="1" colspan="1">1.02 (0.98, 1.06) 0.26</td><td rowspan="1" colspan="1">0.86 (0.74, 1.01) 0.061</td><td rowspan="1" colspan="1">1.00 (0.97, 1.04) 0.80</td><td rowspan="1" colspan="1">0.84</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs12894584 (intronic)</td><td rowspan="1" colspan="1"><italic>NAA30</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.29</td><td rowspan="1" colspan="1">0.31</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.96</td><td rowspan="1" colspan="1">0.98 (0.93, 1.03) 0.43</td><td rowspan="1" colspan="1">0.99 (0.97, 1.02) 0.60</td><td rowspan="1" colspan="1">0.65</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs13096522 (non-coding)</td><td rowspan="1" colspan="1"><italic>ARL6</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">TA</td><td rowspan="1" colspan="1">0.20</td><td rowspan="1" colspan="1">0.31</td><td rowspan="1" colspan="1">1.02 (0.99, 1.05) 0.13</td><td rowspan="1" colspan="1">0.99 (0.92, 1.06) 0.79</td><td rowspan="1" colspan="1">1.01 (0.99, 1.04) 0.34</td><td rowspan="1" colspan="1">0.77</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs1801197 (L447P)</td><td rowspan="1" colspan="1"><italic>CALCR</italic></td><td rowspan="1" colspan="1">rs2023778, <italic>r</italic><sup>2</sup> = 1.0</td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.24</td><td rowspan="1" colspan="1">0.30</td><td rowspan="1" colspan="1">1.02 (0.99, 1.04) 0.27</td><td rowspan="1" colspan="1">1.02 (0.96, 1.08) 0.53</td><td rowspan="1" colspan="1">1.01 (0.99, 1.04) 0.26</td><td rowspan="1" colspan="1">0.85</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs2107732 (V53I)</td><td rowspan="1" colspan="1"><italic>CCM2</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.09</td><td rowspan="1" colspan="1">0.48</td><td rowspan="1" colspan="1">0.99 (0.96, 1.03) 0.64</td><td rowspan="1" colspan="1">0.98 (0.84, 1.14) 0.80</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.61</td><td rowspan="1" colspan="1">0.63</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs2230018 (T726K)</td><td rowspan="1" colspan="1"><italic>KDM6A</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">CA</td><td rowspan="1" colspan="1">0.12</td><td rowspan="1" colspan="1">0.43</td><td rowspan="1" colspan="1">0.98 (0.95, 1.01) 0.23</td><td rowspan="1" colspan="1">1.07 (0.96, 1.19) 0.23</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.65</td><td rowspan="1" colspan="1">0.03</td><td rowspan="1" colspan="1">33.1</td></tr><tr><td rowspan="1" colspan="1">rs2272955 (M96T)</td><td rowspan="1" colspan="1"><italic>WFDC8</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.05</td><td rowspan="1" colspan="1">0.31</td><td rowspan="1" colspan="1">1.02 (0.98, 1.07) 0.36</td><td rowspan="1" colspan="1">0.82 (0.64, 1.05) 0.12</td><td rowspan="1" colspan="1">1.01 (0.97, 1.05) 0.72</td><td rowspan="1" colspan="1">0.34</td><td rowspan="1" colspan="1">7.30</td></tr><tr><td rowspan="1" colspan="1">rs2282542 (V1365M)</td><td rowspan="1" colspan="1"><italic>CEP192</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.12</td><td rowspan="1" colspan="1">0.42</td><td rowspan="1" colspan="1">0.97 (0.94, 1.01) 0.12</td><td rowspan="1" colspan="1">0.90 (0.80, 1.00) 0.050</td><td rowspan="1" colspan="1">0.97 (0.94, 1.00) 0.025</td><td rowspan="1" colspan="1">0.07</td><td rowspan="1" colspan="1">26.7</td></tr><tr><td rowspan="1" colspan="1">rs2285374<sup><sup>e</sup></sup> (K889R)</td><td rowspan="1" colspan="1"><italic>VPS11</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.39</td><td rowspan="1" colspan="1">0.32</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.52</td><td rowspan="1" colspan="1">0.99 (0.95, 1.03) 0.67</td><td rowspan="1" colspan="1">0.99 (0.98, 1.01) 0.58</td><td rowspan="1" colspan="1">0.60</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs2286587 (R110H)</td><td rowspan="1" colspan="1"><italic>MXRA7</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.39</td><td rowspan="1" colspan="1">0.50</td><td rowspan="1" colspan="1">0.97 (0.95, 1.00) 0.083</td><td rowspan="1" colspan="1">0.97 (0.94, 1.02) 0.29</td><td rowspan="1" colspan="1">0.99 (0.97, 1.01) 0.15</td><td rowspan="1" colspan="1">0.08</td><td rowspan="1" colspan="1">25.7</td></tr><tr><td rowspan="1" colspan="1">rs2291533 (Q253H)</td><td rowspan="1" colspan="1"><italic>NIF3L1BP1</italic></td><td rowspan="1" colspan="1">rs7614311, <italic>r</italic><sup>2</sup> = 0.94</td><td rowspan="1" colspan="1">AC</td><td rowspan="1" colspan="1">0.19</td><td rowspan="1" colspan="1">0.34</td><td rowspan="1" colspan="1">1.03 (1.00, 1.06) 0.041</td><td rowspan="1" colspan="1">1.05 (0.98, 1.13) 0.14</td><td rowspan="1" colspan="1">1.03 (1.00, 1.05) 0.018</td><td rowspan="1" colspan="1">0.31</td><td rowspan="1" colspan="1">9.30</td></tr><tr><td rowspan="1" colspan="1">rs2298083 (V854I)</td><td rowspan="1" colspan="1"><italic>SMG7</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.11</td><td rowspan="1" colspan="1">0.17</td><td rowspan="1" colspan="1">0.99 (0.95, 1.02) 0.39</td><td rowspan="1" colspan="1">1.02 (0.90, 1.15) 0.78</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.54</td><td rowspan="1" colspan="1">0.71</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs2735018 (intronic)</td><td rowspan="1" colspan="1"><italic>HLA-G</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GC</td><td rowspan="1" colspan="1">0.10</td><td rowspan="1" colspan="1">0.32</td><td rowspan="1" colspan="1">0.97 (0.94, 1.01) 0.13</td><td rowspan="1" colspan="1">0.94 (0.82, 1.07) 0.36</td><td rowspan="1" colspan="1">0.97 (0.94, 1.00) 0.086</td><td rowspan="1" colspan="1">0.38</td><td rowspan="1" colspan="1">5.30</td></tr><tr><td rowspan="1" colspan="1">rs2822558 (S199N)</td><td rowspan="1" colspan="1"><italic>ABCC13</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.15</td><td rowspan="1" colspan="1">0.27</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.52</td><td rowspan="1" colspan="1">1.01 (0.92, 1.10) 0.89</td><td rowspan="1" colspan="1">1.01 (0.98, 1.03) 0.56</td><td rowspan="1" colspan="1">0.60</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs2853699 (A27G)</td><td rowspan="1" colspan="1"><italic>CCR8</italic></td><td rowspan="1" colspan="1">rs12107527, <italic>r</italic><sup>2</sup> = 1.0</td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.30</td><td rowspan="1" colspan="1">0.37</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.64</td><td rowspan="1" colspan="1">1.01 (0.97, 1.06) 0.60</td><td rowspan="1" colspan="1">1.01 (0.99, 1.03) 0.53</td><td rowspan="1" colspan="1">0.26</td><td rowspan="1" colspan="1">11.8</td></tr><tr><td rowspan="1" colspan="1">rs2856705 (non-coding)</td><td rowspan="1" colspan="1"><italic>HLA-DQA2</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.09</td><td rowspan="1" colspan="1">0.24</td><td rowspan="1" colspan="1">1.00 (0.96, 1.03) 0.87</td><td rowspan="1" colspan="1">1.07 (0.93, 1.22) 0.35</td><td rowspan="1" colspan="1">1.00 (0.97, 1.04) 0.79</td><td rowspan="1" colspan="1">0.07</td><td rowspan="1" colspan="1">26.5</td></tr><tr><td rowspan="1" colspan="1">rs2879097 (R79C)</td><td rowspan="1" colspan="1"><italic>CISD3</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.22</td><td rowspan="1" colspan="1">0.50</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.83</td><td rowspan="1" colspan="1">0.97 (0.91, 1.04) 0.38</td><td rowspan="1" colspan="1">0.99 (0.97, 1.01) 0.49</td><td rowspan="1" colspan="1">0.20</td><td rowspan="1" colspan="1">15.7</td></tr><tr><td rowspan="1" colspan="1">rs315675 (L396H)</td><td rowspan="1" colspan="1"><italic>ZCCHC4</italic></td><td rowspan="1" colspan="1">rs13149511, <italic>r</italic><sup>2</sup> = 1.0</td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.11</td><td rowspan="1" colspan="1">0.37</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.96</td><td rowspan="1" colspan="1">0.97 (0.85, 1.10) 0.61</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.79</td><td rowspan="1" colspan="1">0.99</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs365990 (V1101A)</td><td rowspan="1" colspan="1"><italic>MYH6</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.35</td><td rowspan="1" colspan="1">0.20</td><td rowspan="1" colspan="1">1.04 (1.01, 1.07) 0.014</td><td rowspan="1" colspan="1">1.04 (1.00, 1.09) 0.052</td><td rowspan="1" colspan="1">1.03 (1.01, 1.05) 0.012</td><td rowspan="1" colspan="1">0.13</td><td rowspan="1" colspan="1">20.4</td></tr><tr><td rowspan="1" colspan="1">rs3742801 (E368K)</td><td rowspan="1" colspan="1"><italic>ABCD4</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.36</td><td rowspan="1" colspan="1">0.21</td><td rowspan="1" colspan="1">1.00 (0.97, 1.02) 0.76</td><td rowspan="1" colspan="1">1.02 (0.98, 1.06) 0.37</td><td rowspan="1" colspan="1">1.01 (0.99, 1.03) 0.57</td><td rowspan="1" colspan="1">0.10</td><td rowspan="1" colspan="1">23.2</td></tr><tr><td rowspan="1" colspan="1">rs3815768 (A298T)</td><td rowspan="1" colspan="1"><italic>ELL2</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.26</td><td rowspan="1" colspan="1">0.38</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.90</td><td rowspan="1" colspan="1">1.04 (0.98, 1.10) 0.16</td><td rowspan="1" colspan="1">1.01 (0.99, 1.03) 0.40</td><td rowspan="1" colspan="1">0.47</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs3873283 (non-coding)</td><td rowspan="1" colspan="1"><italic>HCG9</italic></td><td rowspan="1" colspan="1">rs9260734, <italic>r</italic><sup>2</sup> = 1.0</td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.15</td><td rowspan="1" colspan="1">0.28</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.51</td><td rowspan="1" colspan="1">0.95 (0.87, 1.04) 0.24</td><td rowspan="1" colspan="1">0.98 (0.96, 1.01) 0.25</td><td rowspan="1" colspan="1">0.54</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs3891175 (non-coding)</td><td rowspan="1" colspan="1"><italic>HLA-DQB1</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.21</td><td rowspan="1" colspan="1">0.32</td><td rowspan="1" colspan="1">0.99 (0.96, 1.02) 0.64</td><td rowspan="1" colspan="1">0.97 (0.91, 1.03) 0.30</td><td rowspan="1" colspan="1">0.99 (0.97, 1.01) 0.34</td><td rowspan="1" colspan="1">0.22</td><td rowspan="1" colspan="1">14.2</td></tr><tr><td rowspan="1" colspan="1">rs3997854 (non-coding)</td><td rowspan="1" colspan="1"><italic>HLA-DQA2</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AC</td><td rowspan="1" colspan="1">0.13</td><td rowspan="1" colspan="1">0.31</td><td rowspan="1" colspan="1">0.98 (0.95, 1.02) 0.33</td><td rowspan="1" colspan="1">0.93 (0.84, 1.03) 0.18</td><td rowspan="1" colspan="1">0.98 (0.95, 1.01) 0.14</td><td rowspan="1" colspan="1">0.73</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs4128458 (K323E)</td><td rowspan="1" colspan="1"><italic>LAD1</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.50</td><td rowspan="1" colspan="1">0.27</td><td rowspan="1" colspan="1">0.99 (0.96, 1.03) 0.75</td><td rowspan="1" colspan="1">0.97 (0.94, 1.01) 0.18</td><td rowspan="1" colspan="1">0.99 (0.97, 1.01) 0.18</td><td rowspan="1" colspan="1">0.10</td><td rowspan="1" colspan="1">23.7</td></tr><tr><td rowspan="1" colspan="1">rs4986790 (D299G)</td><td rowspan="1" colspan="1"><italic>TLR4</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.06</td><td rowspan="1" colspan="1">0.41</td><td rowspan="1" colspan="1">0.98 (0.94, 1.02) 0.38</td><td rowspan="1" colspan="1">0.96 (0.77, 1.20) 0.73</td><td rowspan="1" colspan="1">0.98 (0.94, 1.02) 0.35</td><td rowspan="1" colspan="1">0.40</td><td rowspan="1" colspan="1">4.12</td></tr><tr><td rowspan="1" colspan="1">rs5744751 (A252V)</td><td rowspan="1" colspan="1"><italic>POLE</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.11</td><td rowspan="1" colspan="1">0.29</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.57</td><td rowspan="1" colspan="1">1.02 (0.91, 1.15) 0.75</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.52</td><td rowspan="1" colspan="1">0.87</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs6032538 (H36D)</td><td rowspan="1" colspan="1"><italic>WFDC3</italic></td><td rowspan="1" colspan="1">rs399672, <italic>r</italic><sup>2</sup> = 1.0</td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.28</td><td rowspan="1" colspan="1">0.11</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.82</td><td rowspan="1" colspan="1">0.98 (0.93, 1.03) 0.49</td><td rowspan="1" colspan="1">0.99 (0.97, 1.01) 0.55</td><td rowspan="1" colspan="1">0.11</td><td rowspan="1" colspan="1">22.0</td></tr><tr><td rowspan="1" colspan="1">rs6964587 (M463I)</td><td rowspan="1" colspan="1"><italic>AKAP9</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GT</td><td rowspan="1" colspan="1">0.39</td><td rowspan="1" colspan="1">0.29</td><td rowspan="1" colspan="1">1.04 (1.01, 1.07) 0.0098</td><td rowspan="1" colspan="1">1.11 (1.06, 1.15) 1.6 × 10<sup>−6</sup></td><td rowspan="1" colspan="1">1.05 (1.03, 1.07) 1.7 × 10<sup>−6</sup></td><td rowspan="1" colspan="1">0.18</td><td rowspan="1" colspan="1">16.7</td></tr><tr><td rowspan="1" colspan="1">rs7158731 (L118P)</td><td rowspan="1" colspan="1"><italic>ZNF839</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.18</td><td rowspan="1" colspan="1">0.33</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.89</td><td rowspan="1" colspan="1">1.01 (0.94, 1.10) 0.71</td><td rowspan="1" colspan="1">1.00 (0.98, 1.03) 0.75</td><td rowspan="1" colspan="1">0.16</td><td rowspan="1" colspan="1">18.7</td></tr><tr><td rowspan="1" colspan="1">rs7454108 (non-coding)</td><td rowspan="1" colspan="1"><italic>HLA-DQA2</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.11</td><td rowspan="1" colspan="1">0.26</td><td rowspan="1" colspan="1">0.96 (0.93, 1.00) 0.034</td><td rowspan="1" colspan="1">0.98 (0.87, 1.10) 0.73</td><td rowspan="1" colspan="1">0.97 (0.94, 1.00) 0.047</td><td rowspan="1" colspan="1">0.71</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs7863265 (F10L)</td><td rowspan="1" colspan="1"><italic>STRBP</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GC</td><td rowspan="1" colspan="1">0.34</td><td rowspan="1" colspan="1">0.40</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.48</td><td rowspan="1" colspan="1">1.00 (0.96, 1.05) 0.98</td><td rowspan="1" colspan="1">1.00 (0.98, 1.02) 0.75</td><td rowspan="1" colspan="1">0.43</td><td rowspan="1" colspan="1">2.42</td></tr><tr><td rowspan="1" colspan="1">rs8059973 (intronic)</td><td rowspan="1" colspan="1"><italic>MGC3101</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">GA</td><td rowspan="1" colspan="1">0.16</td><td rowspan="1" colspan="1">0.18</td><td rowspan="1" colspan="1">1.00 (0.97, 1.03) 0.83</td><td rowspan="1" colspan="1">1.00 (0.92, 1.08) 0.92</td><td rowspan="1" colspan="1">1.00 (0.98, 1.03) 0.91</td><td rowspan="1" colspan="1">0.55</td><td rowspan="1" colspan="1">0</td></tr><tr><td rowspan="1" colspan="1">rs9891699 (P19S)</td><td rowspan="1" colspan="1"><italic>PFAS</italic></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">AG</td><td rowspan="1" colspan="1">0.19</td><td rowspan="1" colspan="1">0.48</td><td rowspan="1" colspan="1">1.01 (0.98, 1.04) 0.59</td><td rowspan="1" colspan="1">0.99 (0.92, 1.07) 0.87</td><td rowspan="1" colspan="1">1.00 (0.98, 1.03) 0.75</td><td rowspan="1" colspan="1">0.61</td><td rowspan="1" colspan="1">0</td></tr></tbody></table><table-wrap-foot><fn id="TN4"><p>COGS, Collaborative Oncological Gene-environment Study; BCAC, Breast Cancer Association Consortium; nsC, non-synonymous amino acid change; MAF, minor allele frequency for controls; pHWE, <italic>P</italic>-value for compliance with Hardy–Weinberg equilibrium for controls; OR, odds ratio, where A is the common allele, a is the rare allele and both Aa and aa are compared with AA genotypes; CI, confidence interval; P-het, <italic>P</italic>-value for between-study homogeneity.</p></fn><fn id="TN5"><p><sup>a</sup>SNP genotyped as a surrogate for the original SNP when the latter failed on design; <italic>r</italic><sup>2</sup> value given is that for LD between the surrogate and the original SNP; results in columns to the right are for the surrogate SNP.</p></fn><fn id="TN6"><p><sup>b</sup>Minor allele listed second.</p></fn><fn id="TN7"><p><sup>c</sup>Based on the Wald statistic for the genotype-specific estimates; based on the likelihood ratio test for the per-allele estimate.</p></fn><fn id="TN8"><p><sup>d</sup>Applying the per-allele (log-additive) model.</p></fn><fn id="TN9"><p><sup>e</sup>rs2285374 has been merged into rs15818.</p></fn></table-wrap-foot></table-wrap></p><p>SNP rs10510592 (L513S) in <italic>NEK10</italic> is located 83 kb from a known breast cancer susceptibility GWAS hit, rs4973768 (<xref rid="DDU311C9" ref-type="bibr">9</xref>), which was also genotyped on iCOGS; the two SNPs are in modest linkage disequilibrium (LD; <italic>r</italic><sup>2</sup> = 0.36). The evidence of association using the same dataset was stronger for rs4973768 (<italic>P</italic> = 3.0 × 10<sup>−22</sup>). A multivariate analysis including both SNPs resulted in substantial attenuation in the OR for rs10510592 (per-allele OR = 1.05, 95% CI = 1.02–1.07, <italic>P</italic> = 0.0010), while the evidence of association for rs4973768 remained strong (<italic>P</italic> = 1.0 × 10<sup>−8</sup>). The variant rs10510592 was included on iCOGS, both as part of the present study and as part of a fine-mapping study of 899 SNPs in an 881 kb region of 3p24. More detailed multivariate analyses of these fine-mapping SNPs, complemented by functional analysis, will be required to pinpoint the underlying causal variant(s).</p><p>The nsSNP in <italic>AKAP9</italic>, rs6964587, had been previously studied by the BCAC (<xref rid="DDU311C23" ref-type="bibr">23</xref>,<xref rid="DDU311C24" ref-type="bibr">24</xref>). The dataset used in the previous analysis overlapped partially with the present study (14 423 cases and 12 785 controls were in both datasets). Table <xref ref-type="table" rid="DDU311TB3">3</xref> presents results from both analyses after removing overlapping samples from the latter. In the present study, we observed strong independent evidence of replication of the reported association (<italic>P</italic> = 9.2 × 10<sup>−7</sup>). After combining published and new data from European women (55 445 cases and 62 668 controls), the per-T-allele OR estimate was 1.05 (95% CI = 1.04–1.07, <italic>P</italic> = 2.5 × 10<sup>−9</sup>) and the OR relative to the GG genotype was 1.04 (95% CI = 1.01–1.07, <italic>P</italic> = 0.0034) for GT and 1.12 (95% CI = 1.08–1.16, <italic>P</italic> = 1.1 × 10<sup>−9</sup>) for TT. The per-allele OR estimates and 95% CI to two decimal places were unchanged when analyses were repeated excluding 3734 cases with carcinoma <italic>in situ</italic> or unknown invasiveness (<italic>P</italic> = 3.7 × 10<sup>−9</sup>). The above analyses were adjusted only for study as principal components could not be determined for published data; however, when adjustment was made for principal components for the iCOGS data alone (setting the principal components to zero for other samples), the results were similar (per-T-allele OR = 1.05, 95% CI = 1.03–1.07, <italic>P</italic> = 1.3 × 10<sup>−8</sup>). All subsequent analyses for this SNP included published and new data, unless otherwise specified. The genotype-specific ORs were consistent with a log-additive (per-allele) model; a recessive model as previously proposed could be rejected (OR = 1.05, 95% CI = 1.03–1.06, <italic>P</italic> = 8.4 × 10<sup>−8</sup>; <italic>P</italic> = 0.0034 compared with a two-parameter model). No notable between-study heterogeneity was observed (<italic>I</italic><sup>2</sup> = 32%, Fig. <xref ref-type="fig" rid="DDU311F1">1</xref>).
