Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Identifieur interne : 000768 ( Pmc/Corpus ); précédent : 000767; suivant : 000769Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Auteurs : Fergus J. Couch ; Karoline B. Kuchenbaecker ; Kyriaki Michailidou ; Gustavo A. Mendoza-Fandino ; Silje Nord ; Janna Lilyquist ; Curtis Olswold ; Emily Hallberg ; Simona Agata ; Habibul Ahsan ; Kristiina Aittom Ki ; Christine Ambrosone ; Irene L. Andrulis ; Hoda Anton-Culver ; Volker Arndt ; Banu K. Arun ; Brita Arver ; Monica Barile ; Rosa B. Barkardottir ; Daniel Barrowdale ; Lars Beckmann ; Matthias W. Beckmann ; Javier Benitez ; Stephanie V. Blank ; Carl Blomqvist ; Natalia V. Bogdanova ; Stig E. Bojesen ; Manjeet K. Bolla ; Bernardo Bonanni ; Hiltrud Brauch ; Hermann Brenner ; Barbara Burwinkel ; Saundra S. Buys ; Trinidad Caldes ; Maria A. Caligo ; Federico Canzian ; Jane Carpenter ; Jenny Chang-Claude ; Stephen J. Chanock ; Wendy K. Chung ; Kathleen B. M. Claes ; Angela Cox ; Simon S. Cross ; Julie M. Cunningham ; Kamila Czene ; Mary B. Daly ; Francesca Damiola ; Hatef Darabi ; Miguel De La Hoya ; Peter Devilee ; Orland Diez ; Yuan C. Ding ; Riccardo Dolcetti ; Susan M. Domchek ; Cecilia M. Dorfling ; Isabel Dos-Santos-Silva ; Martine Dumont ; Alison M. Dunning ; Diana M. Eccles ; Hans Ehrencrona ; Arif B. Ekici ; Heather Eliassen ; Steve Ellis ; Peter A. Fasching ; Jonine Figueroa ; Dieter Flesch-Janys ; Asta Försti ; Florentia Fostira ; William D. Foulkes ; Tara Friebel ; Eitan Friedman ; Debra Frost ; Marike Gabrielson ; Marilie D. Gammon ; Patricia A. Ganz ; Susan M. Gapstur ; Judy Garber ; Mia M. Gaudet ; Simon A. Gayther ; Anne-Marie Gerdes ; Maya Ghoussaini ; Graham G. Giles ; Gord Glendon ; Andrew K. Godwin ; Mark S. Goldberg ; David E. Goldgar ; Anna González-Neira ; Mark H. Greene ; Jacek Gronwald ; Pascal Guénel ; Marc Gunter ; Lothar Haeberle ; Christopher A. Haiman ; Ute Hamann ; Thomas V. O. Hansen ; Steven Hart ; Sue Healey ; Tuomas Heikkinen ; Brian E. Henderson ; Josef Herzog ; Frans B. L. Hogervorst ; Antoinette Hollestelle ; Maartje J. Hooning ; Robert N. Hoover ; John L. Hopper ; Keith Humphreys ; David J. Hunter ; Tomasz Huzarski ; Evgeny N. Imyanitov ; Claudine Isaacs ; Anna Jakubowska ; Paul James ; Ramunas Janavicius ; Uffe Birk Jensen ; Esther M. John ; Michael Jones ; Maria Kabisch ; Siddhartha Kar ; Beth Y. Karlan ; Sofia Khan ; Kay-Tee Khaw ; Muhammad G. Kibriya ; Julia A. Knight ; Yon-Dschun Ko ; Irene Konstantopoulou ; Veli-Matti Kosma ; Vessela Kristensen ; Ava Kwong ; Yael Laitman ; Diether Lambrechts ; Conxi Lazaro ; Eunjung Lee ; Loic Le Marchand ; Jenny Lester ; Annika Lindblom ; Noralane Lindor ; Sara Lindstrom ; Jianjun Liu ; Jirong Long ; Jan Lubinski ; Phuong L. Mai ; Enes Makalic ; Kathleen E. Malone ; Arto Mannermaa ; Siranoush Manoukian ; Sara Margolin ; Frederik Marme ; John W. M. Martens ; Lesley Mcguffog ; Alfons Meindl ; Austin Miller ; Roger L. Milne ; Penelope Miron ; Marco Montagna ; Sylvie Mazoyer ; Anna M. Mulligan ; Taru A. Muranen ; Katherine L. Nathanson ; Susan L. Neuhausen ; Heli Nevanlinna ; B Rge G. Nordestgaard ; Robert L. Nussbaum ; Kenneth Offit ; Edith Olah ; Olufunmilayo I. Olopade ; Janet E. Olson ; Ana Osorio ; Sue K. Park ; Petra H. Peeters ; Bernard Peissel ; Paolo Peterlongo ; Julian Peto ; Catherine M. Phelan ; Robert Pilarski ; Bruce Poppe ; Katri Pylk S ; Paolo Radice ; Nazneen Rahman ; Johanna Rantala ; Christine Rappaport ; Gad Rennert ; Andrea Richardson ; Mark Robson ; Isabelle Romieu ; Anja Rudolph ; Emiel J. Rutgers ; Maria-Jose Sanchez ; Regina M. Santella ; Elinor J. Sawyer ; Daniel F. Schmidt ; Marjanka K. Schmidt ; Rita K. Schmutzler ; Fredrick Schumacher ; Rodney Scott ; Leigha Senter ; Priyanka Sharma ; Jacques Simard ; Christian F. Singer ; Olga M. Sinilnikova ; Penny Soucy ; Melissa Southey ; Doris Steinemann ; Marie Stenmark-Askmalm ; Dominique Stoppa-Lyonnet ; Anthony Swerdlow ; Csilla I. Szabo ; Rulla Tamimi ; William Tapper ; Manuel R. Teixeira ; Soo-Hwang Teo ; Mary B. Terry ; Mads Thomassen ; Deborah Thompson ; Laima Tihomirova ; Amanda E. Toland ; Robert A. E. M. Tollenaar ; Ian Tomlinson ; Thérèse Truong ; Helen Tsimiklis ; Alex Teulé ; Rosario Tumino ; Nadine Tung ; Clare Turnbull ; Giski Ursin ; Carolien H. M. Van Deurzen ; Elizabeth J. Van Rensburg ; Raymonda Varon-Mateeva ; Zhaoming Wang ; Shan Wang-Gohrke ; Elisabete Weiderpass ; Jeffrey N. Weitzel ; Alice Whittemore ; Hans Wildiers ; Robert Winqvist ; Xiaohong R. Yang ; Drakoulis Yannoukakos ; Song Yao ; M Pilar Zamora ; Wei Zheng ; Per Hall ; Peter Kraft ; Celine Vachon ; Susan Slager ; Georgia Chenevix-Trench ; Paul D. P. Pharoah ; Alvaro A. N. Monteiro ; Montserrat García-Closas ; Douglas F. Easton ; Antonis C. AntoniouSource :
- Nature Communications [ 2041-1723 ] ; 2016.
Abstract
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (
Url:
DOI: 10.1038/ncomms11375
PubMed: 27117709
PubMed Central: 4853421
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PMC:4853421Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer</title><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="a1"><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Kuchenbaecker, Karoline B" sort="Kuchenbaecker, Karoline B" uniqKey="Kuchenbaecker K" first="Karoline B." last="Kuchenbaecker">Karoline B. Kuchenbaecker</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></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="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mendoza Fandino, Gustavo A" sort="Mendoza Fandino, Gustavo A" uniqKey="Mendoza Fandino G" first="Gustavo A." last="Mendoza-Fandino">Gustavo A. Mendoza-Fandino</name><affiliation><nlm:aff id="a4"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Nord, Silje" sort="Nord, Silje" uniqKey="Nord S" first="Silje" last="Nord">Silje Nord</name><affiliation><nlm:aff id="a5"><institution>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet</institution>, N-0310 Oslo,<country>Norway</country></nlm:aff></affiliation></author><author><name sortKey="Lilyquist, Janna" sort="Lilyquist, Janna" uniqKey="Lilyquist J" first="Janna" last="Lilyquist">Janna Lilyquist</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="a6"><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV—IRCCS</institution>, 20133 Padua,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Ahsan, Habibul" sort="Ahsan, Habibul" uniqKey="Ahsan H" first="Habibul" last="Ahsan">Habibul Ahsan</name><affiliation><nlm:aff id="a7"><institution>Department of Health Studies, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a8"><institution>Comprehensive Cancer Center, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a9"><institution>Departments of Medicine and Human Genetics, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</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="a10"><institution>Department of Clinical Genetics, Helsinki University Central Hospital</institution>, 00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Ambrosone, Christine" sort="Ambrosone, Christine" uniqKey="Ambrosone C" first="Christine" last="Ambrosone">Christine Ambrosone</name><affiliation><nlm:aff id="a11"><institution>Department of Cancer Prevention and Control, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="a12"><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</nlm:aff></affiliation><affiliation><nlm:aff id="a13"><institution>Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto</institution>, Ontario,<country>Canada</country> M5B 1W8</nlm:aff></affiliation></author><author><name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation><nlm:aff id="a14"><institution>Department of Epidemiology, University of California Irvine</institution>, Irvine, California, 92697,<country>USA</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="a15"><institution>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Arun, Banu K" sort="Arun, Banu K" uniqKey="Arun B" first="Banu K." last="Arun">Banu K. Arun</name><affiliation><nlm:aff id="a16"><institution>University of Texas MD Anderson Cancer Center</institution>, Houston, Texas 77030,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Arver, Brita" sort="Arver, Brita" uniqKey="Arver B" first="Brita" last="Arver">Brita Arver</name><affiliation><nlm:aff id="a17"><institution>Department of Oncology, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</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="a18"><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, 20141 Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Barkardottir, Rosa B" sort="Barkardottir, Rosa B" uniqKey="Barkardottir R" first="Rosa B." last="Barkardottir">Rosa B. Barkardottir</name><affiliation><nlm:aff id="a19"><institution>Department of Pathology, Landspitali University Hospital and University of Iceland School of Medicine</institution>, 101 Reykjavik,<country>Iceland</country></nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Beckmann, Lars" sort="Beckmann, Lars" uniqKey="Beckmann L" first="Lars" last="Beckmann">Lars Beckmann</name><affiliation><nlm:aff id="a20"><institution>Institute for Quality and Efficiency in Health Care (IQWiG)</institution>, 50670 Cologne,<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="a21"><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="a22"><institution>Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="a23"><institution>Genotyping Unit (CeGen), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="a24"><institution>Biomedical Network on Rare Diseases (CIBERER)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Blank, Stephanie V" sort="Blank, Stephanie V" uniqKey="Blank S" first="Stephanie V." last="Blank">Stephanie V. Blank</name><affiliation><nlm:aff id="a25"><institution>NYU Women's Cancer Program, New York University School of Medicine</institution>, New York, New York 10016,<country>USA</country></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="a26"><institution>Department of Oncology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Bogdanova, Natalia V" sort="Bogdanova, Natalia V" uniqKey="Bogdanova N" first="Natalia V." last="Bogdanova">Natalia V. Bogdanova</name><affiliation><nlm:aff id="a27"><institution>Department of Radiation Oncology, Hannover Medical School</institution>, 30625 Hannover,<country>Germany</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="a28"><institution>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital</institution>, 2730 Herlev,<country>Denmark</country></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="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="a18"><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, 20141 Milan,<country>Italy</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="a29"><institution>Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology</institution>, 70376 Stuttgart,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a30"><institution>University of Tübingen</institution> 72074 Tübingen,<country>Germany</country></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="a15"><institution>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a31"><institution>Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT)</institution>, 69120 Heidelberg,<country>Germany</country></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="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="a33"><institution>Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine</institution>, Salt Lake City Utah 84112,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldes">Trinidad Caldes</name><affiliation><nlm:aff id="a34"><institution>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC</institution>, Madrid 28040,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Caligo, Maria A" sort="Caligo, Maria A" uniqKey="Caligo M" first="Maria A." last="Caligo">Maria A. Caligo</name><affiliation><nlm:aff id="a35"><institution>Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa</institution>, I-56126 Pisa,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Canzian, Federico" sort="Canzian, Federico" uniqKey="Canzian F" first="Federico" last="Canzian">Federico Canzian</name><affiliation><nlm:aff id="a36"><institution>Genomic Epidemiology Group, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Carpenter, Jane" sort="Carpenter, Jane" uniqKey="Carpenter J" first="Jane" last="Carpenter">Jane Carpenter</name><affiliation><nlm:aff id="a37"><institution>Australian Breast Cancer Tissue Bank, Westmead Millennium Institute, University of Sydney</institution>, Sydney, New South Wales 2145,<country>Australia</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="a38"><institution>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</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="a39"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation><nlm:aff id="a40"><institution>Departments of Pediatrics and Medicine, Columbia University</institution>, New York, New York 10032,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Claes, Kathleen B M" sort="Claes, Kathleen B M" uniqKey="Claes K" first="Kathleen B. M." last="Claes">Kathleen B. M. Claes</name><affiliation><nlm:aff id="a41"><institution>Center for Medical Genetics, Ghent University</institution>, 9000 Ghent,<country>Belgium</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="a42"><institution>Sheffield Cancer Research Centre, Department of Oncology, University of Sheffield</institution>, Sheffield S10 2RX,<country>UK</country></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="a43"><institution>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield</institution>, Sheffield S10 2HQ,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Cunningham, Julie M" sort="Cunningham, Julie M" uniqKey="Cunningham J" first="Julie M." last="Cunningham">Julie M. Cunningham</name><affiliation><nlm:aff id="a1"><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Daly, Mary B" sort="Daly, Mary B" uniqKey="Daly M" first="Mary B." last="Daly">Mary B. Daly</name><affiliation><nlm:aff id="a45"><institution>Department of Clinical Genetics, Fox Chase Cancer Center</institution>, Philadelphia, Pennsylvania 19111,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Damiola, Francesca" sort="Damiola, Francesca" uniqKey="Damiola F" first="Francesca" last="Damiola">Francesca Damiola</name><affiliation><nlm:aff id="a46"><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation><nlm:aff id="a34"><institution>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC</institution>, Madrid 28040,<country>Spain</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 id="a47"><institution>Department of Human Genetics and Department of Pathology, Leiden University Medical Center</institution>, Leiden 2333 ZC,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Diez">Orland Diez</name><affiliation><nlm:aff id="a48"><institution>Oncogenetics Group, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autònoma de Barcelona</institution>, 08035 Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Ding, Yuan C" sort="Ding, Yuan C" uniqKey="Ding Y" first="Yuan C." last="Ding">Yuan C. Ding</name><affiliation><nlm:aff id="a49"><institution>Department of Population Sciences, Beckman Research Institute of City of Hope</institution>, Duarte, California 91010,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff id="a50"><institution>Cancer Bioimmunotherapy Unit, CRO Aviano National Cancer Institute</institution>, 33081 Aviano ,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name><affiliation><nlm:aff id="a51"><institution>Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania</institution>, Pennsylvania 19104,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Dorfling, Cecilia M" sort="Dorfling, Cecilia M" uniqKey="Dorfling C" first="Cecilia M." last="Dorfling">Cecilia M. Dorfling</name><affiliation><nlm:aff id="a52"><institution>Department of Genetics, University of Pretoria</institution>, Pretoria 0007,<country>South Africa</country></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="a53"><institution>Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine</institution>, London, WC1E 7HT,<country>UK</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="a54"><institution>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</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="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana M" sort="Eccles, Diana M" uniqKey="Eccles D" first="Diana M." last="Eccles">Diana M. Eccles</name><affiliation><nlm:aff id="a56"><institution>Faculty of Medicine, University of Southampton, University Hospital Southampton</institution>, Southampton, Hampshire SO16 6YD,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff id="a57"><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>, Uppsala SE-751 85,<country>Sweden</country></nlm:aff></affiliation><affiliation><nlm:aff id="a58"><institution>Department of Clinical Genetics, Lund University Hospital</institution>, SE-22185 Lund,<country>Sweden</country></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="a59"><institution>Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a60"><institution>Comprehensive Cancer Center -EMN</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Eliassen, Heather" sort="Eliassen, Heather" uniqKey="Eliassen H" first="Heather" last="Eliassen">Heather Eliassen</name><affiliation><nlm:aff id="a61"><institution>Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</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="a21"><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Figueroa, Jonine" sort="Figueroa, Jonine" uniqKey="Figueroa J" first="Jonine" last="Figueroa">Jonine Figueroa</name><affiliation><nlm:aff id="a39"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</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="a63"><institution>Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf</institution>, 20246 Hamburg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Forsti, Asta" sort="Forsti, Asta" uniqKey="Forsti A" first="Asta" last="Försti">Asta Försti</name><affiliation><nlm:aff id="a64"><institution>Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a65"><institution>Center for Primary Health Care Research, Lund University</institution>, SE-221 00 Malmö,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Fostira, Florentia" sort="Fostira, Florentia" uniqKey="Fostira F" first="Florentia" last="Fostira">Florentia Fostira</name><affiliation><nlm:aff id="a66"><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos', Aghia Paraskevi Attikis</institution>, 15310 Athens,<country>Greece</country></nlm:aff></affiliation></author><author><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D." last="Foulkes">William D. Foulkes</name><affiliation><nlm:aff id="a67"><institution>Program in Cancer Genetics, McGill University</institution>, Montreal, Quebec,<country>Canada</country> H3A 0G4</nlm:aff></affiliation></author><author><name sortKey="Friebel, Tara" sort="Friebel, Tara" uniqKey="Friebel T" first="Tara" last="Friebel">Tara Friebel</name><affiliation><nlm:aff id="a68"><institution>University of</institution>, Philadelphia, Pennsylvania 19104,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation><nlm:aff id="a69"><institution>Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center</institution>, Tel-Hashomer 52621,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Gabrielson, Marike" sort="Gabrielson, Marike" uniqKey="Gabrielson M" first="Marike" last="Gabrielson">Marike Gabrielson</name><affiliation><nlm:aff id="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Gammon, Marilie D" sort="Gammon, Marilie D" uniqKey="Gammon M" first="Marilie D." last="Gammon">Marilie D. Gammon</name><affiliation><nlm:aff id="a70"><institution>Department of Epidemiology, University of</institution>, Chapel Hill, North Carolina 27599-7400,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Ganz, Patricia A" sort="Ganz, Patricia A" uniqKey="Ganz P" first="Patricia A." last="Ganz">Patricia A. Ganz</name><affiliation><nlm:aff id="a71"><institution>UCLA Schools of Medicine and Public Health, Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center</institution>, Los Angeles, California 90095-6900,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gapstur, Susan M" sort="Gapstur, Susan M" uniqKey="Gapstur S" first="Susan M." last="Gapstur">Susan M. Gapstur</name><affiliation><nlm:aff id="a72"><institution>Epidemiology Research Program, American Cancer Society</institution>, Atlanta, Georgia 30303,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Garber, Judy" sort="Garber, Judy" uniqKey="Garber J" first="Judy" last="Garber">Judy Garber</name><affiliation><nlm:aff id="a73"><institution>Cancer Risk and Prevention Clinic, Dana Farber Cancer Institute</institution>, Boston, Massachusetts 02215,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gaudet, Mia M" sort="Gaudet, Mia M" uniqKey="Gaudet M" first="Mia M." last="Gaudet">Mia M. Gaudet</name><affiliation><nlm:aff id="a72"><institution>Epidemiology Research Program, American Cancer Society</institution>, Atlanta, Georgia 30303,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gayther, Simon A" sort="Gayther, Simon A" uniqKey="Gayther S" first="Simon A." last="Gayther">Simon A. Gayther</name><affiliation><nlm:aff id="a74"><institution>Department of Biomedical Sciences, Cedars Sinai Medical Center</institution>, Los Angeles, California 90048,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation><nlm:aff id="a75"><institution>Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital</institution>, DK-2100 Copenhagen,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Ghoussaini, Maya" sort="Ghoussaini, Maya" uniqKey="Ghoussaini M" first="Maya" last="Ghoussaini">Maya Ghoussaini</name><affiliation><nlm:aff id="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></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="a76"><institution>Cancer Epidemiology Centre, Cancer Council Victoria</institution>, Melbourne, Victoria 3010,<country>Australia</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="a12"><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</nlm:aff></affiliation></author><author><name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K." last="Godwin">Andrew K. Godwin</name><affiliation><nlm:aff id="a77"><institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>, Kansas City, Kansas, 66205,<country>USA</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="a78"><institution>Department of Medicine, McGill University</institution>, Montreal, Quebec,<country>Canada</country> H3G 2M1</nlm:aff></affiliation><affiliation><nlm:aff id="a79"><institution>Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital</institution>, Montreal, Quebec,<country>Canada</country> H4A 3J1</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="a80"><institution>Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine</institution>, Salt Lake City, Utah 84132,<country>USA</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="a81"><institution>Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H." last="Greene">Mark H. Greene</name><affiliation><nlm:aff id="a82"><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850-9772,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gronwald, Jacek" sort="Gronwald, Jacek" uniqKey="Gronwald J" first="Jacek" last="Gronwald">Jacek Gronwald</name><affiliation><nlm:aff id="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</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="a84"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>, 70-115 Villejuif,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gunter, Marc" sort="Gunter, Marc" uniqKey="Gunter M" first="Marc" last="Gunter">Marc Gunter</name><affiliation><nlm:aff id="a85"><institution>Department of of Epidemiology and Biostatistics, School of Public Health, Imperial College London</institution>, London, SW7 2AZ,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Haeberle, Lothar" sort="Haeberle, Lothar" uniqKey="Haeberle L" first="Lothar" last="Haeberle">Lothar Haeberle</name><affiliation><nlm:aff id="a21"><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></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="a86"><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</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="a87"><institution>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name><affiliation><nlm:aff id="a88"><institution>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital</institution>, DK-2100 Copenhagen,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Hart, Steven" sort="Hart, Steven" uniqKey="Hart S" first="Steven" last="Hart">Steven Hart</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="a89"><institution>Department of Genetics, QIMR Berghofer Medical Research Institute</institution>, Brisbane, Queensland 4029,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Heikkinen, Tuomas" sort="Heikkinen, Tuomas" uniqKey="Heikkinen T" first="Tuomas" last="Heikkinen">Tuomas Heikkinen</name><affiliation><nlm:aff id="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a90"><institution>Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</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="a86"><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Herzog, Josef" sort="Herzog, Josef" uniqKey="Herzog J" first="Josef" last="Herzog">Josef Herzog</name><affiliation><nlm:aff id="a91"><institution>Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network</institution>, Duarte, California 91010,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans B L" sort="Hogervorst, Frans B L" uniqKey="Hogervorst F" first="Frans B. L." last="Hogervorst">Frans B. L. Hogervorst</name><affiliation><nlm:aff id="a92"><institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>, Amsterdam 1000 BE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Hollestelle, Antoinette" sort="Hollestelle, Antoinette" uniqKey="Hollestelle A" first="Antoinette" last="Hollestelle">Antoinette Hollestelle</name><affiliation><nlm:aff id="a93"><institution>Department of Medical Oncology, Erasmus MC Cancer Institute</institution>, Rotterdam 3008 AE,<country>The Netherlands</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="a94"><institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam 3008 AE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Hoover, Robert N" sort="Hoover, Robert N" uniqKey="Hoover R" first="Robert N." last="Hoover">Robert N. Hoover</name><affiliation><nlm:aff id="a39"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</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="a95"><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J." last="Hunter">David J. Hunter</name><affiliation><nlm:aff id="a96"><institution>Program in Molecular and Genetic Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Huzarski, Tomasz" sort="Huzarski, Tomasz" uniqKey="Huzarski T" first="Tomasz" last="Huzarski">Tomasz Huzarski</name><affiliation><nlm:aff id="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Imyanitov, Evgeny N" sort="Imyanitov, Evgeny N" uniqKey="Imyanitov E" first="Evgeny N." last="Imyanitov">Evgeny N. Imyanitov</name><affiliation><nlm:aff id="a97"><institution>N.N. Petrov Institute of Oncology</institution>, 197758 St Petersburg,<country>Russia</country></nlm:aff></affiliation></author><author><name sortKey="Isaacs, Claudine" sort="Isaacs, Claudine" uniqKey="Isaacs C" first="Claudine" last="Isaacs">Claudine Isaacs</name><affiliation><nlm:aff id="a98"><institution>Lombardi Comprehensive Cancer Center, Georgetown University</institution>, Washington, DC 20007,<country>USA</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="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="James, Paul" sort="James, Paul" uniqKey="James P" first="Paul" last="James">Paul James</name><affiliation><nlm:aff id="a99"><institution>Familial Cancer Centre, Peter MacCallum Cancer Centre</institution>, Melbourne, Victoria 8006,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="a100"><institution>Department of Oncology, The University of Melbourne</institution>, Melbourne, Victoria 8006,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Janavicius, Ramunas" sort="Janavicius, Ramunas" uniqKey="Janavicius R" first="Ramunas" last="Janavicius">Ramunas Janavicius</name><affiliation><nlm:aff id="a101"><institution>State Research Institute Centre for Innovative Medicine</institution>, LT-08661 Vilnius,<country>Lithuania</country></nlm:aff></affiliation></author><author><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><affiliation><nlm:aff id="a102"><institution>Department of Clinical Genetics, Aarhus University Hospital</institution>, 8200 Aarhus N,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="a103"><institution>Department of Epidemiology, Cancer Prevention Institute of California</institution>, Fremont, California 