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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Association of breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3</title><author><name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name><affiliation><nlm:aff id="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</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="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author><author><name sortKey="Kuchenbaeker, Karoline B" sort="Kuchenbaeker, Karoline B" uniqKey="Kuchenbaeker K" first="Karoline B." last="Kuchenbaeker">Karoline B. Kuchenbaeker</name><affiliation><nlm:aff id="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="Aff3">The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton, Cambridge, CB10 1HH UK</nlm:aff></affiliation></author><author><name sortKey="Pastinen, Tomi" sort="Pastinen, Tomi" uniqKey="Pastinen T" first="Tomi" last="Pastinen">Tomi Pastinen</name><affiliation><nlm:aff id="Aff4">Department of Human Genetics, McGill University, Montreal, QC H3A 1B1 Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5">McGill University and Genome Quebec Innovation Centre, Montreal, QC H3A 0G1 Canada</nlm:aff></affiliation></author><author><name sortKey="Droit, Arnaud" sort="Droit, Arnaud" uniqKey="Droit A" first="Arnaud" last="Droit">Arnaud Droit</name><affiliation><nlm:aff id="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author><author><name sortKey="Lemacon, Audrey" sort="Lemacon, Audrey" uniqKey="Lemacon A" first="Audrey" last="Lemaçon">Audrey Lemaçon</name><affiliation><nlm:aff id="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author><author><name sortKey="Adlard, Julian" sort="Adlard, Julian" uniqKey="Adlard J" first="Julian" last="Adlard">Julian Adlard</name><affiliation><nlm:aff id="Aff6">Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA UK</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="Aff7">Department of Clinical Genetics, Helsinki University Hospital, HUS, Meilahdentie 2, P.O. BOX 160, 00029 Helsinki, Finland</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="Aff8">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5 Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff9">Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name><affiliation><nlm:aff id="Aff10">Department of Pathology hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavík, Iceland</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11">BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101 Reykjavík, Iceland</nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="Aff12">Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105 Kiel, Germany</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="Aff13">Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, 1515 Pressler Street CBP 5, Houston, TX 77030 USA</nlm:aff></affiliation></author><author><name sortKey="Azzollini, Jacopo" sort="Azzollini, Jacopo" uniqKey="Azzollini J" first="Jacopo" last="Azzollini">Jacopo Azzollini</name><affiliation><nlm:aff id="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Bane, Anita" sort="Bane, Anita" uniqKey="Bane A" first="Anita" last="Bane">Anita Bane</name><affiliation><nlm:aff id="Aff15">Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, 711 Concession Street, Hamilton, ON L8V 1C3 Canada</nlm:aff></affiliation></author><author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name><affiliation><nlm:aff id="Aff16">Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff17">Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="Aff18">Biomedical Network on Rare Diseases (CIBERER), 28029 Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19">Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline Berthet</name><affiliation><nlm:aff id="Aff20">Centre François Baclesse, 3 avenue Général Harris, 14076 Caen, France</nlm:aff></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name><affiliation><nlm:aff id="Aff21">Department of Clinical Genetics, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bobolis, Kristie" sort="Bobolis, Kristie" uniqKey="Bobolis K" first="Kristie" last="Bobolis">Kristie Bobolis</name><affiliation><nlm:aff id="Aff22">City of Hope Clinical Cancer Genomics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010 USA</nlm:aff></affiliation></author><author><name sortKey="Bonadona, Valerie" sort="Bonadona, Valerie" uniqKey="Bonadona V" first="Valérie" last="Bonadona">Valérie Bonadona</name><affiliation><nlm:aff id="Aff23">Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</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="Aff24">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Via Ripamonti 435, 20141 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Bradbury, Angela R" sort="Bradbury, Angela R" uniqKey="Bradbury A" first="Angela R." last="Bradbury">Angela R. Bradbury</name><affiliation><nlm:aff id="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</nlm:aff></affiliation></author><author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name><affiliation><nlm:aff id="Aff26">Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, EX1 2ED UK</nlm:aff></affiliation></author><author><name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name><affiliation><nlm:aff id="Aff27">Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</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="Aff28">Department of Medicine, Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT 84112 USA</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="Aff29">Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Chiquette, Jocelyne" sort="Chiquette, Jocelyne" uniqKey="Chiquette J" first="Jocelyne" last="Chiquette">Jocelyne Chiquette</name><affiliation><nlm:aff id="Aff30">Unité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Quebec, QC G1S 4L8 Canada</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="Aff31">Departments of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032 USA</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="Aff32">Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Ghent, Belgium</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="Aff33">Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111 USA</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="Aff16">Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name><affiliation><nlm:aff id="Aff34">Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, G51 4TF UK</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="Aff35">Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="De Leeneer, Kim" sort="De Leeneer, Kim" uniqKey="De Leeneer K" first="Kim" last="De Leeneer">Kim De Leeneer</name><affiliation><nlm:aff id="Aff32">Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Ghent, Belgium</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="Aff36">Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital, Clinical and Molecular Genetics Area, Passeig Vall d’Hebron 119-129, 08035 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Ding, Yuan Chun" sort="Ding, Yuan Chun" uniqKey="Ding Y" first="Yuan Chun" last="Ding">Yuan Chun Ding</name><affiliation><nlm:aff id="Aff37">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA</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="Aff38">Cancer Bioimmunotherapy Unit, Department of Medical Oncology, Centro di Riferimento Oncologico, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) National Cancer Institute, Via Franco Gallini 2, 33081 Aviano, PN Italy</nlm:aff></affiliation><affiliation><nlm:aff id="Aff39">University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD Australia</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="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</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="Aff40">Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007 South Africa</nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="Aff41">Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, UK</nlm:aff></affiliation></author><author><name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name><affiliation><nlm:aff id="Aff42">Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, SM2 5NG UK</nlm:aff></affiliation></author><author><name sortKey="Einbeigi, Zakaria" sort="Einbeigi, Zakaria" uniqKey="Einbeigi Z" first="Zakaria" last="Einbeigi">Zakaria Einbeigi</name><affiliation><nlm:aff id="Aff43">Department of Oncology, Sahlgrenska University Hospital, 41345 Göteborg, Sweden</nlm:aff></affiliation></author><author><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><affiliation><nlm:aff id="Aff44">Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="Aff45">Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff46">LIFE, Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Gareth Evans, D" sort="Gareth Evans, D" uniqKey="Gareth Evans D" first="D." last="Gareth Evans">D. Gareth Evans</name><affiliation><nlm:aff id="Aff47">Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL UK</nlm:aff></affiliation></author><author><name sortKey="Feliubadalo, Lidia" sort="Feliubadalo, Lidia" uniqKey="Feliubadalo L" first="Lidia" last="Feliubadalo">Lidia Feliubadalo</name><affiliation><nlm:aff id="Aff48">Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><nlm:aff id="Aff49">Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Zluty kopec 7, 65653 Brno, Czech Republic</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="Aff50">Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research “Demokritos”, Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi Attikis, Athens, Greece</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="Aff51">Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC Canada</nlm:aff></affiliation></author><author><name sortKey="Fountzilas, George" sort="Fountzilas, George" uniqKey="Fountzilas G" first="George" last="Fountzilas">George Fountzilas</name><affiliation><nlm:aff id="Aff52">Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloníki, Greece</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="Aff53">The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54">Sackler Faculty of Medicine, Tel Aviv University, 69978 Ramat Aviv, Israel</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Ganschow, Pamela" sort="Ganschow, Pamela" uniqKey="Ganschow P" first="Pamela" last="Ganschow">Pamela Ganschow</name><affiliation><nlm:aff id="Aff55">Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010 USA</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="Aff56">UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA 90095-6900 USA</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="Aff57">Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA USA</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="Aff58">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033 USA</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="Aff62">Department of Clincial Genetics, Rigshospitalet, Blegdamsvej 9, 4062 Copenhagen, Denmark</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="Aff8">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5 Canada</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="Aff63">Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, Kansas City, Kansas USA</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="Aff64">Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132 USA</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="Aff65">Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD USA</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="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Hahnen, Eric" sort="Hahnen, Eric" uniqKey="Hahnen E" first="Eric" last="Hahnen">Eric Hahnen</name><affiliation><nlm:aff id="Aff67">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</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="Aff68">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany</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="Aff69">Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark</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="Aff70">Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</nlm:aff></affiliation></author><author><name sortKey="Hays, John L" sort="Hays, John L" uniqKey="Hays J" first="John L." last="Hays">John L. Hays</name><affiliation><nlm:aff id="Aff71">Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff72">Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University, Columbus, OH 43210 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff73">Comprehensive Cancer Center Arthur C. James Cancer Hospital and Richard J. Solove Research Institute Biomedical Research Tower, Room 588, 460 West 12th Avenue, Columbus, OH 43210 USA</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="Aff75">Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name><affiliation><nlm:aff id="Aff76">Center for Medical Genetics, NorthShore University HealthSystem, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201 USA</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="Aff77">N.N. Petrov Institute of Oncology, St. Petersburg, Russia 197758</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="Aff78">Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC 20007 USA</nlm:aff></affiliation></author><author><name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name><affiliation><nlm:aff id="Aff79">Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, SE1 9RT UK</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="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</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="Aff80">Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000 Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff81">Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3010 Australia</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="Aff82">Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, 08661 Vilnius, Lithuania</nlm:aff></affiliation><affiliation><nlm:aff id="Aff83">State Research Institute Centre for Innovative Medicine, Zygymantu st. 9, Vilnius, Lithuania</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="Aff84">Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Århus N, Denmark</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="Aff85">Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue Suite 300, Fremont, CA 94538 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff86">Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA USA</nlm:aff></affiliation></author><author><name sortKey="Joseph, Vijai" sort="Joseph, Vijai" uniqKey="Joseph V" first="Vijai" last="Joseph">Vijai Joseph</name><affiliation><nlm:aff id="Aff87">Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044 USA</nlm:aff></affiliation></author><author><name sortKey="Just, Walter" sort="Just, Walter" uniqKey="Just W" first="Walter" last="Just">Walter Just</name><affiliation><nlm:aff id="Aff88">Institute of Human Genetics, University of Ulm, 89091 Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Kaczmarek, Katarzyna" sort="Kaczmarek, Katarzyna" uniqKey="Kaczmarek K" first="Katarzyna" last="Kaczmarek">Katarzyna Kaczmarek</name><affiliation><nlm:aff id="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</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="Aff89">Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA 90048 USA</nlm:aff></affiliation></author><author><name sortKey="Kets, Carolien M" sort="Kets, Carolien M" uniqKey="Kets C" first="Carolien M." last="Kets">Carolien M. Kets</name><affiliation><nlm:aff id="Aff91">Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Kirk, Judy" sort="Kirk, Judy" uniqKey="Kirk J" first="Judy" last="Kirk">Judy Kirk</name><affiliation><nlm:aff id="Aff92">Westmead Hospital, Familial Cancer Service, Hawkebury Road, P.O. Box 533, Wentworthville, NSW 2145 Australia</nlm:aff></affiliation></author><author><name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name><affiliation><nlm:aff id="Aff93">Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, P.O. Box 5201, 3008 AE Rotterdam, The Netherlands</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="Aff53">The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel</nlm:aff></affiliation></author><author><name sortKey="Laurent, Maite" sort="Laurent, Maite" uniqKey="Laurent M" first="Maïté" last="Laurent">Maïté Laurent</name><affiliation><nlm:aff id="Aff27">Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</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="Aff48">Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Leslie, Goska" sort="Leslie, Goska" uniqKey="Leslie G" first="Goska" last="Leslie">Goska Leslie</name><affiliation><nlm:aff id="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff89">Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA 90048 USA</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="Aff94">Genetic Epidemiology of Cancer Team, INSERM U900, Institut Curie Mines ParisTech, PSL University, 26 rue d’Ulm, 75248 Paris Cedex 05, France</nlm:aff></affiliation></author><author><name sortKey="Liljegren, Annelie" sort="Liljegren, Annelie" uniqKey="Liljegren A" first="Annelie" last="Liljegren">Annelie Liljegren</name><affiliation><nlm:aff id="Aff95">Department of Oncology, Karolinska University Hospital, 17176 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Loman, Niklas" sort="Loman, Niklas" uniqKey="Loman N" first="Niklas" last="Loman">Niklas Loman</name><affiliation><nlm:aff id="Aff96">Department of Oncology, Lund University Hospital, 22185 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Loud, Jennifer T" sort="Loud, Jennifer T" uniqKey="Loud J" first="Jennifer T." last="Loud">Jennifer T. Loud</name><affiliation><nlm:aff id="Aff65">Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD USA</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="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Mariani, Milena" sort="Mariani, Milena" uniqKey="Mariani M" first="Milena" last="Mariani">Milena Mariani</name><affiliation><nlm:aff id="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</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="Aff97">Lyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR5292, University