<table-wrap id="DDU311TB3" position="float"><label>Table 3.</label><caption><p>AKAP9-M463I (rs6964587) and risk of breast cancer based on published and new BCAC data</p></caption><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="char" char="(" span="1"></col><col align="char" char="(" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col></colgroup><thead><tr><th align="left" rowspan="1" colspan="1">Group/genotype</th><th align="left" rowspan="1" colspan="1">Controls, <italic>N</italic> (%)</th><th align="left" rowspan="1" colspan="1">Cases, <italic>N</italic> (%)</th><th align="left" rowspan="1" colspan="1">OR<sup><sup>a</sup></sup> (95% CI)</th><th align="left" rowspan="1" colspan="1"><italic>P</italic>-value</th></tr></thead><tbody><tr><td colspan="5" rowspan="1">European women</td></tr><tr><td colspan="5" rowspan="1"> Published data (21 studies)</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">12 650 (38)</td><td rowspan="1" colspan="1">8952 (37)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">15 785 (47)</td><td rowspan="1" colspan="1">11 400 (47)</td><td rowspan="1" colspan="1">1.01 (0.97–1.05)</td><td rowspan="1" colspan="1">0.58</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">4941 (15)</td><td rowspan="1" colspan="1">3802 (16)</td><td rowspan="1" colspan="1">1.09 (1.03–1.15)</td><td rowspan="1" colspan="1">0.0022</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">1.04 (1.01–1.06)</td><td rowspan="1" colspan="1">0.0058</td></tr><tr><td colspan="5" rowspan="1"> New COGS data (40 studies<sup><sup>b</sup></sup>)</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">11 044 (38)</td><td rowspan="1" colspan="1">11 206 (36)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">13 858 (47)</td><td rowspan="1" colspan="1">14 956 (48)</td><td rowspan="1" colspan="1">1.06 (1.02–1.10)</td><td rowspan="1" colspan="1">0.0031</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">4390 (15)</td><td rowspan="1" colspan="1">5129 (16)</td><td rowspan="1" colspan="1">1.13 (1.07–1.19)</td><td rowspan="1" colspan="1">1.6 × 10<sup>−6</sup></td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">1.06 (1.04–1.09)</td><td rowspan="1" colspan="1">9.2 × 10<sup>−7</sup></td></tr><tr><td colspan="5" rowspan="1">Asian women</td></tr><tr><td colspan="5" rowspan="1"> Published data (two studies)</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">1514 (69)</td><td rowspan="1" colspan="1">1746 (67)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">615 (28)</td><td rowspan="1" colspan="1">763 (29)</td><td rowspan="1" colspan="1">1.06 (0.93–1.20)</td><td rowspan="1" colspan="1">0.58</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">63 (2.9)</td><td rowspan="1" colspan="1">86 (3.3)</td><td rowspan="1" colspan="1">1.16 (0.83–1.62)</td><td rowspan="1" colspan="1">0.42</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">1.07 (0.96–1.19)</td><td rowspan="1" colspan="1">0.37</td></tr><tr><td colspan="5" rowspan="1"> New COGS data (nine studies<sup><sup>c</sup></sup>)</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">4209 (65)</td><td rowspan="1" colspan="1">3716 (65)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">2012 (31)</td><td rowspan="1" colspan="1">1764 (31)</td><td rowspan="1" colspan="1">1.02 (0.94–1.11)</td><td rowspan="1" colspan="1">0.58</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">241 (3.7)</td><td rowspan="1" colspan="1">199 (3.5)</td><td rowspan="1" colspan="1">1.03 (0.84–1.26)</td><td rowspan="1" colspan="1">0.79</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">1.02 (0.95–1.09)</td><td rowspan="1" colspan="1">0.57</td></tr><tr><td colspan="5" rowspan="1">African-American women</td></tr><tr><td colspan="5" rowspan="1"> New COGS data (two studies)</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">213 (23)</td><td rowspan="1" colspan="1">299 (27)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">480 (52)</td><td rowspan="1" colspan="1">531 (48)</td><td rowspan="1" colspan="1">0.80 (0.64–0.99)</td><td rowspan="1" colspan="1">0.04</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">236 (25)</td><td rowspan="1" colspan="1">285 (26)</td><td rowspan="1" colspan="1">0.89 (0.70–1.15)</td><td rowspan="1" colspan="1">0.38</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">0.95 (0.84–1.07)</td><td rowspan="1" colspan="1">0.39</td></tr></tbody></table><table-wrap-foot><fn id="TN10"><p>BCAC, Breast Cancer Association Consortium; OR, odds ratio; CI, confidence interval.</p></fn><fn id="TN11"><p><sup>a</sup>OR estimated by logistic regression, adjusted for study (published data); adjusted for study and principal components (new data).</p></fn><fn id="TN12"><p><sup>b</sup>Nineteen studies of European women contributed both published data and new data.</p></fn><fn id="TN13"><p><sup>c</sup>Two studies of Asian women contributed both published data and new data.</p></fn></table-wrap-foot></table-wrap><fig id="DDU311F1" position="float"><label>Figure 1.</label><caption><p>Per-allele OR estimates for <italic>AKAP9</italic>-M463I (rs6964587) for European women by study, based on published data and new data from the Breast Cancer Association Consoritum. MAF, minor allele frequency; pHWE, <italic>P</italic>-value for departure from Hardy–Weinberg equilibrium; CI, confidence interval.</p></caption><graphic xlink:href="ddu31101"></graphic></fig></p><p>We also had access to the original combined data from nine GWASs used to select the majority of the BCAC SNPs on iCOGS. These included either measured or imputed genotypes for rs6964587 (<xref rid="DDU311C4" ref-type="bibr">4</xref>). Data for 7938 cases and 11 809 controls had not been included in the analyses conducted to date. The estimated OR based on a meta-analysis of these GWAS data was 1.05 per T-allele (95% CI = 1.01–1.10, <italic>P</italic> = 0.027). This model was a better fit than a recessive model (OR = 1.07, 95% CI = 1.00–1.14, <italic>P</italic> = 0.043). When these GWAS data were combined with the iCOGS and previously published data, the estimated per-allele OR for rs6964587 was 1.05 (95% CI = 1.04–1.07, <italic>P</italic> = 2.0 × 10<sup>−10</sup>).</p><p>The T allele of rs6964587 was less frequent in Asians (0.19) and more frequent in African-American women (0.51) than in Europeans (0.39). While there was no statistically significant evidence of association in either Asian or African-American women, the estimated OR in Asians (after combining available data, OR = 1.05, 95% CI = 0.99–1.11) was similar to that in Europeans, and in both non-European populations the 95% CIs included the OR estimate in Europeans (Table <xref ref-type="table" rid="DDU311TB3">3</xref>). Based on data for European women, there was evidence of association for both ER-positive (OR = 1.06, 95% CI = 1.04–1.08, <italic>P</italic> = 3.2 × 10<sup>−8</sup>) and ER-negative breast cancer (OR = 1.04, 95% CI = 1.01–1.07, <italic>P</italic> = 0.019; <italic>P</italic> = 0.47 for difference in OR by ER disease).There was no evidence of differences in the OR by age (<italic>P</italic> = 0.58), family history (<italic>P</italic> = 0.74) or any of the other tumor characteristics considered (PR status, HER2 status, axillary node status, grade, size or morphology; <italic>P</italic> ≥ 0.084).</p><p>There were no other SNPs genotyped on iCOGS within 500 kb of rs6964587 that gave stronger evidence of association in Europeans, based on the BCAC data. However, there were 133 SNPs that gave stronger evidence based on imputed genotypes (all with imputation <italic>r</italic><sup>2</sup> > 0.90); an intronic single-base deletion in <italic>AKAP9</italic> (chr7:91681597), located 51 kb from rs6964587, was the best imputed hit (<italic>P</italic> = 4.4 × 10<sup>−7</sup>, compared with 1.7 × 10<sup>−6</sup> for rs6964587 in the same dataset). This variant was also well imputed in Asians and African Americans (imputation <italic>r</italic><sup>2</sup> = 0.99), but no independent evidence of association was observed in either (<italic>P</italic> > 0.35). There were three genotyped and 63 imputed (with imputation <italic>r</italic><sup>2</sup> > 0.8) SNPs with <italic>P</italic> below an arbitrary cut-off of 0.001 in Asian women, but the evidence of association for these SNPs in European women was weak (<italic>P</italic> ≥ 0.0029) relative to that for rs6964587.</p><p>Results for nsSNP rs1053338 in <italic>ATXN7</italic> are presented in Table <xref ref-type="table" rid="DDU311TB4">4</xref>. The per-allele OR estimate for Europeans was 1.07 (95% CI = 1.04–1.10, <italic>P</italic> = 2.9 × 10<sup>−6</sup>) before, and 1.06 (95% CI = 1.03–1.09 <italic>P</italic> = 1.7 × 10<sup>−5</sup>) after, excluding 3290 cases with carcinoma <italic>in situ</italic> or unknown invasiveness. No notable between-study heterogeneity was observed (<italic>I</italic><sup>2</sup> = 14%, Fig. <xref ref-type="fig" rid="DDU311F2">2</xref>). The estimated OR based on a meta-analysis of data for the independent 8800 cases and 11 809 controls from the nine GWASs was 1.07 per T-allele (95% CI = 1.01–1.14, <italic>P</italic> = 0.034). A combined analysis of BCAC and GWAS data gave an estimate of 1.07 (95% CI = 1.05–1.10, <italic>P</italic> = 1.0 × 10<sup>−8</sup>).