94538,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Jones, Michael" sort="Jones, Michael" uniqKey="Jones M" first="Michael" last="Jones">Michael Jones</name><affiliation><nlm:aff id="a104"><institution>Division of Genetics and Epidemiology, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name><affiliation><nlm:aff id="a87"><institution>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Kar, Siddhartha" sort="Kar, Siddhartha" uniqKey="Kar S" first="Siddhartha" last="Kar">Siddhartha Kar</name><affiliation><nlm:aff id="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Karlan, Beth Y" sort="Karlan, Beth Y" uniqKey="Karlan B" first="Beth Y." last="Karlan">Beth Y. Karlan</name><affiliation><nlm:aff id="a105"><institution>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center</institution>, Los Angeles, California, 90048,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name><affiliation><nlm:aff id="a106"><institution>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Khaw, Kay Tee" sort="Khaw, Kay Tee" uniqKey="Khaw K" first="Kay-Tee" last="Khaw">Kay-Tee Khaw</name><affiliation><nlm:aff id="a107"><institution>Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kibriya, Muhammad G" sort="Kibriya, Muhammad G" uniqKey="Kibriya M" first="Muhammad G." last="Kibriya">Muhammad G. Kibriya</name><affiliation><nlm:aff id="a7"><institution>Department of Health Studies, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></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="a108"><institution>Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</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="a109"><institution>Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus</institution>, 53113 Bonn,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, Irene" sort="Konstantopoulou, Irene" uniqKey="Konstantopoulou I" first="Irene" last="Konstantopoulou">Irene Konstantopoulou</name><affiliation><nlm:aff id="a66"><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos', Aghia Paraskevi Attikis</institution>, 15310 Athens,<country>Greece</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="a110"><institution>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland</institution>, FI-70211 Kuopio,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name><affiliation><nlm:aff id="a5"><institution>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet</institution>, N-0310 Oslo,<country>Norway</country></nlm:aff></affiliation></author><author><name sortKey="Kwong, Ava" sort="Kwong, Ava" uniqKey="Kwong A" first="Ava" last="Kwong">Ava Kwong</name><affiliation><nlm:aff id="a111"><institution>The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital</institution>, Hong Kong</nlm:aff></affiliation><affiliation><nlm:aff id="a112"><institution>Department of Surgery, The University of Hong Kong</institution>, Hong Kong,<country>China</country></nlm:aff></affiliation></author><author><name sortKey="Laitman, Yael" sort="Laitman, Yael" uniqKey="Laitman Y" first="Yael" last="Laitman">Yael Laitman</name><affiliation><nlm:aff id="a69"><institution>Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center</institution>, Tel-Hashomer 52621,<country>Israel</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="a113"><institution>Vesalius Research Center, VIB</institution>, 3000 Leuven,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name><affiliation><nlm:aff id="a114"><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology</institution>, 08908 Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Lee, Eunjung" sort="Lee, Eunjung" uniqKey="Lee E" first="Eunjung" last="Lee">Eunjung Lee</name><affiliation><nlm:aff id="a115"><institution>Department of Preventive Medicine, University of Southern California</institution>, Los Angeles, California 90032,<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="a116"><institution>Cancer Epidemiology Program, University of Cancer Center</institution>, Honolulu, Hawaii 96813,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lester, Jenny" sort="Lester, Jenny" uniqKey="Lester J" first="Jenny" last="Lester">Jenny Lester</name><affiliation><nlm:aff id="a105"><institution>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center</institution>, Los Angeles, California, 90048,<country>USA</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="a117"><institution>Department of Molecular Medicine and Surgery, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane" sort="Lindor, Noralane" uniqKey="Lindor N" first="Noralane" last="Lindor">Noralane Lindor</name><affiliation><nlm:aff id="a118"><institution>Health Sciences Research, Mayo Clinic</institution>, Scotsdale, Arizona 85259,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lindstrom, Sara" sort="Lindstrom, Sara" uniqKey="Lindstrom S" first="Sara" last="Lindstrom">Sara Lindstrom</name><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a119"><institution>Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Liu, Jianjun" sort="Liu, Jianjun" uniqKey="Liu J" first="Jianjun" last="Liu">Jianjun Liu</name><affiliation><nlm:aff id="a120"><institution>Human Genetics Division, Genome Institute of Singapore</institution>, Singapore 138672,<country>Singapore</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="a121"><institution>Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine</institution>, Nashville, Tennessee 37203,<country>USA</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="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="a82"><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850-9772,<country>USA</country></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="a95"><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Malone, Kathleen E" sort="Malone, Kathleen E" uniqKey="Malone K" first="Kathleen E." last="Malone">Kathleen E. Malone</name><affiliation><nlm:aff id="a122"><institution>Division of Public Health Sciences, Fred Hutchinson Cancer Research Center</institution>, Seattle, Washington 98109,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a123"><institution>Department of Epidemiology, School of Public Health and Community Medicine, University of Washington</institution>, Seattle, Washington 98195,<country>USA</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="a110"><institution>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland</institution>, FI-70211 Kuopio,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="a124"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></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="a17"><institution>Department of Oncology, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name><affiliation><nlm:aff id="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Martens, John W M" sort="Martens, John W M" uniqKey="Martens J" first="John W. M." last="Martens">John W. M. Martens</name><affiliation><nlm:aff id="a93"><institution>Department of Medical Oncology, Erasmus MC Cancer Institute</institution>, Rotterdam 3008 AE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><nlm:aff id="a125"><institution>Department of Gynaecology and Obstetrics, Technical University of Munich</institution>, 81675 Munich,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Miller, Austin" sort="Miller, Austin" uniqKey="Miller A" first="Austin" last="Miller">Austin Miller</name><affiliation><nlm:aff id="a126"><institution>NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</country></nlm:aff></affiliation></author><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="a76"><institution>Cancer Epidemiology Centre, Cancer Council Victoria</institution>, Melbourne, Victoria 3010,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Miron, Penelope" sort="Miron, Penelope" uniqKey="Miron P" first="Penelope" last="Miron">Penelope Miron</name><affiliation><nlm:aff id="a127"><institution>Department of Genomics and Genome Sciences, Case Western Reserve University Medical School</institution>, Cleveland, Ohio 44106,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name><affiliation><nlm:aff id="a6"><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV—IRCCS</institution>, 20133 Padua,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><nlm:aff id="a46"><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna M" sort="Mulligan, Anna M" uniqKey="Mulligan A" first="Anna M." last="Mulligan">Anna M. Mulligan</name><affiliation><nlm:aff id="a128"><institution>Laboratory Medicine Program, University Health Network</institution>, Toronto, Ontario,<country>Canada</country> M5B 1W8</nlm:aff></affiliation><affiliation><nlm:aff id="a129"><institution>Department of Laboratory Medicine and Pathobiology, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country> M5B 1W8</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="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a90"><institution>Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name><affiliation><nlm:aff id="a51"><institution>Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania</institution>, Pennsylvania 19104,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name><affiliation><nlm:aff id="a49"><institution>Department of Population Sciences, Beckman Research Institute of City of Hope</institution>, Duarte, California 91010,<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="a106"><institution>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</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="a28"><institution>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital</institution>, 2730 Herlev,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Nussbaum, Robert L" sort="Nussbaum, Robert L" uniqKey="Nussbaum R" first="Robert L." last="Nussbaum">Robert L. Nussbaum</name><affiliation><nlm:aff id="a130"><institution>Invitae Corporation</institution>, San Francisco, California 94107,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="a131"><institution>Department of Medicine, Memorial Sloan-Kettering Cancer Center</institution>, New York, New York 10065,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Olah, Edith" sort="Olah, Edith" uniqKey="Olah E" first="Edith" last="Olah">Edith Olah</name><affiliation><nlm:aff id="a132"><institution>Department of Molecular Genetics, National Institute of Oncology</institution>, H-1122 Budapest,<country>Hungary</country></nlm:aff></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I." last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:aff id="a133"><institution>Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center</institution>, Chicago, Illinois 60637,<country>USA</country></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="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="a22"><institution>Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</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="a134"><institution>Department of Preventive Medicine and Biomedical Science, Seoul National University College of Medicine and Cancer Research Institute, Seoul National University</institution>, 110-799 Seoul,<country>Republic of Korea</country></nlm:aff></affiliation></author><author><name sortKey="Peeters, Petra H" sort="Peeters, Petra H" uniqKey="Peeters P" first="Petra H." last="Peeters">Petra H. Peeters</name><affiliation><nlm:aff id="a135"><institution>Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center</institution>, Utrecht 3508 GA,<country>The Netherlands</country></nlm:aff></affiliation><affiliation><nlm:aff id="a136"><institution>MRC-PHE Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London</institution>, London SW7 2AZ,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="a124"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></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="a137"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, 20133 Milan,<country>Italy</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="a53"><institution>Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine</institution>, London, WC1E 7HT,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Phelan, Catherine M" sort="Phelan, Catherine M" uniqKey="Phelan C" first="Catherine M." last="Phelan">Catherine M. Phelan</name><affiliation><nlm:aff id="a4"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Pilarski, Robert" sort="Pilarski, Robert" uniqKey="Pilarski R" first="Robert" last="Pilarski">Robert Pilarski</name><affiliation><nlm:aff id="a138"><institution>Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University</institution>, Columbus, Ohio 43210,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation><nlm:aff id="a41"><institution>Center for Medical Genetics, Ghent University</institution>, 9000 Ghent,<country>Belgium</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="a139"><institution>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital</institution>, FI-90220 Oulu,<country>Finland</country></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="a140"><institution>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Rahman, Nazneen" sort="Rahman, Nazneen" uniqKey="Rahman N" first="Nazneen" last="Rahman">Nazneen Rahman</name><affiliation><nlm:aff id="a141"><institution>Section of Cancer Genetics, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Rantala, Johanna" sort="Rantala, Johanna" uniqKey="Rantala J" first="Johanna" last="Rantala">Johanna Rantala</name><affiliation><nlm:aff id="a142"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Rappaport, Christine" sort="Rappaport, Christine" uniqKey="Rappaport C" first="Christine" last="Rappaport">Christine Rappaport</name><affiliation><nlm:aff id="a143"><institution>Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna</institution>, A 1090 Vienna,<country>Austria</country></nlm:aff></affiliation></author><author><name sortKey="Rennert, Gad" sort="Rennert, Gad" uniqKey="Rennert G" first="Gad" last="Rennert">Gad Rennert</name><affiliation><nlm:aff id="a144"><institution>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine</institution>, Haifa 34362,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Richardson, Andrea" sort="Richardson, Andrea" uniqKey="Richardson A" first="Andrea" last="Richardson">Andrea Richardson</name><affiliation><nlm:aff id="a145"><institution>Department of Pathology, Johns Hopkins University School of Medicine</institution>, Baltimore, Maryland, 21205,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="a131"><institution>Department of Medicine, Memorial Sloan-Kettering Cancer Center</institution>, New York, New York 10065,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Romieu, Isabelle" sort="Romieu, Isabelle" uniqKey="Romieu I" first="Isabelle" last="Romieu">Isabelle Romieu</name><affiliation><nlm:aff id="a146"><institution>International Agency for Research on Cancer</institution>, 69008 Lyon,<country>France</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="a38"><institution>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Rutgers, Emiel J" sort="Rutgers, Emiel J" uniqKey="Rutgers E" first="Emiel J." last="Rutgers">Emiel J. Rutgers</name><affiliation><nlm:aff id="a147"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>, Amsterdam 1006 BE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Sanchez, Maria Jose" sort="Sanchez, Maria Jose" uniqKey="Sanchez M" first="Maria-Jose" last="Sanchez">Maria-Jose Sanchez</name><affiliation><nlm:aff id="a148"><institution>Escuela Andaluza de Salud Pública. Instituto de Investigación Biosanitaria ibs.GRANADA, Hospitales Universitarios de Granada/Universidad de Granada</institution>, 18014 Granada,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="a149"><institution>CIBER de Epidemiología y Salud Pública (CIBERESP)</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Santella, Regina M" sort="Santella, Regina M" uniqKey="Santella R" first="Regina M." last="Santella">Regina M. Santella</name><affiliation><nlm:aff id="a150"><institution>Department of Environmental Health Sciences, Columbia University</institution>, New York, New York, 10032,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J." last="Sawyer">Elinor J. Sawyer</name><affiliation><nlm:aff id="a151"><institution>Research Oncology, Division of Cancer Studies, King's College London, Guy's Hospital</institution>, London SE1 9RT,<country>UK</country></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="a95"><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></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="a147"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>, Amsterdam 1006 BE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="a152"><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne</institution>, Cologne 50931,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a153"><institution>Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne</institution>, 50931 Cologne,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a154"><institution>Center for Molecular Medicine Cologne (CMMC), University of Cologne</institution>, 50931 Cologne,<country>Germany</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="a86"><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Scott, Rodney" sort="Scott, Rodney" uniqKey="Scott R" first="Rodney" last="Scott">Rodney Scott</name><affiliation><nlm:aff id="a155"><institution>Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital</institution>, Newcastle, New South Wales 2305,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Senter, Leigha" sort="Senter, Leigha" uniqKey="Senter L" first="Leigha" last="Senter">Leigha Senter</name><affiliation><nlm:aff id="a138"><institution>Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University</institution>, Columbus, Ohio 43210,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Sharma, Priyanka" sort="Sharma, Priyanka" uniqKey="Sharma P" first="Priyanka" last="Sharma">Priyanka Sharma</name><affiliation><nlm:aff id="a156"><institution>Department of Hematology and Oncology, University of Kansas Medical Center</institution>, Kansas City, Kansas 66205,<country>USA</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="a157"><institution>Centre Hospitalier Universitaire de Québec Research Center, Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</nlm:aff></affiliation></author><author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name><affiliation><nlm:aff id="a143"><institution>Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna</institution>, A 1090 Vienna,<country>Austria</country></nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="a46"><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="a158"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon—Centre Léon Bérard</institution>, 69373 Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name><affiliation><nlm:aff id="a157"><institution>Centre Hospitalier Universitaire de Québec Research Center, Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name><affiliation><nlm:aff id="a159"><institution>Department of Pathology, The University of Melbourne</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name><affiliation><nlm:aff id="a160"><institution>Hannover Medical School</institution>, 30625 Hannover,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Stenmark Askmalm, Marie" sort="Stenmark Askmalm, Marie" uniqKey="Stenmark Askmalm M" first="Marie" last="Stenmark-Askmalm">Marie Stenmark-Askmalm</name><affiliation><nlm:aff id="a161"><institution>Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University</institution>, SE-58185 Linköping,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="a162"><institution>Institut Curie, Department of Tumour Biology</institution>, 75248 Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="a163"><institution>Université Paris Descartes, Sorbonne Paris Cité</institution>, 75248 Paris,<country>France</country></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="a104"><institution>Division of Genetics and Epidemiology, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="a164"><institution>National Human Genome Research Institute, National Institutes of Health</institution>, Bethesda, Maryland 20892-2152,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Tamimi, Rulla" sort="Tamimi, Rulla" uniqKey="Tamimi R" first="Rulla" last="Tamimi">Rulla Tamimi</name><affiliation><nlm:aff id="a61"><institution>Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a119"><institution>Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Tapper, William" sort="Tapper, William" uniqKey="Tapper W" first="William" last="Tapper">William Tapper</name><affiliation><nlm:aff id="a56"><institution>Faculty of Medicine, University of Southampton, University Hospital Southampton</institution>, Southampton, Hampshire SO16 6YD,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Teixeira, Manuel R" sort="Teixeira, Manuel R" uniqKey="Teixeira M" first="Manuel R." last="Teixeira">Manuel R. Teixeira</name><affiliation><nlm:aff id="a165"><institution>Department of Genetics, Portuguese Oncology Institute</institution>, Porto, 4200-072,<country>Portugal</country></nlm:aff></affiliation><affiliation><nlm:aff id="a166"><institution>Biomedical Sciences Institute (ICBAS), Porto University</institution>, 4200-072 Porto,<country>Portugal</country></nlm:aff></affiliation></author><author><name sortKey="Teo, Soo Hwang" sort="Teo, Soo Hwang" uniqKey="Teo S" first="Soo-Hwang" last="Teo">Soo-Hwang Teo</name><affiliation><nlm:aff id="a167"><institution>Cancer Research Initiatives Foundation, Sime Darby Medical Centre</institution>, Subang Jaya 47500,<country>Malaysia</country></nlm:aff></affiliation><affiliation><nlm:aff id="a168"><institution>University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya</institution>, Kuala Lumpur 50603,<country>Malaysia</country></nlm:aff></affiliation></author><author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name><affiliation><nlm:aff id="a169"><institution>Department of Epidemiology, Mailman School of Public Health, Columbia University</institution>, New York, New York, 10032,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation><nlm:aff id="a170"><institution>Department of Clinical Genetics, Odense University Hospital</institution>, 5000 Odense C,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Thompson, Deborah" sort="Thompson, Deborah" uniqKey="Thompson D" first="Deborah" last="Thompson">Deborah Thompson</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name><affiliation><nlm:aff id="a171"><institution>Latvian Biomedical Research and Study Centre</institution>, LV-1067 Riga,<country>Latvia</country></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="a172"><institution>Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University</institution>, Columbus, Ohio, 43210,<country>USA</country></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="a173"><institution>Department of Surgical Oncology, Leiden University Medical Center</institution>, Leiden 2333 ZC,<country>The Netherlands</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="a174"><institution>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford</institution>, Oxford OX3 7BN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name><affiliation><nlm:aff id="a84"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>, 70-115 Villejuif,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name><affiliation><nlm:aff id="a159"><institution>Department of Pathology, The University of Melbourne</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Teule, Alex" sort="Teule, Alex" uniqKey="Teule A" first="Alex" last="Teulé">Alex Teulé</name><affiliation><nlm:aff id="a175"><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology</institution>, 08908 Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Tumino, Rosario" sort="Tumino, Rosario" uniqKey="Tumino R" first="Rosario" last="Tumino">Rosario Tumino</name><affiliation><nlm:aff id="a176"><institution>Cancer Registry and Histopathology Unit, ‘Civic—M.P. 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P." last="Pharoah">Paul D. P. Pharoah</name><affiliation><nlm:aff id="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Monteiro, Alvaro A N" sort="Monteiro, Alvaro A N" uniqKey="Monteiro A" first="Alvaro A. N." last="Monteiro">Alvaro A. N. Monteiro</name><affiliation><nlm:aff id="a4"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</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="a191"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850,<country>USA</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="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C." last="Antoniou">Antonis C. Antoniou</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27117709</idno><idno type="pmc">4853421</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853421</idno><idno type="RBID">PMC:4853421</idno><idno type="doi">10.1038/ncomms11375</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000768</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000768</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer</title><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="a1"><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Kuchenbaecker, Karoline B" sort="Kuchenbaecker, Karoline B" uniqKey="Kuchenbaecker K" first="Karoline B." last="Kuchenbaecker">Karoline B. Kuchenbaecker</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></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="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mendoza Fandino, Gustavo A" sort="Mendoza Fandino, Gustavo A" uniqKey="Mendoza Fandino G" first="Gustavo A." last="Mendoza-Fandino">Gustavo A. Mendoza-Fandino</name><affiliation><nlm:aff id="a4"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Nord, Silje" sort="Nord, Silje" uniqKey="Nord S" first="Silje" last="Nord">Silje Nord</name><affiliation><nlm:aff id="a5"><institution>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet</institution>, N-0310 Oslo,<country>Norway</country></nlm:aff></affiliation></author><author><name sortKey="Lilyquist, Janna" sort="Lilyquist, Janna" uniqKey="Lilyquist J" first="Janna" last="Lilyquist">Janna Lilyquist</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="a6"><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV—IRCCS</institution>, 20133 Padua,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Ahsan, Habibul" sort="Ahsan, Habibul" uniqKey="Ahsan H" first="Habibul" last="Ahsan">Habibul Ahsan</name><affiliation><nlm:aff id="a7"><institution>Department of Health Studies, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a8"><institution>Comprehensive Cancer Center, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a9"><institution>Departments of Medicine and Human Genetics, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</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="a10"><institution>Department of Clinical Genetics, Helsinki University Central Hospital</institution>, 00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Ambrosone, Christine" sort="Ambrosone, Christine" uniqKey="Ambrosone C" first="Christine" last="Ambrosone">Christine Ambrosone</name><affiliation><nlm:aff id="a11"><institution>Department of Cancer Prevention and Control, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="a12"><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</nlm:aff></affiliation><affiliation><nlm:aff id="a13"><institution>Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto</institution>, Ontario,<country>Canada</country> M5B 1W8</nlm:aff></affiliation></author><author><name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation><nlm:aff id="a14"><institution>Department of Epidemiology, University of California Irvine</institution>, Irvine, California, 92697,<country>USA</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="a15"><institution>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Arun, Banu K" sort="Arun, Banu K" uniqKey="Arun B" first="Banu K." last="Arun">Banu K. Arun</name><affiliation><nlm:aff id="a16"><institution>University of Texas MD Anderson Cancer Center</institution>, Houston, Texas 77030,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Arver, Brita" sort="Arver, Brita" uniqKey="Arver B" first="Brita" last="Arver">Brita Arver</name><affiliation><nlm:aff id="a17"><institution>Department of Oncology, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</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="a18"><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, 20141 Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Barkardottir, Rosa B" sort="Barkardottir, Rosa B" uniqKey="Barkardottir R" first="Rosa B." last="Barkardottir">Rosa B. Barkardottir</name><affiliation><nlm:aff id="a19"><institution>Department of Pathology, Landspitali University Hospital and University of Iceland School of Medicine</institution>, 101 Reykjavik,<country>Iceland</country></nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Beckmann, Lars" sort="Beckmann, Lars" uniqKey="Beckmann