of Lyon, Lyon, France</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne E J" sort="Meijers Heijboer, Hanne E J" uniqKey="Meijers Heijboer H" first="Hanne E. J." last="Meijers-Heijboer">Hanne E. J. Meijers-Heijboer</name><affiliation><nlm:aff id="Aff98">Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands</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="Aff12">Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105 Kiel, Germany</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="Aff99">NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263 USA</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="Aff100">Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128 Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="Aff9">Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff101">Department of Laboratory Medicine and the Keenan Research Centre of the Li Ka Shing Knowledge Institute, St Michael’s Hospital, Toronto, ON Canada</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="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</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="Aff37">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA</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="Aff102">Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, Haartmaninkatu 8, HUS, P.O. BOX 700, 00029 Helsinki, Finland</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="Aff103">Department of Medicine and Genetics, University of California, 513 Parnassus Ave., HSE 901E, San Francisco, CA 94143-0794 USA</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="Aff104">Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</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="Aff105">Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC 2115, Chicago, IL USA</nlm:aff></affiliation></author><author><name sortKey="Ong, Kai Ren" sort="Ong, Kai Ren" uniqKey="Ong K" first="Kai-Ren" last="Ong">Kai-Ren Ong</name><affiliation><nlm:aff id="Aff106">West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Oosterwijk, Jan C" sort="Oosterwijk, Jan C" uniqKey="Oosterwijk J" first="Jan C." last="Oosterwijk">Jan C. Oosterwijk</name><affiliation><nlm:aff id="Aff107">Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands</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="Aff17">Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="Aff18">Biomedical Network on Rare Diseases (CIBERER), 28029 Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="Aff108">Unit of Medical Genetics, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Viale Morgagni 50, 50134 Florence, Italy</nlm:aff></affiliation></author><author><name sortKey="Park, Sue Kyung" sort="Park, Sue Kyung" uniqKey="Park S" first="Sue Kyung" last="Park">Sue Kyung Park</name><affiliation><nlm:aff id="Aff109">Department of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799 Korea</nlm:aff></affiliation></author><author><name sortKey="Pedersen, Inge Sokilde" sort="Pedersen, Inge Sokilde" uniqKey="Pedersen I" first="Inge Sokilde" last="Pedersen">Inge Sokilde Pedersen</name><affiliation><nlm:aff id="Aff110">Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Ålborg, Denmark</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="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Segura, Pedro Perez" sort="Segura, Pedro Perez" uniqKey="Segura P" first="Pedro Perez" last="Segura">Pedro Perez Segura</name><affiliation><nlm:aff id="Aff111">Department of Oncology, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</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="Aff112">IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO Campus, Via Adamello 16, 20139 Milan, Italy</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="Aff113">Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL 33612 USA</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="Aff114">Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab via GA Amadeo 42, 20133 Milan, Italy</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="Aff115">Department of Clinical Genetics, Karolinska University Hospital, L5:03, 171 76 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Rappaport Fuerhauser, Christine" sort="Rappaport Fuerhauser, Christine" uniqKey="Rappaport Fuerhauser C" first="Christine" last="Rappaport-Fuerhauser">Christine Rappaport-Fuerhauser</name><affiliation><nlm:aff id="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</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="Aff117">Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., 34362 Haifa, Israel</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="Aff118">Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA</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="Aff119">Clinical Genetics, Services Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA</nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Gustavo C" sort="Rodriguez, Gustavo C" uniqKey="Rodriguez G" first="Gustavo C." last="Rodriguez">Gustavo C. Rodriguez</name><affiliation><nlm:aff id="Aff120">Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, 2650 Ridge Avenue, Suite 1507, Walgreens, Evanston, IL 60201 USA</nlm:aff></affiliation></author><author><name sortKey="Rookus, Matti A" sort="Rookus, Matti A" uniqKey="Rookus M" first="Matti A." last="Rookus">Matti A. Rookus</name><affiliation><nlm:aff id="Aff121">Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita Katharina" sort="Schmutzler, Rita Katharina" uniqKey="Schmutzler R" first="Rita Katharina" last="Schmutzler">Rita Katharina Schmutzler</name><affiliation><nlm:aff id="Aff67">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff122">Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff123">Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Sevenet, Nicolas" sort="Sevenet, Nicolas" uniqKey="Sevenet N" first="Nicolas" last="Sevenet">Nicolas Sevenet</name><affiliation><nlm:aff id="Aff124">Oncogénétique, Institut Bergonié, 229 cours de l’Argonne, 33076 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Shah, Payal D" sort="Shah, Payal D" uniqKey="Shah P" first="Payal D." last="Shah">Payal D. Shah</name><affiliation><nlm:aff id="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</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="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Slavin, Thomas P" sort="Slavin, Thomas P" uniqKey="Slavin T" first="Thomas P." last="Slavin">Thomas P. Slavin</name><affiliation><nlm:aff id="Aff55">Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010 USA</nlm:aff></affiliation></author><author><name sortKey="Snape, Katie" sort="Snape, Katie" uniqKey="Snape K" first="Katie" last="Snape">Katie Snape</name><affiliation><nlm:aff id="Aff125">Medical Genetics Unit, St George’s, University of London, London, SW17 0RE UK</nlm:aff></affiliation></author><author><name sortKey="Sokolowska, Johanna" sort="Sokolowska, Johanna" uniqKey="Sokolowska J" first="Johanna" last="Sokolowska">Johanna Sokolowska</name><affiliation><nlm:aff id="Aff126">Laboratoire de génétique médicale Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan cedex 1, 54511 Vandoeuvre-les-Nancy, France</nlm:aff></affiliation></author><author><name sortKey="S Nderstrup, Ida Marie Heeholm" sort="S Nderstrup, Ida Marie Heeholm" uniqKey="S Nderstrup I" first="Ida Marie Heeholm" last="S Nderstrup">Ida Marie Heeholm S Nderstrup</name><affiliation><nlm:aff id="Aff127">Department of Pathology Region Zealand Section Slagelse, Slagelse Hospital, Ingemannsvej 18 Slagelse, Cpoenhagen, Denmark</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="Aff128">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC 3010 Australia</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="Aff129">Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD 4006 Australia</nlm:aff></affiliation></author><author><name sortKey="Stadler, Zsofia" sort="Stadler, Zsofia" uniqKey="Stadler Z" first="Zsofia" last="Stadler">Zsofia Stadler</name><affiliation><nlm:aff id="Aff130">Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY USA</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="Aff27">Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</nlm:aff></affiliation></author><author><name sortKey="Sukiennicki, Grzegorz" sort="Sukiennicki, Grzegorz" uniqKey="Sukiennicki G" first="Grzegorz" last="Sukiennicki">Grzegorz Sukiennicki</name><affiliation><nlm:aff id="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="Aff131">Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Tan, Yen" sort="Tan, Yen" uniqKey="Tan Y" first="Yen" last="Tan">Yen Tan</name><affiliation><nlm:aff id="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Tea, Muy Kheng" sort="Tea, Muy Kheng" uniqKey="Tea M" first="Muy-Kheng" last="Tea">Muy-Kheng Tea</name><affiliation><nlm:aff id="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</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="Aff132">Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="Aff133">Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal</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="Aff134">Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</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="Aff135">Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, 47500 Subang Jaya, Malaysia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff136">University Malaya Cancer Research Institute, University Malaya, 1 Jalan SS12/1A, 50603 Kuala Lumpur, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary Beth" sort="Terry, Mary Beth" uniqKey="Terry M" first="Mary Beth" last="Terry">Mary Beth Terry</name><affiliation><nlm:aff id="Aff137">Department of Epidemiology, Columbia University, New York, NY USA</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="Aff138">Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark</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="Aff139">Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia</nlm:aff></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation><nlm:aff id="Aff51">Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff140">Department of Medical Genetics Level 6 Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Hills Road, Box 134, Cambridge, CB2 0QQ UK</nlm:aff></affiliation></author><author><name sortKey="Tognazzo, Silvia" sort="Tognazzo, Silvia" uniqKey="Tognazzo S" first="Silvia" last="Tognazzo">Silvia Tognazzo</name><affiliation><nlm:aff id="Aff100">Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128 Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation><nlm:aff id="Aff141">Division of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH 43210 USA</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="Aff142">Department of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215 USA</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans M W" sort="Van Den Ouweland, Ans M W" uniqKey="Van Den Ouweland A" first="Ans M. W." last="Van Den Ouweland">Ans M. W. Van Den Ouweland</name><affiliation><nlm:aff id="Aff143">Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, 330 Brookline Avenue, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B." last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="Aff144">Department of Medical Genetics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Engelen, Klaartje" sort="Van Engelen, Klaartje" uniqKey="Van Engelen K" first="Klaartje" last="Van Engelen">Klaartje Van Engelen</name><affiliation><nlm:aff id="Aff145">Department of Clinical Genetics, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands</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="Aff40">Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007 South Africa</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="Aff146">Institute of Human Genetics, Charite Berlin, Campus Virchov Klinikum, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="Aff67">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T." last="Wijnen">Juul T. Wijnen</name><affiliation><nlm:aff id="Aff147">Department of Human Genetics & Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy" sort="Rebbeck, Timothy" uniqKey="Rebbeck T" first="Timothy" last="Rebbeck">Timothy Rebbeck</name><affiliation><nlm:aff id="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff148">Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA</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="Aff129">Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD 4006 Australia</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="Aff87">Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044 USA</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="Aff70">Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff149">Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</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="Aff150">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0372 Oslo, Norway</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27796716</idno><idno type="pmc">5222911</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911</idno><idno type="RBID">PMC:5222911</idno><idno type="doi">10.1007/s10549-016-4018-2</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000B38</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000B38</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Association of breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3</title><author><name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name><affiliation><nlm:aff id="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</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="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author><author><name sortKey="Kuchenbaeker, Karoline B" sort="Kuchenbaeker, Karoline B" uniqKey="Kuchenbaeker K" first="Karoline B." last="Kuchenbaeker">Karoline B. Kuchenbaeker</name><affiliation><nlm:aff id="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="Aff3">The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton, Cambridge, CB10 1HH UK</nlm:aff></affiliation></author><author><name sortKey="Pastinen, Tomi" sort="Pastinen, Tomi" uniqKey="Pastinen T" first="Tomi" last="Pastinen">Tomi Pastinen</name><affiliation><nlm:aff id="Aff4">Department of Human Genetics, McGill University, Montreal, QC H3A 1B1 Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5">McGill University and Genome Quebec Innovation Centre, Montreal, QC H3A 0G1 Canada</nlm:aff></affiliation></author><author><name sortKey="Droit, Arnaud" sort="Droit, Arnaud" uniqKey="Droit A" first="Arnaud" last="Droit">Arnaud Droit</name><affiliation><nlm:aff id="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author><author><name sortKey="Lemacon, Audrey" sort="Lemacon, Audrey" uniqKey="Lemacon A" first="Audrey" last="Lemaçon">Audrey Lemaçon</name><affiliation><nlm:aff id="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author><author><name sortKey="Adlard, Julian" sort="Adlard, Julian" uniqKey="Adlard J" first="Julian" last="Adlard">Julian Adlard</name><affiliation><nlm:aff id="Aff6">Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA UK</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="Aff7">Department of Clinical Genetics, Helsinki University Hospital, HUS, Meilahdentie 2, P.O. BOX 160, 00029 Helsinki, Finland</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="Aff8">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5 Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff9">Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada</nlm:aff></affiliation></author><author><name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name><affiliation><nlm:aff id="Aff10">Department of Pathology hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavík, Iceland</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11">BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101 Reykjavík, Iceland</nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="Aff12">Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105 Kiel, Germany</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="Aff13">Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, 1515 Pressler Street CBP 5, Houston, TX 77030 USA</nlm:aff></affiliation></author><author><name sortKey="Azzollini, Jacopo" sort="Azzollini, Jacopo" uniqKey="Azzollini J" first="Jacopo" last="Azzollini">Jacopo Azzollini</name><affiliation><nlm:aff id="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Bane, Anita" sort="Bane, Anita" uniqKey="Bane A" first="Anita" last="Bane">Anita Bane</name><affiliation><nlm:aff id="Aff15">Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, 711 Concession Street, Hamilton, ON L8V 1C3 Canada</nlm:aff></affiliation></author><author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name><affiliation><nlm:aff id="Aff16">Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff17">Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="Aff18">Biomedical Network on Rare Diseases (CIBERER), 28029 Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19">Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline Berthet</name><affiliation><nlm:aff id="Aff20">Centre François Baclesse, 3 avenue Général Harris, 14076 Caen, France</nlm:aff></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name><affiliation><nlm:aff id="Aff21">Department of Clinical Genetics, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bobolis, Kristie" sort="Bobolis, Kristie" uniqKey="Bobolis K" first="Kristie" last="Bobolis">Kristie Bobolis</name><affiliation><nlm:aff id="Aff22">City of Hope Clinical Cancer Genomics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010 USA</nlm:aff></affiliation></author><author><name sortKey="Bonadona, Valerie" sort="Bonadona, Valerie" uniqKey="Bonadona V" first="Valérie" last="Bonadona">Valérie Bonadona</name><affiliation><nlm:aff id="Aff23">Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</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="Aff24">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Via Ripamonti 435, 20141 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Bradbury, Angela R" sort="Bradbury, Angela