<table-wrap id="DDU311TB4" position="float"><label>Table 4.</label><caption><p>ATXN7-K264R (rs1053338) and risk of breast cancer based on BCAC data</p></caption><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="char" char="(" span="1"></col><col align="char" char="(" span="1"></col><col align="left" span="1"></col><col align="left" span="1"></col></colgroup><thead><tr><th align="left" rowspan="1" colspan="1">Group/genotype</th><th align="left" rowspan="1" colspan="1">Controls, <italic>N</italic> (%)</th><th align="left" rowspan="1" colspan="1">Cases, <italic>N</italic> (%)</th><th align="left" rowspan="1" colspan="1">OR<sup><sup>a</sup></sup> (95% CI)</th><th align="left" rowspan="1" colspan="1"><italic>P</italic></th></tr></thead><tbody><tr><td colspan="5" rowspan="1">European women</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">32 062 (75)</td><td rowspan="1" colspan="1">34 467 (74)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">9764 (23)</td><td rowspan="1" colspan="1">11 056 (24)</td><td rowspan="1" colspan="1">1.07 (1.03–1.10)</td><td rowspan="1" colspan="1">5.6 × 10<sup>−5</sup></td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">773 (1.8)</td><td rowspan="1" colspan="1">925 (2.0)</td><td rowspan="1" colspan="1">1.14 (1.04–1.26)</td><td rowspan="1" colspan="1">0.0073</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">1.07 (1.04–1.10)</td><td rowspan="1" colspan="1">2.9 × 10<sup>−6</sup></td></tr><tr><td colspan="5" rowspan="1">Asian women</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">4978 (75)</td><td rowspan="1" colspan="1">4600 (73)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">1534 (23)</td><td rowspan="1" colspan="1">1536 (25)</td><td rowspan="1" colspan="1">1.03 (0.94–1.12)</td><td rowspan="1" colspan="1">0.55</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">112 (1.7)</td><td rowspan="1" colspan="1">132 (2.1)</td><td rowspan="1" colspan="1">1.07 (0.82–1.39)</td><td rowspan="1" colspan="1">0.63</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">1.03 (0.96–1.11)</td><td rowspan="1" colspan="1">0.46</td></tr><tr><td colspan="5" rowspan="1">African-American women</td></tr><tr><td rowspan="1" colspan="1"> GG</td><td rowspan="1" colspan="1">873 (94)</td><td rowspan="1" colspan="1">1045 (94)</td><td rowspan="1" colspan="1">1.00</td><td rowspan="1" colspan="1"></td></tr><tr><td rowspan="1" colspan="1"> GT</td><td rowspan="1" colspan="1">59 (6.3)</td><td rowspan="1" colspan="1">70 (6.3)</td><td rowspan="1" colspan="1">0.95 (0.66–1.37)</td><td rowspan="1" colspan="1">0.80</td></tr><tr><td rowspan="1" colspan="1"> TT</td><td rowspan="1" colspan="1">0 (0)</td><td rowspan="1" colspan="1">1 (0.0)</td><td rowspan="1" colspan="1">–</td><td rowspan="1" colspan="1">–</td></tr><tr><td rowspan="1" colspan="1"> Per T-allele</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">0.97 (0.68–1.40)</td><td rowspan="1" colspan="1">0.89</td></tr></tbody></table><table-wrap-foot><fn id="TN14"><p>COGS, Collaborative Oncological Gene-Environment Study; OR, odds ratio; CI, confidence interval.</p></fn><fn id="TN15"><p><sup>a</sup>OR estimated by logistic regression, adjusted for study and principal components.</p></fn></table-wrap-foot></table-wrap><fig id="DDU311F2" position="float"><label>Figure 2.</label><caption><p>Per-allele OR estimates for <italic>ATXN7</italic>-K264R (rs1053338) for European women by study, based on data from the Breast Cancer Association Consortium. MAF, minor allele frequency; pHWE, <italic>P</italic>-value for departure from Hardy–Weinberg equilibrium; CI, confidence interval.</p></caption><graphic xlink:href="ddu31102"></graphic></fig></p><p>The minor T allele of rs1053338 has a similar frequency (0.13) in European and Asian women, but was much less frequent in African Americans (0.032). The results for Asian and African-American women were consistent with those for Europeans (<italic>P-</italic>het = 0.77; Table <xref ref-type="table" rid="DDU311TB4">4</xref>). There was no evidence of a differential association with the risk of disease subtypes defined by ER status in Europeans (<italic>P</italic> = 0.62); the estimated per-allele OR was 1.07 (95% CI = 1.04–1.11, <italic>P</italic> = 1.2 × 10<sup>−5</sup>) and 1.05 (95% CI = 1.00–1.11, <italic>P</italic> = 0.073) for ER-positive and ER-negative disease, respectively. Similar results by ER status were observed in Asian women. No evidence of heterogeneity in the OR by age was found (<italic>P</italic> = 0.11). We observed some evidence of a trend (<italic>P</italic> = 0.0075) in the associated effect size by grade, with the association only being apparent for Grade 2 and Grade 3 disease [OR = 0.98 (95% CI = 0.93–1.04) for Grade 1 disease, 1.08 (95% CI = 1.04–1.13) for Grade 2 and 1.08 (95% CI = 1.03–1.14) for Grade 3 disease]. The trend of increasing relative risk of higher grade disease was also observed for Asian women (<italic>P</italic> = 0.0017). There was no evidence of heterogeneity in the OR by family history (<italic>P</italic> = 0.66), or for any of the other tumor characteristics considered (PR status, HER2 status, axillary node status, size or morphology; <italic>P</italic> ≥ 0.074).</p><p>We assessed associations with other SNPs within 500 kb either side of rs1053338, both genotyped and imputed, based on BCAC iCOGS data. Slightly stronger evidence of association was observed in Europeans for one other genotyped SNP: rs3821902, an intronic variant in <italic>ATXN7</italic> located 26 kb away (OR = 1.08, 95% CI = 1.05–1.11, <italic>P</italic> = 7.4 × 10<sup>−8</sup>). For Asians and African Americans the <italic>P</italic>-value for this SNP was 0.48 and 0.54, respectively. Two other imputed SNPs (rs2241822 and rs6445387, imputation <italic>r</italic><sup>2</sup> ≥ 0.98), both within 5 kb of rs1053338 and both intronic to <italic>ATXN7</italic>, had a slightly lower <italic>P</italic>-value (<italic>P</italic> = 5.1 × 10<sup>−8</sup>). All three SNPs were strongly correlated with rs1053338 (<italic>r</italic><sup>2</sup> ≥ 0.83). No independent evidence was observed for these SNPs in the other ethnic groups (<italic>P</italic> > 0.31). There was only one imputed SNP with <italic>P</italic> < 0.01 in Asian women (rs9837159; <italic>P</italic> = 0.0093); the evidence of association for this SNP in European women was weak (<italic>P</italic> = 0.078).</p></sec><sec sec-type="discussion" id="s3"><title>DISCUSSION</title><p>In this study of 41 non-synonymous coding SNPs, selected based on prior evidence of association with breast cancer, we have identified a novel susceptibility locus at 3p21 based on SNP rs1053338 (K264R) in <italic>ATXN7</italic>. We have also confirmed for the first time at genome-wide statistical significance, that <italic>AKAP9-</italic>rs6964587 (M463I) at 7q21 is a marker of breast cancer susceptibility in European women. In both cases, a nominally statistically significant result was observed in a meta-analysis of independent data from nine GWASs, with very similar OR estimates to those found in the BCAC COGS dataset. Both nsSNPs are associated with relatively small per-allele effects (estimated OR = 1.07 and 1.05, respectively) and appeared to confer susceptibility to ER-positive and ER-negative disease. The potentially differential association of rs1053338 with risk of breast cancer by grade requires confirmation.</p><p>That independent confirmation of these associations was not observed for Asian and African-American women may be explained by the limited power to detect these effect sizes. We estimate that at 5% statistical significance our study had <50% power to detect the ORs estimated for European women for these SNPs in Asian women and much lower power (<15%) for African-American women. However, weaker associations in non-European populations have been observed for many breast cancer susceptibility loci and may reflect differences in LD patterns, genetic background and/or the distribution of interacting environmental risk factors.</p><p>The nsSNP giving the strongest signal in our study was rs10510592 (L513S) in <italic>NEK10</italic>, located within an established breast cancer susceptibility region. However, substantially stronger evidence of association with risk was observed for the originally reported SNP at this locus (rs4973768), and further analyses revealed that the association with rs10510592 was substantially attenuated after adjusting for rs4973768. Hence, if there is a single causal variant in this region, it is unlikely to be rs10510592, despite the fact that this SNP is an amino acid substitution with strong evidence of association with disease risk (<italic>P</italic> = 5.1 × 10<sup>−17</sup>). Further work, including <italic>in vitro</italic> analyses to functionally characterize candidate variants, will be required identify to the biological mechanism behind this clear association.</p><p>The same phenomenon was observed for the two nsSNPs marking novel breast cancer susceptibility loci that we have identified in the present study. In both cases, the nsSNP could not be definitively ruled out as the causal variant. Nevertheless, in the case of <italic>ATXN7-</italic>K264R, three intronic SNPs in the same gene, one genotyped and two imputed, gave stronger signals of association. Similarly, while <italic>AKAP9-</italic>M463I gave the strongest signal among the genotyped SNPs, an imputed intronic SNP had an associated <italic>P</italic>-value almost an order of magnitude smaller. Future studies that fine-map these two regions through dense genotyping, in even larger sample sizes, will therefore be required to identify the casual variants and targeted genes.