L" first="Lars" last="Beckmann">Lars Beckmann</name><affiliation><nlm:aff id="a20"><institution>Institute for Quality and Efficiency in Health Care (IQWiG)</institution>, 50670 Cologne,<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="a21"><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="a22"><institution>Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="a23"><institution>Genotyping Unit (CeGen), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="a24"><institution>Biomedical Network on Rare Diseases (CIBERER)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Blank, Stephanie V" sort="Blank, Stephanie V" uniqKey="Blank S" first="Stephanie V." last="Blank">Stephanie V. Blank</name><affiliation><nlm:aff id="a25"><institution>NYU Women's Cancer Program, New York University School of Medicine</institution>, New York, New York 10016,<country>USA</country></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="a26"><institution>Department of Oncology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Bogdanova, Natalia V" sort="Bogdanova, Natalia V" uniqKey="Bogdanova N" first="Natalia V." last="Bogdanova">Natalia V. Bogdanova</name><affiliation><nlm:aff id="a27"><institution>Department of Radiation Oncology, Hannover Medical School</institution>, 30625 Hannover,<country>Germany</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="a28"><institution>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital</institution>, 2730 Herlev,<country>Denmark</country></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="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="a18"><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, 20141 Milan,<country>Italy</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="a29"><institution>Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology</institution>, 70376 Stuttgart,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a30"><institution>University of Tübingen</institution> 72074 Tübingen,<country>Germany</country></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="a15"><institution>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a31"><institution>Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT)</institution>, 69120 Heidelberg,<country>Germany</country></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="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="a33"><institution>Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine</institution>, Salt Lake City Utah 84112,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldes">Trinidad Caldes</name><affiliation><nlm:aff id="a34"><institution>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC</institution>, Madrid 28040,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Caligo, Maria A" sort="Caligo, Maria A" uniqKey="Caligo M" first="Maria A." last="Caligo">Maria A. Caligo</name><affiliation><nlm:aff id="a35"><institution>Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa</institution>, I-56126 Pisa,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Canzian, Federico" sort="Canzian, Federico" uniqKey="Canzian F" first="Federico" last="Canzian">Federico Canzian</name><affiliation><nlm:aff id="a36"><institution>Genomic Epidemiology Group, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Carpenter, Jane" sort="Carpenter, Jane" uniqKey="Carpenter J" first="Jane" last="Carpenter">Jane Carpenter</name><affiliation><nlm:aff id="a37"><institution>Australian Breast Cancer Tissue Bank, Westmead Millennium Institute, University of Sydney</institution>, Sydney, New South Wales 2145,<country>Australia</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="a38"><institution>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</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="a39"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation><nlm:aff id="a40"><institution>Departments of Pediatrics and Medicine, Columbia University</institution>, New York, New York 10032,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Claes, Kathleen B M" sort="Claes, Kathleen B M" uniqKey="Claes K" first="Kathleen B. M." last="Claes">Kathleen B. M. Claes</name><affiliation><nlm:aff id="a41"><institution>Center for Medical Genetics, Ghent University</institution>, 9000 Ghent,<country>Belgium</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="a42"><institution>Sheffield Cancer Research Centre, Department of Oncology, University of Sheffield</institution>, Sheffield S10 2RX,<country>UK</country></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="a43"><institution>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield</institution>, Sheffield S10 2HQ,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Cunningham, Julie M" sort="Cunningham, Julie M" uniqKey="Cunningham J" first="Julie M." last="Cunningham">Julie M. Cunningham</name><affiliation><nlm:aff id="a1"><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Daly, Mary B" sort="Daly, Mary B" uniqKey="Daly M" first="Mary B." last="Daly">Mary B. Daly</name><affiliation><nlm:aff id="a45"><institution>Department of Clinical Genetics, Fox Chase Cancer Center</institution>, Philadelphia, Pennsylvania 19111,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Damiola, Francesca" sort="Damiola, Francesca" uniqKey="Damiola F" first="Francesca" last="Damiola">Francesca Damiola</name><affiliation><nlm:aff id="a46"><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation><nlm:aff id="a34"><institution>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC</institution>, Madrid 28040,<country>Spain</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 id="a47"><institution>Department of Human Genetics and Department of Pathology, Leiden University Medical Center</institution>, Leiden 2333 ZC,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Diez">Orland Diez</name><affiliation><nlm:aff id="a48"><institution>Oncogenetics Group, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autònoma de Barcelona</institution>, 08035 Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Ding, Yuan C" sort="Ding, Yuan C" uniqKey="Ding Y" first="Yuan C." last="Ding">Yuan C. Ding</name><affiliation><nlm:aff id="a49"><institution>Department of Population Sciences, Beckman Research Institute of City of Hope</institution>, Duarte, California 91010,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff id="a50"><institution>Cancer Bioimmunotherapy Unit, CRO Aviano National Cancer Institute</institution>, 33081 Aviano ,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Domchek, Susan M" sort="Domchek, Susan M" uniqKey="Domchek S" first="Susan M." last="Domchek">Susan M. Domchek</name><affiliation><nlm:aff id="a51"><institution>Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania</institution>, Pennsylvania 19104,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Dorfling, Cecilia M" sort="Dorfling, Cecilia M" uniqKey="Dorfling C" first="Cecilia M." last="Dorfling">Cecilia M. Dorfling</name><affiliation><nlm:aff id="a52"><institution>Department of Genetics, University of Pretoria</institution>, Pretoria 0007,<country>South Africa</country></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="a53"><institution>Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine</institution>, London, WC1E 7HT,<country>UK</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="a54"><institution>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</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="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana M" sort="Eccles, Diana M" uniqKey="Eccles D" first="Diana M." last="Eccles">Diana M. Eccles</name><affiliation><nlm:aff id="a56"><institution>Faculty of Medicine, University of Southampton, University Hospital Southampton</institution>, Southampton, Hampshire SO16 6YD,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff id="a57"><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>, Uppsala SE-751 85,<country>Sweden</country></nlm:aff></affiliation><affiliation><nlm:aff id="a58"><institution>Department of Clinical Genetics, Lund University Hospital</institution>, SE-22185 Lund,<country>Sweden</country></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="a59"><institution>Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a60"><institution>Comprehensive Cancer Center -EMN</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Eliassen, Heather" sort="Eliassen, Heather" uniqKey="Eliassen H" first="Heather" last="Eliassen">Heather Eliassen</name><affiliation><nlm:aff id="a61"><institution>Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</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="a21"><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Figueroa, Jonine" sort="Figueroa, Jonine" uniqKey="Figueroa J" first="Jonine" last="Figueroa">Jonine Figueroa</name><affiliation><nlm:aff id="a39"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</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="a63"><institution>Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf</institution>, 20246 Hamburg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Forsti, Asta" sort="Forsti, Asta" uniqKey="Forsti A" first="Asta" last="Försti">Asta Försti</name><affiliation><nlm:aff id="a64"><institution>Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a65"><institution>Center for Primary Health Care Research, Lund University</institution>, SE-221 00 Malmö,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Fostira, Florentia" sort="Fostira, Florentia" uniqKey="Fostira F" first="Florentia" last="Fostira">Florentia Fostira</name><affiliation><nlm:aff id="a66"><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos', Aghia Paraskevi Attikis</institution>, 15310 Athens,<country>Greece</country></nlm:aff></affiliation></author><author><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D." last="Foulkes">William D. Foulkes</name><affiliation><nlm:aff id="a67"><institution>Program in Cancer Genetics, McGill University</institution>, Montreal, Quebec,<country>Canada</country> H3A 0G4</nlm:aff></affiliation></author><author><name sortKey="Friebel, Tara" sort="Friebel, Tara" uniqKey="Friebel T" first="Tara" last="Friebel">Tara Friebel</name><affiliation><nlm:aff id="a68"><institution>University of</institution>, Philadelphia, Pennsylvania 19104,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation><nlm:aff id="a69"><institution>Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center</institution>, Tel-Hashomer 52621,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Gabrielson, Marike" sort="Gabrielson, Marike" uniqKey="Gabrielson M" first="Marike" last="Gabrielson">Marike Gabrielson</name><affiliation><nlm:aff id="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Gammon, Marilie D" sort="Gammon, Marilie D" uniqKey="Gammon M" first="Marilie D." last="Gammon">Marilie D. Gammon</name><affiliation><nlm:aff id="a70"><institution>Department of Epidemiology, University of</institution>, Chapel Hill, North Carolina 27599-7400,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Ganz, Patricia A" sort="Ganz, Patricia A" uniqKey="Ganz P" first="Patricia A." last="Ganz">Patricia A. Ganz</name><affiliation><nlm:aff id="a71"><institution>UCLA Schools of Medicine and Public Health, Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center</institution>, Los Angeles, California 90095-6900,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gapstur, Susan M" sort="Gapstur, Susan M" uniqKey="Gapstur S" first="Susan M." last="Gapstur">Susan M. Gapstur</name><affiliation><nlm:aff id="a72"><institution>Epidemiology Research Program, American Cancer Society</institution>, Atlanta, Georgia 30303,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Garber, Judy" sort="Garber, Judy" uniqKey="Garber J" first="Judy" last="Garber">Judy Garber</name><affiliation><nlm:aff id="a73"><institution>Cancer Risk and Prevention Clinic, Dana Farber Cancer Institute</institution>, Boston, Massachusetts 02215,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gaudet, Mia M" sort="Gaudet, Mia M" uniqKey="Gaudet M" first="Mia M." last="Gaudet">Mia M. Gaudet</name><affiliation><nlm:aff id="a72"><institution>Epidemiology Research Program, American Cancer Society</institution>, Atlanta, Georgia 30303,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gayther, Simon A" sort="Gayther, Simon A" uniqKey="Gayther S" first="Simon A." last="Gayther">Simon A. Gayther</name><affiliation><nlm:aff id="a74"><institution>Department of Biomedical Sciences, Cedars Sinai Medical Center</institution>, Los Angeles, California 90048,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation><nlm:aff id="a75"><institution>Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital</institution>, DK-2100 Copenhagen,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Ghoussaini, Maya" sort="Ghoussaini, Maya" uniqKey="Ghoussaini M" first="Maya" last="Ghoussaini">Maya Ghoussaini</name><affiliation><nlm:aff id="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></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="a76"><institution>Cancer Epidemiology Centre, Cancer Council Victoria</institution>, Melbourne, Victoria 3010,<country>Australia</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="a12"><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</nlm:aff></affiliation></author><author><name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K." last="Godwin">Andrew K. Godwin</name><affiliation><nlm:aff id="a77"><institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>, Kansas City, Kansas, 66205,<country>USA</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="a78"><institution>Department of Medicine, McGill University</institution>, Montreal, Quebec,<country>Canada</country> H3G 2M1</nlm:aff></affiliation><affiliation><nlm:aff id="a79"><institution>Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital</institution>, Montreal, Quebec,<country>Canada</country> H4A 3J1</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="a80"><institution>Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine</institution>, Salt Lake City, Utah 84132,<country>USA</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="a81"><institution>Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H." last="Greene">Mark H. Greene</name><affiliation><nlm:aff id="a82"><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850-9772,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Gronwald, Jacek" sort="Gronwald, Jacek" uniqKey="Gronwald J" first="Jacek" last="Gronwald">Jacek Gronwald</name><affiliation><nlm:aff id="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</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="a84"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>, 70-115 Villejuif,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gunter, Marc" sort="Gunter, Marc" uniqKey="Gunter M" first="Marc" last="Gunter">Marc Gunter</name><affiliation><nlm:aff id="a85"><institution>Department of of Epidemiology and Biostatistics, School of Public Health, Imperial College London</institution>, London, SW7 2AZ,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Haeberle, Lothar" sort="Haeberle, Lothar" uniqKey="Haeberle L" first="Lothar" last="Haeberle">Lothar Haeberle</name><affiliation><nlm:aff id="a21"><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></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="a86"><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</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="a87"><institution>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name><affiliation><nlm:aff id="a88"><institution>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital</institution>, DK-2100 Copenhagen,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Hart, Steven" sort="Hart, Steven" uniqKey="Hart S" first="Steven" last="Hart">Steven Hart</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="a89"><institution>Department of Genetics, QIMR Berghofer Medical Research Institute</institution>, Brisbane, Queensland 4029,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Heikkinen, Tuomas" sort="Heikkinen, Tuomas" uniqKey="Heikkinen T" first="Tuomas" last="Heikkinen">Tuomas Heikkinen</name><affiliation><nlm:aff id="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a90"><institution>Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</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="a86"><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Herzog, Josef" sort="Herzog, Josef" uniqKey="Herzog J" first="Josef" last="Herzog">Josef Herzog</name><affiliation><nlm:aff id="a91"><institution>Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network</institution>, Duarte, California 91010,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Hogervorst, Frans B L" sort="Hogervorst, Frans B L" uniqKey="Hogervorst F" first="Frans B. L." last="Hogervorst">Frans B. L. Hogervorst</name><affiliation><nlm:aff id="a92"><institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>, Amsterdam 1000 BE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Hollestelle, Antoinette" sort="Hollestelle, Antoinette" uniqKey="Hollestelle A" first="Antoinette" last="Hollestelle">Antoinette Hollestelle</name><affiliation><nlm:aff id="a93"><institution>Department of Medical Oncology, Erasmus MC Cancer Institute</institution>, Rotterdam 3008 AE,<country>The Netherlands</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="a94"><institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam 3008 AE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Hoover, Robert N" sort="Hoover, Robert N" uniqKey="Hoover R" first="Robert N." last="Hoover">Robert N. Hoover</name><affiliation><nlm:aff id="a39"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</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="a95"><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J." last="Hunter">David J. Hunter</name><affiliation><nlm:aff id="a96"><institution>Program in Molecular and Genetic Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Huzarski, Tomasz" sort="Huzarski, Tomasz" uniqKey="Huzarski T" first="Tomasz" last="Huzarski">Tomasz Huzarski</name><affiliation><nlm:aff id="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Imyanitov, Evgeny N" sort="Imyanitov, Evgeny N" uniqKey="Imyanitov E" first="Evgeny N." last="Imyanitov">Evgeny N. Imyanitov</name><affiliation><nlm:aff id="a97"><institution>N.N. Petrov Institute of Oncology</institution>, 197758 St Petersburg,<country>Russia</country></nlm:aff></affiliation></author><author><name sortKey="Isaacs, Claudine" sort="Isaacs, Claudine" uniqKey="Isaacs C" first="Claudine" last="Isaacs">Claudine Isaacs</name><affiliation><nlm:aff id="a98"><institution>Lombardi Comprehensive Cancer Center, Georgetown University</institution>, Washington, DC 20007,<country>USA</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="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="James, Paul" sort="James, Paul" uniqKey="James P" first="Paul" last="James">Paul James</name><affiliation><nlm:aff id="a99"><institution>Familial Cancer Centre, Peter MacCallum Cancer Centre</institution>, Melbourne, Victoria 8006,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="a100"><institution>Department of Oncology, The University of Melbourne</institution>, Melbourne, Victoria 8006,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Janavicius, Ramunas" sort="Janavicius, Ramunas" uniqKey="Janavicius R" first="Ramunas" last="Janavicius">Ramunas Janavicius</name><affiliation><nlm:aff id="a101"><institution>State Research Institute Centre for Innovative Medicine</institution>, LT-08661 Vilnius,<country>Lithuania</country></nlm:aff></affiliation></author><author><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><affiliation><nlm:aff id="a102"><institution>Department of Clinical Genetics, Aarhus University Hospital</institution>, 8200 Aarhus N,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="a103"><institution>Department of Epidemiology, Cancer Prevention Institute of California</institution>, Fremont, California 94538,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Jones, Michael" sort="Jones, Michael" uniqKey="Jones M" first="Michael" last="Jones">Michael Jones</name><affiliation><nlm:aff id="a104"><institution>Division of Genetics and Epidemiology, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name><affiliation><nlm:aff id="a87"><institution>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Kar, Siddhartha" sort="Kar, Siddhartha" uniqKey="Kar S" first="Siddhartha" last="Kar">Siddhartha Kar</name><affiliation><nlm:aff id="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Karlan, Beth Y" sort="Karlan, Beth Y" uniqKey="Karlan B" first="Beth Y." last="Karlan">Beth Y. Karlan</name><affiliation><nlm:aff id="a105"><institution>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center</institution>, Los Angeles, California, 90048,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name><affiliation><nlm:aff id="a106"><institution>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Khaw, Kay Tee" sort="Khaw, Kay Tee" uniqKey="Khaw K" first="Kay-Tee" last="Khaw">Kay-Tee Khaw</name><affiliation><nlm:aff id="a107"><institution>Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kibriya, Muhammad G" sort="Kibriya, Muhammad G" uniqKey="Kibriya M" first="Muhammad G." last="Kibriya">Muhammad G. Kibriya</name><affiliation><nlm:aff id="a7"><institution>Department of Health Studies, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></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="a108"><institution>Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</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="a109"><institution>Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus</institution>, 53113 Bonn,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, Irene" sort="Konstantopoulou, Irene" uniqKey="Konstantopoulou I" first="Irene" last="Konstantopoulou">Irene Konstantopoulou</name><affiliation><nlm:aff id="a66"><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos', Aghia Paraskevi Attikis</institution>, 15310 Athens,<country>Greece</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="a110"><institution>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland</institution>, FI-70211 Kuopio,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name><affiliation><nlm:aff id="a5"><institution>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet</institution>, N-0310 Oslo,<country>Norway</country></nlm:aff></affiliation></author><author><name sortKey="Kwong, Ava" sort="Kwong, Ava" uniqKey="Kwong A" first="Ava" last="Kwong">Ava Kwong</name><affiliation><nlm:aff id="a111"><institution>The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital</institution>, Hong Kong</nlm:aff></affiliation><affiliation><nlm:aff id="a112"><institution>Department of Surgery, The University of Hong Kong</institution>, Hong Kong,<country>China</country></nlm:aff></affiliation></author><author><name sortKey="Laitman, Yael" sort="Laitman, Yael" uniqKey="Laitman Y" first="Yael" last="Laitman">Yael Laitman</name><affiliation><nlm:aff id="a69"><institution>Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center</institution>, Tel-Hashomer 52621,<country>Israel</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="a113"><institution>Vesalius Research Center, VIB</institution>, 3000 Leuven,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name><affiliation><nlm:aff id="a114"><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology</institution>, 08908 Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Lee, Eunjung" sort="Lee, Eunjung" uniqKey="Lee E" first="Eunjung" last="Lee">Eunjung Lee</name><affiliation><nlm:aff id="a115"><institution>Department of Preventive Medicine, University of Southern California</institution>, Los Angeles, California 90032,<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="a116"><institution>Cancer Epidemiology Program, University of Cancer Center</institution>, Honolulu, Hawaii 96813,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lester, Jenny" sort="Lester, Jenny" uniqKey="Lester J" first="Jenny" last="Lester">Jenny Lester</name><affiliation><nlm:aff id="a105"><institution>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center</institution>, Los Angeles, California, 90048,<country>USA</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="a117"><institution>Department of Molecular Medicine and Surgery, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane" sort="Lindor, Noralane" uniqKey="Lindor N" first="Noralane" last="Lindor">Noralane Lindor</name><affiliation><nlm:aff id="a118"><institution>Health Sciences Research, Mayo Clinic</institution>, Scotsdale, Arizona 85259,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Lindstrom, Sara" sort="Lindstrom, Sara" uniqKey="Lindstrom S" first="Sara" last="Lindstrom">Sara Lindstrom</name><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a119"><institution>Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Liu, Jianjun" sort="Liu, Jianjun" uniqKey="Liu J" first="Jianjun" last="Liu">Jianjun Liu</name><affiliation><nlm:aff id="a120"><institution>Human Genetics Division, Genome Institute of Singapore</institution>, Singapore 138672,<country>Singapore</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="a121"><institution>Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine</institution>, Nashville, Tennessee 37203,<country>USA</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="a83"><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="a82"><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850-9772,<country>USA</country></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="a95"><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Malone, Kathleen E" sort="Malone, Kathleen E" uniqKey="Malone K" first="Kathleen E." last="Malone">Kathleen E. Malone</name><affiliation><nlm:aff id="a122"><institution>Division of Public Health Sciences, Fred Hutchinson Cancer Research Center</institution>, Seattle, Washington 98109,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a123"><institution>Department of Epidemiology, School of Public Health and Community Medicine, University of Washington</institution>, Seattle, Washington 98195,<country>USA</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="a110"><institution>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland</institution>, FI-70211 Kuopio,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="a124"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></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="a17"><institution>Department of Oncology, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name><affiliation><nlm:aff id="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Martens, John W M" sort="Martens, John W M" uniqKey="Martens J" first="John W. M." last="Martens">John W. M. Martens</name><affiliation><nlm:aff id="a93"><institution>Department of Medical Oncology, Erasmus MC Cancer Institute</institution>, Rotterdam 3008 AE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><nlm:aff id="a125"><institution>Department of Gynaecology and Obstetrics, Technical University of Munich</institution>, 81675 Munich,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Miller, Austin" sort="Miller, Austin" uniqKey="Miller A" first="Austin" last="Miller">Austin Miller</name><affiliation><nlm:aff id="a126"><institution>NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</country></nlm:aff></affiliation></author><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="a76"><institution>Cancer Epidemiology Centre, Cancer Council Victoria</institution>, Melbourne, Victoria 3010,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Miron, Penelope" sort="Miron, Penelope" uniqKey="Miron P" first="Penelope" last="Miron">Penelope Miron</name><affiliation><nlm:aff id="a127"><institution>Department of Genomics and Genome Sciences, Case Western Reserve University Medical School</institution>, Cleveland, Ohio 44106,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name><affiliation><nlm:aff id="a6"><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV—IRCCS</institution>, 20133 Padua,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><nlm:aff id="a46"><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna M" sort="Mulligan, Anna M" uniqKey="Mulligan A" first="Anna M." last="Mulligan">Anna M. Mulligan</name><affiliation><nlm:aff id="a128"><institution>Laboratory Medicine Program, University Health Network</institution>, Toronto, Ontario,<country>Canada</country> M5B 1W8</nlm:aff></affiliation><affiliation><nlm:aff id="a129"><institution>Department of Laboratory Medicine and Pathobiology, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country> M5B 