R" uniqKey="Bradbury A" first="Angela R." last="Bradbury">Angela R. Bradbury</name><affiliation><nlm:aff id="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</nlm:aff></affiliation></author><author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name><affiliation><nlm:aff id="Aff26">Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, EX1 2ED UK</nlm:aff></affiliation></author><author><name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name><affiliation><nlm:aff id="Aff27">Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</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="Aff28">Department of Medicine, Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT 84112 USA</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="Aff29">Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Chiquette, Jocelyne" sort="Chiquette, Jocelyne" uniqKey="Chiquette J" first="Jocelyne" last="Chiquette">Jocelyne Chiquette</name><affiliation><nlm:aff id="Aff30">Unité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Quebec, QC G1S 4L8 Canada</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="Aff31">Departments of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032 USA</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="Aff32">Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Ghent, Belgium</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="Aff33">Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111 USA</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="Aff16">Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name><affiliation><nlm:aff id="Aff34">Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, G51 4TF UK</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="Aff35">Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="De Leeneer, Kim" sort="De Leeneer, Kim" uniqKey="De Leeneer K" first="Kim" last="De Leeneer">Kim De Leeneer</name><affiliation><nlm:aff id="Aff32">Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Ghent, Belgium</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="Aff36">Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital, Clinical and Molecular Genetics Area, Passeig Vall d’Hebron 119-129, 08035 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Ding, Yuan Chun" sort="Ding, Yuan Chun" uniqKey="Ding Y" first="Yuan Chun" last="Ding">Yuan Chun Ding</name><affiliation><nlm:aff id="Aff37">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA</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="Aff38">Cancer Bioimmunotherapy Unit, Department of Medical Oncology, Centro di Riferimento Oncologico, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) National Cancer Institute, Via Franco Gallini 2, 33081 Aviano, PN Italy</nlm:aff></affiliation><affiliation><nlm:aff id="Aff39">University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD Australia</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="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</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="Aff40">Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007 South Africa</nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="Aff41">Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, UK</nlm:aff></affiliation></author><author><name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name><affiliation><nlm:aff id="Aff42">Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, SM2 5NG UK</nlm:aff></affiliation></author><author><name sortKey="Einbeigi, Zakaria" sort="Einbeigi, Zakaria" uniqKey="Einbeigi Z" first="Zakaria" last="Einbeigi">Zakaria Einbeigi</name><affiliation><nlm:aff id="Aff43">Department of Oncology, Sahlgrenska University Hospital, 41345 Göteborg, Sweden</nlm:aff></affiliation></author><author><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><affiliation><nlm:aff id="Aff44">Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="Aff45">Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff46">LIFE, Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Gareth Evans, D" sort="Gareth Evans, D" uniqKey="Gareth Evans D" first="D." last="Gareth Evans">D. Gareth Evans</name><affiliation><nlm:aff id="Aff47">Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL UK</nlm:aff></affiliation></author><author><name sortKey="Feliubadalo, Lidia" sort="Feliubadalo, Lidia" uniqKey="Feliubadalo L" first="Lidia" last="Feliubadalo">Lidia Feliubadalo</name><affiliation><nlm:aff id="Aff48">Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><nlm:aff id="Aff49">Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Zluty kopec 7, 65653 Brno, Czech Republic</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="Aff50">Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research “Demokritos”, Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi Attikis, Athens, Greece</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="Aff51">Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC Canada</nlm:aff></affiliation></author><author><name sortKey="Fountzilas, George" sort="Fountzilas, George" uniqKey="Fountzilas G" first="George" last="Fountzilas">George Fountzilas</name><affiliation><nlm:aff id="Aff52">Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloníki, Greece</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="Aff53">The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54">Sackler Faculty of Medicine, Tel Aviv University, 69978 Ramat Aviv, Israel</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Ganschow, Pamela" sort="Ganschow, Pamela" uniqKey="Ganschow P" first="Pamela" last="Ganschow">Pamela Ganschow</name><affiliation><nlm:aff id="Aff55">Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010 USA</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="Aff56">UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA 90095-6900 USA</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="Aff57">Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA USA</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="Aff58">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033 USA</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="Aff62">Department of Clincial Genetics, Rigshospitalet, Blegdamsvej 9, 4062 Copenhagen, Denmark</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="Aff8">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5 Canada</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="Aff63">Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, Kansas City, Kansas USA</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="Aff64">Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132 USA</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="Aff65">Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD USA</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="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Hahnen, Eric" sort="Hahnen, Eric" uniqKey="Hahnen E" first="Eric" last="Hahnen">Eric Hahnen</name><affiliation><nlm:aff id="Aff67">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</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="Aff68">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany</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="Aff69">Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark</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="Aff70">Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</nlm:aff></affiliation></author><author><name sortKey="Hays, John L" sort="Hays, John L" uniqKey="Hays J" first="John L." last="Hays">John L. Hays</name><affiliation><nlm:aff id="Aff71">Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff72">Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University, Columbus, OH 43210 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff73">Comprehensive Cancer Center Arthur C. James Cancer Hospital and Richard J. Solove Research Institute Biomedical Research Tower, Room 588, 460 West 12th Avenue, Columbus, OH 43210 USA</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="Aff75">Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name><affiliation><nlm:aff id="Aff76">Center for Medical Genetics, NorthShore University HealthSystem, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201 USA</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="Aff77">N.N. Petrov Institute of Oncology, St. Petersburg, Russia 197758</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="Aff78">Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC 20007 USA</nlm:aff></affiliation></author><author><name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name><affiliation><nlm:aff id="Aff79">Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, SE1 9RT UK</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="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</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="Aff80">Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000 Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff81">Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3010 Australia</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="Aff82">Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, 08661 Vilnius, Lithuania</nlm:aff></affiliation><affiliation><nlm:aff id="Aff83">State Research Institute Centre for Innovative Medicine, Zygymantu st. 9, Vilnius, Lithuania</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="Aff84">Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Århus N, Denmark</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="Aff85">Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue Suite 300, Fremont, CA 94538 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff86">Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA USA</nlm:aff></affiliation></author><author><name sortKey="Joseph, Vijai" sort="Joseph, Vijai" uniqKey="Joseph V" first="Vijai" last="Joseph">Vijai Joseph</name><affiliation><nlm:aff id="Aff87">Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044 USA</nlm:aff></affiliation></author><author><name sortKey="Just, Walter" sort="Just, Walter" uniqKey="Just W" first="Walter" last="Just">Walter Just</name><affiliation><nlm:aff id="Aff88">Institute of Human Genetics, University of Ulm, 89091 Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Kaczmarek, Katarzyna" sort="Kaczmarek, Katarzyna" uniqKey="Kaczmarek K" first="Katarzyna" last="Kaczmarek">Katarzyna Kaczmarek</name><affiliation><nlm:aff id="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</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="Aff89">Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA 90048 USA</nlm:aff></affiliation></author><author><name sortKey="Kets, Carolien M" sort="Kets, Carolien M" uniqKey="Kets C" first="Carolien M." last="Kets">Carolien M. Kets</name><affiliation><nlm:aff id="Aff91">Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Kirk, Judy" sort="Kirk, Judy" uniqKey="Kirk J" first="Judy" last="Kirk">Judy Kirk</name><affiliation><nlm:aff id="Aff92">Westmead Hospital, Familial Cancer Service, Hawkebury Road, P.O. Box 533, Wentworthville, NSW 2145 Australia</nlm:aff></affiliation></author><author><name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name><affiliation><nlm:aff id="Aff93">Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, P.O. Box 5201, 3008 AE Rotterdam, The Netherlands</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="Aff53">The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel</nlm:aff></affiliation></author><author><name sortKey="Laurent, Maite" sort="Laurent, Maite" uniqKey="Laurent M" first="Maïté" last="Laurent">Maïté Laurent</name><affiliation><nlm:aff id="Aff27">Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</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="Aff48">Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Leslie, Goska" sort="Leslie, Goska" uniqKey="Leslie G" first="Goska" last="Leslie">Goska Leslie</name><affiliation><nlm:aff id="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff89">Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA 90048 USA</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="Aff94">Genetic Epidemiology of Cancer Team, INSERM U900, Institut Curie Mines ParisTech, PSL University, 26 rue d’Ulm, 75248 Paris Cedex 05, France</nlm:aff></affiliation></author><author><name sortKey="Liljegren, Annelie" sort="Liljegren, Annelie" uniqKey="Liljegren A" first="Annelie" last="Liljegren">Annelie Liljegren</name><affiliation><nlm:aff id="Aff95">Department of Oncology, Karolinska University Hospital, 17176 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Loman, Niklas" sort="Loman, Niklas" uniqKey="Loman N" first="Niklas" last="Loman">Niklas Loman</name><affiliation><nlm:aff id="Aff96">Department of Oncology, Lund University Hospital, 22185 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Loud, Jennifer T" sort="Loud, Jennifer T" uniqKey="Loud J" first="Jennifer T." last="Loud">Jennifer T. Loud</name><affiliation><nlm:aff id="Aff65">Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD USA</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="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Mariani, Milena" sort="Mariani, Milena" uniqKey="Mariani M" first="Milena" last="Mariani">Milena Mariani</name><affiliation><nlm:aff id="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</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="Aff97">Lyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR5292, University of Lyon, Lyon, France</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne E J" sort="Meijers Heijboer, Hanne E J" uniqKey="Meijers Heijboer H" first="Hanne E. J." last="Meijers-Heijboer">Hanne E. J. Meijers-Heijboer</name><affiliation><nlm:aff id="Aff98">Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands</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="Aff12">Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105 Kiel, Germany</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="Aff99">NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263 USA</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="Aff100">Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128 Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="Aff9">Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff101">Department of Laboratory Medicine and the Keenan Research Centre of the Li Ka Shing Knowledge Institute, St Michael’s Hospital, Toronto, ON Canada</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="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</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="Aff37">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA</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="Aff102">Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, Haartmaninkatu 8, HUS, P.O. BOX 700, 00029 Helsinki, Finland</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="Aff103">Department of Medicine and Genetics, University of California, 513 Parnassus Ave., HSE 901E, San Francisco, CA 94143-0794 USA</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="Aff104">Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</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="Aff105">Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC 2115, Chicago, IL USA</nlm:aff></affiliation></author><author><name sortKey="Ong, Kai Ren" sort="Ong, Kai Ren" uniqKey="Ong K" first="Kai-Ren" last="Ong">Kai-Ren Ong</name><affiliation><nlm:aff id="Aff106">West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Oosterwijk, Jan C" sort="Oosterwijk, Jan C" uniqKey="Oosterwijk J" first="Jan C." last="Oosterwijk">Jan C. Oosterwijk</name><affiliation><nlm:aff id="Aff107">Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands</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="Aff17">Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="Aff18">Biomedical Network on Rare Diseases (CIBERER), 28029 Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="Aff108">Unit of Medical Genetics, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Viale Morgagni 50, 50134 Florence, Italy</nlm:aff></affiliation></author><author><name sortKey="Park, Sue Kyung" sort="Park, Sue Kyung" uniqKey="Park S" first="Sue Kyung" last="Park">Sue Kyung Park</name><affiliation><nlm:aff id="Aff109">Department of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799 Korea</nlm:aff></affiliation></author><author><name sortKey="Pedersen, Inge Sokilde" sort="Pedersen, Inge Sokilde" uniqKey="Pedersen I" first="Inge Sokilde" last="Pedersen">Inge Sokilde Pedersen</name><affiliation><nlm:aff id="Aff110">Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Ålborg, Denmark</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="Aff14">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Segura, Pedro Perez" sort="Segura, Pedro Perez" uniqKey="Segura P" first="Pedro Perez" last="Segura">Pedro Perez Segura</name><affiliation><nlm:aff id="Aff111">Department of Oncology, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</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="Aff112">IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO Campus, Via Adamello 16, 20139 Milan, Italy</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="Aff113">Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL 33612 USA</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="Aff114">Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab via GA Amadeo 42, 20133 Milan, Italy</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="Aff115">Department of Clinical Genetics, Karolinska University Hospital, L5:03, 171 76 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Rappaport Fuerhauser, Christine" sort="Rappaport Fuerhauser, Christine" uniqKey="Rappaport Fuerhauser C" first="Christine" last="Rappaport-Fuerhauser">Christine Rappaport-Fuerhauser</name><affiliation><nlm:aff id="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</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="Aff117">Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., 34362 Haifa, Israel</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="Aff118">Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA</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="Aff119">Clinical