</p><p>The WTCCC also noted that an observed association with an nsSNP does not necessarily imply that the SNP, or even the gene in which it is located, is causal (<xref rid="DDU311C22" ref-type="bibr">22</xref>). That is, a candidate variant approach may identify novel susceptibility loci, but the variant in question cannot be assumed to be causal, highlighting the importance of rigorous fine-scale mapping analyses, even when an association with a potentially functional SNP has been identified. These results are also consistent with previous observations that the vast majority of common susceptibility alleles for breast cancer are non-coding; even after deliberately selecting potentially associated nsSNPs, the confirmed associations appear to be markers for other, presumably non-coding, functional SNPs.</p><p>For both the <italic>AKAP9</italic> and <italic>ATXN7</italic> nsSNPs, a consistent association was observed in the BCAC dataset and the combined analysis of nine GWASs. It is interesting to note, however, that neither locus was selected for inclusion on the iCOGS array based on evidence of association in the combined GWAS, despite the fact that the array included >35 273 SNPs selected for replication of the GWAS (<xref rid="DDU311C4" ref-type="bibr">4</xref>); both loci failed to reach the cut-off of <italic>P</italic> < 0.008. Indeed, the probability that loci with associated effects of this magnitude would have been selected for inclusion on iCOGS on the basis of their GWAS-based results was <0.40. These results emphasize that, for associations of this magnitude (OR = 1.05–1.07), even a combined GWAS of >10 000 cases and 10 000 controls has limited power. They also highlight that further loci with associated effects of similar magnitude remain to be identified (<xref rid="DDU311C4" ref-type="bibr">4</xref>).</p><p>A key strength of this study is the sample size; the iCOGS study is the largest genotyping study in breast cancer, and by far the largest study to evaluate non-synonymous SNPs. There is potentially some overlap between the samples used in the WTCCC study and the current analysis. The WTCCC study used samples from a UK study of familial breast cancer (FBCS) that was also used in one of the GWAS (UK2). Although it is not possible to check directly, any overlap with the samples used in the COGS would have been incidental: we estimate that <3% of samples in the BCAC COGS analysis could have been used in the WTCCC analysis. Moreover, since both loci reach genome-wide levels of significance, the evidence for these associations being real does not depend strongly on their selection through the WTCCC study.</p><p>In summary, in this very large case–control study focused on common candidate non-synonymous variants, we have identified a novel susceptibility locus at 3p21 and confirmed <italic>AKAP9-</italic>rs6964587 as a marker of a breast cancer risk at 7q21. Additional analyses of other common variants in these regions, the majority imputed from the 1000 genomes project, suggest that the nsSNPs genotyped are unlikely to be causal and that further fine-mapping studies are required to identify the variants and corresponding genes that modify breast cancer risk.</p></sec><sec sec-type="materials|methods" id="s4"><title>MATERIALS AND METHODS</title><sec id="s4a"><title>Participants</title><p>Samples for the main study were drawn from 49 case–control studies participating in the BCAC (Table <xref ref-type="table" rid="DDU311TB1">1</xref>): 38 from populations of predominantly European ancestry (46 450 cases and 42 600 controls), nine from populations of Asian ancestry (6269 cases and 6624 controls) and two of African-American women (1116 cases and 932 controls). Studies were either population based or hospital based; some studies sampled cases according to age, or oversampled for cases with a family history or bilateral disease (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddu311/-/DC1">Supplementary Material, Table S1</ext-link>). All study participants gave informed consent and all studies were approved by the corresponding local ethics committees.</p></sec><sec id="s4b"><title>SNP selection</title><p>We considered the 48 SNPs for which the strongest evidence of association (per-allele test <italic>P</italic>-value < 0.005) with breast cancer was observed in the original analysis by the WTCCC (<xref rid="DDU311C22" ref-type="bibr">22</xref>). In addition, we considered an nsSNP in <italic>AKAP9</italic> based on previous evidence from the BCAC (<xref rid="DDU311C23" ref-type="bibr">23</xref>,<xref rid="DDU311C24" ref-type="bibr">24</xref>) and for which consistent results were reported in the WTCCC study, even though the <italic>P</italic>-value did not meet the 0.005 threshold (<xref rid="DDU311C22" ref-type="bibr">22</xref>). Pairwise LD was assessed based on the correlation coefficient (<italic>r</italic><sup>2</sup>) in Europeans from HapMap data release 28 (Phases II and III) and visualised using Haploview version 4.2. Two nsSNPs (rs4148077 and rs4986791) were in complete LD (<italic>r</italic><sup>2</sup> = 1.0) with other variants considered (rs3742801 and rs4986790, respectively) and were therefore excluded. A further three SNPs (rs11465716, rs3790549 and rs7313899) were excluded because they were reported to have an MAF < 5%. Genotyping assays could not be designed for nine SNPs (Illumina design score <0.8), but surrogate SNPs could be genotyped for six of these, five in complete LD with the original SNP and one in high LD (<italic>r</italic><sup>2</sup> = 0.94); the remaining three SNPs (rs4255378, rs2074491 and rs4730283) could not be assessed. The 41 SNPs considered in this analysis are listed in Table <xref ref-type="table" rid="DDU311TB2">2</xref> and their selection is summarized in the <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddu311/-/DC1">Supplementary Material, Fig. S1</ext-link>.</p></sec><sec id="s4c"><title>Genotyping</title><p>Genotyping was conducted using a custom Illumina Infinium array (iCOGS) in four centers, as part of the COGS, as described previously (<xref rid="DDU311C4" ref-type="bibr">4</xref>). Genotypes were called using Illumina's proprietary GenCall algorithm. QC procedures have been previously described (<xref rid="DDU311C4" ref-type="bibr">4</xref>). Subjects with an overall call-rate <95% were excluded. Genotype intensity cluster plots were checked manually for SNPs for which evidence of association at <italic>P</italic> < 0.0001 was found, and all were judged to be acceptable, with the exception of that for rs6964587. However, clearly defined clusters were observed for rs6964587 after excluding 1259 samples from plates with call-rates <90% and all subsequent analyses for this SNP were based on this slightly reduced sample.</p></sec><sec id="s4d"><title>Statistical methods</title><p>Ethnic outliers were identified by multi-dimensional scaling, combining the iCOGS data with the three Hapmap2 populations, based on a subset of 37 000 uncorrelated markers that passed QC (including ∼1000 selected as ancestry informative markers). Most studies were predominantly of a single ancestry (European or Asian), and individuals with >15% minority ancestry, based on the first two components, were excluded. Exceptions to this were the two studies of African Americans (NBHS and SCCS) and two of the Asian studies, from Singapore (SGBCC) and Malaysia (MYBRCA), which contained a substantial fraction of individuals of mixed ancestry and so no exclusions were made based on genetically determined ethnicity. Principal components analyses were then carried out separately for the European, Asian and African-American subgroups, based on the same subset of SNPs. Results presented are for women of European ancestry, unless otherwise stated.</p><p>Departure from Hardy–Weinberg equilibrium (HWE) was tested for in controls using a study-stratified <italic>χ</italic><sup>2</sup> test (1 d.f.) (<xref rid="DDU311C25" ref-type="bibr">25</xref>,<xref rid="DDU311C26" ref-type="bibr">26</xref>). The association of each SNP with breast cancer risk was assessed by estimating genotype-specific and per-allele ORs using logistic regression, adjusted for study. For the analyses of European women, we also included the first six principal components as covariates, together with a seventh component specific to one study (LMBC) for which there was substantial inflation not accounted for by the components derived from the analysis of all studies. The inclusion of additional principal components did not reduce inflation further. We included two race-specific principal components in the analyses of Asian and African-American women.</p><p>Between-study heterogeneity in ORs was assessed for each of the three broad racial groups using the <italic>metan</italic> command in Stata (Release 10) (<xref rid="DDU311C27" ref-type="bibr">27</xref>) to meta-analyse study-specific per-allele log-OR estimates and generate <italic>I</italic><sup>2</sup> statistics; values >50% were considered notable (<xref rid="DDU311C28" ref-type="bibr">28</xref>). Differences in ORs by ethnicity were assessed using a likelihood ratio test (LRT) comparing the model with interaction terms for the per-allele log-OR by study population (European, Asian, African American) to the model with no interaction terms. Differences by age (<40, 40–49, 50–59, 60–69 and ≥70 years) were evaluated using a similar LRT, but modeling a linear trend by fitting the median age for each of these defined categories.