1W8</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="a32"><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a90"><institution>Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name><affiliation><nlm:aff id="a51"><institution>Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania</institution>, Pennsylvania 19104,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name><affiliation><nlm:aff id="a49"><institution>Department of Population Sciences, Beckman Research Institute of City of Hope</institution>, Duarte, California 91010,<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="a106"><institution>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</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="a28"><institution>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital</institution>, 2730 Herlev,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Nussbaum, Robert L" sort="Nussbaum, Robert L" uniqKey="Nussbaum R" first="Robert L." last="Nussbaum">Robert L. Nussbaum</name><affiliation><nlm:aff id="a130"><institution>Invitae Corporation</institution>, San Francisco, California 94107,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="a131"><institution>Department of Medicine, Memorial Sloan-Kettering Cancer Center</institution>, New York, New York 10065,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Olah, Edith" sort="Olah, Edith" uniqKey="Olah E" first="Edith" last="Olah">Edith Olah</name><affiliation><nlm:aff id="a132"><institution>Department of Molecular Genetics, National Institute of Oncology</institution>, H-1122 Budapest,<country>Hungary</country></nlm:aff></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I." last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:aff id="a133"><institution>Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center</institution>, Chicago, Illinois 60637,<country>USA</country></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="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="a22"><institution>Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</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="a134"><institution>Department of Preventive Medicine and Biomedical Science, Seoul National University College of Medicine and Cancer Research Institute, Seoul National University</institution>, 110-799 Seoul,<country>Republic of Korea</country></nlm:aff></affiliation></author><author><name sortKey="Peeters, Petra H" sort="Peeters, Petra H" uniqKey="Peeters P" first="Petra H." last="Peeters">Petra H. Peeters</name><affiliation><nlm:aff id="a135"><institution>Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center</institution>, Utrecht 3508 GA,<country>The Netherlands</country></nlm:aff></affiliation><affiliation><nlm:aff id="a136"><institution>MRC-PHE Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London</institution>, London SW7 2AZ,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="a124"><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></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="a137"><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, 20133 Milan,<country>Italy</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="a53"><institution>Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine</institution>, London, WC1E 7HT,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Phelan, Catherine M" sort="Phelan, Catherine M" uniqKey="Phelan C" first="Catherine M." last="Phelan">Catherine M. Phelan</name><affiliation><nlm:aff id="a4"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Pilarski, Robert" sort="Pilarski, Robert" uniqKey="Pilarski R" first="Robert" last="Pilarski">Robert Pilarski</name><affiliation><nlm:aff id="a138"><institution>Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University</institution>, Columbus, Ohio 43210,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation><nlm:aff id="a41"><institution>Center for Medical Genetics, Ghent University</institution>, 9000 Ghent,<country>Belgium</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="a139"><institution>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital</institution>, FI-90220 Oulu,<country>Finland</country></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="a140"><institution>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Rahman, Nazneen" sort="Rahman, Nazneen" uniqKey="Rahman N" first="Nazneen" last="Rahman">Nazneen Rahman</name><affiliation><nlm:aff id="a141"><institution>Section of Cancer Genetics, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Rantala, Johanna" sort="Rantala, Johanna" uniqKey="Rantala J" first="Johanna" last="Rantala">Johanna Rantala</name><affiliation><nlm:aff id="a142"><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Rappaport, Christine" sort="Rappaport, Christine" uniqKey="Rappaport C" first="Christine" last="Rappaport">Christine Rappaport</name><affiliation><nlm:aff id="a143"><institution>Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna</institution>, A 1090 Vienna,<country>Austria</country></nlm:aff></affiliation></author><author><name sortKey="Rennert, Gad" sort="Rennert, Gad" uniqKey="Rennert G" first="Gad" last="Rennert">Gad Rennert</name><affiliation><nlm:aff id="a144"><institution>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine</institution>, Haifa 34362,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Richardson, Andrea" sort="Richardson, Andrea" uniqKey="Richardson A" first="Andrea" last="Richardson">Andrea Richardson</name><affiliation><nlm:aff id="a145"><institution>Department of Pathology, Johns Hopkins University School of Medicine</institution>, Baltimore, Maryland, 21205,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="a131"><institution>Department of Medicine, Memorial Sloan-Kettering Cancer Center</institution>, New York, New York 10065,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Romieu, Isabelle" sort="Romieu, Isabelle" uniqKey="Romieu I" first="Isabelle" last="Romieu">Isabelle Romieu</name><affiliation><nlm:aff id="a146"><institution>International Agency for Research on Cancer</institution>, 69008 Lyon,<country>France</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="a38"><institution>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Rutgers, Emiel J" sort="Rutgers, Emiel J" uniqKey="Rutgers E" first="Emiel J." last="Rutgers">Emiel J. Rutgers</name><affiliation><nlm:aff id="a147"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>, Amsterdam 1006 BE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Sanchez, Maria Jose" sort="Sanchez, Maria Jose" uniqKey="Sanchez M" first="Maria-Jose" last="Sanchez">Maria-Jose Sanchez</name><affiliation><nlm:aff id="a148"><institution>Escuela Andaluza de Salud Pública. Instituto de Investigación Biosanitaria ibs.GRANADA, Hospitales Universitarios de Granada/Universidad de Granada</institution>, 18014 Granada,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="a149"><institution>CIBER de Epidemiología y Salud Pública (CIBERESP)</institution>,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Santella, Regina M" sort="Santella, Regina M" uniqKey="Santella R" first="Regina M." last="Santella">Regina M. Santella</name><affiliation><nlm:aff id="a150"><institution>Department of Environmental Health Sciences, Columbia University</institution>, New York, New York, 10032,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J." last="Sawyer">Elinor J. Sawyer</name><affiliation><nlm:aff id="a151"><institution>Research Oncology, Division of Cancer Studies, King's College London, Guy's Hospital</institution>, London SE1 9RT,<country>UK</country></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="a95"><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></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="a147"><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>, Amsterdam 1006 BE,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="a152"><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne</institution>, Cologne 50931,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a153"><institution>Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne</institution>, 50931 Cologne,<country>Germany</country></nlm:aff></affiliation><affiliation><nlm:aff id="a154"><institution>Center for Molecular Medicine Cologne (CMMC), University of Cologne</institution>, 50931 Cologne,<country>Germany</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="a86"><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Scott, Rodney" sort="Scott, Rodney" uniqKey="Scott R" first="Rodney" last="Scott">Rodney Scott</name><affiliation><nlm:aff id="a155"><institution>Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital</institution>, Newcastle, New South Wales 2305,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Senter, Leigha" sort="Senter, Leigha" uniqKey="Senter L" first="Leigha" last="Senter">Leigha Senter</name><affiliation><nlm:aff id="a138"><institution>Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University</institution>, Columbus, Ohio 43210,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Sharma, Priyanka" sort="Sharma, Priyanka" uniqKey="Sharma P" first="Priyanka" last="Sharma">Priyanka Sharma</name><affiliation><nlm:aff id="a156"><institution>Department of Hematology and Oncology, University of Kansas Medical Center</institution>, Kansas City, Kansas 66205,<country>USA</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="a157"><institution>Centre Hospitalier Universitaire de Québec Research Center, Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</nlm:aff></affiliation></author><author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name><affiliation><nlm:aff id="a143"><institution>Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna</institution>, A 1090 Vienna,<country>Austria</country></nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="a46"><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="a158"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon—Centre Léon Bérard</institution>, 69373 Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name><affiliation><nlm:aff id="a157"><institution>Centre Hospitalier Universitaire de Québec Research Center, Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name><affiliation><nlm:aff id="a159"><institution>Department of Pathology, The University of Melbourne</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name><affiliation><nlm:aff id="a160"><institution>Hannover Medical School</institution>, 30625 Hannover,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Stenmark Askmalm, Marie" sort="Stenmark Askmalm, Marie" uniqKey="Stenmark Askmalm M" first="Marie" last="Stenmark-Askmalm">Marie Stenmark-Askmalm</name><affiliation><nlm:aff id="a161"><institution>Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University</institution>, SE-58185 Linköping,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="a162"><institution>Institut Curie, Department of Tumour Biology</institution>, 75248 Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="a163"><institution>Université Paris Descartes, Sorbonne Paris Cité</institution>, 75248 Paris,<country>France</country></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="a104"><institution>Division of Genetics and Epidemiology, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="a164"><institution>National Human Genome Research Institute, National Institutes of Health</institution>, Bethesda, Maryland 20892-2152,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Tamimi, Rulla" sort="Tamimi, Rulla" uniqKey="Tamimi R" first="Rulla" last="Tamimi">Rulla Tamimi</name><affiliation><nlm:aff id="a61"><institution>Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a119"><institution>Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Tapper, William" sort="Tapper, William" uniqKey="Tapper W" first="William" last="Tapper">William Tapper</name><affiliation><nlm:aff id="a56"><institution>Faculty of Medicine, University of Southampton, University Hospital Southampton</institution>, Southampton, Hampshire SO16 6YD,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Teixeira, Manuel R" sort="Teixeira, Manuel R" uniqKey="Teixeira M" first="Manuel R." last="Teixeira">Manuel R. Teixeira</name><affiliation><nlm:aff id="a165"><institution>Department of Genetics, Portuguese Oncology Institute</institution>, Porto, 4200-072,<country>Portugal</country></nlm:aff></affiliation><affiliation><nlm:aff id="a166"><institution>Biomedical Sciences Institute (ICBAS), Porto University</institution>, 4200-072 Porto,<country>Portugal</country></nlm:aff></affiliation></author><author><name sortKey="Teo, Soo Hwang" sort="Teo, Soo Hwang" uniqKey="Teo S" first="Soo-Hwang" last="Teo">Soo-Hwang Teo</name><affiliation><nlm:aff id="a167"><institution>Cancer Research Initiatives Foundation, Sime Darby Medical Centre</institution>, Subang Jaya 47500,<country>Malaysia</country></nlm:aff></affiliation><affiliation><nlm:aff id="a168"><institution>University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya</institution>, Kuala Lumpur 50603,<country>Malaysia</country></nlm:aff></affiliation></author><author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name><affiliation><nlm:aff id="a169"><institution>Department of Epidemiology, Mailman School of Public Health, Columbia University</institution>, New York, New York, 10032,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation><nlm:aff id="a170"><institution>Department of Clinical Genetics, Odense University Hospital</institution>, 5000 Odense C,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Thompson, Deborah" sort="Thompson, Deborah" uniqKey="Thompson D" first="Deborah" last="Thompson">Deborah Thompson</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name><affiliation><nlm:aff id="a171"><institution>Latvian Biomedical Research and Study Centre</institution>, LV-1067 Riga,<country>Latvia</country></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="a172"><institution>Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University</institution>, Columbus, Ohio, 43210,<country>USA</country></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="a173"><institution>Department of Surgical Oncology, Leiden University Medical Center</institution>, Leiden 2333 ZC,<country>The Netherlands</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="a174"><institution>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford</institution>, Oxford OX3 7BN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name><affiliation><nlm:aff id="a84"><institution>Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer</institution>, 70-115 Villejuif,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name><affiliation><nlm:aff id="a159"><institution>Department of Pathology, The University of Melbourne</institution>, Melbourne, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Teule, Alex" sort="Teule, Alex" uniqKey="Teule A" first="Alex" last="Teulé">Alex Teulé</name><affiliation><nlm:aff id="a175"><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology</institution>, 08908 Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Tumino, Rosario" sort="Tumino, Rosario" uniqKey="Tumino R" first="Rosario" last="Tumino">Rosario Tumino</name><affiliation><nlm:aff id="a176"><institution>Cancer Registry and Histopathology Unit, ‘Civic—M.P. Arezzo' Hospital</institution>, 97100 ASP Ragusa,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Tung, Nadine" sort="Tung, Nadine" uniqKey="Tung N" first="Nadine" last="Tung">Nadine Tung</name><affiliation><nlm:aff id="a177"><institution>Department of Medical Oncology, Beth Israel Deaconess Medical Center</institution>, Boston, Massachusetts, 02215,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Turnbull, Clare" sort="Turnbull, Clare" uniqKey="Turnbull C" first="Clare" last="Turnbull">Clare Turnbull</name><affiliation><nlm:aff id="a141"><institution>Section of Cancer Genetics, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ursin, Giski" sort="Ursin, Giski" uniqKey="Ursin G" first="Giski" last="Ursin">Giski Ursin</name><affiliation><nlm:aff id="a178"><institution>Cancer Registry of Norway, Institute of Population-Based Cancer Research</institution>, N-0304 Oslo,<country>Norway</country></nlm:aff></affiliation></author><author><name sortKey="Van Deurzen, Carolien H M" sort="Van Deurzen, Carolien H M" uniqKey="Van Deurzen C" first="Carolien H. M." last="Van Deurzen">Carolien H. M. Van Deurzen</name><affiliation><nlm:aff id="a179"><institution>Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam 3000 CA,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elizabeth J" sort="Van Rensburg, Elizabeth J" uniqKey="Van Rensburg E" first="Elizabeth J." last="Van Rensburg">Elizabeth J. Van Rensburg</name><affiliation><nlm:aff id="a52"><institution>Department of Genetics, University of Pretoria</institution>, Pretoria 0007,<country>South Africa</country></nlm:aff></affiliation></author><author><name sortKey="Varon Mateeva, Raymonda" sort="Varon Mateeva, Raymonda" uniqKey="Varon Mateeva R" first="Raymonda" last="Varon-Mateeva">Raymonda Varon-Mateeva</name><affiliation><nlm:aff id="a180"><institution>Institute of Human Genetics, Charite Berlin</institution>, 13353 Berlin,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Wang, Zhaoming" sort="Wang, Zhaoming" uniqKey="Wang Z" first="Zhaoming" last="Wang">Zhaoming Wang</name><affiliation><nlm:aff id="a181"><institution>Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Gaithersburg, Maryland 20877,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Wang Gohrke, Shan" sort="Wang Gohrke, Shan" uniqKey="Wang Gohrke S" first="Shan" last="Wang-Gohrke">Shan Wang-Gohrke</name><affiliation><nlm:aff id="a182"><institution>University Hospital Ulm</institution>, 89075 Ulm, ,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Weiderpass, Elisabete" sort="Weiderpass, Elisabete" uniqKey="Weiderpass E" first="Elisabete" last="Weiderpass">Elisabete Weiderpass</name><affiliation><nlm:aff id="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation><affiliation><nlm:aff id="a178"><institution>Cancer Registry of Norway, Institute of Population-Based Cancer Research</institution>, N-0304 Oslo,<country>Norway</country></nlm:aff></affiliation><affiliation><nlm:aff id="a183"><institution>Department of Community Medicine, Faculty of Health Sciences, University of Tromsø—The Arctic University of Norway</institution>, 9037 Tromsø,<country>Norway</country></nlm:aff></affiliation><affiliation><nlm:aff id="a184"><institution>Genetic Epidemiology Group, Folkhälsan Research Center</institution>, 2016 Helsinki,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Weitzel, Jeffrey N" sort="Weitzel, Jeffrey N" uniqKey="Weitzel J" first="Jeffrey N." last="Weitzel">Jeffrey N. Weitzel</name><affiliation><nlm:aff id="a91"><institution>Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network</institution>, Duarte, California 91010,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Whittemore, Alice" sort="Whittemore, Alice" uniqKey="Whittemore A" first="Alice" last="Whittemore">Alice Whittemore</name><affiliation><nlm:aff id="a185"><institution>Department of Health Research and Policy—Epidemiology, Stanford University School of Medicine</institution>, Stanford, California 94305,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Wildiers, Hans" sort="Wildiers, Hans" uniqKey="Wildiers H" first="Hans" last="Wildiers">Hans Wildiers</name><affiliation><nlm:aff id="a186"><institution>Multidisciplinary Breast Center, Department of General Medical Oncology, University Hospitals</institution>, B-3000 Leuven,<country>Belgium</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="a139"><institution>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital</institution>, FI-90220 Oulu,<country>Finland</country></nlm:aff></affiliation></author><author><name sortKey="Yang, Xiaohong R" sort="Yang, Xiaohong R" uniqKey="Yang X" first="Xiaohong R." last="Yang">Xiaohong R. Yang</name><affiliation><nlm:aff id="a187"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Bethesda, Maryland 20892,<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="a66"><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos', Aghia Paraskevi Attikis</institution>, 15310 Athens,<country>Greece</country></nlm:aff></affiliation></author><author><name sortKey="Yao, Song" sort="Yao, Song" uniqKey="Yao S" first="Song" last="Yao">Song Yao</name><affiliation><nlm:aff id="a11"><institution>Department of Cancer Prevention and Control, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</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="a188"><institution>Servicio de Oncología Médica, Hospital Universitario La Paz</institution>, 28046 Madrid,<country>Spain</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="a121"><institution>Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine</institution>, Nashville, Tennessee 37203,<country>USA</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="a44"><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Kraft, Peter" sort="Kraft, Peter" uniqKey="Kraft P" first="Peter" last="Kraft">Peter Kraft</name><affiliation><nlm:aff id="a62"><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a119"><institution>Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></nlm:aff></affiliation><affiliation><nlm:aff id="a189"><institution>Department of Biostatistics, Harvard School Of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></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="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name><affiliation><nlm:aff id="a2"><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</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="a190"><institution>Cancer Division, QIMR Berghofer Medical Research Institute</institution>, Brisbane, Queensland 4029,<country>Australia</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="a55"><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Monteiro, Alvaro A N" sort="Monteiro, Alvaro A N" uniqKey="Monteiro A" first="Alvaro A. N." last="Monteiro">Alvaro A. N. Monteiro</name><affiliation><nlm:aff id="a4"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</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="a191"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850,<country>USA</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="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C." last="Antoniou">Antonis C. Antoniou</name><affiliation><nlm:aff id="a3"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></nlm:aff></affiliation></author></analytic><series><title level="j">Nature Communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (<italic>P</italic><5 × 10<sup>−8</sup>) with oestrogen receptor (ER)-negative breast cancer and <italic>BRCA1</italic>-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 <italic>BRCA1</italic> mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near <italic>KLF5</italic>, a 2p23.2 locus near <italic>WDR43</italic> and a 2q33 locus near <italic>PPIL3</italic> that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (<italic>P</italic><0.05) with ER-negative disease. Using functional and eQTL studies we implicate <italic>TRMT61B</italic> and <italic>WDR43</italic> at 2p23.2 and <italic>PPIL3</italic> at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and <italic>BRCA1</italic> breast cancer risk prediction.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kamangar, F" uniqKey="Kamangar F">F. Kamangar</name></author><author><name sortKey="Dores, G M" uniqKey="Dores G">G. M. Dores</name></author><author><name sortKey="Anderson, W F" uniqKey="Anderson W">W. F. Anderson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Slattery, M L" uniqKey="Slattery M">M. L. Slattery</name></author><author><name sortKey="Kerber, R A" uniqKey="Kerber R">R. A. Kerber</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Michailidou, K" uniqKey="Michailidou K">K. Michailidou</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Easton, D F" uniqKey="Easton D">D. F. 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M.</given-names></name><xref ref-type="aff" rid="a179">179</xref></contrib><contrib contrib-type="author"><name><surname>van Rensburg</surname><given-names>Elizabeth J.</given-names></name><xref ref-type="aff" rid="a52">52</xref></contrib><contrib contrib-type="author"><name><surname>Varon-Mateeva</surname><given-names>Raymonda</given-names></name><xref ref-type="aff" rid="a180">180</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Zhaoming</given-names></name><xref ref-type="aff" rid="a181">181</xref></contrib><contrib contrib-type="author"><name><surname>Wang-Gohrke</surname><given-names>Shan</given-names></name><xref ref-type="aff" rid="a182">182</xref></contrib><contrib contrib-type="author"><name><surname>Weiderpass</surname><given-names>Elisabete</given-names></name><xref ref-type="aff" rid="a44">44</xref><xref ref-type="aff" rid="a178">178</xref><xref ref-type="aff" rid="a183">183</xref><xref ref-type="aff" rid="a184">184</xref></contrib><contrib contrib-type="author"><name><surname>Weitzel</surname><given-names>Jeffrey N.</given-names></name><xref ref-type="aff" rid="a91">91</xref></contrib><contrib contrib-type="author"><name><surname>Whittemore</surname><given-names>Alice</given-names></name><xref ref-type="aff" rid="a185">185</xref></contrib><contrib contrib-type="author"><name><surname>Wildiers</surname><given-names>Hans</given-names></name><xref ref-type="aff" rid="a186">186</xref></contrib><contrib contrib-type="author"><name><surname>Winqvist</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="a139">139</xref></contrib><contrib contrib-type="author"><name><surname>Yang</surname><given-names>Xiaohong R.</given-names></name><xref ref-type="aff" rid="a187">187</xref></contrib><contrib contrib-type="author"><name><surname>Yannoukakos</surname><given-names>Drakoulis</given-names></name><xref ref-type="aff" rid="a66">66</xref></contrib><contrib contrib-type="author"><name><surname>Yao</surname><given-names>Song</given-names></name><xref ref-type="aff" rid="a11">11</xref></contrib><contrib contrib-type="author"><name><surname>Zamora</surname><given-names>M Pilar</given-names></name><xref ref-type="aff" rid="a188">188</xref></contrib><contrib contrib-type="author"><name><surname>Zheng</surname><given-names>Wei</given-names></name><xref ref-type="aff" rid="a121">121</xref></contrib><contrib contrib-type="author"><name><surname>Hall</surname><given-names>Per</given-names></name><xref ref-type="aff" rid="a44">44</xref></contrib><contrib contrib-type="author"><name><surname>Kraft</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="a62">62</xref><xref ref-type="aff" rid="a119">119</xref><xref ref-type="aff" rid="a189">189</xref></contrib><contrib contrib-type="author"><name><surname>Vachon</surname><given-names>Celine</given-names></name><xref ref-type="aff" rid="a2">2</xref></contrib><contrib contrib-type="author"><name><surname>Slager</surname><given-names>Susan</given-names></name><xref ref-type="aff" rid="a2">2</xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="a190">190</xref><xref ref-type="author-notes" rid="n2">†</xref></contrib><contrib contrib-type="author"><name><surname>Pharoah</surname><given-names>Paul D. P.</given-names></name><xref ref-type="aff" rid="a55">55</xref><xref ref-type="author-notes" rid="n2">†</xref></contrib><contrib contrib-type="author"><name><surname>Monteiro</surname><given-names>Alvaro A. N.