Genetics, Services Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA</nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Gustavo C" sort="Rodriguez, Gustavo C" uniqKey="Rodriguez G" first="Gustavo C." last="Rodriguez">Gustavo C. Rodriguez</name><affiliation><nlm:aff id="Aff120">Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, 2650 Ridge Avenue, Suite 1507, Walgreens, Evanston, IL 60201 USA</nlm:aff></affiliation></author><author><name sortKey="Rookus, Matti A" sort="Rookus, Matti A" uniqKey="Rookus M" first="Matti A." last="Rookus">Matti A. Rookus</name><affiliation><nlm:aff id="Aff121">Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita Katharina" sort="Schmutzler, Rita Katharina" uniqKey="Schmutzler R" first="Rita Katharina" last="Schmutzler">Rita Katharina Schmutzler</name><affiliation><nlm:aff id="Aff67">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff122">Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, 50931 Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff123">Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Sevenet, Nicolas" sort="Sevenet, Nicolas" uniqKey="Sevenet N" first="Nicolas" last="Sevenet">Nicolas Sevenet</name><affiliation><nlm:aff id="Aff124">Oncogénétique, Institut Bergonié, 229 cours de l’Argonne, 33076 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Shah, Payal D" sort="Shah, Payal D" uniqKey="Shah P" first="Payal D." last="Shah">Payal D. Shah</name><affiliation><nlm:aff id="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</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="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Slavin, Thomas P" sort="Slavin, Thomas P" uniqKey="Slavin T" first="Thomas P." last="Slavin">Thomas P. Slavin</name><affiliation><nlm:aff id="Aff55">Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010 USA</nlm:aff></affiliation></author><author><name sortKey="Snape, Katie" sort="Snape, Katie" uniqKey="Snape K" first="Katie" last="Snape">Katie Snape</name><affiliation><nlm:aff id="Aff125">Medical Genetics Unit, St George’s, University of London, London, SW17 0RE UK</nlm:aff></affiliation></author><author><name sortKey="Sokolowska, Johanna" sort="Sokolowska, Johanna" uniqKey="Sokolowska J" first="Johanna" last="Sokolowska">Johanna Sokolowska</name><affiliation><nlm:aff id="Aff126">Laboratoire de génétique médicale Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan cedex 1, 54511 Vandoeuvre-les-Nancy, France</nlm:aff></affiliation></author><author><name sortKey="S Nderstrup, Ida Marie Heeholm" sort="S Nderstrup, Ida Marie Heeholm" uniqKey="S Nderstrup I" first="Ida Marie Heeholm" last="S Nderstrup">Ida Marie Heeholm S Nderstrup</name><affiliation><nlm:aff id="Aff127">Department of Pathology Region Zealand Section Slagelse, Slagelse Hospital, Ingemannsvej 18 Slagelse, Cpoenhagen, Denmark</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="Aff128">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC 3010 Australia</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="Aff129">Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD 4006 Australia</nlm:aff></affiliation></author><author><name sortKey="Stadler, Zsofia" sort="Stadler, Zsofia" uniqKey="Stadler Z" first="Zsofia" last="Stadler">Zsofia Stadler</name><affiliation><nlm:aff id="Aff130">Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY USA</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="Aff27">Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</nlm:aff></affiliation></author><author><name sortKey="Sukiennicki, Grzegorz" sort="Sukiennicki, Grzegorz" uniqKey="Sukiennicki G" first="Grzegorz" last="Sukiennicki">Grzegorz Sukiennicki</name><affiliation><nlm:aff id="Aff66">Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="Aff131">Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Tan, Yen" sort="Tan, Yen" uniqKey="Tan Y" first="Yen" last="Tan">Yen Tan</name><affiliation><nlm:aff id="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Tea, Muy Kheng" sort="Tea, Muy Kheng" uniqKey="Tea M" first="Muy-Kheng" last="Tea">Muy-Kheng Tea</name><affiliation><nlm:aff id="Aff116">Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</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="Aff132">Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="Aff133">Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal</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="Aff134">Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</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="Aff135">Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, 47500 Subang Jaya, Malaysia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff136">University Malaya Cancer Research Institute, University Malaya, 1 Jalan SS12/1A, 50603 Kuala Lumpur, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary Beth" sort="Terry, Mary Beth" uniqKey="Terry M" first="Mary Beth" last="Terry">Mary Beth Terry</name><affiliation><nlm:aff id="Aff137">Department of Epidemiology, Columbia University, New York, NY USA</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="Aff138">Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark</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="Aff139">Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia</nlm:aff></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation><nlm:aff id="Aff51">Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC Canada</nlm:aff></affiliation><affiliation><nlm:aff id="Aff140">Department of Medical Genetics Level 6 Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Hills Road, Box 134, Cambridge, CB2 0QQ UK</nlm:aff></affiliation></author><author><name sortKey="Tognazzo, Silvia" sort="Tognazzo, Silvia" uniqKey="Tognazzo S" first="Silvia" last="Tognazzo">Silvia Tognazzo</name><affiliation><nlm:aff id="Aff100">Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128 Padua, Italy</nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation><nlm:aff id="Aff141">Division of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH 43210 USA</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="Aff142">Department of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215 USA</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans M W" sort="Van Den Ouweland, Ans M W" uniqKey="Van Den Ouweland A" first="Ans M. W." last="Van Den Ouweland">Ans M. W. Van Den Ouweland</name><affiliation><nlm:aff id="Aff143">Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, 330 Brookline Avenue, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B." last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="Aff144">Department of Medical Genetics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Engelen, Klaartje" sort="Van Engelen, Klaartje" uniqKey="Van Engelen K" first="Klaartje" last="Van Engelen">Klaartje Van Engelen</name><affiliation><nlm:aff id="Aff145">Department of Clinical Genetics, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands</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="Aff40">Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007 South Africa</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="Aff146">Institute of Human Genetics, Charite Berlin, Campus Virchov Klinikum, 13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="Aff67">Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T." last="Wijnen">Juul T. Wijnen</name><affiliation><nlm:aff id="Aff147">Department of Human Genetics & Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy" sort="Rebbeck, Timothy" uniqKey="Rebbeck T" first="Timothy" last="Rebbeck">Timothy Rebbeck</name><affiliation><nlm:aff id="Aff25">Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff148">Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA</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="Aff129">Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD 4006 Australia</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="Aff87">Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044 USA</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="Aff70">Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff149">Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</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="Aff150">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0372 Oslo, Norway</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK</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="Aff1">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC G1V 4G2 Canada</nlm:aff></affiliation></author></analytic><series><title level="j">Breast Cancer Research and Treatment</title><idno type="ISSN">0167-6806</idno><idno type="eISSN">1573-7217</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Purpose</title><p><italic>Cis</italic>-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.</p></sec><sec><title>Methods</title><p>Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 <italic>BRCA1</italic> and 8211 <italic>BRCA2</italic> mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic>.</p></sec><sec><title>Results</title><p>We identified a region on 11q22.3 that is significantly associated with breast cancer risk in <italic>BRCA1</italic> mutation carriers (most significant SNP rs228595 <italic>p</italic> = 7 × 10<sup>−6</sup>). This association was absent in <italic>BRCA2</italic> carriers (<italic>p</italic> = 0.57). The 11q22.3 region notably encompasses genes such as <italic>ACAT1</italic>, <italic>NPAT</italic>, and <italic>ATM</italic>. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for <italic>ACAT1</italic>, <italic>ATM</italic>, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.</p></sec><sec><title>Conclusion</title><p>We identified 11q22.3 as a new modifier locus in <italic>BRCA1</italic> carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1007/s10549-016-4018-2) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Begg, Cb" uniqKey="Begg C">CB Begg</name></author><author><name sortKey="Haile, Rw" uniqKey="Haile R">RW Haile</name></author><author><name sortKey="Borg, A" uniqKey="Borg A">A Borg</name></author><author><name sortKey="Malone, Ke" uniqKey="Malone K">KE Malone</name></author><author><name sortKey="Concannon, P" uniqKey="Concannon P">P Concannon</name></author><author><name sortKey="Thomas, Dc" uniqKey="Thomas D">DC 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article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Breast Cancer Res Treat</journal-id><journal-id journal-id-type="iso-abbrev">Breast Cancer Res. Treat</journal-id><journal-title-group><journal-title>Breast Cancer Research and Treatment</journal-title></journal-title-group><issn pub-type="ppub">0167-6806</issn><issn pub-type="epub">1573-7217</issn><publisher><publisher-name>Springer US</publisher-name><publisher-loc>New York</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27796716</article-id><article-id pub-id-type="pmc">5222911</article-id><article-id pub-id-type="publisher-id">4018</article-id><article-id pub-id-type="doi">10.1007/s10549-016-4018-2</article-id><article-categories><subj-group subj-group-type="heading"><subject>Epidemiology</subject></subj-group></article-categories><title-group><article-title>Association of breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 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BOX 160, 00029 Helsinki, Finland</aff><aff id="Aff8"><label>8</label>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5 Canada</aff><aff id="Aff9"><label>9</label>Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada</aff><aff id="Aff10"><label>10</label>Department of Pathology hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavík, Iceland</aff><aff id="Aff11"><label>11</label>BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101 Reykjavík, Iceland</aff><aff id="Aff12"><label>12</label>Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105 Kiel, Germany</aff><aff id="Aff13"><label>13</label>Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, 1515 Pressler Street CBP 5, Houston, TX 77030 USA</aff><aff id="Aff14"><label>14</label>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy</aff><aff id="Aff15"><label>15</label>Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, 711 Concession Street, Hamilton, ON L8V 1C3 Canada</aff><aff id="Aff16"><label>16</label>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</aff><aff id="Aff17"><label>17</label>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</aff><aff id="Aff18"><label>18</label>Biomedical Network on Rare Diseases (CIBERER), 28029 Madrid, Spain</aff><aff id="Aff19"><label>19</label>Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain</aff><aff id="Aff20"><label>20</label>Centre François Baclesse, 3 avenue Général Harris, 14076 Caen, France</aff><aff id="Aff21"><label>21</label>Department of Clinical Genetics, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands</aff><aff id="Aff22"><label>22</label>City of Hope Clinical Cancer Genomics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010 USA</aff><aff id="Aff23"><label>23</label>Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon, France</aff><aff id="Aff24"><label>24</label>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Via Ripamonti 435, 20141 Milan, Italy</aff><aff id="Aff25"><label>25</label>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA</aff><aff id="Aff26"><label>26</label>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, EX1 2ED UK</aff><aff id="Aff27"><label>27</label>Service de Génétique Oncologique, Institut Curie, 26 rue d’Ulm, 75248 Paris Cedex 05, France</aff><aff id="Aff28"><label>28</label>Department of Medicine, Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT 84112 USA</aff><aff id="Aff29"><label>29</label>Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy</aff><aff id="Aff30"><label>30</label>Unité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Quebec, QC G1S 4L8 Canada</aff><aff id="Aff31"><label>31</label>Departments of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032 USA</aff><aff id="Aff32"><label>32</label>Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Ghent, Belgium</aff><aff id="Aff33"><label>33</label>Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111 USA</aff><aff id="Aff34"><label>34</label>Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, G51 4TF UK</aff><aff id="Aff35"><label>35</label>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</aff><aff id="Aff36"><label>36</label>Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital, Clinical and Molecular Genetics Area, Passeig Vall d’Hebron 119-129, 08035 Barcelona, Spain</aff><aff id="Aff37"><label>37</label>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA</aff><aff id="Aff38"><label>38</label>Cancer Bioimmunotherapy Unit, Department of Medical Oncology, Centro di Riferimento Oncologico, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) National Cancer Institute, Via Franco Gallini 2, 33081 Aviano, PN Italy</aff><aff id="Aff39"><label>39</label>University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD Australia</aff><aff id="Aff40"><label>40</label>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007 South Africa</aff><aff id="Aff41"><label>41</label>Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, UK</aff><aff id="Aff42"><label>42</label>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, SM2 5NG UK</aff><aff id="Aff43"><label>43</label>Department of Oncology, Sahlgrenska University Hospital, 41345 Göteborg, Sweden</aff><aff id="Aff44"><label>44</label>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark</aff><aff id="Aff45"><label>45</label>Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany</aff><aff id="Aff46"><label>46</label>LIFE, Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany</aff><aff id="Aff47"><label>47</label>Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL UK</aff><aff id="Aff48"><label>48</label>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</aff><aff id="Aff49"><label>49</label>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Zluty kopec 7, 65653 Brno, Czech Republic</aff><aff id="Aff50"><label>50</label>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research “Demokritos”, Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi Attikis, Athens, Greece</aff><aff id="Aff51"><label>51</label>Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC Canada</aff><aff id="Aff52"><label>52</label>Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloníki, Greece</aff><aff id="Aff53"><label>53</label>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel</aff><aff id="Aff54"><label>54</label>Sackler Faculty of Medicine, Tel Aviv University, 69978 Ramat Aviv, Israel</aff><aff id="Aff55"><label>55</label>Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010 USA</aff><aff id="Aff56"><label>56</label>UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA 90095-6900 USA</aff><aff id="Aff57"><label>57</label>Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA USA</aff><aff id="Aff58"><label>58</label>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033 USA</aff><aff id="Aff59"><label>59</label>Department of Tumour Biology, Institut Curie, Paris, France</aff><aff id="Aff60"><label>60</label>Institut Curie, INSERM U830, Paris, France</aff><aff id="Aff61"><label>61</label>Université Paris Descartes, Sorbonne Paris Cité, Paris, France</aff><aff id="Aff62"><label>62</label>Department of Clincial Genetics, Rigshospitalet, Blegdamsvej 9, 4062 Copenhagen, Denmark</aff><aff id="Aff63"><label>63</label>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, Kansas City, Kansas USA</aff><aff id="Aff64"><label>64</label>Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132 USA</aff><aff id="Aff65"><label>65</label>Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD USA</aff><aff id="Aff66"><label>66</label>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115 Szczecin, Poland</aff><aff id="Aff67"><label>67</label>Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931 Cologne, Germany</aff><aff id="Aff68"><label>68</label>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany</aff><aff