</p><p>Heterogeneity in the OR by first degree family history (no, yes), by subtypes defined by ER, PR and HER2 status (positive, negative) and by axillary node status (none, ≥1 affected), tumor grade (<xref rid="DDU311C1" ref-type="bibr">1</xref>–<xref rid="DDU311C3" ref-type="bibr">3</xref>), tumor size (≤10, 11–20, >20 mm) and tumor morphology (ductal, lobular), was assessed by applying polytomous logistic regression to cases only, with the number of rare alleles as the outcome and restricting, for each explanatory variable, the beta coefficient for the comparison of 2–0 minor alleles to be double that for the comparison of 1–0 minor alleles. Linear trends were tested by fitting as continuous variables values 1, 2 and 3 for grade and the median value for each the defined categories of size. ORs specific to disease subtypes defined by ER status were estimated for Europeans using polytomous logistic regression with control status as the reference outcome. All statistical tests were two sided. The term ‘genome-wide statistically significant’ is taken to imply <italic>P</italic> < 5 × 10<sup>−8</sup>; otherwise ‘statistically significant’ implies <italic>P</italic> < 0.05. Power calculations were carried out using Quanto v.1.2.4 (<uri xlink:type="simple" xlink:href="http://biostats.usc.edu/software">http://biostats.usc.edu/software</uri>). All other analyses were conducted using Stata: release 10 (<xref rid="DDU311C27" ref-type="bibr">27</xref>). The analysis pipeline is summarized in the <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddu311/-/DC1">Supplementary Material, Fig. S1</ext-link>.</p><p>Genotype data for iCOGS SNPs in regions surrounding rs6864587 and rs1053338 were used to estimate genotypes for other common variants across those regions for the BCAC study subjects by imputation, using IMPUTE v2.2 and the March 2012 release of the 1000 Genomes Project as reference panel. SNPs with an imputation <italic>r</italic><sup>2</sup> < 0.80 were excluded.</p></sec></sec><sec id="s5"><title>SUPPLEMENTARY MATERIAL</title><p><ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddu311/-/DC1">Supplementary Material is available at <italic>HMG</italic> online.</ext-link></p></sec><sec id="s6"><title>FUNDING</title><p>BCAC is funded by <funding-source id="cs1" rid="cn1">Cancer Research UK</funding-source> (<award-id id="cn1" rid="cs1">C1287/A10118</award-id>, <award-id id="cn2" rid="cs2">C1287/A12014</award-id>) and by the <funding-source id="cs2" rid="cn2">European Community's Seventh Framework Programme under grant agreement</funding-source> n° 223175 (<award-id id="cn3" rid="cs3">HEALTH-F2–2009-223175</award-id>) (COGS). Meetings of the BCAC have been funded by the <funding-source id="cs3" rid="cn3">European Union COST programme</funding-source> (<award-id id="cn4" rid="cs4">BM0606</award-id>). Genotyping of the iCOGS array was funded by the <funding-source id="cs4" rid="cn4">European Union</funding-source> (<award-id id="cn5" rid="cs5">HEALTH-F2-2009-223175</award-id>), <funding-source id="cs5" rid="cn5">Cancer Research UK</funding-source> (<award-id id="cn6" rid="cs6">C1287/A10710</award-id>), the <funding-source id="cs6" rid="cn6">Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program</funding-source> and <funding-source id="cs7" rid="cn7">the Ministry of Economic Development, Innovation and Export Trade of Quebec</funding-source> (<award-id id="cn7" rid="cs7">PSR-SIIRI-701</award-id>). Additional support for the iCOGS infrastructure was provided by <funding-source id="cs8" rid="cn8">the National Institutes of Health</funding-source> (<award-id id="cn8" rid="cs8">CA128978</award-id>) and <funding-source id="cs9" rid="cn9">Post-Cancer GWAS initiative</funding-source> (<award-id id="cn9" rid="cs9">1U19 CA148537, 1U19 CA148065</award-id> and <award-id id="cn10" rid="cs10">1U19 CA148112</award-id>—the GAME-ON initiative), the <funding-source id="cs10" rid="cn10">Department of Defence</funding-source> (<award-id id="cn11" rid="cs11">W81XWH-10-1-0341</award-id>), <funding-source id="cs11" rid="cn11">Komen Foundation for the Cure,</funding-source> the <funding-source id="cs12" rid="cn12">Breast Cancer Research Foundation</funding-source>, and the <funding-source id="cs13" rid="cn13">Ovarian Cancer Research Fund</funding-source>. The ABCFS and OFBCR work was supported by grant <award-id id="cn12" rid="cs12">UM1 CA164920</award-id> from <funding-source id="cs14" rid="cn14">the National Cancer Institute (USA)</funding-source>. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products or organizations imply endorsement by the US Government or the BCFR. The ABCFS was also supported by the <funding-source id="cs15" rid="cn15">National Health and Medical Research Council of Australia</funding-source>, the <funding-source id="cs16" rid="cn16">New South Wales Cancer Council</funding-source>, the <funding-source id="cs17" rid="cn17">Victorian Health Promotion Foundation (Australia)</funding-source> and the <funding-source id="cs18" rid="cn18">Victorian Breast Cancer Research Consortium</funding-source>. J.L.H. is a National Health and Medical Research Council (NHMRC) Senior Principal Research Fellow and M.C.S. is a NHMRC Senior Research Fellow. The OFBCR work was also supported by the <funding-source id="cs19" rid="cn19">Canadian Institutes of Health Research ‘CIHR Team in Familial Risks of Breast Cancer’ program</funding-source>. The ABCS was funded by <funding-source id="cs20" rid="cn20">the Dutch Cancer Society</funding-source> Grant no. <award-id id="cn13" rid="cs13">NKI2007-3839</award-id> and <award-id id="cn14" rid="cs14">NKI2009-4363</award-id>. The ACP study is funded by the <funding-source id="cs21" rid="cn21">Breast Cancer Research Trust, UK</funding-source>. The work of the BBCC was partly funded by <funding-source id="cs22" rid="cn22">ELAN-Programme of the University Hospital of Erlangen</funding-source>. The BBCS is funded by <funding-source id="cs23" rid="cn23">Cancer Research UK</funding-source> and <funding-source id="cs24" rid="cn24">Breakthrough Breast Cancer</funding-source> and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). E.S. is supported by <funding-source id="cs25" rid="cn25">NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas’ NHS Foundation Trust in partnership with King's College London, UK</funding-source>. Core funding to the Wellcome Trust Centre for Human Genetics was provided by the Wellcome Trust (090532/Z/09/Z). I.T. is supported by <funding-source id="cs26" rid="cn26">the Oxford Biomedical Research Centre</funding-source>. The BSUCH study was supported by the <funding-source id="cs27" rid="cn27">Dietmar-Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ)</funding-source>. The CECILE study was funded by <funding-source id="cs28" rid="cn28">the Fondation de France, the French National Institute of Cancer (INCa)</funding-source>, <funding-source id="cs29" rid="cn29">The National League against Cancer, the National Agency for Environmental and Occupational Health and Food Safety (ANSES)</funding-source>, <funding-source id="cs30" rid="cn30">the National Agency for Research (ANR)</funding-source>, and the <funding-source id="cs31" rid="cn31">Association for Research against Cancer (ARC)</funding-source>. The CGPS was supported by <funding-source id="cs32" rid="cn32">the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council and Herlev Hospital</funding-source>. The CNIO-BCS was supported by <funding-source id="cs33" rid="cn33">the Genome Spain Foundation</funding-source>, <funding-source id="cs34" rid="cn34">the Red Temática de Investigación Cooperativa en Cáncer</funding-source> and grants from the <funding-source id="cs35" rid="cn35">Asociación Española Contra el Cáncer</funding-source> and the <funding-source id="cs36" rid="cn36">Fondo de Investigación Sanitario</funding-source> (<award-id id="cn15" rid="cs15">PI11/00923</award-id> and <award-id id="cn16" rid="cs16">PI081120</award-id>). The Human Genotyping-CEGEN Unit, CNIO is supported by <funding-source id="cs37" rid="cn37">the Instituto de Salud Carlos III</funding-source>. D.A. was supported by a Fellowship from <funding-source id="cs38" rid="cn38">the Michael Manzella Foundation (MMF)</funding-source> and was a participant in the CNIO Summer Training Program. The CTS was initially supported by the <funding-source id="cs39" rid="cn39">California Breast Cancer Act of 1993</funding-source> and <funding-source id="cs40" rid="cn40">the California Breast Cancer Research Fund</funding-source> (contract <award-id id="cn17" rid="cs17">97-10500</award-id>) and is currently funded through <funding-source id="cs41" rid="cn41">the National Institutes of Health</funding-source> (<award-id id="cn18" rid="cs18">R01 CA77398</award-id>). Collection of cancer incidence data was supported by <funding-source id="cs42" rid="cn42">the California Department of Public Health</funding-source> as part of the statewide cancer reporting program mandated by <funding-source id="cs43" rid="cn43">California Health and Safety Code Section 103885</funding-source>. HAC receives support from the <funding-source id="cs44" rid="cn44">Lon V Smith Foundation</funding-source> (<award-id id="cn19" rid="cs19">LVS39420</award-id>). The ESTHER study was supported by a grant from <funding-source id="cs45" rid="cn45">the Baden Württemberg Ministry of Science, Research and Arts</funding-source>. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from <funding-source id="cs46" rid="cn46">the German Cancer Aid (Deutsche Krebshilfe)</funding-source>. The GENICA was funded by <funding-source id="cs47" rid="cn47">the Federal Ministry of Education and Research (BMBF) Germany</funding-source> grants <award-id id="cn20" rid="cs20">01KW9975/5</award-id>, <award-id id="cn21" rid="cs21">01KW9976/8</award-id>, <award-id id="cn22" rid="cs22">01KW9977/0</award-id> and <award-id id="cn23" rid="cs23">01KW0114</award-id>, the <funding-source id="cs48" rid="cn48">Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA)</funding-source>, as well as the <funding-source id="cs49" rid="cn49">Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus Bonn, Germany</funding-source>. The HEBCS was supported by the <funding-source id="cs50" rid="cn50">Helsinki University Central Hospital Research Fund, Academy of Finland</funding-source> (<award-id id="cn24" rid="cs24">132473</award-id>), the <funding-source id="cs51" rid="cn51">Finnish Cancer Society, The Nordic Cancer Union and the Sigrid Juselius Foundation</funding-source>. The HERPACC was supported by a Grant-in-Aid for Scientific Research on Priority Areas from the <funding-source id="cs52" rid="cn52">Ministry of Education, Science, Sports, Culture and Technology of Japan</funding-source>, by a Grant-in-Aid for the <funding-source id="cs53" rid="cn53">Third Term Comprehensive 10-Year Strategy for Cancer Control from Ministry Health, Labour and Welfare of Japan</funding-source>, by a research grant from <funding-source id="cs54" rid="cn54">Takeda Science Foundation, by Health and Labour Sciences Research Grants for Research on Applying Health Technology from Ministry Health, Labour and Welfare of Japan</funding-source> and by <funding-source id="cs55" rid="cn55">National Cancer Center Research and Development Fund</funding-source>. The HMBCS was supported by short-term fellowships from the <funding-source id="cs56" rid="cn56">German Academic Exchange Program</funding-source> (to N.B), and <funding-source id="cs57" rid="cn57">the Friends of Hannover Medical School</funding-source> (to N.B.). <funding-source id="cs58" rid="cn58">Financial support for KARBAC</funding-source> was provided through the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and <funding-source id="cs59" rid="cn59">Karolinska Institutet, the Stockholm Cancer Foundation and the Swedish Cancer Society</funding-source>. The KBCP was financially supported by <funding-source id="cs60" rid="cn60">the special Government Funding (EVO) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, the Academy of Finland</funding-source> and by <funding-source id="cs61" rid="cn61">the strategic funding of the University of Eastern Finland</funding-source>. kConFab is supported by grants from <funding-source id="cs62" rid="cn62">the National Breast Cancer Foundation, the NHMRC, the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia</funding-source> and the <funding-source id="cs63" rid="cn63">Cancer Foundation of Western Australia</funding-source>. The kConFab Clinical Follow Up Study was funded by the <funding-source id="cs64" rid="cn64">NHMRC</funding-source> (<award-id id="cn25" rid="cs25">145684, 288704, 454508</award-id>). Financial support for the AOCS was provided by <funding-source id="cs65" rid="cn65">the United States Army Medical Research and Materiel Command</funding-source> (<award-id id="cn26" rid="cs26">DAMD17-01-1-0729)</award-id>, the <funding-source id="cs66" rid="cn66">Cancer Council of Tasmania and Cancer Foundation of Western Australia and the NHMRC</funding-source> (<award-id id="cn27" rid="cs27">199600)</award-id>. G.C.T. and P.W. are supported by the <funding-source id="cs67" rid="cn67">NHMRC</funding-source>. LAABC is supported by grants (<award-id id="cn28" rid="cs28">1RB-0287</award-id>, <award-id id="cn29" rid="cs29">3PB-0102, 5PB-0018</award-id> and <award-id id="cn30" rid="cs30">10PB-0098</award-id>) from the <funding-source id="cs68" rid="cn68">California Breast Cancer Research Program</funding-source>. Incident breast cancer cases were collected by the <funding-source id="cs69" rid="cn69">USC Cancer Surveillance Program (CSP)</funding-source> which is supported under subcontract by <funding-source id="cs70" rid="cn70">the California Department of Health</funding-source>. The CSP is also part of <funding-source id="cs71" rid="cn71">the National Cancer Institute's Division of Cancer Prevention and Control Surveillance, Epidemiology, and End Results Program</funding-source>, under contract number <award-id id="cn31" rid="cs31">N01CN25403</award-id>. LMBC is supported by the ‘<funding-source id="cs72" rid="cn72">Stichting tegen Kanker’</funding-source> (<award-id id="cn32" rid="cs32">232-2008</award-id> and <award-id id="cn33" rid="cs33">196-2010</award-id>). The MARIE study was supported by <funding-source id="cs73" rid="cn73">the Deutsche Krebshilfe e.V.</funding-source> (<award-id id="cn34" rid="cs34">70-2892-BR I</award-id>), the <funding-source>Federal Ministry of Education and Research (BMBF) Germany</funding-source> (<award-id id="cn35" rid="cs35">01KH0402</award-id>), <funding-source>the Hamburg Cancer Society and the German Cancer Research Center (DKFZ)</funding-source>. MBCSG is supported by grants from <funding-source>the Italian Association for Cancer Research (AIRC)</funding-source> and by funds from the Italian citizens who allocated a 5/1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5 × 1000’). The MCBCS was supported by <funding-source>the NIH grants</funding-source> (<award-id id="cn36" rid="cs36">CA122340</award-id>, <award-id id="cn37" rid="cs37">CA128978</award-id>) and a <funding-source>Specialized Program of Research Excellence (SPORE) in Breast Cancer</funding-source> (<award-id id="cn38" rid="cs38">CA116201</award-id>), <funding-source>the Breast Cancer Research Foundation</funding-source> and a generous gift from <funding-source>the David F. and Margaret T. Grohne Family Foundation</funding-source> and the <funding-source>Ting Tsung and Wei Fong Chao Foundation</funding-source>. MCCS cohort recruitment was funded by <funding-source>VicHealth and Cancer Council Victoria</funding-source>. The MCCS was further supported by <funding-source>Australian NHMRC</funding-source> grants <award-id id="cn39" rid="cs39">209057</award-id>, <award-id id="cn40" rid="cs40">251553</award-id> and <award-id id="cn41" rid="cs41">504711</award-id> and by infrastructure provided by Cancer Council Victoria. The MEC was supported by <funding-source>NIH grants</funding-source><award-id id="cn42" rid="cs42">CA63464</award-id>, <award-id id="cn43" rid="cs43">CA54281</award-id>, <award-id id="cn44" rid="cs44">CA098758</award-id> and <award-id id="cn45" rid="cs45">CA132839</award-id>. The work of MTLGEBCS was supported by <funding-source>the Quebec Breast Cancer Foundation, the Canadian Institutes of Health Research</funding-source> (<award-id id="cn46" rid="cs46">grant CRN-87521</award-id>) and <funding-source>the Ministry of Economic Development, Innovation and Export Trade</funding-source> (<award-id id="cn47" rid="cs47">grant PSR-SIIRI-701</award-id>). MYBRCA is funded by research grants from <funding-source>the Malaysian Ministry of Science, Technology and Innovation (MOSTI), Malaysian Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation (CARIF)</funding-source>. Additional controls were recruited by the Singapore Eye Research Institute, which was supported by a grant from <funding-source>the Biomedical Research Council</funding-source> (<award-id id="cn48" rid="cs48">BMRC08/1/35/19/550</award-id> ), Singapore and the <funding-source>National medical Research Council, Singapore</funding-source> (<award-id id="cn49" rid="cs49">NMRC/CG/SERI/2010</award-id>). The NBCS was supported by grants from <funding-source>the Norwegian Research council</funding-source> (<award-id id="cn50" rid="cs50">155218/V40</award-id>, <award-id id="cn51" rid="cs51">175240/S10</award-id> to A.L.B.D., <award-id id="cn52" rid="cs52">FUGE-NFR 181600/V11</award-id> to V.N.K. and a <award-id id="cn53" rid="cs53">Swizz Bridge Award</award-id> to A.L.B.D.). The NBHS was supported by NIH grant <award-id id="cn54" rid="cs54">R01CA100374</award-id>. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by <award-id id="cn55" rid="cs55">P30 CA68485</award-id>. The OBCS was supported by research grants from <funding-source>the Finnish Cancer Foundation, the Sigrid Juselius Foundation</funding-source>, <funding-source>the Academy of Finland, the University of Oulu, and the Oulu University Hospital</funding-source>. The ORIGO study was supported by <funding-source>the Dutch Cancer Society</funding-source> (<award-id id="cn56" rid="cs56">RUL 1997-1505</award-id>) and <funding-source>the Biobanking and Biomolecular Resources Research Infrastructure</funding-source> (<award-id id="cn57" rid="cs57">BBMRI-NL CP16</award-id>). The PBCS was funded by <funding-source>Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA</funding-source>. pKARMA is a combination of the KARMA and LIBRO-1 studies. KARMA was supported by <funding-source>Märit and Hans Rausings Initiative Against Breast Cancer</funding-source>. KARMA and LIBRO-1 were supported <funding-source>the Cancer Risk Prediction Center</funding-source> (CRisP; <uri xlink:type="simple" xlink:href="www.crispcenter.org">www.crispcenter.org</uri>), <funding-source>a Linnaeus Centre</funding-source> (Contract ID <award-id id="cn58" rid="cs58">70867902</award-id>) financed by the <funding-source>Swedish Research Council</funding-source>. The RBCS was funded by <funding-source>the Dutch Cancer Society</funding-source> (<award-id id="cn59" rid="cs59">DDHK 2004-3124</award-id>, <award-id id="cn60" rid="cs60">DDHK 2009-4318</award-id>). SASBAC was supported by funding from the <funding-source>Agency for Science, Technology and Research of Singapore (A*STAR)</funding-source>, the <funding-source>US National Institute of Health (NIH)</funding-source> and the <funding-source>Susan G. Komen Breast Cancer Foundation</funding-source>. KC was financed by <funding-source>the Swedish Cancer Society</funding-source> (<award-id id="cn61" rid="cs61">5128-B07-01PAF</award-id>). The SBCGS was supported primarily by NIH grants <award-id id="cn62" rid="cs62">R01CA64277</award-id>, <award-id id="cn63" rid="cs63">R01CA148667</award-id>, and <award-id id="cn64" rid="cs64">R37CA70867</award-id>. Biological sample preparation was conducted <funding-source>the