</given-names></name><xref ref-type="aff" rid="a4">4</xref><xref ref-type="author-notes" rid="n2">†</xref></contrib><contrib contrib-type="author"><name><surname>García-Closas</surname><given-names>Montserrat</given-names></name><xref ref-type="aff" rid="a191">191</xref><xref ref-type="author-notes" rid="n2">†</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="a3">3</xref><xref ref-type="author-notes" rid="n2">†</xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="a3">3</xref><xref ref-type="author-notes" rid="n2">†</xref></contrib><aff id="a1"><label>1</label><institution>Department of Laboratory Medicine and Pathology, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></aff><aff id="a2"><label>2</label><institution>Department of Health Sciences Research, Mayo Clinic</institution>, Rochester, Minnesota 55905,<country>USA</country></aff><aff id="a3"><label>3</label><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></aff><aff id="a4"><label>4</label><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>, Tampa, Florida 33612,<country>USA</country></aff><aff id="a5"><label>5</label><institution>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet</institution>, N-0310 Oslo,<country>Norway</country></aff><aff id="a6"><label>6</label><institution>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV—IRCCS</institution>, 20133 Padua,<country>Italy</country></aff><aff id="a7"><label>7</label><institution>Department of Health Studies, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></aff><aff id="a8"><label>8</label><institution>Comprehensive Cancer Center, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></aff><aff id="a9"><label>9</label><institution>Departments of Medicine and Human Genetics, The University of Chicago</institution>, Chicago, Illinois 60637,<country>USA</country></aff><aff id="a10"><label>10</label><institution>Department of Clinical Genetics, Helsinki University Central Hospital</institution>, 00029 Helsinki,<country>Finland</country></aff><aff id="a11"><label>11</label><institution>Department of Cancer Prevention and Control, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</country></aff><aff id="a12"><label>12</label><institution>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</aff><aff id="a13"><label>13</label><institution>Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto</institution>, Ontario,<country>Canada</country> M5B 1W8</aff><aff id="a14"><label>14</label><institution>Department of Epidemiology, University of California Irvine</institution>, Irvine, California, 92697,<country>USA</country></aff><aff id="a15"><label>15</label><institution>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a16"><label>16</label><institution>University of Texas MD Anderson Cancer Center</institution>, Houston, Texas 77030,<country>USA</country></aff><aff id="a17"><label>17</label><institution>Department of Oncology, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</country></aff><aff id="a18"><label>18</label><institution>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia</institution>, 20141 Milan,<country>Italy</country></aff><aff id="a19"><label>19</label><institution>Department of Pathology, Landspitali University Hospital and University of Iceland School of Medicine</institution>, 101 Reykjavik,<country>Iceland</country></aff><aff id="a20"><label>20</label><institution>Institute for Quality and Efficiency in Health Care (IQWiG)</institution>, 50670 Cologne,<country>Germany</country></aff><aff id="a21"><label>21</label><institution>University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN</institution>, 91054 Erlangen,<country>Germany</country></aff><aff id="a22"><label>22</label><institution>Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></aff><aff id="a23"><label>23</label><institution>Genotyping Unit (CeGen), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></aff><aff id="a24"><label>24</label><institution>Biomedical Network on Rare Diseases (CIBERER)</institution>, 28029 Madrid,<country>Spain</country></aff><aff id="a25"><label>25</label><institution>NYU Women's Cancer Program, New York University School of Medicine</institution>, New York, New York 10016,<country>USA</country></aff><aff id="a26"><label>26</label><institution>Department of Oncology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></aff><aff id="a27"><label>27</label><institution>Department of Radiation Oncology, Hannover Medical School</institution>, 30625 Hannover,<country>Germany</country></aff><aff id="a28"><label>28</label><institution>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital</institution>, 2730 Herlev,<country>Denmark</country></aff><aff id="a29"><label>29</label><institution>Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology</institution>, 70376 Stuttgart,<country>Germany</country></aff><aff id="a30"><label>30</label><institution>University of Tübingen</institution> 72074 Tübingen,<country>Germany</country></aff><aff id="a31"><label>31</label><institution>Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT)</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a32"><label>32</label><institution>Department of Obstetrics and Gynecology, University of Heidelberg</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a33"><label>33</label><institution>Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine</institution>, Salt Lake City Utah 84112,<country>USA</country></aff><aff id="a34"><label>34</label><institution>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC</institution>, Madrid 28040,<country>Spain</country></aff><aff id="a35"><label>35</label><institution>Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa</institution>, I-56126 Pisa,<country>Italy</country></aff><aff id="a36"><label>36</label><institution>Genomic Epidemiology Group, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a37"><label>37</label><institution>Australian Breast Cancer Tissue Bank, Westmead Millennium Institute, University of Sydney</institution>, Sydney, New South Wales 2145,<country>Australia</country></aff><aff id="a38"><label>38</label><institution>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a39"><label>39</label><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Rockville, Maryland 20850,<country>USA</country></aff><aff id="a40"><label>40</label><institution>Departments of Pediatrics and Medicine, Columbia University</institution>, New York, New York 10032,<country>USA</country></aff><aff id="a41"><label>41</label><institution>Center for Medical Genetics, Ghent University</institution>, 9000 Ghent,<country>Belgium</country></aff><aff id="a42"><label>42</label><institution>Sheffield Cancer Research Centre, Department of Oncology, University of Sheffield</institution>, Sheffield S10 2RX,<country>UK</country></aff><aff id="a43"><label>43</label><institution>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield</institution>, Sheffield S10 2HQ,<country>UK</country></aff><aff id="a44"><label>44</label><institution>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></aff><aff id="a45"><label>45</label><institution>Department of Clinical Genetics, Fox Chase Cancer Center</institution>, Philadelphia, Pennsylvania 19111,<country>USA</country></aff><aff id="a46"><label>46</label><institution>INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon</institution>, 69373 Lyon,<country>France</country></aff><aff id="a47"><label>47</label><institution>Department of Human Genetics and Department of Pathology, Leiden University Medical Center</institution>, Leiden 2333 ZC,<country>The Netherlands</country></aff><aff id="a48"><label>48</label><institution>Oncogenetics Group, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autònoma de Barcelona</institution>, 08035 Barcelona,<country>Spain</country></aff><aff id="a49"><label>49</label><institution>Department of Population Sciences, Beckman Research Institute of City of Hope</institution>, Duarte, California 91010,<country>USA</country></aff><aff id="a50"><label>50</label><institution>Cancer Bioimmunotherapy Unit, CRO Aviano National Cancer Institute</institution>, 33081 Aviano ,<country>Italy</country></aff><aff id="a51"><label>51</label><institution>Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania</institution>, Pennsylvania 19104,<country>USA</country></aff><aff id="a52"><label>52</label><institution>Department of Genetics, University of Pretoria</institution>, Pretoria 0007,<country>South Africa</country></aff><aff id="a53"><label>53</label><institution>Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine</institution>, London, WC1E 7HT,<country>UK</country></aff><aff id="a54"><label>54</label><institution>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</aff><aff id="a55"><label>55</label><institution>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</institution>, Cambridge CB1 8RN,<country>UK</country></aff><aff id="a56"><label>56</label><institution>Faculty of Medicine, University of Southampton, University Hospital Southampton</institution>, Southampton, Hampshire SO16 6YD,<country>UK</country></aff><aff id="a57"><label>57</label><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>, Uppsala SE-751 85,<country>Sweden</country></aff><aff id="a58"><label>58</label><institution>Department of Clinical Genetics, Lund University Hospital</institution>, SE-22185 Lund,<country>Sweden</country></aff><aff id="a59"><label>59</label><institution>Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg</institution>, 91054 Erlangen,<country>Germany</country></aff><aff id="a60"><label>60</label><institution>Comprehensive Cancer Center -EMN</institution>, 91054 Erlangen,<country>Germany</country></aff><aff id="a61"><label>61</label><institution>Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>, Boston, Massachusetts 02115,<country>USA</country></aff><aff id="a62"><label>62</label><institution>Department of Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></aff><aff id="a63"><label>63</label><institution>Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf</institution>, 20246 Hamburg,<country>Germany</country></aff><aff id="a64"><label>64</label><institution>Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a65"><label>65</label><institution>Center for Primary Health Care Research, Lund University</institution>, SE-221 00 Malmö,<country>Sweden</country></aff><aff id="a66"><label>66</label><institution>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos', Aghia Paraskevi Attikis</institution>, 15310 Athens,<country>Greece</country></aff><aff id="a67"><label>67</label><institution>Program in Cancer Genetics, McGill University</institution>, Montreal, Quebec,<country>Canada</country> H3A 0G4</aff><aff id="a68"><label>68</label><institution>University of</institution>, Philadelphia, Pennsylvania 19104,<country>USA</country></aff><aff id="a69"><label>69</label><institution>Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center</institution>, Tel-Hashomer 52621,<country>Israel</country></aff><aff id="a70"><label>70</label><institution>Department of Epidemiology, University of</institution>, Chapel Hill, North Carolina 27599-7400,<country>USA</country></aff><aff id="a71"><label>71</label><institution>UCLA Schools of Medicine and Public Health, Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center</institution>, Los Angeles, California 90095-6900,<country>USA</country></aff><aff id="a72"><label>72</label><institution>Epidemiology Research Program, American Cancer Society</institution>, Atlanta, Georgia 30303,<country>USA</country></aff><aff id="a73"><label>73</label><institution>Cancer Risk and Prevention Clinic, Dana Farber Cancer Institute</institution>, Boston, Massachusetts 02215,<country>USA</country></aff><aff id="a74"><label>74</label><institution>Department of Biomedical Sciences, Cedars Sinai Medical Center</institution>, Los Angeles, California 90048,<country>USA</country></aff><aff id="a75"><label>75</label><institution>Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital</institution>, DK-2100 Copenhagen,<country>Denmark</country></aff><aff id="a76"><label>76</label><institution>Cancer Epidemiology Centre, Cancer Council Victoria</institution>, Melbourne, Victoria 3010,<country>Australia</country></aff><aff id="a77"><label>77</label><institution>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center</institution>, Kansas City, Kansas, 66205,<country>USA</country></aff><aff id="a78"><label>78</label><institution>Department of Medicine, McGill University</institution>, Montreal, Quebec,<country>Canada</country> H3G 2M1</aff><aff id="a79"><label>79</label><institution>Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital</institution>, Montreal, Quebec,<country>Canada</country> H4A 3J1</aff><aff id="a80"><label>80</label><institution>Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine</institution>, Salt Lake City, Utah 84132,<country>USA</country></aff><aff id="a81"><label>81</label><institution>Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO)</institution>, 28029 Madrid,<country>Spain</country></aff><aff id="a82"><label>82</label><institution>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850-9772,<country>USA</country></aff><aff id="a83"><label>83</label><institution>Department of Genetics and Pathology, Pomeranian Medical University</institution>, Szczecin,<country>Poland</country></aff><aff id="a84"><label>84</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>, 70-115 Villejuif,<country>France</country></aff><aff id="a85"><label>85</label><institution>Department of of Epidemiology and Biostatistics, School of Public Health, Imperial College London</institution>, London, SW7 2AZ,<country>UK</country></aff><aff id="a86"><label>86</label><institution>Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center</institution>, Los Angeles, California 90033,<country>USA</country></aff><aff id="a87"><label>87</label><institution>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)</institution>, 69120 Heidelberg,<country>Germany</country></aff><aff id="a88"><label>88</label><institution>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital</institution>, DK-2100 Copenhagen,<country>Denmark</country></aff><aff id="a89"><label>89</label><institution>Department of Genetics, QIMR Berghofer Medical Research Institute</institution>, Brisbane, Queensland 4029,<country>Australia</country></aff><aff id="a90"><label>90</label><institution>Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></aff><aff id="a91"><label>91</label><institution>Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network</institution>, Duarte, California 91010,<country>USA</country></aff><aff id="a92"><label>92</label><institution>Family Cancer Clinic, Netherlands Cancer Institute</institution>, Amsterdam 1000 BE,<country>The Netherlands</country></aff><aff id="a93"><label>93</label><institution>Department of Medical Oncology, Erasmus MC Cancer Institute</institution>, Rotterdam 3008 AE,<country>The Netherlands</country></aff><aff id="a94"><label>94</label><institution>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam 3008 AE,<country>The Netherlands</country></aff><aff id="a95"><label>95</label><institution>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne</institution>, Melbourne, Victoria 3010,<country>Australia</country></aff><aff id="a96"><label>96</label><institution>Program in Molecular and Genetic Epidemiology, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></aff><aff id="a97"><label>97</label><institution>N.N. Petrov Institute of Oncology</institution>, 197758 St Petersburg,<country>Russia</country></aff><aff id="a98"><label>98</label><institution>Lombardi Comprehensive Cancer Center, Georgetown University</institution>, Washington, DC 20007,<country>USA</country></aff><aff id="a99"><label>99</label><institution>Familial Cancer Centre, Peter MacCallum Cancer Centre</institution>, Melbourne, Victoria 8006,<country>Australia</country></aff><aff id="a100"><label>100</label><institution>Department of Oncology, The University of Melbourne</institution>, Melbourne, Victoria 8006,<country>Australia</country></aff><aff id="a101"><label>101</label><institution>State Research Institute Centre for Innovative Medicine</institution>, LT-08661 Vilnius,<country>Lithuania</country></aff><aff id="a102"><label>102</label><institution>Department of Clinical Genetics, Aarhus University Hospital</institution>, 8200 Aarhus N,<country>Denmark</country></aff><aff id="a103"><label>103</label><institution>Department of Epidemiology, Cancer Prevention Institute of California</institution>, Fremont, California 94538,<country>USA</country></aff><aff id="a104"><label>104</label><institution>Division of Genetics and Epidemiology, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></aff><aff id="a105"><label>105</label><institution>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center</institution>, Los Angeles, California, 90048,<country>USA</country></aff><aff id="a106"><label>106</label><institution>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital</institution>, FI-00029 Helsinki,<country>Finland</country></aff><aff id="a107"><label>107</label><institution>Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory</institution>, Cambridge CB1 8RN,<country>UK</country></aff><aff id="a108"><label>108</label><institution>Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital</institution>, Toronto, Ontario,<country>Canada</country> M5G 1X5</aff><aff id="a109"><label>109</label><institution>Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus</institution>, 53113 Bonn,<country>Germany</country></aff><aff id="a110"><label>110</label><institution>School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland</institution>, FI-70211 Kuopio,<country>Finland</country></aff><aff id="a111"><label>111</label><institution>The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital</institution>, Hong Kong</aff><aff id="a112"><label>112</label><institution>Department of Surgery, The University of Hong Kong</institution>, Hong Kong,<country>China</country></aff><aff id="a113"><label>113</label><institution>Vesalius Research Center, VIB</institution>, 3000 Leuven,<country>Belgium</country></aff><aff id="a114"><label>114</label><institution>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology</institution>, 08908 Barcelona,<country>Spain</country></aff><aff id="a115"><label>115</label><institution>Department of Preventive Medicine, University of Southern California</institution>, Los Angeles, California 90032,<country>USA</country></aff><aff id="a116"><label>116</label><institution>Cancer Epidemiology Program, University of Cancer Center</institution>, Honolulu, Hawaii 96813,<country>USA</country></aff><aff id="a117"><label>117</label><institution>Department of Molecular Medicine and Surgery, Karolinska Institutet</institution>, SE-17177 Stockholm,<country>Sweden</country></aff><aff id="a118"><label>118</label><institution>Health Sciences Research, Mayo Clinic</institution>, Scotsdale, Arizona 85259,<country>USA</country></aff><aff id="a119"><label>119</label><institution>Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></aff><aff id="a120"><label>120</label><institution>Human Genetics Division, Genome Institute of Singapore</institution>, Singapore 138672,<country>Singapore</country></aff><aff id="a121"><label>121</label><institution>Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine</institution>, Nashville, Tennessee 37203,<country>USA</country></aff><aff id="a122"><label>122</label><institution>Division of Public Health Sciences, Fred Hutchinson Cancer Research Center</institution>, Seattle, Washington 98109,<country>USA</country></aff><aff id="a123"><label>123</label><institution>Department of Epidemiology, School of Public Health and Community Medicine, University of Washington</institution>, Seattle, Washington 98195,<country>USA</country></aff><aff id="a124"><label>124</label><institution>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></aff><aff id="a125"><label>125</label><institution>Department of Gynaecology and Obstetrics, Technical University of Munich</institution>, 81675 Munich,<country>Germany</country></aff><aff id="a126"><label>126</label><institution>NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute</institution>, Buffalo, New York 14263,<country>USA</country></aff><aff id="a127"><label>127</label><institution>Department of Genomics and Genome Sciences, Case Western Reserve University Medical School</institution>, Cleveland, Ohio 44106,<country>USA</country></aff><aff id="a128"><label>128</label><institution>Laboratory Medicine Program, University Health Network</institution>, Toronto, Ontario,<country>Canada</country> M5B 1W8</aff><aff id="a129"><label>129</label><institution>Department of Laboratory Medicine and Pathobiology, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country> M5B 1W8</aff><aff id="a130"><label>130</label><institution>Invitae Corporation</institution>, San Francisco, California 94107,<country>USA</country></aff><aff id="a131"><label>131</label><institution>Department of Medicine, Memorial Sloan-Kettering Cancer Center</institution>, New York, New York 10065,<country>USA</country></aff><aff id="a132"><label>132</label><institution>Department of Molecular Genetics, National Institute of Oncology</institution>, H-1122 Budapest,<country>Hungary</country></aff><aff id="a133"><label>133</label><institution>Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center</institution>, Chicago, Illinois 60637,<country>USA</country></aff><aff id="a134"><label>134</label><institution>Department of Preventive Medicine and Biomedical Science, Seoul National University College of Medicine and Cancer Research Institute, Seoul National University</institution>, 110-799 Seoul,<country>Republic of Korea</country></aff><aff id="a135"><label>135</label><institution>Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center</institution>, Utrecht 3508 GA,<country>The Netherlands</country></aff><aff id="a136"><label>136</label><institution>MRC-PHE Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London</institution>, London SW7 2AZ,<country>UK</country></aff><aff id="a137"><label>137</label><institution>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare</institution>, 20133 Milan,<country>Italy</country></aff><aff id="a138"><label>138</label><institution>Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University</institution>, Columbus, Ohio 43210,<country>USA</country></aff><aff id="a139"><label>139</label><institution>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital</institution>, FI-90220 Oulu,<country>Finland</country></aff><aff id="a140"><label>140</label><institution>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)</institution>, 20133 Milan,<country>Italy</country></aff><aff id="a141"><label>141</label><institution>Section of Cancer Genetics, Institute of Cancer Research</institution>, Sutton SM2 5NG,<country>UK</country></aff><aff id="a142"><label>142</label><institution>Department of Clinical Genetics, Karolinska University Hospital</institution>, SE-17176 Stockholm,<country>Sweden</country></aff><aff id="a143"><label>143</label><institution>Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna</institution>, A 1090 Vienna,<country>Austria</country></aff><aff id="a144"><label>144</label><institution>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine</institution>, Haifa 34362,<country>Israel</country></aff><aff id="a145"><label>145</label><institution>Department of Pathology, Johns Hopkins University School of Medicine</institution>, Baltimore, Maryland, 21205,<country>USA</country></aff><aff id="a146"><label>146</label><institution>International Agency for Research on Cancer</institution>, 69008 Lyon,<country>France</country></aff><aff id="a147"><label>147</label><institution>Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital</institution>, Amsterdam 1006 BE,<country>The Netherlands</country></aff><aff id="a148"><label>148</label><institution>Escuela Andaluza de Salud Pública. Instituto de Investigación Biosanitaria ibs.GRANADA, Hospitales Universitarios de Granada/Universidad de Granada</institution>, 18014 Granada,<country>Spain</country></aff><aff id="a149"><label>149</label><institution>CIBER de Epidemiología y Salud Pública (CIBERESP)</institution>,<country>Spain</country></aff><aff id="a150"><label>150</label><institution>Department of Environmental Health Sciences, Columbia University</institution>, New York, New York, 10032,<country>USA</country></aff><aff id="a151"><label>151</label><institution>Research Oncology, Division of Cancer Studies, King's College London, Guy's Hospital</institution>, London SE1 9RT,<country>UK</country></aff><aff id="a152"><label>152</label><institution>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne</institution>, Cologne 50931,<country>Germany</country></aff><aff id="a153"><label>153</label><institution>Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne</institution>, 50931 Cologne,<country>Germany</country></aff><aff id="a154"><label>154</label><institution>Center for Molecular Medicine Cologne (CMMC), University of Cologne</institution>, 50931 Cologne,<country>Germany</country></aff><aff id="a155"><label>155</label><institution>Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital</institution>, Newcastle, New South Wales 2305,<country>Australia</country></aff><aff id="a156"><label>156</label><institution>Department of Hematology and Oncology, University of Kansas Medical Center</institution>, Kansas City, Kansas 66205,<country>USA</country></aff><aff id="a157"><label>157</label><institution>Centre Hospitalier Universitaire de Québec Research Center, Laval University</institution>, Quebec City, Quebec,<country>Canada</country> G1V 4G2</aff><aff id="a158"><label>158</label><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon—Centre Léon Bérard</institution>, 69373 Lyon,<country>France</country></aff><aff id="a159"><label>159</label><institution>Department of Pathology, The University of Melbourne</institution>, Melbourne, Victoria,<country>Australia</country></aff><aff id="a160"><label>160</label><institution>Hannover Medical School</institution>, 30625 Hannover,<country>Germany</country></aff><aff id="a161"><label>161</label><institution>Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University</institution>, SE-58185 Linköping,<country>Sweden</country></aff><aff id="a162"><label>162</label><institution>Institut Curie, Department of Tumour Biology</institution>, 75248 Paris,<country>France</country></aff><aff id="a163"><label>163</label><institution>Université Paris Descartes, Sorbonne Paris Cité</institution>, 75248 Paris,<country>France</country></aff><aff id="a164"><label>164</label><institution>National Human Genome Research Institute, National Institutes of Health</institution>, Bethesda, Maryland 20892-2152,<country>USA</country></aff><aff id="a165"><label>165</label><institution>Department of Genetics, Portuguese Oncology Institute</institution>, Porto, 4200-072,<country>Portugal</country></aff><aff id="a166"><label>166</label><institution>Biomedical Sciences Institute (ICBAS), Porto University</institution>, 4200-072 Porto,<country>Portugal</country></aff><aff id="a167"><label>167</label><institution>Cancer Research Initiatives Foundation, Sime Darby Medical Centre</institution>, Subang Jaya 47500,<country>Malaysia</country></aff><aff id="a168"><label>168</label><institution>University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya</institution>, Kuala Lumpur 50603,<country>Malaysia</country></aff><aff id="a169"><label>169</label><institution>Department of Epidemiology, Mailman School of Public Health, Columbia University</institution>, New York, New York, 10032,<country>USA</country></aff><aff id="a170"><label>170</label><institution>Department of Clinical Genetics, Odense University Hospital</institution>, 5000 Odense C,<country>Denmark</country></aff><aff id="a171"><label>171</label><institution>Latvian Biomedical Research and Study Centre</institution>, LV-1067 Riga,<country>Latvia</country></aff><aff id="a172"><label>172</label><institution>Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University</institution>, Columbus, Ohio, 43210,<country>USA</country></aff><aff id="a173"><label>173</label><institution>Department of Surgical Oncology, Leiden University Medical Center</institution>, Leiden 2333 ZC,<country>The Netherlands</country></aff><aff id="a174"><label>174</label><institution>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford</institution>, Oxford OX3 7BN,<country>UK</country></aff><aff id="a175"><label>175</label><institution>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology</institution>, 08908 Barcelona,<country>Spain</country></aff><aff id="a176"><label>176</label><institution>Cancer Registry and Histopathology Unit, ‘Civic—M.P. Arezzo' Hospital</institution>, 97100 ASP Ragusa,<country>Italy</country></aff><aff id="a177"><label>177</label><institution>Department of Medical Oncology, Beth Israel Deaconess Medical Center</institution>, Boston, Massachusetts, 02215,<country>USA</country></aff><aff id="a178"><label>178</label><institution>Cancer Registry of Norway, Institute of Population-Based Cancer Research</institution>, N-0304 Oslo,<country>Norway</country></aff><aff id="a179"><label>179</label><institution>Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center</institution>, Rotterdam 3000 CA,<country>The Netherlands</country></aff><aff id="a180"><label>180</label><institution>Institute of Human Genetics, Charite Berlin</institution>, 13353 Berlin,<country>Germany</country></aff><aff id="a181"><label>181</label><institution>Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Gaithersburg, Maryland 20877,<country>USA</country></aff><aff id="a182"><label>182</label><institution>University Hospital Ulm</institution>, 89075 Ulm, ,<country>Germany</country></aff><aff id="a183"><label>183</label><institution>Department of Community Medicine, Faculty of Health Sciences, University of Tromsø—The Arctic University of Norway</institution>, 9037 Tromsø,<country>Norway</country></aff><aff id="a184"><label>184</label><institution>Genetic Epidemiology Group, Folkhälsan Research Center</institution>, 2016 Helsinki,<country>Finland</country></aff><aff id="a185"><label>185</label><institution>Department of Health Research and Policy—Epidemiology, Stanford University School of Medicine</institution>, Stanford, California 94305,<country>USA</country></aff><aff id="a186"><label>186</label><institution>Multidisciplinary Breast Center, Department of General Medical Oncology, University Hospitals</institution>, B-3000 Leuven,<country>Belgium</country></aff><aff id="a187"><label>187</label><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute</institution>, Bethesda, Maryland 20892,<country>USA</country></aff><aff id="a188"><label>188</label><institution>Servicio de Oncología Médica, Hospital Universitario La Paz</institution>, 28046 Madrid,<country>Spain</country></aff><aff id="a189"><label>189</label><institution>Department of Biostatistics, Harvard School Of Public Health</institution>, Boston, Massachusetts 02115,<country>USA</country></aff><aff id="a190"><label>190</label><institution>Cancer Division, QIMR Berghofer Medical Research Institute</institution>, Brisbane, Queensland 4029,<country>Australia</country></aff><aff id="a191"><label>191</label><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution>, Rockville, Maryland 20850,<country>USA</country></aff></contrib-group><author-notes><corresp id="c1"><label>a</label><email>couch.fergus@mayo.edu</email></corresp><fn id="n1"><label>*</label><p>These authors contributed equally to this work</p></fn><fn id="n2"><label>†</label><p>These authors jointly supervised this work.</p></fn></author-notes><pub-date pub-type="epub"><day>27</day><month>04</month><year>2016</year></pub-date><pub-date pub-type="collection"><year>2016</year></pub-date><volume>7</volume><elocation-id>11375</elocation-id><history><date date-type="received"><day>16</day><month>04</month><year>2015</year></date><date date-type="accepted"><day>21</day><month>03</month><year>2016</year></date></history><permissions><copyright-statement>Copyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/4.0/"><pmc-comment>author-paid</pmc-comment>