id="Aff69"><label>69</label>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark</aff><aff id="Aff70"><label>70</label>Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</aff><aff id="Aff71"><label>71</label>Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210 USA</aff><aff id="Aff72"><label>72</label>Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University, Columbus, OH 43210 USA</aff><aff id="Aff73"><label>73</label>Comprehensive Cancer Center Arthur C. James Cancer Hospital and Richard J. Solove Research Institute Biomedical Research Tower, Room 588, 460 West 12th Avenue, Columbus, OH 43210 USA</aff><aff id="Aff74"><label>74</label>The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Coordinating Center: Netherlands Cancer Institute, Amsterdam, The Netherlands</aff><aff id="Aff75"><label>75</label>Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands</aff><aff id="Aff76"><label>76</label>Center for Medical Genetics, NorthShore University HealthSystem, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201 USA</aff><aff id="Aff77"><label>77</label>N.N. Petrov Institute of Oncology, St. Petersburg, Russia 197758</aff><aff id="Aff78"><label>78</label>Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC 20007 USA</aff><aff id="Aff79"><label>79</label>Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, SE1 9RT UK</aff><aff id="Aff80"><label>80</label>Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000 Australia</aff><aff id="Aff81"><label>81</label>Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3010 Australia</aff><aff id="Aff82"><label>82</label>Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, 08661 Vilnius, Lithuania</aff><aff id="Aff83"><label>83</label>State Research Institute Centre for Innovative Medicine, Zygymantu st. 9, Vilnius, Lithuania</aff><aff id="Aff84"><label>84</label>Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Århus N, Denmark</aff><aff id="Aff85"><label>85</label>Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue Suite 300, Fremont, CA 94538 USA</aff><aff id="Aff86"><label>86</label>Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA USA</aff><aff id="Aff87"><label>87</label>Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044 USA</aff><aff id="Aff88"><label>88</label>Institute of Human Genetics, University of Ulm, 89091 Ulm, Germany</aff><aff id="Aff89"><label>89</label>Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA 90048 USA</aff><aff id="Aff90"><label>90</label>Research Department, Peter MacCallum Cancer Centre, East Melbourne, Melbourne, VIC 8006 Australia</aff><aff id="Aff91"><label>91</label>Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands</aff><aff id="Aff92"><label>92</label>Westmead Hospital, Familial Cancer Service, Hawkebury Road, P.O. Box 533, Wentworthville, NSW 2145 Australia</aff><aff id="Aff93"><label>93</label>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, P.O. Box 5201, 3008 AE Rotterdam, The Netherlands</aff><aff id="Aff94"><label>94</label>Genetic Epidemiology of Cancer Team, INSERM U900, Institut Curie Mines ParisTech, PSL University, 26 rue d’Ulm, 75248 Paris Cedex 05, France</aff><aff id="Aff95"><label>95</label>Department of Oncology, Karolinska University Hospital, 17176 Stockholm, Sweden</aff><aff id="Aff96"><label>96</label>Department of Oncology, Lund University Hospital, 22185 Lund, Sweden</aff><aff id="Aff97"><label>97</label>Lyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR5292, University of Lyon, Lyon, France</aff><aff id="Aff98"><label>98</label>Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands</aff><aff id="Aff99"><label>99</label>NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263 USA</aff><aff id="Aff100"><label>100</label>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128 Padua, Italy</aff><aff id="Aff101"><label>101</label>Department of Laboratory Medicine and the Keenan Research Centre of the Li Ka Shing Knowledge Institute, St Michael’s Hospital, Toronto, ON Canada</aff><aff id="Aff102"><label>102</label>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, Haartmaninkatu 8, HUS, P.O. BOX 700, 00029 Helsinki, Finland</aff><aff id="Aff103"><label>103</label>Department of Medicine and Genetics, University of California, 513 Parnassus Ave., HSE 901E, San Francisco, CA 94143-0794 USA</aff><aff id="Aff104"><label>104</label>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</aff><aff id="Aff105"><label>105</label>Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC 2115, Chicago, IL USA</aff><aff id="Aff106"><label>106</label>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK</aff><aff id="Aff107"><label>107</label>Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands</aff><aff id="Aff108"><label>108</label>Unit of Medical Genetics, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Viale Morgagni 50, 50134 Florence, Italy</aff><aff id="Aff109"><label>109</label>Department of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799 Korea</aff><aff id="Aff110"><label>110</label>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Ålborg, Denmark</aff><aff id="Aff111"><label>111</label>Department of Oncology, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</aff><aff id="Aff112"><label>112</label>IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO Campus, Via Adamello 16, 20139 Milan, Italy</aff><aff id="Aff113"><label>113</label>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL 33612 USA</aff><aff id="Aff114"><label>114</label>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab via GA Amadeo 42, 20133 Milan, Italy</aff><aff id="Aff115"><label>115</label>Department of Clinical Genetics, Karolinska University Hospital, L5:03, 171 76 Stockholm, Sweden</aff><aff id="Aff116"><label>116</label>Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090 Vienna, Austria</aff><aff id="Aff117"><label>117</label>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., 34362 Haifa, Israel</aff><aff id="Aff118"><label>118</label>Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA</aff><aff id="Aff119"><label>119</label>Clinical Genetics, Services Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA</aff><aff id="Aff120"><label>120</label>Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, 2650 Ridge Avenue, Suite 1507, Walgreens, Evanston, IL 60201 USA</aff><aff id="Aff121"><label>121</label>Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The Netherlands</aff><aff id="Aff122"><label>122</label>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, 50931 Cologne, Germany</aff><aff id="Aff123"><label>123</label>Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany</aff><aff id="Aff124"><label>124</label>Oncogénétique, Institut Bergonié, 229 cours de l’Argonne, 33076 Bordeaux, France</aff><aff id="Aff125"><label>125</label>Medical Genetics Unit, St George’s, University of London, London, SW17 0RE UK</aff><aff id="Aff126"><label>126</label>Laboratoire de génétique médicale Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan cedex 1, 54511 Vandoeuvre-les-Nancy, France</aff><aff id="Aff127"><label>127</label>Department of Pathology Region Zealand Section Slagelse, Slagelse Hospital, Ingemannsvej 18 Slagelse, Cpoenhagen, Denmark</aff><aff id="Aff128"><label>128</label>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC 3010 Australia</aff><aff id="Aff129"><label>129</label>Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD 4006 Australia</aff><aff id="Aff130"><label>130</label>Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY USA</aff><aff id="Aff131"><label>131</label>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</aff><aff id="Aff132"><label>132</label>Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal</aff><aff id="Aff133"><label>133</label>Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal</aff><aff id="Aff134"><label>134</label>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l’Hospitalet, 199-203, L’Hospitalet, 08908 Barcelona, Spain</aff><aff id="Aff135"><label>135</label>Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, 47500 Subang Jaya, Malaysia</aff><aff id="Aff136"><label>136</label>University Malaya Cancer Research Institute, University Malaya, 1 Jalan SS12/1A, 50603 Kuala Lumpur, Malaysia</aff><aff id="Aff137"><label>137</label>Department of Epidemiology, Columbia University, New York, NY USA</aff><aff id="Aff138"><label>138</label>Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark</aff><aff id="Aff139"><label>139</label>Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia</aff><aff id="Aff140"><label>140</label>Department of Medical Genetics Level 6 Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Hills Road, Box 134, Cambridge, CB2 0QQ UK</aff><aff id="Aff141"><label>141</label>Division of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH 43210 USA</aff><aff id="Aff142"><label>142</label>Department of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215 USA</aff><aff id="Aff143"><label>143</label>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, 330 Brookline Avenue, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands</aff><aff id="Aff144"><label>144</label>Department of Medical Genetics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands</aff><aff id="Aff145"><label>145</label>Department of Clinical Genetics, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands</aff><aff id="Aff146"><label>146</label>Institute of Human Genetics, Charite Berlin, Campus Virchov Klinikum, 13353 Berlin, Germany</aff><aff id="Aff147"><label>147</label>Department of Human Genetics & Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands</aff><aff id="Aff148"><label>148</label>Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA</aff><aff id="Aff149"><label>149</label>Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA</aff><aff id="Aff150"><label>150</label>Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0372 Oslo, Norway</aff></contrib-group><pub-date pub-type="epub"><day>28</day><month>10</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>28</day><month>10</month><year>2016</year></pub-date><pub-date pub-type="ppub"><year>2017</year></pub-date><volume>161</volume><issue>1</issue><fpage>117</fpage><lpage>134</lpage><history><date date-type="received"><day>5</day><month>10</month><year>2016</year></date><date date-type="accepted"><day>8</day><month>10</month><year>2016</year></date></history><permissions><copyright-statement>© The Author(s) 2016</copyright-statement><license license-type="OpenAccess"><license-p><bold>Open Access</bold>This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.</license-p></license></permissions><abstract id="Abs1"><sec><title>Purpose</title><p><italic>Cis</italic>-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.</p></sec><sec><title>Methods</title><p>Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 <italic>BRCA1</italic> and 8211 <italic>BRCA2</italic> mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic>.</p></sec><sec><title>Results</title><p>We identified a region on 11q22.3 that is significantly associated with breast cancer risk in <italic>BRCA1</italic> mutation carriers (most significant SNP rs228595 <italic>p</italic> = 7 × 10<sup>−6</sup>). This association was absent in <italic>BRCA2</italic> carriers (<italic>p</italic> = 0.57). The 11q22.3 region notably encompasses genes such as <italic>ACAT1</italic>, <italic>NPAT</italic>, and <italic>ATM</italic>. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for <italic>ACAT1</italic>, <italic>ATM</italic>, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.</p></sec><sec><title>Conclusion</title><p>We identified 11q22.3 as a new modifier locus in <italic>BRCA1</italic> carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1007/s10549-016-4018-2) contains supplementary material, which is available to authorized users.</p></sec></abstract><kwd-group xml:lang="en"><title>Keywords</title><kwd>Breast cancer</kwd><kwd>Genetic modifiers</kwd><kwd>Differential allelic expression</kwd><kwd>Genetic susceptibility</kwd><kwd><italic>Cis</italic>-regulatory variants</kwd><kwd><italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</kwd></kwd-group><funding-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/501100000024</institution-id><institution>Canadian Institutes of Health Research</institution></institution-wrap></funding-source><award-id>CRN-87521</award-id><principal-award-recipient><name><surname>Simard</surname><given-names>Jacques</given-names></name></principal-award-recipient></award-group><award-group><funding-source><institution>Ministry of Economic Development, Innovation and Export Trade</institution></funding-source><award-id>PSR-SIIRI-701</award-id><principal-award-recipient><name><surname>Simard</surname><given-names>Jacques</given-names></name></principal-award-recipient></award-group><award-group><funding-source><institution>Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH-129344), the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec, and the Quebec Breast Cancer Foundation</institution></funding-source><award-id>GPH-129344</award-id><principal-award-recipient><name><surname>Simard</surname><given-names>Jacques</given-names></name></principal-award-recipient></award-group></funding-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© Springer Science+Business Media New York 2017</meta-value></custom-meta></custom-meta-group></article-meta></front><body><sec id="Sec1" sec-type="introduction"><title>Introduction</title><p>Pathogenic mutations in the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes substantially increase a woman’s lifetime risk of developing breast and ovarian cancers [<xref ref-type="bibr" rid="CR1">1</xref>–<xref ref-type="bibr" rid="CR4">4</xref>]. These risks vary significantly according to (a) age at disease diagnosis in carriers of identical mutations, (b) the cancer site in the individual who led to the family’s ascertainment, (c) the degree of family history of the disease [<xref ref-type="bibr" rid="CR1">1</xref>, <xref ref-type="bibr" rid="CR4">4</xref>, <xref ref-type="bibr" rid="CR5">5</xref>], and (d) the type and location of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutations [<xref ref-type="bibr" rid="CR6">6</xref>]. These observations suggest that other factors, including lifestyle/hormonal factors [<xref ref-type="bibr" rid="CR7">7</xref>] as well as other genetic factors, modify cancer risks in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Direct evidence for such genetic modifiers of risk has been obtained through the association studies performed by the Consortium of Investigators of Modifiers of <italic>BRCA1</italic>/<italic>2</italic> (CIMBA), which have shown that several common breast cancer susceptibility alleles identified through population-based genome-wide association studies (GWASs) are also associated with breast cancer risk among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers [<xref ref-type="bibr" rid="CR8">8</xref>–<xref ref-type="bibr" rid="CR10">10</xref>].</p><p>Global analysis of GWAS data has shown that the vast majority of common variants associated with susceptibility to cancer lie within genomic non-coding regions and are predicted to account for cancer risk through regulation of gene expression [<xref ref-type="bibr" rid="CR11">11</xref>, <xref ref-type="bibr" rid="CR12">12</xref>]. A recent expression quantitative trait loci (<italic>cis</italic>-eQTL) analysis for mRNA expression in 149 known cancer risk loci performed in five tumor types (breast, colon, kidney, lung, and prostate) has shown that approximately 30 % of such risk loci were significantly associated with eQTLs present in at least one gene within 500 kb [<xref ref-type="bibr" rid="CR13">13</xref>]. These results suggest that additional cancer susceptibility loci may be identified through studying genetic variants that affect the regulation of gene expression. In the present study, we selected genes of interest for their known involvement in cancer etiology, identified 320 genetic variants in the vicinity of these genes with evidence of differential allelic expression (DAE), and then investigated the associations of these variants with breast and ovarian cancer risks among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. These included variants in genes involved in DNA repair (homologous recombination and DNA interstrand crosslink repair), interaction with and/or modulation of BRCA1 and BRCA2 cellular functions, cell cycle control, centrosome amplification and interaction with AURKA, apoptosis, ubiquitination, as well as known tumor suppressors, mitotic kinases, and other kinases, sex steroid action, and mammographic density.</p></sec><sec id="Sec2" sec-type="materials|methods"><title>Materials and methods</title><sec id="Sec3"><title>Subjects</title><p>All study participants were female carriers of a deleterious germline mutation in either <italic>BRCA1</italic> or <italic>BRCA2</italic> and aged 18 years or older [<xref ref-type="bibr" rid="CR14">14</xref>]. Fifty-four collaborating CIMBA studies contributed a total of 23,463 samples (15,252 <italic>BRCA1</italic> mutation carriers and 8211 <italic>BRCA2</italic> mutation carriers) to this study, including 12,127 with breast cancer (7797 <italic>BRCA1</italic> and 4330 <italic>BRCA2</italic> carriers) and 3093 with ovarian cancer (2462 <italic>BRCA1</italic> and 631 <italic>BRCA2</italic> carriers). The number of samples included from each study is provided in Online Resource 1. The recruitment strategies, clinical, demographic, and phenotypic data collected from each participant have been previously reported [<xref ref-type="bibr" rid="CR14">14</xref>].</p></sec><sec id="Sec4"><title>Ethics statement</title><p><italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers were recruited through the CIMBA initiative, following approval of the corresponding protocol by the Institutional Review Board or Ethics Committee at each participating center (Online Resource 2); written informed consent was obtained from all study participants [<xref ref-type="bibr" rid="CR8">8</xref>, <xref ref-type="bibr" rid="CR9">9</xref>].