Survey and Biospecimen Shared Resource</funding-source>, which is supported by <award-id id="cn65" rid="cs65">P30 CA68485</award-id>. The SBCS was supported by <funding-source>Yorkshire Cancer Research</funding-source><award-id id="cn66" rid="cs66">S305PA, S299 and S295</award-id>. Funding for the SCCS was provided by <funding-source>NIH grant</funding-source><award-id id="cn67" rid="cs67">R01 CA092447</award-id>. The Arkansas Central Cancer Registry is fully funded by a grant <funding-source>from National Program of Cancer Registries, Centers for Disease Control and Prevention (CDC)</funding-source>. Data on SCCS cancer cases from Mississippi were collected by <funding-source>the Mississippi Cancer Registry</funding-source> which participates in <funding-source>the National Program of Cancer Registries (NPCR)</funding-source> of <funding-source>the Centers for Disease Control and Prevention (CDC)</funding-source>. The contents of this publication are solely the responsibility of the authors and do not necessarily represent the official views of the CDC or the Mississippi Cancer Registry. SEARCH is funded by <funding-source>a programme grant from Cancer Research UK</funding-source> (<award-id id="cn68" rid="cs68">C490/A10124</award-id>) and supported by the <funding-source>UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge</funding-source>. The SEBCS was supported by the <funding-source>BRL (Basic Research Laboratory)</funding-source> program through the <funding-source>National Research Foundation of Korea</funding-source> funded by <funding-source>the Ministry of Education, Science and Technology</funding-source> (<award-id id="cn69" rid="cs69">2012-0000347</award-id>). SGBCC is funded by the <funding-source>National Medical Research Council Start-up Grant and Centre Grant</funding-source> (<award-id id="cn70" rid="cs70">NMRC/CG/NCIS /2010</award-id>). The recruitment of controls by the <funding-source>Singapore Consortium of Cohort Studies-Multi-ethnic cohort (SCCS-MEC)</funding-source> was funded by the <funding-source>Biomedical Research Council</funding-source> (grant number: <award-id id="cn71" rid="cs71">05/1/21/19/425</award-id>). SKKDKFZS is supported by <funding-source>the DKFZ</funding-source>. The SZBCS was supported by Grant <award-id id="cn72" rid="cs72">PBZ_KBN_122/P05/2004</award-id>. K. J. is a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University, supported by the <funding-source>Polish Foundation of Science</funding-source>. The TNBCC was supported by the <funding-source>NIH</funding-source> grant (<award-id id="cn73" rid="cs73">CA128978</award-id>), the <funding-source>Breast Cancer Research Foundation, Komen Foundation for the Cure, the Ohio State University Comprehensive Cancer Center, the Stefanie Spielman Fund for Breast Cancer Research</funding-source> and a generous gift from the <funding-source>David F. and Margaret T. Grohne Family Foundation</funding-source> and <funding-source>the Ting Tsung and Wei Fong Chao Foundation</funding-source>. Part of the TNBCC (DEMOKRITOS) has been co-financed by <funding-source>the European Union (European Social Fund – ESF)</funding-source> and <funding-source>Greek National Funds</funding-source> through the Operational Program ‘Education and Lifelong Learning’ of the National Strategic Reference Framework (NSRF)—Research Funding Program of the General Secretariat for Research & Technology: ARISTEIA. The TWBCS is supported by <funding-source>the Institute of Biomedical Sciences, Academia Sinica</funding-source> and the <funding-source>National Science Council, Taiwan</funding-source>. The UKBGS is funded by <funding-source>Breakthrough Breast Cancer and the Institute of Cancer Research (ICR)</funding-source>. ICR acknowledges NHS funding to the NIHR Biomedical Research Centre. Funding to pay the Open Access publication charges for this article was provided by the Wellcome Trust.</p></sec><sec sec-type="supplementary-material"><title>Supplementary Material</title><supplementary-material id="PMC_1" content-type="local-data"><caption><title>Supplementary Data</title></caption><media mimetype="text" mime-subtype="html" xlink:href="supp_23_22_6096__index.html"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="vnd.ms-powerpoint" xlink:href="supp_ddu311_ddu311supp_fig1.pptx"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_ddu311_ddu311supp_table1.docx"></media></supplementary-material></sec></body><back><ack><title>ACKNOWLEDGEMENTS</title><p>We thank all the individuals who took part in these studies and all the researchers, study staff, clinicians and other healthcare providers, technicians and administrative staff who have enabled this work to be carried out. In particular, we thank: Andrew Berchuck (OCAC), Rosalind A. Eeles, Ali Amin Al Olama, Zsofia Kote-Jarai, Sara Benlloch (PRACTICAL), Antonis Antoniou, Lesley McGuffog, Ken Offit (CIMBA), Andrew Lee, and Ed Dicks, Craig Luccarini and the staff of the Centre for Genetic Epidemiology Laboratory, Daniel C. Tessier, Francois Bacot, Daniel Vincent, Sylvie LaBoissière, Frederic Robidoux and the staff of the McGill University and Génome Québec Innovation Centre, Sune F. Nielsen and the staff of the Copenhagen DNA laboratory, Julie M. Cunningham, Sharon A. Windebank, Christopher A. Hilker, Jeffrey Meyer and the staff of Mayo Clinic Genotyping Core Facility, Maggie Angelakos, Judi Maskiell, Ellen van der Schoot (Sanquin Research), Emiel Rutgers, Senno Verhoef, Frans Hogervorst, the Thai Ministry of Public Health (MOPH), Dr Prat Boonyawongviroj (former Permanent Secretary of MOPH), Dr Pornthep Siriwanarungsan (Department Director-General of Disease Control), Michael Schrauder, Matthias Rübner, Sonja Oeser, Silke Landrith, Eileen Williams, Elaine Ryder-Mills, Kara Sargus, Niall McInerney, Gabrielle Colleran, Andrew Rowan, Angela Jones, Christof Sohn, Andeas Schneeweiß, Peter Bugert, the Danish Breast Cancer Group, Núria Álvarez, the CTS Steering Committee (including Leslie Bernstein, James Lacey, Sophia Wang, Huiyan Ma, Yani Lu and Jessica Clague DeHart at the Beckman Research Institute of the City of Hope; Dennis Deapen, Rich Pinder, Eunjung Lee and Fred Schumacher at the University of Southern California; Pam Horn-Ross, Peggy Reynolds and David Nelson at the Cancer Prevention Institute of California; and Hannah Park at the University of California Irvine), Hartwig Ziegler, Sonja Wolf, Volker Hermann, The GENICA network [Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, and University of Tübingen, Germany; (HB, Wing-Yee Lo, Christina Justenhoven), Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany (YDK, Christian Baisch), Institute of Pathology, University of Bonn, Germany (Hans-Peter Fischer), Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ) Heidelberg, Germany (UH), Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Germany (Thomas Brüning, Beate Pesch, Sylvia Rabstein, Anne Lotz), Institute of Occupational Medicine and Maritime Medicine, University Medical Center Hamburg-Eppendorf, Germany (Volker Harth)], Tuomas Heikkinen, Irja Erkkilä, Kirsimari Aaltonen, Karl von Smitten, Natalia Antonenkova, Peter Hillemanns, Hans Christiansen, Eija Myöhänen, Helena Kemiläinen, Heather Thorne, Eveline Niedermayr, the AOCS Management Group (D Bowtell, G Chenevix-Trench, A deFazio, D Gertig, A Green, P Webb), the ACS Management Group (A. Green, P. Parsons, N. Hayward, P. Webb, D. Whiteman), the LAABC data collection team, especially Annie Fung and June Yashiki, Gilian Peuteman, Dominiek Smeets, Thomas Van Brussel, Kathleen Corthouts, Nadia Obi, Judith Heinz, Sabine Behrens, Ursula Eilber, Muhabbet Celik, Til Olchers, Siranoush Manoukian, Bernard Peissel, Giulietta Scuvera, Daniela Zaffaroni, Bernardo Bonanni, Irene Feroce, Angela Maniscalco, Alessandra Rossi, Loris Bernard, the personnel of the Cogentech Cancer Genetic Test Laboratory, The Mayo Clinic Breast Cancer Patient Registry, Martine Tranchant, Marie-France Valois, Annie Turgeon, Lea Heguy, Phuah Sze Yee, Peter Kang, Kang In Nee, Shivaani Mariapun, Yoon Sook-Yee, Daphne Lee, Teh Yew Ching, Nur Aishah Mohd Taib, Meeri Otsukka, Kari Mononen, Teresa Selander, Nayana Weerasooriya, OFBCR staff, E. Krol-Warmerdam, J. Molenaar, J. Blom, Louise Brinton, Neonila Szeszenia-Dabrowska, Beata Peplonska, Witold Zatonski, Pei Chao, Michael Stagner, Petra Bos, Jannet Blom, Ellen Crepin, Anja Nieuwlaat, Annette Heemskerk, the Erasmus MC Family Cancer Clinic, Sue Higham, Simon Cross, Helen Cramp, Dan Connley, Sabapathy Balasubramanian, Ian Brock, The Eastern Cancer Registration and Information Centre, the SEARCH and EPIC teams, Craig Luccarini, Don Conroy, Caroline Baynes, Kimberley Chua, the Ohio State University Human Genetics Sample Bank and Robert Pilarski. Data on SCCS cancer cases used in this publication were provided by the: Alabama Statewide Cancer Registry; Kentucky Cancer Registry, Lexington, KY; Tennessee Department of Health, Office of Cancer Surveillance; Florida Cancer Data System; North Carolina Central Cancer Registry, North Carolina Division of Public Health; Georgia Comprehensive Cancer Registry; Louisiana Tumor Registry; Mississippi Cancer Registry; South Carolina Central Cancer Registry; Virginia Department of Health, Virginia Cancer Registry; Arkansas Department of Health, Cancer Registry.</p><p><italic>Conflict of Interest statement.</italic> None declared.</p></ack><ref-list><title>REFERENCES</title><ref id="DDU311C1"><label>1</label><element-citation publication-type="journal"><collab>Breast Cancer Association Consortium</collab><article-title>Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium</article-title><source>J. Natl. 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