<license-p>This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link></license-p></license></permissions><abstract><p>Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (<italic>P</italic><5 × 10<sup>−8</sup>) with oestrogen receptor (ER)-negative breast cancer and <italic>BRCA1</italic>-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 <italic>BRCA1</italic> mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near <italic>KLF5</italic>, a 2p23.2 locus near <italic>WDR43</italic> and a 2q33 locus near <italic>PPIL3</italic> that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (<italic>P</italic><0.05) with ER-negative disease. Using functional and eQTL studies we implicate <italic>TRMT61B</italic> and <italic>WDR43</italic> at 2p23.2 and <italic>PPIL3</italic> at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and <italic>BRCA1</italic> breast cancer risk prediction.</p></abstract><abstract abstract-type="web-summary"><p><inline-graphic id="i1" xlink:href="ncomms11375-i1.jpg"></inline-graphic>Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.</p></abstract></article-meta></front><body><p>Breast cancer is a heterogeneous disease that can be separated into clinical subtypes based on tumour histological markers, such as the oestrogen receptor (ER). ER-negative disease accounts for 20–30% of all breast cancers, is more common in women diagnosed at young age and in women of African ancestry<xref ref-type="bibr" rid="b1">1</xref>, and is associated with worse short-term outcome than ER-positive disease. ER-negative and ER-positive breast cancer also exhibit different patterns of genetic susceptibility<xref ref-type="bibr" rid="b2">2</xref>. Currently, 94 loci containing common breast cancer risk-associated variants have been associated with breast cancer through genome-wide association studies (GWAS), and large replication studies<xref ref-type="bibr" rid="b3">3</xref><xref ref-type="bibr" rid="b4">4</xref><xref ref-type="bibr" rid="b5">5</xref><xref ref-type="bibr" rid="b6">6</xref><xref ref-type="bibr" rid="b7">7</xref><xref ref-type="bibr" rid="b8">8</xref><xref ref-type="bibr" rid="b9">9</xref><xref ref-type="bibr" rid="b10">10</xref><xref ref-type="bibr" rid="b11">11</xref><xref ref-type="bibr" rid="b12">12</xref><xref ref-type="bibr" rid="b13">13</xref><xref ref-type="bibr" rid="b14">14</xref><xref ref-type="bibr" rid="b15">15</xref><xref ref-type="bibr" rid="b16">16</xref><xref ref-type="bibr" rid="b17">17</xref><xref ref-type="bibr" rid="b18">18</xref>. However, only 14 loci have shown genome-wide significant associations (<italic>P</italic><5 × 10<sup>−8</sup>) with ER-negative disease<xref ref-type="bibr" rid="b3">3</xref><xref ref-type="bibr" rid="b17">17</xref><xref ref-type="bibr" rid="b18">18</xref><xref ref-type="bibr" rid="b19">19</xref><xref ref-type="bibr" rid="b20">20</xref>. While this partly reflects the smaller sample size for ER-negative disease, the majority of the known breast cancer loci show differences in relative risk by subtype. In particular, 6 of the 14 loci associated with ER-negative disease at genome-wide significance show no evidence of association with ER-positive disease<xref ref-type="bibr" rid="b20">20</xref>. The alleles associated with ER-negative breast cancer<xref ref-type="bibr" rid="b3">3</xref><xref ref-type="bibr" rid="b17">17</xref> at these loci have also been associated with breast cancer risk in <italic>BRCA1</italic> mutation carriers<xref ref-type="bibr" rid="b21">21</xref><xref ref-type="bibr" rid="b22">22</xref>, consistent with the finding that the majority of breast tumours arising in <italic>BRCA1</italic> mutation carriers show low/absent expression of ER<xref ref-type="bibr" rid="b23">23</xref><xref ref-type="bibr" rid="b24">24</xref><xref ref-type="bibr" rid="b25">25</xref>. These observations suggest that a meta-analysis of results from ER-negative breast cancer and <italic>BRCA1</italic> breast cancer association studies could identify additional ER-negative susceptibility loci that were not found previously because of limited sample size.</p><p>In this study, we carried out a meta-analysis of breast cancer GWAS studies and found four new loci associated with developing ER-negative breast cancer.</p><sec disp-level="1"><title>Results</title><sec disp-level="2"><title>Associations with ER-negative breast cancer</title><p>Genotype data for this meta-analysis were obtained from three sources: (1) 11 breast cancer GWAS included 5,139 ER-negative breast cancer cases and 14,352 controls (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 1</xref>); (2) The Breast Cancer Association Consortium (BCAC) included 7,333 ER-negative breast cancer cases and 42,468 study-matched controls genotyped on the iCOGS (Collaborative Oncological Gene-environment Study) custom array<xref ref-type="bibr" rid="b3">3</xref>; (3) The Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic> (CIMBA)<xref ref-type="bibr" rid="b26">26</xref> included 15,252 <italic>BRCA1</italic> mutation carriers (7,797 with breast cancer and 7,455 unaffected) genotyped on the iCOGS array (<xref ref-type="supplementary-material" rid="S1">Supplementary Tables 2–4</xref>). Imputation was performed using the 1000 Genomes project as a reference<xref ref-type="bibr" rid="b20">20</xref><xref ref-type="bibr" rid="b27">27</xref>, and a meta-analysis was performed based on 10,909,381 common single-nucleotide polymorphisms (SNPs) that passed quality control (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 1</xref>).</p><p>We first considered SNPs in 94 regions in which genome-wide significant associations for breast cancer had been identified (Methods)<xref ref-type="bibr" rid="b20">20</xref>. In 55 of these, the SNP most significantly associated with overall breast cancer risk was significantly associated (<italic>P</italic><0.05) with ER-negative breast cancer in the meta-analysis. Four more were associated with ER-negative breast cancer in the general population (<italic>P</italic><0.05) but not in the meta-analysis, and 15 displayed genome-wide significant (<italic>P</italic><5 × 10<sup>−8</sup>) associations with ER-negative breast cancer (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 5</xref>). In addition, new SNPs in three loci (rs10864459 from 1p36.2 <italic>PEX14</italic>, rs11903787 from <italic>INHBB</italic> and rs4980383 from 11p15.5 <italic>LSP1</italic>) were found to have genome-wide significant associations with ER-negative disease (<xref ref-type="table" rid="t1">Table 1</xref>, <xref ref-type="fig" rid="f1">Fig. 1</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Table 5</xref>). Likewise, SNPs in the <italic>TCF7L2</italic> locus previously associated with <italic>BRCA1</italic> breast cancer<xref ref-type="bibr" rid="b22">22</xref> and ER-positive breast cancer<xref ref-type="bibr" rid="b3">3</xref><xref ref-type="bibr" rid="b20">20</xref> showed genome-wide significant associations with ER-negative breast cancer (<xref ref-type="table" rid="t1">Table 1</xref>). Interestingly multiple independent signals in several loci were associated with ER-negative breast cancer. In particular, three independent regions in the <italic>TERT</italic> locus<xref ref-type="bibr" rid="b28">28</xref>, two regions in PTHLH, and two regions in ESR1 displayed genome-wide significant associations with ER-negative breast cancer (<xref ref-type="table" rid="t1">Table 1</xref>). Furthermore, while previous studies established genome-wide significant associations with ER-negative disease for rs11075995 in one 16q12.2 <italic>FTO</italic> locus<xref ref-type="bibr" rid="b17">17</xref>, rs17817449 (<italic>r</italic><sup>2</sup>=0.035) from a second <italic>FTO</italic> locus located 40 kb proximal to the rs11075995 tagged locus<xref ref-type="bibr" rid="b17">17</xref> also displayed near-genome-wide significance (<italic>P</italic>=5.26 × 10<sup>−8</sup>) with ER-negative breast cancer in the meta-analysis (<xref ref-type="table" rid="t1">Table 1</xref>). In addition to the breast cancer loci established in studies of European women, three additional breast cancer risk loci were recently identified in GWAS of Asian women. To generalize the results to other populations, associations between the three SNPs and breast cancer in the European, African American and Asian populations in the iCOGS study were evaluated. SNP rs2290203 showed only weak evidence of association (<italic>P</italic>=0.02), and rs4951011 and rs10474352 SNPs showed no evidence of association with ER-negative breast cancer in the white European meta-analysis (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 6</xref>).</p><p>Among the 94 known risk loci from white European and three from Asian populations, only 24 contained SNPs with some evidence of association (<italic>P</italic><0.05) with breast cancer risk among <italic>BRCA1</italic> mutation carriers alone. These included 21 loci based on known index SNPs (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 5</xref>) along with new SNPs from the meta-analysis in the <italic>PEX14</italic> (rs10864459), <italic>INHBB</italic> (rs11903787) and <italic>PTHLH</italic> (rs7297051) loci (<xref ref-type="table" rid="t1">Table 1</xref>). Only the <italic>ESR1</italic> (rs2046210), <italic>TERT</italic> (rs2242652) and two 19p13.1 (rs8170; rs56069439) loci had genome-wide significant associations with breast cancer risk for <italic>BRCA1</italic> mutation carriers alone (<xref ref-type="table" rid="t1">Table 1</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Table 5</xref>). However, 15 of the 19 risk loci that reached genome-wide significance for ER-negative disease in the meta-analysis showed some evidence of association (<italic>P</italic><0.05) with breast cancer risk for <italic>BRCA1</italic> mutation carriers using a retrospective likelihood analysis<xref ref-type="bibr" rid="b12">12</xref>. These SNPs had hazard ratio (HR) estimates in <italic>BRCA1</italic> carriers that were similar to the odds ratio (OR) estimates for ER-negative breast cancer (<xref ref-type="table" rid="t1">Table 1</xref>). In contrast, four SNPs in the <italic>LGR6</italic>, <italic>2p24.1</italic>, <italic>ZNF365</italic> and <italic>FTO</italic> loci had HR estimates ranging from 0.97 to 1.01 and were not significantly associated (<italic>P</italic>>0.05) with breast cancer risk for <italic>BRCA1</italic> mutation carriers. No significant interactions between the known risk SNPs were observed when pairwise interactions were evaluated separately in the general population (BCAC-iCOGS) or in <italic>BRCA1</italic> carriers after adjusting for multiple testing.</p></sec><sec disp-level="2"><title>Genome-wide associations with ER-negative breast cancer</title><p>Novel genome-wide significant associations (<italic>P</italic><5 × 10<sup>−8</sup>) were detected with imputed and genotyped SNPs on chromosomes 2p23.2 and 13q22 (<xref ref-type="table" rid="t2">Table 2</xref>, <xref ref-type="fig" rid="f2">Fig. 2</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 1</xref>). At 2p23.2, 79 SNPs exhibited genome-wide significant associations with ER-negative breast cancer (<xref ref-type="fig" rid="f2">Fig. 2</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 2</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Table 7</xref>). The most significant genotyped and imputed SNPs at these two loci were rs4577244 (<italic>P</italic>=1.0 × 10<sup>−8</sup>) and rs67073037 (<italic>P</italic>=4.76 × 10<sup>−9</sup>), respectively (<xref ref-type="table" rid="t2">Table 2</xref>). To investigate the presence of independent signals at the 2p23.2 locus, conditional analyses were conducted adjusting for the lead SNP. However, no significant (<italic>P</italic><0.05) associations were observed at 2p23.2 after adjusting for rs67073037. In the 13q22 locus, rs6562760 was the most strongly associated (<italic>P</italic>=5.0 × 10<sup>−10</sup>) SNP among 12 genome-wide significant SNPs (<xref ref-type="table" rid="t2">Table 2</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Table 8</xref>, <xref ref-type="fig" rid="f2">Fig. 2</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 1</xref>). Conditional analysis adjusting for rs6562760 yielded several SNPs with residual associations for ER-negative breast cancer, with rs17181761 (<italic>r</italic><sup>2</sup>=0.51) as the most significantly associated (<italic>P</italic>=6.0 × 10<sup>−6</sup>) (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 9</xref>). No associations at <italic>P</italic><10<sup>−4</sup> remained after conditioning on both rs6562760 and rs17181761. Thus, 13q22 appears to contain two independent ER-negative risk loci.</p><p>When considering only the data from the general population using the BCAC-iCOGS studies, no association between rs67073037 at 2p23.2 and ER-positive breast cancer was observed (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 10</xref>). Consistent with this observation, a significant difference (<italic>P</italic><sub>diff</sub>=4.45 × 10<sup>−6</sup>) in the per-allele ORs for ER-positive and ER-negative breast cancer was detected. In contrast, rs17181761 at 13q22 was weakly associated with ER-positive breast cancer (OR=1.03; <italic>P</italic>=0.030), but more strongly associated with ER-negative breast cancer (OR=1.08; <italic>P</italic><sub>diff</sub>=5.82 × 10<sup>−3</sup>; <xref ref-type="supplementary-material" rid="S1">Supplementary Table 10</xref>). Likewise, rs6562760 at 13q22 was more strongly associated with ER-negative than ER-positive breast cancer (ER-positive OR=0.98 versus ER-negative OR=0.92; <italic>P</italic><sub>diff</sub>=0.028) (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 10</xref>). Among ER-negative cases, no significant differences in the ORs for triple negative (ER-negative, progesterone receptor negative, HER2 negative) and non-triple-negative cases was observed (rs67073037, <italic>P</italic><sub>diff</sub>=0.26; rs6562760, <italic>P</italic><sub>diff</sub>=0.36; rs17181761, <italic>P</italic><sub>diff</sub>=0.69). Q-tests were used to assess heterogeneity. These results suggest that the three risk loci are largely specific to ER-negative but not triple-negative breast cancer, in contrast to loci in the <italic>MDM4</italic>, <italic>LGR6</italic>, 19p13.1 and <italic>TERT</italic> regions<xref ref-type="bibr" rid="b3">3</xref><xref ref-type="bibr" rid="b17">17</xref>. To also investigate the impact of bilateral disease on the associations with ER-negative breast cancer in the general population, analyses were performed separately for BBCS alone, which oversampled for bilateral cases, and after exclusion of BBCS. The risk estimates for each SNP (both in iCOGS and in the meta-analysis), after excluding BBCS, did not differ from the main results (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 11</xref>), and do not appear to be substantially influenced by bilateral cases.</p><p>Using the retrospective likelihood approach, index SNPs in the three 2p23.2 and 13q22 loci were all associated with <italic>BRCA1</italic> breast cancer (rs67073037, <italic>P</italic>=4.58 × 10<sup>−4</sup>; rs6562760, <italic>P</italic>=2.85 × 10<sup>−6</sup>; rs17181761, <italic>P</italic>=9.29 × 10<sup>−3</sup>; <xref ref-type="table" rid="t2">Table 2</xref>). There were no significant differences in the associations with ER-positive and ER-negative disease among <italic>BRCA1</italic> carriers (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 12</xref>). A competing risks analysis in <italic>BRCA1</italic> mutation carriers that accounted for simultaneous associations with breast and ovarian cancer risks found similar HR estimates for breast cancer and no evidence of association with ovarian cancer risk (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 13</xref>). None of the SNPs were associated with overall breast cancer risk for <italic>BRCA2</italic> mutation carriers (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 10</xref>). There was also no significant evidence of heterogeneity (<italic>P</italic><0.05) between the effect estimates for <italic>BRCA1</italic> mutation carriers and ER-negative breast cancer in the general population (BCAC-iCOGS; Intraclass Correlation)<xref ref-type="bibr" rid="b27">27</xref>. Finally, no significant interactions between the three index SNPs and any of the 94 previously known loci were observed in <italic>BRCA1</italic> carriers or in the general population after adjusting for multiple testing (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 14</xref>).</p></sec><sec disp-level="2"><title>Association with ER-negative breast cancer in the 2q33 locus</title><p>Analysis of genotyped and imputed SNPs around known risk loci also detected near-genome-wide significant associations with ER-negative breast cancer in a region on 2q33 containing several genes including <italic>PPIL3</italic> and the known <italic>CASP8</italic> risk locus (<xref ref-type="table" rid="t2">Table 2</xref>). rs115635831 (<italic>P</italic>=1.26 × 10<sup>−7</sup>) and rs188686860 (<italic>P</italic>=8.34 × 10<sup>−8</sup>; <italic>r</italic><sup>2</sup>=1.0), were the genotyped and imputed SNPs, respectively, most significantly associated with ER-negative breast cancer in this region. These SNPs, along with the most proximal rs74943274 SNP (<italic>r</italic><sup>2</sup>=0.97 with rs115635831), are located in <italic>CLK1</italic> (Cdc-like kinase-1) and <italic>PPIL3</italic> (Peptidylproplyl isomerase-Like 3) and are 350 kb upstream of <italic>CASP8</italic> (<xref ref-type="table" rid="t2">Table 2</xref>, <xref ref-type="fig" rid="f2">Fig. 2</xref>). All 157 SNPs with highly significant associations (<italic>P</italic><1 × 10<sup>−6</sup>) in this region, were in high linkage disequilibrium with rs188686860 and rs115635831 (<italic>r</italic><sup>2</sup>>0.90), and were located proximal (Hg19: 201,717,014-201,995,860) to the <italic>CASP8</italic> gene (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 15</xref>). Fine mapping of the <italic>CASP8</italic> locus has recently identified four independent signals associated with overall breast cancer risk<xref ref-type="bibr" rid="b29">29</xref>. The index SNPs for these independent signals range across a 350-kb region from 202,036,478 to 202,379,828. To determine whether these <italic>CASP8</italic>-associated signals accounted for the ER-negative associations in the meta-analysis, conditional analyses were conducted using the BCAC-iCOGS data. After accounting for the four <italic>CASP8</italic> signals, rs74943274 retained evidence of an association with overall breast cancer (<italic>P</italic>=1.44 × 10<sup>−3</sup>) and a strong association with ER-negative breast cancer (<italic>P</italic>=1.34 × 10<sup>−5</sup>; <xref ref-type="supplementary-material" rid="S1">Supplementary Table 16</xref>; <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 2</xref>), suggesting that rs74943274 and rs115635831 represents a novel locus associated with ER-negative breast cancer.</p><p>Further consideration of the BCAC-iCOGS data found no association for rs115635831 at 2q33 with ER-positive breast cancer (<italic>P</italic>=0.23) but identified a significant difference (<italic>P</italic><sub>diff</sub>=2.9 × 10<sup>−4</sup>) in the per-allele ORs for ER-positive and ER-negative breast cancer (Q-test, <xref ref-type="supplementary-material" rid="S1">Supplementary Table 10</xref>). No influence of bilateral disease was observed in sensitivity analyses (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 11</xref>). However, the index SNPs in the 2q33 locus were significantly associated with <italic>BRCA1</italic> breast cancer (rs115635831, <italic>P</italic>=0.018; rs188686860, <italic>P</italic>=0.012; <xref ref-type="table" rid="t2">Table 2</xref>). While there were no significant differences in the associations with ER-positive and ER-negative disease among <italic>BRCA1</italic> carriers (<italic>P</italic>Het=0.12), the associations were stronger for ER-negative (rs115635831 HR=1.32, <italic>P</italic>=3 × 10<sup>−3</sup>) than ER-positive breast cancer (rs115635831 overall HR=1.21, <italic>P</italic>=0.018) using the retrospective likelihood model (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 12</xref>). In addition, the associations for <italic>BRCA1</italic> mutation carriers were of similar magnitude as the OR estimates for ER-negative breast cancer in BCAC-iCOGS<xref ref-type="bibr" rid="b27">27</xref> (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 15</xref>). There was also no evidence of intraclass heterogeneity (<italic>P</italic><0.05) between the effect estimates for <italic>BRCA1</italic> mutation carriers and ER-negative breast cancer in the general population (BCAC-iCOGS)<xref ref-type="bibr" rid="b27">27</xref>. A competing risks analysis for <italic>BRCA1</italic> mutation carriers found little influence of ovarian cancer on risks of breast cancer (rs115635831 HR=1.23, <italic>P</italic>=0.016), and no evidence of association with ovarian cancer risk using the retrospective likelihood model (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 13</xref>). No association with overall breast cancer risk among <italic>BRCA2</italic> mutation carriers (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 10</xref>) was evident. Interestingly, rs114962751 at 2q33 and rs150750171 at 6p had the most significant interaction (<italic>P</italic>=3.9 × 10<sup>−4</sup>) among all known breast cancer risk SNPs in the iCOGS data, although the interaction was non-significant after adjusting for multiple testing (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 14</xref>). Altogether these results suggest the presence of a novel locus associated with ER-negative breast cancer that is located in the <italic>CLK1/PPIL3</italic> region proximal to <italic>CASP8</italic>.</p></sec><sec disp-level="2"><title>Expression quantitative trait locus (eQTL) analysis</title><p>To identify the genes in the novel loci influenced by the observed associations with ER-negative breast cancer, expression quantitative trait locus (eQTL) analyses were performed using gene expression data from breast tumour tissue and normal breast tissue and 1000 Genomes Project imputed SNPs in 1 Mb regions around the novel loci. In the 2p23.2 locus, the strongest cis eQTL associations for 735 TCGA breast tumours (BC765) involved <italic>TRMT61B</italic> expression (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 17</xref>). Most of the genome-wide significant ER-negative breast cancer risk SNPs in the locus displayed associations with <italic>TRMT61B</italic> expression, including the imputed SNPs (rs67073037, <italic>P</italic>=1.47 × 10<sup>−5</sup>; <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 3</xref>; rs6734079, <italic>P</italic>=1.85 × 10<sup>−5</sup>) and the genotyped SNP (rs4577254, <italic>P</italic>=5.61 × 10<sup>−5</sup>) most significantly associated with risk (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 18</xref>). Similarly, in a Norwegian normal breast cohort of 116 normal breast tissues (NB116), the strongest cis eQTLs associations involved <italic>TRMT61B</italic> expression and the risk SNPs in the locus yielded significant associations with <italic>TRMT61B</italic> expression (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 17</xref>). While the peak eQTL SNPs (rs6419696, <italic>P</italic>=1.21 × 10<sup>−17</sup>) were not among the SNPs showing the greatest association with risk (rs6419696, <italic>P</italic>=2.6 × 10<sup>−3</sup>), conditional analyses showed that the rs6419696 eQTL SNP accounted for much of the influence of the rs4577254 SNP on ER-negative breast cancer risk (<italic>P</italic>=9.07 × 10<sup>−4</sup>) and vice versa (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 18</xref>). Thus, modulation of <italic>TRMT61B</italic> expression may contribute in part to the risk of breast cancer in this region. In the 13q22.1 locus, the strongest eQTLs in the 735 TCGA breast tumours (BC765) involved <italic>PIBF1</italic> (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 19</xref>). However, none of the SNPs strongly associated with breast cancer risk in either of the two independent 13q22 loci showed associations with gene expression (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 19</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 4</xref>). In contrast, significant associations with <italic>DIS3</italic> expression were observed in the BC241 and NB116 cohorts for many of the genome-wide significant SNPs in the locus represented by rs17181761 (NB116 eQTL <italic>P</italic>=2.34 × 10<sup>−3</sup>) (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 19</xref>). While non-significant after accounting for multiple testing, these observations suggest that future studies should evaluate mechanistic interactions between 13q22.1 SNPs and <italic>DIS3</italic> expression. Evaluation of eQTLs in the 2q33 locus for the BC765 cohort found that many of the 157 risk-associated SNPs (<xref ref-type="table" rid="t2">Table 2</xref>, <xref ref-type="supplementary-material" rid="S1">Supplementary Table 15</xref>) had strong associations with <italic>PPIL3</italic> expression (rs188686860, <italic>P</italic>=1.77 × 10<sup>−7</sup>; rs115635831, <italic>P</italic>=6.08 × 10<sup>−7</sup>; <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 5</xref>) and little evidence of any associations with other genes in the region (<xref ref-type="supplementary-material" rid="S1">Supplementary Table 20</xref>). This is one of the few known breast cancer risk loci where the most significant risk SNPs are strongly associated with local gene expression. <italic>PPIL3</italic> is located at the proximal end of the locus, 270 kb upstream of <italic>CASP8</italic>, further suggesting that the 2q33 risk locus is independent of any influence on <italic>CASP8</italic>.</p></sec><sec disp-level="2"><title>Functional characterization of the 2p23.2 locus</title><p>To identify candidate SNPs and genes in the 2p23.2 locus driving ER-negative breast cancer risk, ENCODE chromatin biofeatures were evaluated in primary human mammary epithelial cells (HMECs), MCF7 ER-positive cells and MB-MDA-231 ER-negative cells<xref ref-type="bibr" rid="b30">30</xref>. Sixteen of the 79 most significantly associated SNPs (<italic>P</italic><3 × 10<sup>−7</sup>) in the region overlapped with three distinct regulatory regions (<xref ref-type="supplementary-material" rid="S1">Supplementary Figs 6 and 7</xref>). The most significantly associated ER-negative SNP, rs67073037 (<xref ref-type="table" rid="t2">Table 2</xref>) was located in intron 1 of <italic>WDR43</italic> near the transcription start site in a region containing acetylated H3K27 and trimethylated H3K4 chromatin marks in normal HMECs and MB-MDA-231 ER-negative breast tumour cells, and a DNase hypersensitivity cluster in ER-positive MCF7 cells (<xref ref-type="supplementary-material" rid="S1">Supplementary Figs 6 and 7</xref>). The three risk-associated SNPs (rs4407214, rs66604446 and rs66768547) with the most significant RegulomeDB scores (2b), were located in the same chromatin marks in this region in HMEC, MD-MBA-231 and MCF7 cells (<ext-link ext-link-type="uri" xlink:href="http://regulomedb.org">http://regulomedb.org</ext-link>). In addition, the top genotyped SNP (rs4577244) was located in a monomethylated H3K4 mark adjacent to the core promoter region of <italic>WDR43</italic> in HMECs (<xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 6</xref>). Separately rs11677283 and rs35617956 in introns 9 and 10 of <italic>WDR43</italic> were located in acetylated H3K27 and H3K9 chromatin marks in a putative regulatory region in HMECs, but not in ER-negative MD-MBA-231 cells.