</p></sec><sec id="Sec5"><title>SNP selection and differential allelic expression</title><p>SNP selection was performed by first identifying a list of 175 genes of interest involved in cancer-related pathways and/or mechanisms. The list of genes was established by analyzing published results and by using available public databases such as the Kyoto encyclopedia of genes and genomes (<ext-link ext-link-type="uri" xlink:href="http://www.genome.jp/kegg/">http://www.genome.jp/kegg/</ext-link>). Next, DAE SNPs located within these gene regions were identified using previously reported data on allelic expression <italic>cis</italic>-associations, derived using (1) the lllumina Human1M-duo BeadChip for lymphoblastoid cell lines from Caucasians (CEU population) (<italic>n</italic> = 53) [<xref ref-type="bibr" rid="CR15">15</xref>], the Illumina Human 1M Omni-quad for primary skin fibroblasts derived from Caucasian donors (<italic>n</italic> = 62) [<xref ref-type="bibr" rid="CR13">13</xref>, <xref ref-type="bibr" rid="CR16">16</xref>], and the Illumina Infinium II assay with Human 1.2M Duo custom BeadChip v1 for human primary monocytes (<italic>n</italic> = 188) [<xref ref-type="bibr" rid="CR17">17</xref>]. Briefly, 1000 Genomes project data were used as a reference set (release 1000G Phase I v3) for the imputation of genotypes from HapMap individuals. Genotypes were inferred using algorithms implemented in IMPUTE2 [<xref ref-type="bibr" rid="CR18">18</xref>]. The unrelated fibroblast panel consisted of 31 parent–offspring trios, in which the genotypes of offspring were used to permit accurate phasing. Mapping of each allelic expression trait was carried out by first normalizing allelic expression ratios at each SNP using a polynomial method [<xref ref-type="bibr" rid="CR19">19</xref>] and then calculating average phased allelic expression scores across annotated transcripts, followed by correlation of these scores to local (transcript ± 500 kb) SNP genotypes in fibroblasts as described earlier [<xref ref-type="bibr" rid="CR16">16</xref>]. A total of 355 genetic variants were selected on the basis of evidence of association with DAE in the selected 175 genes (see Online Resource 3 for a complete list of SNPs and genes). Following the selection process, SNPs were submitted for design and inclusion on a custom-made Illumina Infinium array (iCOGS) as previously described [<xref ref-type="bibr" rid="CR8">8</xref>, <xref ref-type="bibr" rid="CR9">9</xref>]. Following probe design and post-genotyping quality control, 316 and 317 SNPs were available for association analysis in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, respectively. Genotyping and quality control procedures have been described in detail elsewhere [<xref ref-type="bibr" rid="CR8">8</xref>, <xref ref-type="bibr" rid="CR9">9</xref>].</p></sec><sec id="Sec6"><title>Statistical analysis</title><p>Associations between genotypes and breast and ovarian cancer risks were evaluated within a survival analysis framework, using a one degree-of-freedom score test statistic based on modeling the retrospective likelihood of the observed genotypes conditional on the disease phenotypes [<xref ref-type="bibr" rid="CR20">20</xref>, <xref ref-type="bibr" rid="CR21">21</xref>]. To estimate the magnitude of the associations [hazard ratios (HRs)], we maximized the retrospective likelihood, which was parameterized in terms of the per-allele HR. All analyses were stratified by country of residence and using calendar year and cohort-specific incidence rates of breast and ovarian cancers for mutation carriers. Given 320 tests, the cutoff value for significance after a Bonferroni adjustment for multiple testing was <italic>p</italic> < 1.5 × 10<sup>−4</sup>.</p><p>The associations between the genotypes and tumor subtypes were evaluated using an extension of the retrospective likelihood approach that models the association with two or more subtypes simultaneously [<xref ref-type="bibr" rid="CR22">22</xref>].</p><p>Imputation was performed separately for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers to estimate genotypes for other common variants across a ±50-kb region centered around the 12 most strongly associated SNPs (following the NCBI Build 37 assembly), using the March 2012 release of the 1000 Genomes Project as the reference panel and the IMPUTE v.2.2 software [<xref ref-type="bibr" rid="CR18">18</xref>]. In all analyses, only SNPs with an imputation accuracy coefficient <italic>r</italic><sup>2</sup> >0.30 were considered [<xref ref-type="bibr" rid="CR8">8</xref>, <xref ref-type="bibr" rid="CR9">9</xref>].</p></sec><sec id="Sec7"><title>Functional annotation</title><p>Publicly available genomic data were used to annotate the SNPs most strongly associated with breast cancer risk at locus 11q22.3. The following regulatory features were obtained for breast cell types from ENCODE and NIH Roadmap Epigenomics data through the UCSC Genome Browser: DNase I hypersensitivity sites, chromatin hidden Markov modeling (ChromHMM) states, and histone modifications of epigenetic markers, more specifically commonly used marks associated with enhancers (H3K4Me1 and H3K27Ac) and promoters (H3K4Me3 and H3K9Ac). To identify putative target genes, we examined potential functional chromatin interactions between distal and proximal regulatory transcription factor-binding sites and the promoters at the risk loci, using the chromatin interaction analysis by paired end tag (ChiA-PET) and genome conformation capture (Hi-C, 3C, and 5C) datasets downloaded from GEO and from 4D-genome [<xref ref-type="bibr" rid="CR23">23</xref>]. Maps of active mammary super-enhancer regions in human mammary epithelial cells (HMECs) were obtained from Hnisz et al. [<xref ref-type="bibr" rid="CR24">24</xref>]. Enhancer–promoter specific interactions were predicted from the integrated method for predicting enhancer targets (IM-PETs) [<xref ref-type="bibr" rid="CR25">25</xref>]. RNA-Seq data from ENCODE was used to evaluate the expression of exons across the 11q22.3 locus in MCF7 and HMEC cell lines. For MCF7 and HMEC, alignment files from 19 and 4 expression datasets, respectively, were downloaded from ENCODE using a rest API wrapper (ENCODExplorer R package) [<xref ref-type="bibr" rid="CR26">26</xref>] in the bam format and processed using metagene R packages [<xref ref-type="bibr" rid="CR27">27</xref>] to normalize in Reads per Millions aligned and to convert into coverages.</p></sec><sec id="Sec8"><title>eQTL analyses</title><p>The influence of germline genetic variations on gene expression was assessed using a linear regression model, as implemented in the R library eMAP (<ext-link ext-link-type="uri" xlink:href="http://www.bios.unc.edu/%7eweisun/software.htm">http://www.bios.unc.edu/~weisun/software.htm</ext-link>). An additive effect was inferred by modeling subjects’ copy number of the rare allele, i.e., 0, 1, or 2 for a given genotype. Only relationships in <italic>cis</italic> (defined as those for which the SNP is located at <1 Mb upstream or downstream from the center of the transcript) were investigated. The eQTL analyses were performed on both normal and tumor breast tissues (see Online Resource 4 for the list and description of datasets, as well as the sources of genotype and expression data). For all sample sets, the genotyping data were processed as follows: SNPs with call rates <0.95 or minor allele frequencies, MAFs (<0.05) were excluded, as were SNPs out of Hardy–Weinberg equilibrium with <italic>P</italic> < 10<sup>−13</sup>. All samples with a call rate <80 % were excluded. Identity by state was computed using the R GenABEL package [<xref ref-type="bibr" rid="CR28">28</xref>], and samples from closely related individuals whose identity by state was lower than 0.95 were removed. The SNP and sample filtration criteria were applied iteratively until all samples and SNPs met the set thresholds.</p></sec></sec><sec id="Sec9" sec-type="results"><title>Results</title><p>From the 175 genes selected for their involvement in cancer-related pathways and/or mechanisms, we identified a set of 355 genetic variants showing evidence of association with DAE (see Online Resource 3 for the complete list of genes and SNPs). Of those, 39 and 38 SNPs were excluded because of low Illumina design scores, low call rates, and/or evidence of deviation from Hardy–Weinberg equilibrium (<italic>P</italic> value <10<sup>−7</sup>), for <italic>BRCA1</italic> and <italic>BRCA2</italic> analyses, respectively. A total of 316 and 317 SNPs (representing 227 independent SNPs with a pairwise <italic>r</italic><sup>2</sup> <0.1) were successfully genotyped in 15,252 <italic>BRCA1</italic> and 8211 <italic>BRCA2</italic> mutation carriers, respectively. Association results for breast and ovarian cancer risks for all SNPs are presented in Online Resource 5.</p><sec id="Sec10"><title>Breast cancer association analysis</title><p>Evidence of association with breast cancer risk (at <italic>p</italic> < 10<sup>−2</sup>) was observed for nine SNPs in <italic>BRCA1</italic> mutation carriers and three SNPs in <italic>BRCA2</italic> mutation carriers (Table <xref rid="Tab1" ref-type="table">1</xref>). The strongest association with breast cancer risk among <italic>BRCA1</italic> carriers was observed for rs6589007, located at 11q22.3 in intron 15 of the <italic>NPAT</italic> gene (<italic>p</italic> = 4.6 × 10<sup>−3</sup>) at approximately 54 kb upstream of the <italic>ATM</italic> gene. Similar associations were observed for two other highly correlated variants (<italic>r</italic><sup>2</sup> >0.8) on chromosome 11, namely rs183459 (<italic>p</italic> = 5.7 × 10<sup>−3</sup>) also located within <italic>NPAT</italic> and rs228592 (<italic>p</italic> = 5.5 × 10<sup>−3</sup>) located in intron 11 of <italic>ATM</italic>. No association was observed between SNPs at this locus and breast cancer risk for <italic>BRCA2</italic> carriers (Online Resource 5).<table-wrap id="Tab1"><label>Table 1</label><caption><p>Associations with breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers for SNPs observed at <italic>p</italic> < 10<sup>−2</sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left">Locations</th><th align="left">Positions</th><th align="left">SNPs</th><th align="left">Nearest genes</th><th align="left">Unaffected (number)</th><th align="left">Affected (number)</th><th align="left">Unaffected (MAF)</th><th align="left">Affected (MAF)</th><th align="left">HR* (95 % CI)</th><th align="left"><italic>p</italic> values</th></tr></thead><tbody><tr><td align="left" colspan="10"><italic>BRCA1</italic> mutation carriers</td></tr><tr><td align="left"> 1q42.13</td><td char="." align="char">227,308,416</td><td align="left">rs11806633</td><td align="left"><italic>CDC42BPA</italic></td><td char="." align="char">7455</td><td char="." align="char">7797</td><td char="." align="char">0.07</td><td char="." align="char">0.06</td><td char="(" align="char">1.128 (1.039–1.225)</td><td char="×" align="char">4.8 × 10<sup>−3</sup></td></tr><tr><td align="left"> 2p23.2</td><td char="." align="char">28,319,320</td><td align="left">rs6721310</td><td align="left"><italic>BRE</italic></td><td char="." align="char">7454</td><td char="." align="char">7793</td><td char="." align="char">0.33</td><td char="." align="char">0.33</td><td char="(" align="char">1.064 (1.018–1.111)</td><td char="×" align="char">5.4 × 10<sup>−3</sup></td></tr><tr><td align="left"> 2q11.2</td><td char="." align="char">100,019,496</td><td align="left">rs2305354</td><td align="left"><italic>REV1</italic></td><td char="." align="char">7451</td><td char="." align="char">7796</td><td char="." align="char">0.44</td><td char="." align="char">0.45</td><td char="(" align="char">1.057 (1.015–1.100)</td><td char="×" align="char">7.1 × 10<sup>−3</sup></td></tr><tr><td align="left"> 4p15.33</td><td char="." align="char">14,858,341</td><td align="left">rs1389999</td><td align="left"><italic>CEBP</italic></td><td char="." align="char">7454</td><td char="." align="char">7795</td><td char="." align="char">0.35</td><td char="." align="char">0.35</td><td char="(" align="char">0.940 (0.901–0.982)</td><td char="×" align="char">5.3 × 10<sup>−3</sup></td></tr><tr><td align="left"> 5q14.1</td><td char="." align="char">79,901,952</td><td align="left">rs425463</td><td align="left"><italic>DHFR</italic>, <italic>MSH3</italic></td><td char="." align="char">7430</td><td char="." align="char">7755</td><td char="." align="char">0.33</td><td char="." align="char">0.35</td><td char="(" align="char">1.058 (1.013–1.105)</td><td char="×" align="char">9.5 × 10<sup>−3</sup></td></tr><tr><td align="left"> 11q22.3</td><td char="." align="char">108,040,104</td><td align="left">rs6589007</td><td align="left"><italic>NPAT</italic>, <italic>ACAT1</italic>, <italic>ATM</italic></td><td char="." align="char">7451</td><td char="." align="char">7797</td><td char="." align="char">0.41</td><td char="." align="char">0.42</td><td char="(" align="char">1.062 (1.019–1.107)</td><td char="×" align="char">4.6 × 10<sup>−3</sup></td></tr><tr><td align="left"> 11q22.3</td><td char="." align="char">108,089,197</td><td align="left">rs183459</td><td align="left"><italic>NPAT</italic>, <italic>ATM</italic></td><td char="." align="char">7447</td><td char="." align="char">7789</td><td char="." align="char">0.40</td><td char="." align="char">0.41</td><td char="(" align="char">1.061 (1.018–1.105)</td><td char="×" align="char">5.7 × 10<sup>−3</sup></td></tr><tr><td align="left"> 11q22.3</td><td char="." align="char">108,123,189</td><td align="left">rs228592</td><td align="left"><italic>ATM</italic></td><td char="." align="char">7449</td><td char="." align="char">7792</td><td char="." align="char">0.42</td><td char="." align="char">0.41</td><td char="(" align="char">1.061 (1.018–1.106)</td><td char="×" align="char">5.5 × 10<sup>−3</sup></td></tr><tr><td align="left"> 12p13.33</td><td char="." align="char">986,004</td><td align="left">rs7967755</td><td align="left"><italic>WNK1</italic>, <italic>RAD52</italic></td><td char="." align="char">7454</td><td char="." align="char">7797</td><td char="." align="char">0.16</td><td char="." align="char">0.152</td><td char="(" align="char">0.927 (0.876–0.980)</td><td char="×" align="char">7.5 × 10<sup>−3</sup></td></tr><tr><td align="left" colspan="10"><italic>BRCA2</italic> mutation carriers</td></tr><tr><td align="left"> 6p22.1</td><td char="." align="char">28,231,243</td><td align="left">rs9468322</td><td align="left"><italic>NKAPL</italic></td><td char="." align="char">3880</td><td char="." align="char">4329</td><td char="." align="char">0.04</td><td char="." align="char">0.05</td><td char="(" align="char">1.235 (1.080–1.412)</td><td char="×" align="char">4.2 × 10<sup>−3</sup></td></tr><tr><td align="left"> 8q11.21</td><td char="." align="char">48,708,742</td><td align="left">rs6982040</td><td align="left"><italic>PRKDC</italic></td><td char="." align="char">3876</td><td char="." align="char">4327</td><td char="." align="char">0.006</td><td char="." align="char">0.002</td><td char="(" align="char">0.497 (0.292–0.843)</td><td char="×" align="char">2.7 × 10<sup>−3</sup></td></tr><tr><td align="left"> 16p13.3</td><td char="." align="char">1,371,154</td><td align="left">rs2268049</td><td align="left"><italic>UBE2I</italic></td><td char="." align="char">3880</td><td char="." align="char">4325</td><td char="." align="char">0.14</td><td char="." align="char">0.16</td><td char="(" align="char">1.116 (1.031–1.207)</td><td char="×" align="char">4.5 × 10<sup>−3</sup></td></tr></tbody></table><table-wrap-foot><p><italic>CI</italic> confidence interval, <italic>HR</italic> hazard ratio, <italic>MAF</italic> minor allele frequency, <italic>SNP</italic> single-nucleotide polymorphism</p><p>* Hazard ratio per allele (one degree of freedom) estimated from the retrospective likelihood analysis</p></table-wrap-foot></table-wrap></p><p>The strongest evidence of association with breast cancer risk in <italic>BRCA2</italic> mutation carriers was observed for rs6982040, located at 8q11.21 in intron 74 of the <italic>PRKDC</italic> gene (<italic>p</italic> = 2.7 × 10<sup>−3</sup>). However, this variant had a very low frequency in affected and unaffected individuals (MAF values of 0.002 and 0.006, respectively). No association was observed for this locus in <italic>BRCA1</italic> carriers (Online Resource 5).</p><p>Of the nine SNPs associated with breast cancer risk in <italic>BRCA1</italic> mutation carriers, three were primarily associated with estrogen receptor (ER)-negative breast cancer: rs11806633 at 1q42.13 in the <italic>CDC42BPA</italic> gene (<italic>p</italic> = 9.0 × 10<sup>−3</sup>), rs6721310 at 2p23.2 in the <italic>BRE</italic> gene (<italic>p</italic> = 3.0 × 10<sup>−3</sup>), and rs2305354 at 2q11.2 in the <italic>REV1</italic> gene (<italic>p</italic> = 1.0 × 10<sup>−3</sup>), although the differences between ER-positive and ER-negative disease associations were not statistically significant (Table <xref rid="Tab2" ref-type="table">2</xref>). Of the three <italic>BRCA2</italic>-associated loci, only rs9468322 at 6p22.1 was associated with ER-positive disease (<italic>p</italic> = 5.0 × 10<sup>−4</sup>), although the differences in HRs between ER-positive and ER-negative tumors were not statistically significant (Table <xref rid="Tab2" ref-type="table">2</xref>).<table-wrap id="Tab2"><label>Table 2</label><caption><p>Associations with breast cancer risk by tumor subtype in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="2">Locations</th><th align="left" rowspan="2">Positions</th><th align="left" rowspan="2">SNPs</th><th align="left" colspan="2">ER-positive</th><th align="left" colspan="2">ER-negative</th><th align="left">ER-diff</th></tr><tr><th align="left">HR (95 % CI)</th><th align="left"><italic>p</italic> values</th><th align="left">HR (95 % CI)</th><th align="left"><italic>p</italic> values</th><th align="left"><italic>p</italic>-diff</th></tr></thead><tbody><tr><td align="left" colspan="8"><italic>BRCA1</italic> mutation carriers</td></tr><tr><td align="left"> 1q42.13</td><td char="." align="char">227,308,416</td><td align="left">rs11806633</td><td align="left">1.10 (0.90–1.33)</td><td align="left">0.35</td><td align="left">1.14 (1.03–1.25)</td><td align="left">9.0 × 10<sup>−3</sup></td><td align="left">0.73</td></tr><tr><td align="left"> 2p23.2</td><td char="." align="char">28,319,320</td><td align="left">rs6721310</td><td align="left">1.00 (0.88–1.09)</td><td align="left">0.96</td><td align="left">1.08 (1.04–1.15)</td><td align="left">3.0 × 10<sup>−3</sup></td><td align="left">0.20</td></tr><tr><td align="left"> 2q11.2</td><td char="." align="char">100,019,496</td><td align="left">rs2305354</td><td align="left">0.98 (0.91–1.10)</td><td align="left">0.71</td><td align="left">1.09 (1.03–1.13)</td><td align="left">1.0 × 10<sup>−3</sup></td><td align="left">0.09</td></tr><tr><td align="left"> 4p15.33</td><td char="." align="char">14,858,341</td><td align="left">rs1389999</td><td align="left">0.94 (0.85–1.04)</td><td align="left">0.20</td><td align="left">0.94 (0.89–0.99)</td><td align="left">2.0 × 10<sup>−2</sup></td><td align="left">0.95</td></tr><tr><td align="left"> 5q14.1</td><td char="." align="char">79,901,952</td><td align="left">rs425463</td><td align="left">1.04 (0.94–1.15)</td><td align="left">0.48</td><td align="left">1.07 (1.01–1.12)</td><td align="left">1.6 × 10<sup>−2</sup></td><td align="left">0.67</td></tr><tr><td align="left"> 11q22.3</td><td char="." align="char">108,040,104</td><td align="left">rs6589007</td><td align="left">1.08 (0.99–1.19)</td><td align="left">9.8 × 10<sup>−2</sup></td><td align="left">1.06 (1.01–1.11)</td><td align="left">2.0 × 10<sup>−2</sup></td><td align="left">0.66</td></tr><tr><td align="left"> 11q22.3</td><td char="." align="char">108,089,197</td><td align="left">rs183459</td><td align="left">1.08 (0.99–1.19)</td><td align="left">9.3 × 10<sup>−2</sup></td><td align="left">1.05 (1.00–1.11)</td><td align="left">3.7 × 10<sup>−2</sup></td><td align="left">0.62</td></tr><tr><td align="left"> 11q22.3</td><td char="." align="char">108,123,189</td><td align="left">rs228592</td><td align="left">1.08 (0.96–1.19)</td><td align="left">9.7 × 10<sup>−2</sup></td><td align="left">1.06 (1.00–1.11)</td><td align="left">3.4 × 10<sup>−2</sup></td><td align="left">0.64</td></tr><tr><td align="left"> 12p13.33</td><td char="." align="char">986,004</td><td align="left">rs7967755</td><td align="left">0.96 (0.84–1.09)</td><td align="left">0.54</td><td align="left">0.92 (0.86–0.98)</td><td align="left">1.0 × 10<sup>−2</sup></td><td align="left">0.56</td></tr><tr><td align="left" colspan="8"><italic>BRCA2</italic> mutation carriers</td></tr><tr><td align="left"> 6p22.1</td><td char="." align="char">28,231,243</td><td align="left">rs9468322</td><td align="left">1.30 (1.12–1.51)</td><td align="left">5.0 × 10<sup>−4</sup></td><td align="left">1.00 (0.72–1.40)</td><td align="left">0.99</td><td align="left">0.17</td></tr><tr><td align="left"> 8q11.21</td><td char="." align="char">48,708,742</td><td align="left">rs6982040</td><td align="left">N/A</td><td align="left">N/A</td><td align="left">N/A</td><td align="left">N/A</td><td align="left">N/A</td></tr><tr><td align="left"> 16p13.3</td><td char="." align="char">1,371,154</td><td align="left">rs2268049</td><td align="left">1.10 (1.01–1.21)</td><td align="left">4.0 × 10<sup>−2</sup></td><td align="left">1.17 (0.98–1.39)</td><td align="left">8.0 × 10<sup>−2</sup></td><td align="left">0.56</td></tr></tbody></table><table-wrap-foot><p><italic>CI</italic> confidence interval, <italic>HR</italic> hazard ratio, <italic>SNP</italic> single-nucleotide polymorphism, <italic>N</italic>/<italic>A</italic> not available</p><p>* Hazard ratio per allele (one degree of freedom) estimated from the retrospective likelihood analysis</p></table-wrap-foot></table-wrap></p><p>Although evidence of association with breast cancer risk was observed for the above-described loci in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, none of these associations reached significance after a Bonferroni adjustment for multiple testing. Imputation using the 1000 Genomes data (encompassing ± 50 kb centered on each of the 12 associated variants, Online Resource 6) identified several SNPs with significant associations in <italic>BRCA1</italic> mutation carriers at the 11q22.3 locus (with SNP rs228595 as the most significant, <italic>p</italic> = 7.38 × 10<sup>−6</sup>), and which were partly correlated with the genotyped SNPs (<italic>r</italic><sup>2</sup> <0.4, Fig. <xref rid="Fig1" ref-type="fig">1</xref>). After imputation, we also found associations (albeit not statistically significant after multiple testing adjustments), between one imputed SNP at locus 12p13 (rs2255390, <italic>p</italic> = 5.0 × 10<sup>−4</sup>) and breast cancer risk for <italic>BRCA1</italic> carriers, and two SNPs and breast cancer risk for <italic>BRCA2</italic> carriers, namely 6p22 (chr6:28226644:I, <italic>p</italic> = 9.0 × 10<sup>−4</sup>) and 8q11 (rs189286892, <italic>p</italic> = 2.0 × 10<sup>−4</sup>).<fig id="Fig1"><label>Fig. 1</label><caption><p>Manhattan plot depicting the strength of association between breast cancer risk in <italic>BRCA1</italic> mutation carriers and all imputed and genotyped SNPs located across the 11q22.3 locus bound by hg19 coordinates chr11:107990104_108173189. Directly genotyped SNPs are represented as <italic>triangles</italic> and imputed SNPs (<italic>r</italic><sup>2</sup> > 0.3, MAF > 0.02) are represented as <italic>circles</italic>. The linkage disequilibrium (<italic>r</italic><sup>2</sup>) for the most strongly associated genotyped SNP with each SNP was computed based on subjects of European ancestry that were included in the 1000 Genome Mar 2012 EUR release. Pairwise <italic>r</italic><sup>2</sup> values are plotted using a <italic>red</italic> scale, where <italic>white</italic> and <italic>red</italic> means <italic>r</italic><sup>2</sup> = 0 and 1, respectively. SNPs are plotted according to their chromosomal position: physical locations are based on the GRCh37/hg19 map. SNP rs228606 was genotyped in the iCOGS array but was not included in our original hypothesis of association with DAE. Gene annotation is based on the NCBI RefSeq gene descriptors from the UCSC genome browser</p></caption><graphic xlink:href="10549_2016_4018_Fig1_HTML" id="MO1"></graphic></fig></p></sec><sec id="Sec11"><title>Ovarian cancer association analyses</title><p>Evidence of association with ovarian cancer risk (<italic>p</italic> < 10<sup>−2</sup>) was observed for six SNPs in <italic>BRCA1</italic> mutation carriers and three SNPs in <italic>BRCA2</italic> mutation carriers (Table <xref rid="Tab3" ref-type="table">3</xref>). The strongest association with ovarian cancer risk in <italic>BRCA1</italic> carriers was observed for rs12025623 located at 1p36.12 (<italic>p</italic> = 7 × 10<sup>−3</sup>) in an intron of the <italic>ALPL</italic> gene. Another correlated variant (<italic>r</italic><sup>2</sup> >0.7) on chromosome 1 was also genotyped, namely rs1767429 (<italic>p</italic> = 9 × 10<sup>−3</sup>), which was also located within <italic>ALPL.</italic> The strongest evidence of association with ovarian cancer risk in <italic>BRCA2</italic> mutation carriers was observed for rs2233025 (<italic>p</italic> = 5 × 10<sup>−3</sup>), located at 1p32.22 within the <italic>MAD2L2</italic> gene. None of these associations remained statistically significant after multiple testing adjustments. Imputed genotypes of SNPs in a region encompassing ± 50 kb centered on each of the nine associated variants did not identify stronger associations.<table-wrap id="Tab3"><label>Table 3</label><caption><p>Associations with ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers for SNPs observed at <italic>p</italic> < 10<sup>−2</sup></p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left">Locations</th><th align="left">Positions</th><th align="left">SNPs</th><th align="left">Nearest genes</th><th align="left">Unaffected (number)</th><th align="left">Affected (number)</th><th align="left">Unaffected (MAF)</th><th align="left">HR* (95 % CI)</th><th align="left"><italic>p</italic> values</th></tr></thead><tbody><tr><td align="left" colspan="9"><italic>BRCA1</italic> mutation carriers</td></tr><tr><td align="left"> 1p36.12</td><td char="." align="char">21,889,340</td><td align="left">rs1767429</td><td align="left"><italic>ALPL</italic>, <italic>RAP1GAP</italic></td><td char="." align="char">12,765</td><td char="." align="char">2460</td><td char="." align="char">0.42</td><td char="(" align="char">1.092 (1.024–1.164)</td><td char="(" align="char">9 × 10<sup>−3</sup></td></tr><tr><td align="left"> 1p36.12</td><td char="." align="char">21,892,479</td><td align="left">rs12025623</td><td align="left"><italic>ALPL</italic>, <italic>RAP1GAP</italic></td><td char="." align="char">12,789</td><td char="." align="char">2460</td><td char="." align="char">0.36</td><td char="(" align="char">1.098 (1.027–1.173)</td><td char="(" align="char">7 × 10<sup>−3</sup></td></tr><tr><td align="left"> 6p21.32</td><td char="." align="char">32,913,246</td><td align="left">rs1480380</td><td align="left"><italic>BRD2</italic>, <italic>HLA</italic>-<italic>DMB</italic>, <italic>HLA</italic>-<italic>DMA</italic></td><td char="." align="char">12,790</td><td char="." align="char">2462</td><td char="." align="char">0.07</td><td char="(" align="char">1.178 (1.041–1.333)</td><td char="(" align="char">9 × 10<sup>−3</sup></td></tr><tr><td align="left"> 10p12.1</td><td char="." align="char">27,434,716</td><td align="left">rs788209</td><td align="left"><italic>ANKRD26</italic>, <italic>YME1L1</italic>, <italic>MASTL</italic>, <italic>ACBD5</italic></td><td char="." align="char">12,754</td><td char="." align="char">2455</td><td char="." align="char">0.15</td><td char="(" align="char">0.879 (0.804–0.961)</td><td char="(" align="char">5 × 10<sup>−3</sup></td></tr><tr><td align="left"> 17p13.1</td><td char="." align="char">8,071,592</td><td align="left">rs3027247</td><td align="left"><italic>MIR3676</italic>, <italic>C17orf59</italic>, <italic>AURKB</italic>, <italic>C17orf44</italic>, <italic>C17orf68</italic>, <italic>PFAS</italic></td><td char="." align="char">12,786</td><td char="." align="char">2461</td><td char="." align="char">0.29</td><td char="(" align="char">0.905 (0.844–0.970)</td><td char="(" align="char">5 × 10<sup>−3</sup></td></tr><tr><td align="left"> 17q22</td><td char="." align="char">53,032,425</td><td align="left">rs17817865</td><td align="left"><italic>MIR4315</italic>-<italic>1</italic>, <italic>TOM1L1</italic>, <italic>COX11</italic>, <italic>STXBP4</italic></td><td char="." align="char">12,790</td><td char="." align="char">2462</td><td char="." align="char">0.27</td><td char="(" align="char">0.905 (0.842–0.971)</td><td char="(" align="char">8 × 10<sup>−3</sup></td></tr><tr><td align="left" colspan="9"><italic>BRCA2</italic> mutation carriers</td></tr><tr><td align="left"> 1p32.22</td><td char="." align="char">11,735,652</td><td align="left">rs2233025</td><td align="left"><italic>MAD2L2</italic>, <italic>FBXO6</italic></td><td char="." align="char">7574</td><td char="." align="char">631</td><td char="." align="char">0.18</td><td char="(" align="char">0.777 (0.657–0.919)</td><td char="(" align="char">5 × 10<sup>−3</sup></td></tr><tr><td align="left"> 9p13.3</td><td char="." align="char">35,055,669</td><td align="left">rs595429</td><td align="left"><italic>VCP</italic>, <italic>FANCG</italic>, <italic>c9orf131</italic></td><td char="." align="char">7579</td><td char="." align="char">631</td><td char="." align="char">0.46</td><td char="(" align="char">0.856 (0.758–0.964)</td><td char="(" align="char">6 × 10<sup>−3</sup></td></tr><tr><td align="left"> 17q25.3</td><td char="." align="char">76,219,783</td><td align="left">rs2239680</td><td align="left"><italic>DHX29</italic>, <italic>SKIV2L2</italic></td><td char="." align="char">7579</td><td char="." align="char">630</td><td char="." align="char">0.28</td><td char="(" align="char">0.828 (0.722–0.948)</td><td char="(" align="char">7 × 10<sup>−3</sup></td></tr></tbody></table><table-wrap-foot><p><italic>CI</italic> confidence interval, <italic>HR</italic> hazard ratio, <italic>MAF</italic> minor allele frequency, <italic>SNP</italic> single-nucleotide polymorphism</p><p>* Hazard ratio per allele (one degree of freedom) estimated from the retrospective likelihood analysis</p></table-wrap-foot></table-wrap></p></sec><sec id="Sec12"><title>eQTL analysis in breast tissue</title><p>To identify the genes influenced via the observed associations with breast cancer at locus 11q22.3, eQTL analysis was performed using gene expression data from tumor and normal breast tissues (for detailed descriptions of datasets, refer to Online Resource 4), and all genotyped as well as imputed SNPs within a 1-Mb region on either side of the most significant genotyped SNP. eQTL associations were observed in both normal and tumor breast tissues in this region, although none of those were correlated with our most significant risk SNPs (Online Resource 7). The strongest eQTL associations were observed in the breast cancer tissue dataset BC241 for the <italic>SLC35F2</italic> gene (rs181187590, <italic>p</italic> = 1.4 × 10<sup>−5</sup>, <italic>r</italic><sup>2</sup> = 0.08, i.e., 8 % of the variation in <italic>SLC35F2</italic> expression was attributable to this SNP). Other eQTLs observed in this dataset included <italic>ELMOD1</italic> (rs181187590, <italic>p</italic> = 1.3 × 10<sup>−4</sup>, <italic>r</italic><sup>2</sup> = 0.06), <italic>EXPH5</italic> (rs181187590, <italic>p</italic> = 3 × 10<sup>−4</sup>, <italic>r</italic><sup>2</sup> = 0.054), and <italic>ATM</italic> (rs4987915, <italic>p</italic> = 3.7 × 10<sup>−4</sup>, <italic>r</italic><sup>2</sup> = 0.05). In <italic>The Cancer Genome Atlas</italic> (TCGA) BC765 breast cancer dataset, the strongest associations with gene expression were observed for the non-coding RNA lLOC643923 (rs183293362, <italic>p</italic> = 2.3 × 10<sup>−4</sup>, <italic>r</italic><sup>2</sup> = 0.02), <italic>ATM</italic> (rs4987924, <italic>p</italic> = 8.3 × 10<sup>−4</sup>, <italic>r</italic><sup>2</sup> = 0.015), and <italic>KDELC2</italic> (rs4753834, <italic>p</italic> = 8.6 × 10<sup>−4</sup>, <italic>r</italic><sup>2</sup> = 0.015) loci. The eQTL analysis performed for the TCGA normal breast tissue dataset (NB93) showed an association between SNP chr11:108075271:D and <italic>ACAT1</italic> gene expression level (<italic>p</italic> = 6.5 × 10<sup>−3</sup>, <italic>r</italic><sup>2</sup> = 0.08). No association was observed in the normal breast tissue dataset NB116.</p></sec><sec id="Sec13"><title>Functional annotation</title><p>In order to assess the potential functional role of the most significant risk SNPs in the 11q22.3 region, ENCODE chromatin biological features were evaluated in available breast cells, namely HMECs, breast myoepithelial cells, and MCF7 breast cancer cells. We observed some overlap between features of interest and candidate SNPs within the 11q22.3 region (Fig. <xref rid="Fig2" ref-type="fig">2</xref>). The most interesting variant was rs228606, which overlapped a monomethylated H3K4 mark in HMECs. Analysis of data from the Roadmap Epigenomics project also showed overlap with a monomethylated H3K4 mark and with an acetylated H3K9 mark in primary breast myoepithelial cells. From ChiA-PET data, chromosomal interactions were found in the <italic>NPAT</italic> and <italic>ATM</italic> genes in MCF7 cells, located mainly in the vicinity of the promoter regions of these genes, which encompassed a strongly associated imputed SNP at this locus, namely chr11:108098459_TAA_T. Lastly, although super-enhancers and predicted enhancer–promoter interactions mapped to the 11q22.3 locus in HMECs, none overlapped with our top candidate SNPs (Fig. <xref rid="Fig2" ref-type="fig">2</xref>).