</p><p>Combining the eQTL results with these predictions, we tested four genomic tiles spanning region 1 for enhancer activity in both orientations using a luciferase reporter assay in the CAL51 ER-negative breast cancer line and MCF10A normal mammary epithelial cells (<xref ref-type="fig" rid="f3">Fig. 3</xref>). The tile containing rs4407214 displayed significant enhancer activity (<italic>P</italic><0.0001) in at least one orientation when compared with the negative control in MCF10A and CAL51 (<xref ref-type="fig" rid="f3">Fig. 3</xref>). In addition, the tile carrying the disease-associated G allele showed significantly (<italic>P</italic>=0.0059) higher activity than the T allele in MCF10A cells (<xref ref-type="fig" rid="f3">Fig. 3</xref>). Similarly, the disease-associated G-allele showed significantly (<italic>P</italic>=0.0059) higher activity than the T-allele in a luciferase-based promoter assay in MCF10A cells (<italic>P</italic>=0.044) and CAL51 (<italic>P</italic>=0.0078; <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 8</xref>). Consistent with these allele-specific changes in transcriptional activity different protein complexes in electrophoretic mobility shift assays were observed using CAL51 and MCF10A nuclear extracts (<xref ref-type="fig" rid="f3">Fig. 3</xref>). In addition, Pol2 ChIA-PET in MCF7 breast cancer cells revealed an interaction between Region 1 and the promoter of <italic>TRMT61B</italic> (<xref ref-type="fig" rid="f3">Fig. 3</xref>), which had the strongest eQTL signal in the locus. These results are consistent with modification of Pol2 binding to this region by rs4407214 in lymphoblastoid cells<xref ref-type="bibr" rid="b31">31</xref> and suggest the presence of a transcriptional enhancer in the region. Separately, the ChIA-PET data further suggest that Region 2 in <italic>WDR43</italic> may interact with the promoter of <italic>WDR43</italic> (<xref ref-type="fig" rid="f3">Fig. 3</xref>). Thus, <italic>WDR43</italic> and <italic>TRMT61B</italic> may be regulated by interactions of enhancers in <italic>WDR43</italic> with the core <italic>WDR43</italic> and <italic>TRMT61B</italic> promoters and may jointly influence breast cancer risk in this region.</p></sec><sec disp-level="2"><title>Functional characterization of the 13q22 locus</title><p>The SNPs most significantly associated with ER-negative breast cancer in the two 13q22 loci formed two small clusters in a 4-kb region around rs17181761 and a 10-kb region around rs8002929. Bioinformatics analysis and chromatin feature analysis identified weak DNaseI hypersensitivity sites, CTCF binding and monomethylated H3K4 sites in both regions in HMEC cells, consistent with weak enhancer activity (<xref ref-type="supplementary-material" rid="S1">Supplementary Figs 9 and 10</xref>). Both rs17181761 and rs12870942 in the proximal locus are associated with transcriptional activity in HMECs, whereas rs8002929 and rs927683 in the distal locus are associated with enhancer and DNAse hypersensitivity sites in HMECs, respectively (<ext-link ext-link-type="uri" xlink:href="http://regulomedb.org">http://regulomedb.org</ext-link>). Both 13q22 loci are located in a non-genic 600-kb region between the <italic>KLF5</italic> and <italic>KLF12</italic> kruppel-like transcription factor genes. This segment of chromosome 13 is frequently deleted in a spectrum of cancers<xref ref-type="bibr" rid="b32">32</xref><xref ref-type="bibr" rid="b33">33</xref>. GWAS have also identified a pancreatic cancer risk locus in the region between <italic>KLF5</italic> and <italic>KLF12</italic> (refs <xref ref-type="bibr" rid="b34">34</xref>, <xref ref-type="bibr" rid="b35">35</xref>, <xref ref-type="bibr" rid="b36">36</xref>). However, the rs9543325 SNP from the pancreatic cancer studies was only marginally associated with ER-negative breast cancer risk (<italic>P</italic>=0.03) in the meta-analysis suggesting that the signals are independent.</p></sec><sec disp-level="2"><title>Functional characterization of the 2q33 locus</title><p>The SNPs most significantly associated with ER-negative breast cancer in the 2q33 locus range across a 350-kb region that contains nine genes (<xref ref-type="supplementary-material" rid="S1">Supplementary Fig. 6</xref>). This region contains at least 10 strong enhancer regions in HMECs and 12 strong enhancer regions in MD-MBA-231 cells associated with acetylated H3K27 and trimethylated H3K4 chromatin marks. As noted above, many of the 157 SNPs most significantly associated with ER-negative breast cancer are associated with <italic>PPIL3</italic> expression. Seven of these also scored as functional candidates by RegulomeDB (score=3a; rs17467658, rs17383256, rs17467916, rs114567273, rs76377168, rs116509920 and rs116724456). Of these rs17467658 in <italic>CLK1</italic> and rs17383256 in the <italic>ORC2</italic> gene are located in DNAse hypersensitivity sites and strong enhancer regions in HMEC and MD-MBA-231 cells (<ext-link ext-link-type="uri" xlink:href="http://www.roadmapepigenomics.org">http://www.roadmapepigenomics.org</ext-link>; <xref ref-type="supplementary-material" rid="S1">Supplementary Figs 11 and 12</xref>). In addition, rs116509920 and rs116724456 are associated with <italic>PPIL3</italic> expression (<italic>P</italic>=5.85 × 10<sup>−7</sup>), although neither SNP is associated with an enhancer or suppressor region. The genotyped SNP most significantly associated with risk, rs114962751, is located in acetylated H3K27 and trimethylated H3K4 chromatin marks in a bidirectional promoter for <italic>FAM126B</italic> and <italic>NDUFB3</italic> in HMEC and MD-MBA-231 cells (<xref ref-type="supplementary-material" rid="S1">Supplementary Figs 11 and 12</xref>). Similarly, the rs74943274 genotyped risk SNP (<xref ref-type="table" rid="t2">Table 2</xref>) is located near the 3′-untranslated region of <italic>CLK1</italic> and is associated with <italic>PPIL3</italic> expression (<italic>P</italic>=2.37 × 10<sup>−6</sup>). However, rs78258606 is perhaps a more likely candidate driver of ER-negative risk in this locus because the SNP is associated with ER-negative breast cancer (<italic>P</italic>=1.9 × 10<sup>−7</sup>), is located in the <italic>CLK1</italic> promoter in acetylated H3K27 and trimethylated H3K4 chromatin marks in HMEC and MD-MBA-231 cells and DNase hypersensitivity sites in MCF7 cells, and is associated with <italic>PPIL3</italic> expression (<italic>P</italic>=2.71 × 10<sup>−7</sup>) (<xref ref-type="supplementary-material" rid="S1">Supplementary Figs 11 and 12</xref>). Further fine mapping and functional characterization of this locus is needed to resolve the underlying functional effects and identify the genes influencing ER-negative breast cancer risk.</p></sec></sec><sec disp-level="1"><title>Discussion</title><p>When including the four 2p23.2, 13q22 and 2q33 novel loci identified in this meta-analysis, 23 independent loci have shown genome-wide significant associations with ER-negative disease, including 10 loci showing no associations or only weak associations with ER-positive disease. In total, 63 loci have shown at least marginal significance (<italic>P</italic><0.05) with ER-negative breast cancer. In <italic>BRCA1</italic> mutation carriers, 27 independent loci (<italic>P</italic><0.05) have been associated with modified breast cancer risk<xref ref-type="bibr" rid="b27">27</xref>. The percentage of the familial risk for ER-negative disease explained by SNPs is not well defined because there is currently no good estimate for the familial relative risk for ER-negative disease. However, assuming that the estimate is similar to that for overall breast cancer (twofold for a first-degree relative), and based on the estimated frequencies and ORs from the iCOGS data, the SNPs in the known breast cancer risk loci explain 9.8% of the familial risk and the SNPs in the four new loci account for a further 0.8%. The addition of these new ER-negative loci may improve overall risk prediction models for ER-negative disease in the general population and for breast cancer among <italic>BRCA1</italic> mutation carriers by enhancing the contribution of current polygenic risk prediction models<xref ref-type="bibr" rid="b21">21</xref><xref ref-type="bibr" rid="b22">22</xref>. Furthermore, fine mapping and functional studies of these loci may provide further insight into the aetiology of ER-negative breast cancer.</p></sec><sec disp-level="1"><title>Methods</title><sec disp-level="2"><title>Study populations</title><p>Details of the subjects, genotyping and quality control measures for the BCAC GWAS and iCOGS data<xref ref-type="bibr" rid="b3">3</xref>, BPC3 (ref. <xref ref-type="bibr" rid="b16">16</xref>), EBCG<xref ref-type="bibr" rid="b37">37</xref>, TNBCC<xref ref-type="bibr" rid="b14">14</xref><xref ref-type="bibr" rid="b38">38</xref> and <italic>BRCA1</italic> (ref. <xref ref-type="bibr" rid="b22">22</xref>) are described elsewhere. Analyses were restricted to women of European ancestry. Overall, 42 BCAC studies provided the iCOGS genotyping data for ER-negative breast cancer cases and controls. In addition, 11 breast cancer studies provided GWAS genotyping data. Forty five CIMBA studies provided iCOGS genotyping on 15,252 <italic>BRCA1</italic> mutation carriers, of whom 7,797 were affected with breast cancer.</p></sec><sec disp-level="2"><title>Genotype data</title><p>Genotyping and imputation details for each study are shown in <xref ref-type="supplementary-material" rid="S1">Supplementary Table 1</xref>.</p></sec><sec disp-level="2"><title>Imputation</title><p>We performed imputation separately for <italic>BRCA1</italic> carriers, 11 GWAS, BCAC-iCOGS and TNBCC-iCOGS samples. We imputed variants from the 1000 Genomes Project data using the v3 April 2012 release<xref ref-type="bibr" rid="b39">39</xref> as the reference panel. Imputation was based on the 1000 Genomes Project data with singletons removed. Eight BCAC GWAS were imputed in a two-step procedure, with prephasing using the SHAPEIT software and imputation of the phased data in the second with IMPUTEv2 (ref. <xref ref-type="bibr" rid="b40">40</xref>). For the remaining three GWAS (BPC3, TNBCC and EBCG), imputation was performed using MACH (version 1.0.18) and Minimac (version 2012.8.15)<xref ref-type="bibr" rid="b41">41</xref>. The iCOGS data were also imputed with two-stage procedure involving SHAPEIT and IMPUTEv2. To perform the imputation we divided the data into segments of ∼5 Mb each. The iCOGS samples were divided into 10 subsets, keeping all subjects from individual studies in the same set. Estimates and s.e.'s were obtained using logistic regression adjusting for study and 9 principal components. GWAS SNPs were excluded if the imputation accuracy was <italic>r</italic><sup>2</sup><0.3 or if the minor allele frequency (MAF) was <0.01, TNBCC SNPs were excluded when the imputation accuracy was <italic>r</italic><sup>2</sup><0.9 and MAF<0.05, iCOGS SNPs were excluded when <italic>r</italic><sup>2</sup><=0.3 and MAF<0.005. Regions with evidence of genome-wide significant associations (<italic>P</italic><5 × 10<sup>−8</sup>) were reimputed in iCOGS, using IMPUTEv2 but without prephasing in SHAPEIT to improve imputation accuracy. In addition, the number of MCMC iterations were increased from 30 to 90, and the buffer region was increased to ±500 kb from any significantly associated SNP in the region.</p></sec><sec disp-level="2"><title>Meta-analysis</title><p>A fixed effects meta-analysis of ER-negative breast cancer associations was conducted using an inverse variance approach assuming fixed effects, as implemented in METAL<xref ref-type="bibr" rid="b42">42</xref>. The effect estimates used were the logarithm of the per-allele HR estimate for the association with breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and the logarithm of the per-allele OR estimate for the association with breast cancer status in GWAS and iCOGS analyses, both of which were assumed to approximate the same relative risk. For the associations in <italic>BRCA1</italic> mutation carriers, a kinship-adjusted variance estimator was used<xref ref-type="bibr" rid="b12">12</xref>. <italic>P</italic>-values were estimated by <italic>z</italic>-test.</p></sec><sec disp-level="2"><title>Heterogeneity analysis</title><p>Heterogeneity across estimates from BCAC and iCOGS were evaluated using a Cochran Q test and <italic>I</italic><sup>2</sup> for the proportion of total variability explained by heterogeneity in the effect sizes<xref ref-type="bibr" rid="b43">43</xref>. Associations with ER-positive and ER-negative subgroups of <italic>BRCA1</italic> carriers were evaluated using an extension of the retrospective likelihood approach to model the simultaneous effect of each SNP on more than one tumour subtype<xref ref-type="bibr" rid="b27">27</xref>. The consistency between breast cancer associations for breast cancer susceptibility variants in the general population and associations in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers were evaluated using the intraclass correlation (ICC)<xref ref-type="bibr" rid="b27">27</xref>. The ICC was estimated based on a one-way random-effects model and tested for agreement in absolute values of log HR.</p></sec><sec disp-level="2"><title>Locus coverage</title><p>Locus boundaries were defined so that all SNPs with <italic>r</italic><sup>2</sup>⩾0.1 with the most significantly associated SNP were included. SNPs with MAF<0.005 were excluded. Linkage disequilibrium blocks were defined at <italic>r</italic><sup>2</sup>⩾0.8. Each linkage disequilibrium block was evaluated for the presence of at least one genotyped or imputed SNP. If imputed, then the imputation accuracy was considered.</p></sec><sec disp-level="2"><title>Expression quantitative trait locus analysis</title><p>eQTL analysis was performed for all protein coding genes within 1 Mb, up- and downstream of the SNP most significantly associated with ER-negative breast cancer risk in each locus. Normal breast (NB116; <italic>n</italic>=116) and breast cancer (BC241, <italic>n</italic>=241) are comprised of women of Norwegian descent. Gene expression data for the majority of women in NB116 were derived from normal breast tissue in women who had not been affected with breast cancer; data for ten women were derived from normal tissue adjacent to a tumour. Gene expression data for BC241 were derived from breast tumours (70 ER-negative and 170 ER-positive). Genotyping was performed with the iCOGS SNP array, and gene expression levels were measured with the Agilent 44K array<xref ref-type="bibr" rid="b44">44</xref><xref ref-type="bibr" rid="b45">45</xref>. BC765 (<italic>n</italic>=765) is the TCGA breast cancer cohort composed of 139 ER-negative, 571 ER-positive and 55 undefined breast tumours; all non-European samples (as determined by clustering and PCA) were excluded from this analysis<xref ref-type="bibr" rid="b46">46</xref>. Germline genotype data from Affymetrix SNP 6 array were obtained from TCGA dbGAP data portal<xref ref-type="bibr" rid="b46">46</xref>. Gene expression levels for the breast tumours were assayed by RNA sequencing, RSEM (RNaseq by Expectation-Maximization21) normalized per gene, as obtained from the TCGA consortium portal<xref ref-type="bibr" rid="b46">46</xref>. The data were log2 transformed, and unexpressed genes were excluded prior to eQTL analysis. There is no overlap between women recruited to each of these studies. The genotyping data were processed as follows: SNPs with call rates <0.95 or minor allele frequencies <0.05 or Hardy–Weinberg equilibrium (<italic>P</italic><10<sup>−13</sup>) were excluded. Samples with call rates below 80% were excluded. Identity by state was computed with the R GenABEL package<xref ref-type="bibr" rid="b47">47</xref> and closely related samples with IBS>0.95 were removed. Imputation was performed on the iCOGS and Affymetrix6 germline genotype data using the 1000 Genomes Project March 2012 v.3 release as the reference data set. A two-stage imputation procedure was used as described above. The influence of SNPs on gene expression was assessed using a linear regression model. An additive effect was assumed by modelling copy number of the rare allele, that is, 0, 1 or 2, for a given genotype.</p></sec><sec disp-level="2"><title>Candidate gene analysis</title><p>TCGA has performed extensive genomic analysis of tumours from a large number of tissue types including over 1,000 breast tumours. All genes in the novel loci were evaluated for coding somatic sequence variants in TCGA. Breast tumours with log2 copy-number data in the TCGA data were analysed for deletion and amplification of each candidate gene using the cBio portal<xref ref-type="bibr" rid="b48">48</xref><xref ref-type="bibr" rid="b49">49</xref>.</p></sec><sec disp-level="2"><title>Informatics and chromatin biofeatures</title><p>Candidate SNPs were evaluated using SNPInfo (<ext-link ext-link-type="uri" xlink:href="http://snpinfo.niehs.nih.gov">http://snpinfo.niehs.nih.gov</ext-link>) and SNPnexus (<ext-link ext-link-type="uri" xlink:href="http://snp-nexus.org/test/snpnexus">http://snp-nexus.org/test/snpnexus</ext-link>). The presence of SNPs in transcription factor binding sites using TRANSFAC and miRNA binding sites using TargetScan were noted. Regulatory potential scores (ESPERR Regulatory Potential) were obtained from the UCSC genome bioinformatics browser (<ext-link ext-link-type="uri" xlink:href="http://genome.ucsc.edu/">http://genome.ucsc.edu/</ext-link>). RegulomeDB (<ext-link ext-link-type="uri" xlink:href="http://regulomedb.org">http://regulomedb.org</ext-link>) was used to assess SNPs for transcription factor recognition motifs, open chromatin structure based on FAIRE and DNAse-seq analysis and protein binding sites based on ChIP-seq data. Chromatin biofeatures in HMEC and MCF7 cells were assessed using ENCODE layers on the UCSC browser (<ext-link ext-link-type="uri" xlink:href="http://genome.ucsc.edu/">http://genome.ucsc.edu/</ext-link>). Enhancers active in the mammary cell types MCF7 and HMEC were cross-referenced with candidate SNPs.</p></sec><sec disp-level="2"><title>Luciferase reporter assays</title><p>Genomic tiles spanning regions containing SNPs with indication of regulatory activity by RegulomeDB were generated. Regions containing the major and minor alleles within the 2p23.2 region spanning 2,229 bp (chr2:29,117,333-29,119,561) were generated by PCR using BAC DNA CTD-3216P10 as template. Forward and reverse primers contained <italic>att</italic>B1 and <italic>att</italic>B2 sequences, respectively, to aid in recombinational cloning. Tiles were cloned in both a forward and reverse orientation upstream of the SV40 promoter by recombination in the firefly luciferase reporter vector pGL3-Pro-attb vector designed to test for enhancer regions. This vector is a modification of pGL3-Promoter (Invitrogen) adding <italic>att</italic>B sites surrounding the <italic>ccdb</italic> gene. The clone containing the tile was co-transfected in eight replicates using LipoFectamine 2000 (Life Technologies) into MCF10A or CAL51 cells with pRL-CMV (Promega), an internal control expressing Renilla luciferase, per well of 96-well plates. Luciferase activity was measured 24-h post transfection by Dual Glo Luciferase Assay (Promega). Transfections were repeated in two independent experiments with similar results. The influence of the common and rare alleles of rs4407214 on promoter activity in the pGL3-Promoter vector (Invitrogen) were assessed using the same methodology. Primers are available on request.</p></sec><sec disp-level="2"><title>Electromobility shift assays</title><p>Nuclear proteins from MCF10A and CAL51 cells were extracted using a hypotonic lysis buffer (10 mM HEPES, pH 7.9, 1.5 mM MgCl2, 10 mM KCL) supplemented with DTT and protease inhibitors, followed by an extraction buffer (20 mM HEPES, ph 7.9, 1.5 mM MgCl<sub>2</sub>, 0.42 M NaCl, 0.2 mM EDTA, 25% v/v glycerol) supplemented with DTT and protease inhibitors. Electrophoretic mobility shift assays probes were designed to cover each SNP ±20 base pairs, for both major and minor alleles. Probe pairs were dissolved in water and annealed at a concentration of 10 μM each. Probes were labelled with ATP (γ-32 P; Perkin Elmer) using T4 polynucleotide kinase and cleaned using the QiaQuick Nucleotide Removal Kit (Qiagen). Labelled and unlabelled probes were then incubated with protein extracts using LightShift Poly(dI–dC) (Thermo) and a binding buffer (10 mM Tris, 50 mM KCl, 1 mM DTT, pH 7.4) and electrophoresed on a 6% acrylamide gel overnight at 83 V. Gels were dried and films were exposed for 4–24 h. Probe sequences are shown in <xref ref-type="supplementary-material" rid="S1">Supplementary Table 21</xref>.</p></sec></sec><sec disp-level="1"><title>Additional information</title><p><bold>How to cite this article</bold>: Couch, F. J. <italic>et al</italic>. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. <italic>Nat. Commun.</italic> 7:11375 doi: 10.1038/ncomms11375 (2016).</p></sec><sec sec-type="supplementary-material" id="S1"><title>Supplementary Material</title><supplementary-material id="d33e18" content-type="local-data"><caption><title>Supplementary Information</title><p>Supplementary Figures 1-12, Supplementary Tables 1-2 and Supplementary Note.</p></caption><media xlink:href="ncomms11375-s1.pdf"></media></supplementary-material></sec></body><back><ack><p>We thank all the researchers and administrative staff who have enabled this work to be carried out and all of the individuals who took part in these studies.</p><p>B.C.A.C. was funded through a European Community Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175; COGS); Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692); the National Institutes of Health Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), R01 grants (CA128978, CA176785, CA192393), and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative); the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Breast Cancer Res. Foundation, and the Ovarian Cancer Research Fund. CIMBA genotyping was supported by National Institutes of Health grant (CA128978); the Department of Defence (W81XWH-10-1-0341); and the Breast Cancer Res. Foundation. CIMBA data management and data analysis were supported by Cancer Research UK grants C12292/A11174 and C1287/A10118. This study made use of data generated by the Wellcome Trust Case Control consortium. Functional studies were supported by the Florida Breast Cancer Foundation. A full description of funding and acknowledgments is provided in Supplementary Note 1.</p></ack><ref-list><ref id="b1"><mixed-citation publication-type="journal"><name><surname>Kamangar</surname><given-names>F.</given-names></name>, <name><surname>Dores</surname><given-names>G. M.</given-names></name> & <name><surname>Anderson</surname><given-names>W. 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Kuchenbacker, D.F.E. and A.C.A. conducted the statistical analyses. A.A.N.M. coordinated the functional studies. All authors provided materials or data and reviewed and commented on the content of the manuscript.</p></fn></fn-group></back><floats-group><fig id="f1"><label>Figure 1</label><caption><title>Manhattan plot of ER-negative breast cancer meta-analysis.</title><p>The Manhattan plot displays the strength of genetic association (−log<sub>10</sub><italic>P</italic>) versus chromosomal position (Mb), where each dot presents a genotyped or imputed (black circle) SNP. The black horizontal line represents the threshold for genome-wide significance (<italic>P</italic>=5 × 10<sup>−8</sup>).</p></caption><graphic xlink:href="ncomms11375-f1"></graphic></fig><fig id="f2"><label>Figure 2</label><caption><title>Novel ER-negative breast cancer loci.</title><p>The chromosomal position and strength of genetic association (−log<sub>10</sub><italic>P</italic>) is shown for all SNPs (<italic>P</italic><1 × 10<sup>−6</sup>) in BCAC/iCOGS data in the four novel risk loci. (<bold>a</bold>). 2p23 locus. The most significant SNP (rs67073037) is shown as a diamond. (<bold>b</bold>). 13q22 loci. The most significant SNP (rs6562760) is shown as a diamond. The second locus is shown in black. (<bold>c</bold>). 2q33 locus. The most significant SNPs (rs188686860; rs115635831) are shown as diamonds.</p></caption><graphic xlink:href="ncomms11375-f2"></graphic></fig><fig id="f3"><label>Figure 3</label><caption><title>The chromatin landscape of locus 2p23.2.</title><p>(<bold>a</bold>) The SNP rs4407214 is included in a genomic tile overlapping chromatin features indicative of promoters and enhancers, shaded red. (<bold>b</bold>,<bold>c</bold>). Luciferase assays showing activity in the tile containing SNP rs4407214 (highlighted in pink in <bold>a</bold>.) in MCF10A and CAL51, red box plots indicate significantly different from the control tile (<italic>P</italic><0.0001). Brown box plot indicates significant difference from the reference allele (<italic>P</italic>= 0.0059). (<bold>d</bold>) Electrophoretic mobility shift assay (EMSA) showing the formation of allele-specific complexes for rs4407214. M, major allele; m, minor allele. Lines 1, 2, 7, 8—no nuclear extract. Lines 3, 4, 5, 6—10 μg of MCF10A nuclear extract. Lines 9, 10, 11, 12—10 μg of CAL51 nuclear extract. Shift detected by comparison to bands (arrows #1 and #2).</p></caption><graphic xlink:href="ncomms11375-f3"></graphic></fig><table-wrap position="float" id="t1"><label>Table 1</label><caption><title>Common genetic variants from known breast cancer susceptibility loci displaying most significant genome-wide associations with ER-negative breast cancer risk.</title></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="char" char="."></col><col align="center"></col><col align="center"></col><col align="center"></col><col align="char" char="."></col><col align="char" char="("></col><col align="left"></col><col align="char" char="."></col><col align="char" char="("></col><col align="center"></col><col align="left"></col></colgroup><thead valign="bottom"><tr><th align="left" valign="top" charoff="50"><bold>Location</bold></th><th align="center" valign="top" char="." charoff="50"><bold>Position</bold></th><th align="center" valign="top" charoff="50"><bold>Nearest gene</bold></th><th align="center" valign="top" charoff="50"><bold>SNP</bold></th><th align="center" valign="top" charoff="50"><bold>Alleles</bold></th><th colspan="3" align="center" valign="top" char="." charoff="50"><bold>iCOGS/GWAS ER-negative</bold><hr></hr></th><th colspan="3" align="center" valign="top" char="." charoff="50"><bold>BRCA1 carriers</bold><hr></hr></th><th align="center" valign="top" charoff="50"><bold>Meta-analysis</bold></th></tr><tr><th align="left" valign="top" charoff="50"> </th><th align="char" valign="top" char="." charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="center" valign="top" char="." charoff="50"><bold>EAF</bold></th><th align="center" valign="top" char="(" charoff="50"><bold>OR (95% CI)</bold></th><th align="center" valign="top" charoff="50"><italic><bold>P</bold></italic></th><th align="center" valign="top" char="." charoff="50"><bold>EAF</bold></th><th align="center" valign="top" char="(" charoff="50"><bold>HR (95% CI)</bold></th><th align="center" valign="top" charoff="50"><italic><bold>P</bold></italic></th><th align="center" valign="top" charoff="50"><italic><bold>P</bold></italic><xref ref-type="fn" rid="t1-fn2">*</xref></th></tr></thead><tbody valign="top"><tr><td colspan="12" align="center" valign="top" charoff="50">Variants in known loci most significantly associated with overall breast cancer</td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>1p36.2</td><td align="char" valign="top" char="." charoff="50">10563609</td><td align="center" valign="top" charoff="50"><italic>PEX14</italic></td><td align="center" valign="top" charoff="50">rs10864459</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.32</td><td align="char" valign="top" char="(" charoff="50">0.90 (0.87–0.93)</td><td align="left" valign="top" charoff="50">2.13 × 10<sup>−9</sup></td><td align="char" valign="top" char="." charoff="50">0.31</td><td align="char" valign="top" char="(" charoff="50">0.95 (0.91–0.99)</td><td align="center" valign="top" charoff="50">0.01</td><td align="left" valign="top" charoff="50">4.60 × 10<sup>−10</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>1q32.1</td><td align="char" valign="top" char="." charoff="50">202179042</td><td align="center" valign="top" charoff="50"><italic>LGR6</italic></td><td align="center" valign="top" charoff="50">rs17489300</td><td align="center" valign="top" charoff="50">A/C</td><td align="char" valign="top" char="." charoff="50">0.4</td><td align="char" valign="top" char="(" charoff="50">0.90 (0.87–0.93)</td><td align="left" valign="top" charoff="50">9.37 × 10<sup>−10</sup></td><td align="char" valign="top" char="." charoff="50">0.39</td><td align="char" valign="top" char="(" charoff="50">0.97 (0.93–1.01)</td><td align="center" valign="top" charoff="50">0.19</td><td align="left" valign="top" charoff="50">1.98 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">1q32.1</td><td align="char" valign="top" char="." charoff="50">204518842</td><td align="center" valign="top" charoff="50"><italic>MDM4</italic></td><td align="center" valign="top" charoff="50">rs4245739</td><td align="center" valign="top" charoff="50">A/C</td><td align="char" valign="top" char="." charoff="50">0.26</td><td align="char" valign="top" char="(" charoff="50">1.13 (1.11–1.19)</td><td align="left" valign="top" charoff="50">5.53 × 10<sup>−15</sup></td><td align="char" valign="top" char="." charoff="50">0.28</td><td align="char" valign="top" char="(" charoff="50">1.09 (1.05–1.14)</td><td align="center" valign="top" charoff="50">6.83 × 10<sup>−5</sup></td><td align="left" valign="top" charoff="50">7.71 × 10<sup>−18</sup></td></tr><tr><td align="left" valign="top" charoff="50">2p24.1</td><td align="char" valign="top" char="." charoff="50">19184284</td><td align="center" valign="top" charoff="50"><italic>2p24.1</italic></td><td align="center" valign="top" charoff="50">rs12710696</td><td align="center" valign="top" charoff="50">C/T</td><td align="char" valign="top" char="." charoff="50">0.36</td><td align="char" valign="top" char="(" charoff="50">1.10 (1.06–1.13)</td><td align="left" valign="top" charoff="50">1.70 × 10<sup>−8</sup></td><td align="char" valign="top" char="." charoff="50">0.39</td><td align="char" valign="top" char="(" charoff="50">1.01 (0.97–1.05)</td><td align="center" valign="top" charoff="50">0.56</td><td align="left" valign="top" charoff="50">1.90 × 10<sup>−6</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>2q14.2</td><td align="char" valign="top" char="." charoff="50">121088182</td><td align="center" valign="top" charoff="50"><italic>INHBB</italic></td><td align="center" valign="top" charoff="50">rs11903787</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.25</td><td align="char" valign="top" char="(" charoff="50">0.90 (0.86–0.94)</td><td align="left" valign="top" charoff="50">8.57 × 10<sup>−7</sup></td><td align="char" valign="top" char="." charoff="50">0.26</td><td align="char" valign="top" char="(" charoff="50">0.91 (0.87–0.96)</td><td align="center" valign="top" charoff="50">2.0 × 10<sup>−4</sup></td><td align="left" valign="top" charoff="50">7.24 × 10<sup>−10</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>5p15.3</td><td align="char" valign="top" char="." charoff="50">1280028</td><td align="center" valign="top" charoff="50"><italic>TERT</italic></td><td align="center" valign="top" charoff="50">rs2242652</td><td align="center" valign="top" charoff="50">A/G</td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">1.18 (1.13–1.23)</td><td align="left" valign="top" charoff="50">2.73 × 10<sup>−14</sup></td><td align="char" valign="top" char="." charoff="50">0.22</td><td align="char" valign="top" char="(" charoff="50">1.22 (1.16–1.28)</td><td align="center" valign="top" charoff="50">2.53 × 10<sup>−15</sup></td><td align="left" valign="top" charoff="50">7.58 × 10<sup>−28</sup></td></tr><tr><td align="left" valign="top" charoff="50">5p15.3</td><td align="char" valign="top" char="." charoff="50">1282319</td><td align="center" valign="top" charoff="50"><italic>TERT</italic></td><td align="center" valign="top" charoff="50">rs7726159</td><td align="center" valign="top" charoff="50">A/C</td><td align="char" valign="top" char="." charoff="50">0.34</td><td align="char" valign="top" char="(" charoff="50">1.09 (1.05–1.13)</td><td align="left" valign="top" charoff="50">2.19 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.35</td><td align="char" valign="top" char="(" charoff="50">1.07 (1.02–1.11)</td><td align="center" valign="top" charoff="50">1.79 × 10<sup>−3</sup></td><td align="left" valign="top" charoff="50">3.31 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">5p15.3</td><td align="char" valign="top" char="." charoff="50">1297488</td><td align="center" valign="top" charoff="50"><italic>TERT</italic></td><td align="center" valign="top" charoff="50">rs2736108</td><td align="center" valign="top" charoff="50">T/C</td><td align="char" valign="top" char="." charoff="50">0.29</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.86–0.93)</td><td align="left" valign="top" charoff="50">1.41 × 10<sup>−8</sup></td><td align="char" valign="top" char="." charoff="50">0.29</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.86–0.93)</td><td align="center" valign="top" charoff="50">4.05 × 10<sup>−7</sup></td><td align="left" valign="top" charoff="50">3.05 × 10<sup>−14</sup></td></tr><tr><td align="left" valign="top" charoff="50">6q25.1</td><td align="char" valign="top" char="." charoff="50">151918856</td><td align="center" valign="top" charoff="50"><italic>ESR1</italic></td><td align="center" valign="top" charoff="50">rs12662670</td><td align="center" valign="top" charoff="50">T/G</td><td align="char" valign="top" char="." charoff="50">0.08</td><td align="char" valign="top" char="(" charoff="50">1.20 (1.18–1.32)</td><td align="left" valign="top" charoff="50">8.90 × 10<sup>−15</sup></td><td align="char" valign="top" char="." charoff="50">0.09</td><td align="char" valign="top" char="(" charoff="50">1.19 (1.11–1.27)</td><td align="center" valign="top" charoff="50">9.67 × 10<sup>−7</sup></td><td align="left" valign="top" charoff="50">1.32 × 10<sup>−19</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>6q25.1</td><td align="char" valign="top" char="." charoff="50">151946152</td><td align="center" valign="top" charoff="50"><italic>ESR1</italic></td><td align="center" valign="top" charoff="50">rs11155804</td><td align="center" valign="top" charoff="50">A/T</td><td align="char" valign="top" char="." charoff="50">0.34</td><td align="char" valign="top" char="(" charoff="50">1.16 (1.12–1.19)</td><td align="left" valign="top" charoff="50">8.18 × 10<sup>−18</sup></td><td align="char" valign="top" char="." charoff="50">0.36</td><td align="char" valign="top" char="(" charoff="50">1.15 (1.11–1.20)</td><td align="center" valign="top" charoff="50">0.02</td><td align="left" valign="top" charoff="50">3.75 × 10<sup>−28</sup></td></tr><tr><td align="left" valign="top" charoff="50">10q21.2</td><td align="char" valign="top" char="." charoff="50">64278682</td><td align="center" valign="top" charoff="50"><italic>ZNF365</italic></td><td align="center" valign="top" charoff="50">rs10995190</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.16</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.85–0.93)</td><td align="left" valign="top" charoff="50">3.75 × 10<sup>−8</sup></td><td align="char" valign="top" char="." charoff="50">0.16</td><td align="char" valign="top" char="(" charoff="50">0.99 (0.94–1.04)</td><td align="center" valign="top" charoff="50">0.66</td><td align="left" valign="top" charoff="50">8.23 × 10<sup>−6</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>10q25.2</td><td align="char" valign="top" char="." charoff="50">114782803</td><td align="center" valign="top" charoff="50"><italic>TCF7L2</italic></td><td align="center" valign="top" charoff="50">rs6585202</td><td align="center" valign="top" charoff="50">T/C</td><td align="char" valign="top" char="." charoff="50">0.46</td><td align="char" valign="top" char="(" charoff="50">1.06 (1.04–1.10)</td><td align="left" valign="top" charoff="50">3.35 × 10<sup>−5</sup></td><td align="char" valign="top" char="." charoff="50">0.47</td><td align="char" valign="top" char="(" charoff="50">1.10 (1.05–1.14)</td><td align="center" valign="top" charoff="50">6.08 × 10<sup>−6</sup></td><td align="left" valign="top" charoff="50">1.32 × 10<sup>−9</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>11p15.5</td><td align="char" valign="top" char="." charoff="50">1902097</td><td align="center" valign="top" charoff="50"><italic>LSP1</italic></td><td align="center" valign="top" charoff="50">rs4980383</td><td align="center" valign="top" charoff="50">C/T</td><td align="char" valign="top" char="." charoff="50">0.44</td><td align="char" valign="top" char="(" charoff="50">1.08 (1.05–1.12)</td><td align="left" valign="top" charoff="50">3.02 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.45</td><td align="char" valign="top" char="(" charoff="50">1.07 (1.03–1.11)</td><td align="center" valign="top" charoff="50">7.73 × 10<sup>−4</sup></td><td align="left" valign="top" charoff="50">9.41 × 10<sup>−9</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>12p11.2</td><td align="char" valign="top" char="." charoff="50">28174817</td><td align="center" valign="top" charoff="50"><italic>PTHLH</italic></td><td align="center" valign="top" charoff="50">rs7297051</td><td align="center" valign="top" charoff="50">C/T</td><td align="char" valign="top" char="." charoff="50">0.24</td><td align="char" valign="top" char="(" charoff="50">0.86 (0.83–0.89)</td><td align="left" valign="top" charoff="50">1.48 × 10<sup>−14</sup></td><td align="char" valign="top" char="." charoff="50">0.23</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.85–0.93)</td><td align="center" valign="top" charoff="50">2.89 × 10<sup>−7</sup></td><td align="left" valign="top" charoff="50">3.12 × 10<sup>−20</sup></td></tr><tr><td align="left" valign="top" charoff="50">12p11.2</td><td align="char" valign="top" char="." charoff="50">28155080</td><td align="center" valign="top" charoff="50"><italic>PTHLH</italic></td><td align="center" valign="top" charoff="50">rs10771399</td><td align="center" valign="top" charoff="50">A/G</td><td align="char" valign="top" char="." charoff="50">0.12</td><td align="char" valign="top" char="(" charoff="50">0.79 (0.78–0.87)</td><td align="left" valign="top" charoff="50">3.82 × 10<sup>−13</sup></td><td align="char" valign="top" char="." charoff="50">0.10</td><td align="char" valign="top" char="(" charoff="50">0.86 (0.80–0.91)</td><td align="center" valign="top" charoff="50">2.55 × 10<sup>−6</sup></td><td align="left" valign="top" charoff="50">7.18 × 10<sup>−18</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>16q12.1</td><td align="char" valign="top" char="." charoff="50">52599188</td><td align="center" valign="top" charoff="50"><italic>TO</italic> × <italic>3</italic></td><td align="center" valign="top" charoff="50">rs4784227</td><td align="center" valign="top" charoff="50">C/T</td><td align="char" valign="top" char="." charoff="50">0.24</td><td align="char" valign="top" char="(" charoff="50">1.15 (1.11–1.19)</td><td align="left" valign="top" charoff="50">1.11 × 10<sup>−14</sup></td><td align="char" valign="top" char="." charoff="50">0.26</td><td align="char" valign="top" char="(" charoff="50">1.07 (1.02–1.12)</td><td align="center" valign="top" charoff="50">4.97 × 10<sup>−3</sup></td><td align="left" valign="top" charoff="50">6.44 × 10<sup>−15</sup></td></tr><tr><td align="left" valign="top" charoff="50">16q12.2</td><td align="char" valign="top" char="." charoff="50">53813367</td><td align="center" valign="top" charoff="50"><italic>FTO</italic></td><td align="center" valign="top" charoff="50">rs17817449</td><td align="center" valign="top" charoff="50">T/G</td><td align="char" valign="top" char="." charoff="50">0.41</td><td align="char" valign="top" char="(" charoff="50">0.91 (0.89–0.95)</td><td align="left" valign="top" charoff="50">2.83 × 10<sup>−7</sup></td><td align="char" valign="top" char="." charoff="50">0.41</td><td align="char" valign="top" char="(" charoff="50">0.95 (0.92–0.99)</td><td align="center" valign="top" charoff="50">0.02</td><td align="left" valign="top" charoff="50">5.26 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">16q12.2</td><td align="char" valign="top" char="." charoff="50">53855291</td><td align="center" valign="top" charoff="50"><italic>FTO</italic></td><td align="center" valign="top" charoff="50">rs11075995</td><td align="center" valign="top" charoff="50">T/A</td><td align="char" valign="top" char="." charoff="50">0.24</td><td align="char" valign="top" char="(" charoff="50">1.11 (1.07–1.15)</td><td align="left" valign="top" charoff="50">3.30 × 10<sup>−8</sup></td><td align="char" valign="top" char="." charoff="50">0.24</td><td align="char" valign="top" char="(" charoff="50">1.01 (0.97–1.06)</td><td align="center" valign="top" charoff="50">0.61</td><td align="left" valign="top" charoff="50">1.56 × 10<sup>−6</sup></td></tr><tr><td align="left" valign="top" charoff="50">19p13.1</td><td align="char" valign="top" char="." charoff="50">17389704</td><td align="center" valign="top" charoff="50"><italic>MERIT40</italic></td><td align="center" valign="top" charoff="50">rs8170</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.19</td><td align="char" valign="top" char="(" charoff="50">1.15 (1.11–1.20)</td><td align="left" valign="top" charoff="50">1.35 × 10<sup>−12</sup></td><td align="char" valign="top" char="." charoff="50">0.19</td><td align="char" valign="top" char="(" charoff="50">1.17 (1.11–1.23)</td><td align="center" valign="top" charoff="50">7.29 × 10<sup>−10</sup></td><td align="left" valign="top" charoff="50">6.64 × 10<sup>−21</sup></td></tr><tr><td align="left" valign="top" charoff="50"><xref ref-type="fn" rid="t1-fn3">†</xref>19p13.1</td><td align="char" valign="top" char="." charoff="50">17393925</td><td align="center" valign="top" charoff="50"><italic>ADHB8</italic></td><td align="center" valign="top" charoff="50">rs56069439</td><td align="center" valign="top" charoff="50">C/A</td><td align="char" valign="top" char="." charoff="50">0.30</td><td align="char" valign="top" char="(" charoff="50">1.16 (1.13–1.20)</td><td align="left" valign="top" charoff="50">8.25 × 10<sup>−19</sup></td><td align="char" valign="top" char="." charoff="50">0.30</td><td align="char" valign="top" char="(" charoff="50">1.19 (1.14–1.24)</td><td align="center" valign="top" charoff="50">1.42 × 10<sup>−15</sup></td><td align="left" valign="top" charoff="50">1.49 × 10<sup>−32</sup></td></tr></tbody></table><table-wrap-foot><fn id="t1-fn1"><p>CI, confidence interval; EAF, effect allele frequency; ER, oestrogen receptor; GWAS, genome-wide association studies; HR, hazard ratio; OR, odds ratio; SNP, single-nucleotide polymorphism.</p></fn><fn id="t1-fn2"><p><sup>*</sup><italic>P</italic> values from iCOGS/BCAC and meta-analysis for ER-negative breast cancer were estimated by <italic>z</italic>-test. <italic>P</italic> values for <italic>BRCA1</italic> carriers were estimated by a kinship-adjusted retrospective likelihood approach.</p></fn><fn id="t1-fn3"><p><sup>†</sup>SNPs with more significant associations with ER-negative disease than known index SNPs from these loci.</p></fn></table-wrap-foot></table-wrap><table-wrap position="float" id="t2"><label>Table 2</label><caption><title>Novel associations of common genetic variants with ER-negative breast cancer risk.</title></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="char" char="."></col><col align="center"></col><col align="center"></col><col align="char" char="."></col><col align="center"></col><col align="char" char="."></col><col align="char" char="("></col><col align="left"></col><col align="char" char="."></col><col align="char" char="("></col><col align="left"></col><col align="left"></col></colgroup><thead valign="bottom"><tr><th align="left" valign="top" charoff="50"> </th><th align="char" valign="top" char="." charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th align="char" valign="top" char="." charoff="50"> </th><th align="center" valign="top" charoff="50"> </th><th colspan="3" align="center" valign="top" char="." charoff="50"><bold>iCOGS/GWAS ER-negative</bold><hr></hr></th><th colspan="3" align="center" valign="top" char="." charoff="50"><bold>BRCA1 carriers</bold><hr></hr></th><th align="center" valign="top" charoff="50"><bold>Meta-analysis</bold></th></tr><tr><th align="center" valign="top" charoff="50"><bold>Location</bold></th><th align="center" valign="top" char="." charoff="50"><bold>Position</bold></th><th align="center" valign="top" charoff="50"><bold>Nearest gene</bold></th><th align="center" valign="top" charoff="50"><bold>SNP</bold></th><th align="center" valign="top" char="." charoff="50"><italic><bold>r</bold></italic><sup><bold>2</bold></sup></th><th align="center" valign="top" charoff="50"><bold>Allele</bold></th><th align="center" valign="top" char="." charoff="50"><bold>EAF</bold></th><th align="center" valign="top" char="(" charoff="50"><bold>OR (95% CI)</bold></th><th align="center" valign="top" charoff="50"><italic><bold>P</bold></italic><xref ref-type="fn" rid="t2-fn2">*</xref></th><th align="center" valign="top" char="." charoff="50"><bold>EAF</bold></th><th align="center" valign="top" char="(" charoff="50"><bold>HR (95% CI)</bold></th><th align="center" valign="top" charoff="50"><italic><bold>P</bold></italic><xref ref-type="fn" rid="t2-fn2">*</xref></th><th align="center" valign="top" charoff="50"><italic><bold>P</bold></italic><xref ref-type="fn" rid="t2-fn2">*</xref></th></tr></thead><tbody valign="top"><tr><td align="left" valign="top" charoff="50">2p23.2</td><td align="char" valign="top" char="." charoff="50">29119585</td><td align="center" valign="top" charoff="50"><italic>WDR43</italic></td><td align="center" valign="top" charoff="50">rs67073037</td><td align="char" valign="top" char="." charoff="50">0.98</td><td align="center" valign="top" charoff="50">A/T</td><td align="char" valign="top" char="." charoff="50">0.24</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.88–0.95)</td><td align="left" valign="top" charoff="50">3.20 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.87–0.96)</td><td align="left" valign="top" charoff="50">4.58 × 10<sup>−4</sup></td><td align="left" valign="top" charoff="50">4.76 × 10<sup>−9</sup></td></tr><tr><td align="left" valign="top" charoff="50">2p23.2</td><td align="char" valign="top" char="." charoff="50">29160421</td><td align="center" valign="top" charoff="50"><italic>WDR43</italic></td><td align="center" valign="top" charoff="50">rs6734079</td><td align="char" valign="top" char="." charoff="50">0.99</td><td align="center" valign="top" charoff="50">T/A</td><td align="char" valign="top" char="." charoff="50">0.23</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.88–0.95)</td><td align="left" valign="top" charoff="50">3.99 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.87–0.96)</td><td align="left" valign="top" charoff="50">4.55 × 10<sup>−4</sup></td><td align="left" valign="top" charoff="50">5.50 × 10<sup>−9</sup></td></tr><tr><td align="left" valign="top" charoff="50">2p23.2</td><td align="char" valign="top" char="." charoff="50">29120733</td><td align="center" valign="top" charoff="50"><italic>WDR43</italic></td><td align="center" valign="top" charoff="50">rs4577244</td><td align="char" valign="top" char="." charoff="50">1</td><td align="center" valign="top" charoff="50">C/T</td><td align="char" valign="top" char="." charoff="50">0.23</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.89–0.95)</td><td align="left" valign="top" charoff="50">6.36 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.88–0.96)</td><td align="left" valign="top" charoff="50">5.48 × 10<sup>−4</sup></td><td align="left" valign="top" charoff="50">1.05 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50"> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td></tr><tr><td align="left" valign="top" charoff="50">2q33</td><td align="char" valign="top" char="." charoff="50">201717014</td><td align="center" valign="top" charoff="50"><italic>CLK1</italic></td><td align="center" valign="top" charoff="50">rs74943274</td><td align="char" valign="top" char="." charoff="50">0.98</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.015</td><td align="char" valign="top" char="(" charoff="50">1.34 (1.18–1.52)</td><td align="left" valign="top" charoff="50">5.89 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.02</td><td align="char" valign="top" char="(" charoff="50">1.20 (1.03–1.41)</td><td align="left" valign="top" charoff="50">0.012</td><td align="left" valign="top" charoff="50">6.00 × 10<sup>−7</sup></td></tr><tr><td align="left" valign="top" charoff="50">2q33</td><td align="char" valign="top" char="." charoff="50">201733341</td><td align="center" valign="top" charoff="50"><italic>CLK1/PPIL3</italic></td><td align="center" valign="top" charoff="50">rs188686860</td><td align="char" valign="top" char="." charoff="50">0.98</td><td align="center" valign="top" charoff="50">C/T</td><td align="char" valign="top" char="." charoff="50">0.016</td><td align="char" valign="top" char="(" charoff="50">1.36 (1.20–1.53)</td><td align="left" valign="top" charoff="50">1.16 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.02</td><td align="char" valign="top" char="(" charoff="50">1.22 (1.04–1.42)</td><td align="left" valign="top" charoff="50">0.012</td><td align="left" valign="top" charoff="50">8.34 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">2q33</td><td align="char" valign="top" char="." charoff="50">201743594</td><td align="center" valign="top" charoff="50"><italic>PPIL3</italic></td><td align="center" valign="top" charoff="50">rs115635831</td><td align="char" valign="top" char="." charoff="50">1</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.015</td><td align="char" valign="top" char="(" charoff="50">1.36 (1.20–1.54)</td><td align="left" valign="top" charoff="50">1.07 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.02</td><td align="char" valign="top" char="(" charoff="50">1.21 (1.03–1.41)</td><td align="left" valign="top" charoff="50">0.018</td><td align="left" valign="top" charoff="50">1.26 × 10<sup>−7</sup></td></tr><tr><td align="left" valign="top" charoff="50">2q33</td><td align="char" valign="top" char="." charoff="50">201935871</td><td align="center" valign="top" charoff="50"><italic>FAM126B/NDUFB3</italic></td><td align="center" valign="top" charoff="50">rs114962751</td><td align="char" valign="top" char="." charoff="50">1</td><td align="center" valign="top" charoff="50">T/A</td><td align="char" valign="top" char="." charoff="50">0.016</td><td align="char" valign="top" char="(" charoff="50">1.36 (1.20–1.53)</td><td align="left" valign="top" charoff="50">1.17 × 10<sup>−6</sup></td><td align="char" valign="top" char="." charoff="50">0.02</td><td align="char" valign="top" char="(" charoff="50">1.22 (1.05–1.42)</td><td align="left" valign="top" charoff="50">0.011</td><td align="left" valign="top" charoff="50">7.24 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">13q22</td><td align="char" valign="top" char="." charoff="50">73957681</td><td align="center" valign="top" charoff="50"><italic>KLF5/KLF12</italic></td><td align="center" valign="top" charoff="50">rs6562760</td><td align="char" valign="top" char="." charoff="50">1</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.23</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.89–0.96)</td><td align="left" valign="top" charoff="50">1.85 × 10<sup>−5</sup></td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.85–0.94)</td><td align="left" valign="top" charoff="50">2.85 × 10<sup>−6</sup></td><td align="left" valign="top" charoff="50">4.98 × 10<sup>−10</sup></td></tr><tr><td align="left" valign="top" charoff="50">13q22</td><td align="char" valign="top" char="." charoff="50">73960952</td><td align="center" valign="top" charoff="50"><italic>KLF5/KLF12</italic></td><td align="center" valign="top" charoff="50">rs2181965</td><td align="char" valign="top" char="." charoff="50">0.99</td><td align="center" valign="top" charoff="50">G/A</td><td align="char" valign="top" char="." charoff="50">0.23</td><td align="char" valign="top" char="(" charoff="50">0.92 (0.89–0.96)</td><td align="left" valign="top" charoff="50">2.16 × 10<sup>−5</sup></td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.85–0.94)</td><td align="left" valign="top" charoff="50">2.39 × 10<sup>−6</sup></td><td align="left" valign="top" charoff="50">5.04 × 10<sup>−10</sup></td></tr><tr><td align="left" valign="top" charoff="50">13q22</td><td align="char" valign="top" char="." charoff="50">73964519</td><td align="center" valign="top" charoff="50"><italic>KLF5/KLF12</italic></td><td align="center" valign="top" charoff="50">rs8002929</td><td align="char" valign="top" char="." charoff="50">1</td><td align="center" valign="top" charoff="50">A/G</td><td align="char" valign="top" char="." charoff="50">0.23</td><td align="char" valign="top" char="(" charoff="50">0.93 (0.89–0.96)</td><td align="left" valign="top" charoff="50">2.52 × 10<sup>−5</sup></td><td align="char" valign="top" char="." charoff="50">0.20</td><td align="char" valign="top" char="(" charoff="50">0.89 (0.85–0.94)</td><td align="left" valign="top" charoff="50">1.71 × 10<sup>−6</sup></td><td align="left" valign="top" charoff="50">5.35 × 10<sup>−10</sup></td></tr><tr><td align="left" valign="top" charoff="50"> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td><td> </td></tr><tr><td align="left" valign="top" charoff="50">13q22</td><td align="char" valign="top" char="." charoff="50">73806982</td><td align="center" valign="top" charoff="50"><italic>KLF5/KLF12</italic></td><td align="center" valign="top" charoff="50">rs12870942</td><td align="char" valign="top" char="." charoff="50">0.99</td><td align="center" valign="top" charoff="50">T/C</td><td align="char" valign="top" char="." charoff="50">0.32</td><td align="char" valign="top" char="(" charoff="50">1.09 (1.05–1.13)</td><td align="left" valign="top" charoff="50">2.71 × 10<sup>−7</sup></td><td align="char" valign="top" char="." charoff="50">0.30</td><td align="char" valign="top" char="(" charoff="50">1.06 (1.01–1.10)</td><td align="left" valign="top" charoff="50">0.01</td><td align="left" valign="top" charoff="50">3.75 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">13q22</td><td align="char" valign="top" char="." charoff="50">73811471</td><td align="center" valign="top" charoff="50"><italic>KLF5/KLF12</italic></td><td align="center" valign="top" charoff="50">rs17181761</td><td align="char" valign="top" char="." charoff="50">0.99</td><td align="center" valign="top" charoff="50">A/C</td><td align="char" valign="top" char="." charoff="50">0.32</td><td align="char" valign="top" char="(" charoff="50">1.09 (1.05–1.12)</td><td align="left" valign="top" charoff="50">3.44 × 10<sup>−7</sup></td><td align="char" valign="top" char="." charoff="50">0.30</td><td align="char" valign="top" char="(" charoff="50">1.06 (1.01–1.10)</td><td align="left" valign="top" charoff="50">9.29 × 10<sup>−3</sup></td><td align="left" valign="top" charoff="50">4.23 × 10<sup>−8</sup></td></tr><tr><td align="left" valign="top" charoff="50">13q22</td><td align="char" valign="top" char="." charoff="50">73813803</td><td align="center" valign="top" charoff="50"><italic>KLF5/KLF12</italic></td><td align="center" valign="top" charoff="50">rs9573140</td><td align="char" valign="top" char="." charoff="50">1</td><td align="center" valign="top" charoff="50">A/G</td><td align="char" valign="top" char="." charoff="50">0.32</td><td align="char" valign="top" char="(" charoff="50">1.09 (1.05–1.12)</td><td align="left" valign="top" charoff="50">3.77 × 10<sup>−7</sup></td><td align="char" valign="top" char="." charoff="50">0.30</td><td align="char" valign="top" char="(" charoff="50">1.06 (1.01–1.10)</td><td align="left" valign="top" charoff="50">0.01</td><td align="left" valign="top" charoff="50">5.38 × 10<sup>−8</sup></td></tr></tbody></table><table-wrap-foot><fn id="t2-fn1"><p>CI, confidence interval; EAF, Effect allele frequency; ER, oestrogen receptor; GWAS, genome-wide association studies; HR, hazard ratio; OR, odds ratio; <italic>r</italic><sup>2</sup>, imputation accuracy; SNP, single-nucleotide polymorphism.</p></fn><fn id="t2-fn2"><p><sup>*</sup><italic>P</italic> values from iCOGS/BCAC and meta-analysis for ER-negative breast cancer were estimated by <italic>z</italic>-test. <italic>P</italic> values for <italic>BRCA1</italic> carriers were estimated by a kinship-adjusted retrospective likelihood approach.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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