<fig id="Fig2"><label>Fig. 2</label><caption><p>Functional annotation of the 11q22.3 locus. <italic>Upper panel</italic> functional annotations using data from the ENCODE and NIH Roadmap Epigenomics projects. From <italic>top</italic> to <italic>bottom</italic>, epigenetic signals evaluated included DNase clusters in MCF7 cells and HMECs, chromatin state segmentation by hidden Markov model (ChromHMM) in HMECs, breast myoepithelial cells, and variant human mammary epithelial cells (vHMECs), where <italic>red</italic> represents an active promoter region, <italic>orange</italic> a strong enhancer, and <italic>yellow</italic> a poised enhancer (the detailed <italic>color scheme</italic> of chromatin states is described in the UCSC browser), and histone modifications in MCF7 and HMEC cell lines. All tracks were generated by the UCSC genome browser (hg 19 release). <italic>Lower panel</italic> long-range chromatin interactions: from <italic>top</italic> to <italic>bottom</italic>, ChiA-PET interactions for RNA polymerase II in MCF-7 cells identified through ENCODE and 4D-genome. The ChiA-PET raw data available from the GEO database under the following accession (GSE33664, GSE39495) were processed with the GenomicRanges package. Maps of mammary cell super-enhancer locations as defined in Hnisz et al. [<xref ref-type="bibr" rid="CR24">24</xref>] are shown in HMECs. Predicted enhancer–promoter determined interactions in HMECs, as defined by the integrated method for predicting enhancer targets (IM-PET), are shown. The annotation was obtained through the Bioconductor annotation package TxDb.Hsapiens.UCSC.hg19.knownGene. The tracks have been generated using ggplot2 and ggbio library in R</p></caption><graphic xlink:href="10549_2016_4018_Fig2_HTML" id="MO2"></graphic></fig></p></sec></sec><sec id="Sec14" sec-type="discussion"><title>Discussion</title><p>DAE is a common phenomenon in human genes, which represents a new approach to identifying <italic>cis</italic>-acting mechanisms of gene regulation. It offers a new avenue for the study of GWAS variants significantly associated with various diseases/traits. Indeed, the majority of GWAS hits localize outside known protein-coding regions [<xref ref-type="bibr" rid="CR11">11</xref>, <xref ref-type="bibr" rid="CR12">12</xref>], suggesting a regulatory role for these variants. In the present study, we have assessed the association between 320 SNPs associated with DAE and breast/ovarian cancer risk among <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Using this approach, we found evidence of association for a region at 11q22.3, with breast cancer risk in <italic>BRCA1</italic> mutation carriers. Analysis of imputed SNPs across a 185-kb region (±50 kb from the center of each of the three genotyped SNPs at this locus) revealed a set of five strongly correlated SNPs that were significantly associated with breast cancer risk. This region contains several genes including <italic>ACAT1</italic>, <italic>NPAT</italic>, and <italic>ATM</italic>. <italic>ACAT1</italic> (<underline>a</underline>cetyl-<underline>C</underline>oA <underline>a</underline>cetyl<underline>t</underline>ransferase 1) encodes a mitochondrial enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with ketothiolase deficiency, an inborn error of isoleucine catabolism [<xref ref-type="bibr" rid="CR29">29</xref>]. <italic>NPAT</italic> (<underline>n</underline>uclear <underline>p</underline>rotein, co-<underline>a</underline>ctivator of histone <underline>t</underline>ranscription) is required for progression through the G1 and S phases of the cell cycle, for S phase entry [<xref ref-type="bibr" rid="CR30">30</xref>], and for the activation of the transcription of histones H2A, H2B, H3, and H4 [<xref ref-type="bibr" rid="CR31">31</xref>]. <italic>NPAT</italic> germline mutations have been associated with Hodgkin lymphoma [<xref ref-type="bibr" rid="CR32">32</xref>]. Finally, <italic>ATM</italic> (<underline>a</underline>taxia <underline>t</underline>elangiectasia <underline>m</underline>utated) encodes an important cell cycle checkpoint kinase that is required for cellular response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder [<xref ref-type="bibr" rid="CR33">33</xref>]. <italic>ATM</italic> is also an intermediate-risk breast cancer susceptibility gene, with rare heterozygous variants being associated with increased risk of developing the disease [<xref ref-type="bibr" rid="CR34">34</xref>]. Although several studies have assessed the role of the most common <italic>ATM</italic> variants in breast cancer susceptibility, the results obtained are inconsistent [<xref ref-type="bibr" rid="CR35">35</xref>]. A recent study had identified an association between an <italic>ATM</italic> haplotype and breast cancer risk in <italic>BRCA1</italic> mutation carriers with a false discovery rate-adjusted <italic>p</italic> value of 0.029 for overall association of the haplotype [<xref ref-type="bibr" rid="CR36">36</xref>]. Four of the five SNPs making up the haplotype were almost perfectly correlated (<italic>r</italic><sup>2</sup> >0.9) with the three originally genotyped SNPs of the present study. These SNPs were, however, only moderately correlated (<italic>r</italic><sup>2</sup> >0.4) with the most significant risk SNPs (<italic>p</italic> = 10<sup>−6</sup>), identified later through imputation.</p><p>Although eQTL analysis has identified <italic>cis</italic>-eQTL associations between several variants and <italic>ACAT1</italic>, <italic>ATM</italic> as well as other neighboring genes in both breast carcinoma and normal breast tissues, none of these associations involved the most significantly associated risk SNPs. Furthermore, the correlation between eQTLs and the most significant risk SNPs was weak. The lack of consistency between the eQTL results and the allelic imbalance data originally used for SNP selection in the design of the present study can probably be explained by the differences between the cell types used in these analyses. The list of allelic imbalance-associated SNPs was selected from studies performed in lymphoblastoid cell lines [<xref ref-type="bibr" rid="CR15">15</xref>], primary skin fibroblasts [<xref ref-type="bibr" rid="CR13">13</xref>, <xref ref-type="bibr" rid="CR16">16</xref>], and primary monocytes [<xref ref-type="bibr" rid="CR17">17</xref>], while eQTLs were analyzed in breast carcinoma and normal breast tissue. This tissue heterogeneity in the data sources used represents one of the limitations of this study, although no such data were available in mammary cells when this study was originally designed.</p><p>The identification of a region at 11q22.3 that is associated specifically with breast cancer risk in <italic>BRCA1</italic> mutation carriers may explain why association studies performed using breast cancer cases from the general population have so far yielded conflicting results with regard to common variants at this locus. The majority of tumors arising in <italic>BRCA1</italic> carriers show either low or absent ER expression, while the majority of <italic>BRCA2</italic>-associated tumors are ER positive, as in most sporadic cancers arising in the general population. Large-scale studies using only ER-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.</p></sec><sec sec-type="supplementary-material"><title>Electronic supplementary material</title><sec id="Sec15"><p>Below is the link to the electronic supplementary material.
<supplementary-material content-type="local-data" id="MOESM1"><media xlink:href="10549_2016_4018_MOESM1_ESM.pdf"><caption><p>Supplementary material 1 (PDF 56 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM2"><media xlink:href="10549_2016_4018_MOESM2_ESM.doc"><caption><p>Supplementary material 2 (DOC 81 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM3"><media xlink:href="10549_2016_4018_MOESM3_ESM.pdf"><caption><p>Supplementary material 3 (PDF 92 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM4"><media xlink:href="10549_2016_4018_MOESM4_ESM.doc"><caption><p>Supplementary material 4 (DOC 34 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM5"><media xlink:href="10549_2016_4018_MOESM5_ESM.xlsx"><caption><p>Supplementary material 5 (XLSX 281 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM6"><media xlink:href="10549_2016_4018_MOESM6_ESM.xlsx"><caption><p>Supplementary material 6 (XLSX 383 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM7"><media xlink:href="10549_2016_4018_MOESM7_ESM.xlsx"><caption><p>Supplementary material 7 (XLSX 180 kb)</p></caption></media></supplementary-material></p></sec></sec></body><back><fn-group><fn><p>The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the Collaborating Centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.</p></fn><fn><p>Rita Katharina Schmutzler: On behalf of the German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC).</p></fn></fn-group><ack><p>Silje Nord was financed by a Carrier Grant from the Norwegian Regional Health authorities (Grant Number 2014061). <bold>BCFR-AU:</bold> Maggie Angelakos, Judi Maskiell, Gillian Dite, Helen Tsimiklis. <bold>BCFR-NY:</bold> we wish to thank members and participants in the New York site of the Breast Cancer Family Registry for their contributions to the study. <bold>BCFR-ON:</bold> we wish to thank the members and participants in the Ontario Familial Breast Cancer Registry for their contributions to the study. <bold>BFBOCC-LT</bold> thank Vilius Rudaitis and Laimonas Griškevičius. BFBOCC-LV thank Drs. Janis Eglitis, Anna Krilova, and Aivars Stengrevics. <bold>BMBSA</bold> wish to thank the families who contribute to the BMBSA study. <bold>BRICOH:</bold> we wish to thank Yuan Chun Ding and Linda Steele for their work in participant enrollment and biospecimen and data management. <bold>CBCS:</bold> we thank Bent Ejlertsen and Anne-Marie Gerdes for the recruitment and genetic counseling of participants. <bold>CNIO</bold>: we thank Alicia Barroso, Rosario Alonso, and Guillermo Pita for their assistance. <bold>CONSIT TEAM:</bold> Daniela Zaffaroni of the Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy; Monica Barile and Irene Feroce of the Istituto Europeo di Oncologia, Milan; Maria Grazia Tibiletti of the Ospedale di Circolo-Università dell’Insubria, Varese, Italy; Liliana Varesco of the IRCCS AOU San Martino: IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy; Alessandra Viel of the CRO Aviano National Cancer Institute, Aviano, Italy; Gabriele Capone of the University of Florence, Florence, Italy; Laura Ottini and Giuseppe Giannini of the “Sapienza” University, Rome, Italy; Antonella Savarese and Aline Martayan of the Istituto Nazionale Tumori Regina Elena, Rome, Italy; Stefania Tommasi and Brunella Pilato of the Istituto Nazionale Tumori “Giovanni Paolo II,” Bari, Italy; and the personnel of the Cogentech Cancer Genetic Test Laboratory, Milan, Italy. <bold>CORE:</bold> the CIMBA data management and analysis was funded through Cancer Research: UK Grant C12292/A11174. ACA is a Senior Cancer Research: UK Research Fellow. We wish to thank Sue Healey for her enormous contribution to CIMBA, in particular taking on the task of mutation classification with Olga Sinilnikova. <bold>EMBRACE:</bold> RE was supported by NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. <bold>FCCC:</bold> we thank Ms. JoEllen Weaver and Dr. Betsy Bove for their technical support. <bold>GC-HBOC:</bold> we would like to thank LIFE: Leipzig Research Centre for Civilization Diseases (Markus Loeffler, Joachim Thiery, Matthias Nüchter, Ronny Baber). Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (<bold>GEMO</bold>) Study: National Cancer Genetics Network «UNICANCER Genetic Group», France. We wish to pay a tribute to Olga M. Sinilnikova, who with Dominique Stoppa-Lyonnet initiated and coordinated GEMO until she sadly passed away on the 30th June 2014, and to thank all the GEMO Collaborating Groups for their contribution to this study. GEMO Collaborating Centers are as follows: Coordinating Centres, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon: Centre Léon Bérard, and Equipe «Génétique du cancer du sein», Centre de Recherche en Cancérologie de Lyon: Olga Sinilnikova†, Sylvie Mazoyer, Francesca Damiola, Laure Barjhoux, Carole Verny-Pierre, Mélanie Léone, Nadia Boutry-Kryza, Alain Calender, Sophie Giraud; and Service de Génétique Oncologique, Institut Curie, Paris: Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Claude Houdayer, Etienne Rouleau, Lisa Golmard, Agnès Collet, Virginie Moncoutier, Muriel Belotti, Antoine de Pauw, Camille Elan, Catherine Nogues, Emmanuelle Fourme, Anne-Marie Birot. Institut Gustave Roussy, Villejuif: Brigitte Bressac-de-Paillerets, Olivier Caron, Marine Guillaud-Bataille. Centre Jean Perrin, Clermont–Ferrand: Yves-Jean Bignon, Nancy Uhrhammer. Centre Léon Bérard, Lyon: Christine Lasset, Valérie Bonadona, Sandrine Handallou. Centre François Baclesse, Caen: Agnès Hardouin, Pascaline Berthet, Dominique Vaur, Laurent Castera. Institut Paoli Calmettes, Marseille: Hagay Sobol, Violaine Bourdon, Tetsuro Noguchi, Audrey Remenieras, François Eisinger. CHU Arnaud-de-Villeneuve, Montpellier: Isabelle Coupier, Pascal Pujol. Centre Oscar Lambret, Lille: Jean-Philippe Peyrat, Joëlle Fournier, Françoise Révillion, Philippe Vennin†, Claude Adenis. Centre Paul Strauss, Strasbourg: Danièle Muller, Jean-Pierre Fricker. Institut Bergonié, Bordeaux: Emmanuelle Barouk-Simonet, Françoise Bonnet, Virginie Bubien, Nicolas Sevenet, Michel Longy. Institut Claudius Regaud, Toulouse: Christine Toulas, Rosine Guimbaud, Laurence Gladieff, Viviane Feillel. CHU Grenoble: Dominique Leroux, Hélène Dreyfus, Christine Rebischung, Magalie Peysselon. CHU Dijon: Fanny Coron, Laurence Faivre. CHU St-Etienne: Fabienne Prieur, Marine Lebrun, Caroline Kientz. Hôtel Dieu Centre Hospitalier, Chambéry: Sandra Fert Ferrer. Centre Antoine Lacassagne, Nice: Marc Frénay. CHU Limoges: Laurence Vénat-Bouvet. CHU Nantes: Capucine Delnatte. CHU Bretonneau, Tours: Isabelle Mortemousque. Groupe Hospitalier Pitié-Salpétrière, Paris: Florence Coulet, Chrystelle Colas, Florent Soubrier, Mathilde Warcoin. CHU Vandoeuvre-les-Nancy: Johanna Sokolowska, Myriam Bronner. CHU Besançon: Marie-Agnès Collonge-Rame, Alexandre Damette. Creighton University, Omaha, USA: Henry T. Lynch, Carrie L. Snyder. <bold>G-FAST:</bold> we wish to thank the technical support of Ilse Coene en Brecht Crombez. <bold>HCSC:</bold> we acknowledge the technical assistance of Alicia Tosar and Paula Diaque. <bold>HEBCS</bold> would like to thank Drs. Sofia Khan, Taru A. Muranen, Carl Blomqvist and RNs Irja Erkkilä and Virpi Palola for their help with the HEBCS data and samples. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (<bold>HEBON</bold>) consists of the following Collaborating Centers: Coordinating Center: Netherlands Cancer Institute, Amsterdam, NL: M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, S. Verhoef, M.K. Schmidt, N.S. Russell, D.J. Jenner; Erasmus Medical Center, Rotterdam, NL: J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, C. Seynaeve, C.H.M. van Deurzen, I.M. Obdeijn; Leiden University Medical Center, NL: C.J. van Asperen, J.T. Wijnen, R.A.E.M. Tollenaar, P. Devilee, T.C.T.E.F. van Cronenburg; Radboud University Nijmegen Medical Center, NL: C.M. Kets, A.R. Mensenkamp; University Medical Center Utrecht, NL: M.G.E.M. Ausems, R.B. van der Luijt, C.C. van der Pol; Amsterdam Medical Center, NL: C.M. Aalfs, T.A.M. van Os; VU University Medical Center, Amsterdam, NL: J.J.P. Gille, Q. Waisfisz, H.E.J. Meijers-Heijboer; University Hospital Maastricht, NL: E.B. Gómez-Garcia, M.J. Blok; University Medical Center Groningen, NL: J.C. Oosterwijk, A.H. van der Hout, M.J. Mourits, G.H. de Bock; The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, NL: H.F. Vasen; The Netherlands Comprehensive Cancer Organization (IKNL): S. Siesling, J. Verloop; The Dutch Pathology Registry (PALGA): L.I.H. Overbeek. The HEBON study was supported by the Dutch Cancer Society Grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the Netherlands Organization of Scientific Research Grant NWO 91109024, the Pink Ribbon Grants 110005 and 2014-187.WO76, the BBMRI Grant NWO 184.021.007/CP46, and the Transcan Grant JTC 2012 Cancer 12-054. HEBON thanks the registration teams of IKNL and PALGA for their help in part of the data collection. <bold>HRBCP:</bold> we wish to thank Hong Kong Sanatorium and Hospital for their continued support. <bold>HUNBOCS:</bold> we wish to thank the Hungarian Breast and Ovarian Cancer Study Group Members (Janos Papp, Tibor Vaszko, Aniko Bozsik, Judit Franko, Maria Balogh, Gabriella Domokos, Judit Ferenczi, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) and the clinicians and patients for their contributions to this study. <bold>HVH:</bold> we wish to thank the Oncogenetics Group (VHIO) and the High Risk and Cancer Prevention Unit of the University Hospital Vall d’Hebron. Thanks to the Cellex Foundation for providing research facilities and equipment. ICO: we wish to thank the ICO Hereditary Cancer Program Team led by Dr. Gabriel Capella. <bold>INHERIT:</bold> we would like to thank Dr. Martine Dumont for sample management and skillful assistance. J.S. is Chairholder of the Canada Research Chair in Oncogenetics. J.S. and P.S. were part of the QC and Genotyping Coordinating Group of iCOGS (BCAC and CIMBA). <bold>IPOBCS:</bold> we wish to thank Drs. Ana Peixoto, Catarina Santos, and Pedro Pinto for their skillful contribution to the study. <bold>KCONFAB:</bold> we wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study [which has received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia, and the National Institute of Health (USA)] for their contributions to this resource, and the many families who contribute to kConFab. <bold>Modifier Study of Quantitative Effects on Disease (MODSQUAD)</bold> thank ModSQuaD members Csilla Szabo (National Human Genome Research Institute, National Institutes of Health,
Bethesda, MD, USA); Lenka Foretova and Eva Machackova (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute and MF MU, Brno, Czech Republic); and Michal Zikan, Petr Pohlreich, and Zdenek Kleibl (Oncogynecologic Center and Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic). <bold>MSKCC:</bold> Anne Lincoln, Lauren Jacobs. <bold>NICCC:</bold> we wish to thank the NICCC National Familial Cancer Consultation Service Team led by Sara Dishon, the Lab Team led by Dr. Flavio Lejbkowicz, and the Research Field Operations Team led by Dr. Mila Pinchev. <bold>NRG Oncology:</bold> we thank the investigators of the Australia New Zealand NRG Oncology Group. <bold>OCGN:</bold> we wish to thank the members and participants in the Ontario Cancer Genetics Network for their contributions to the study. <bold>OSUCCG:</bold> Leigha Senter, Kevin Sweet, Caroline Craven, Julia Cooper, and Michelle O’Conor were instrumental in accrual of study participants, ascertainment of medical records, and database management. <bold>SEABASS:</bold> we would like to thank Yip Cheng Har, Nur Aishah Mohd Taib, Phuah Sze Yee, Norhashimah Hassan, and all the research nurses, research assistants, and doctors involved in the MyBrCa Study for their assistance in patient recruitment, data collection, and sample preparation. In addition, we thank Philip Iau, Sng Jen-Hwei, and Sharifah Nor Akmal for contributing samples from the Singapore Breast Cancer Study and the HUKM-HKL Study. The Malaysian Breast Cancer Genetic Study was funded by Research Grants from the Malaysian Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HIR/MOHE/06), and charitable funding from Cancer Research Initiatives Foundation. <bold>SMC</bold> Team wishes to acknowledge the assistance of the Meirav Comprehensive Breast Cancer Center Team at the Sheba Medical Center for their assistance in this study. <bold>SWE-BRCA:</bold> Swedish scientists participating as SWE-BRCA Collaborators are from Lund University and University Hospital: Åke Borg, Håkan Olsson, Helena Jernström, Karin Henriksson, Katja Harbst, Maria Soller, Ulf Kristoffersson; from Gothenburg Sahlgrenska University Hospital: Anna Öfverholm, Margareta Nordling, Per Karlsson, Zakaria Einbeigi; from Stockholm and Karolinska University Hospital: Anna von Wachenfeldt, Annelie Liljegren, Annika Lindblom, Brita Arver, Gisela Barbany Bustinza, Johanna Rantala; from Umeå University Hospital: Beatrice Melin, Christina Edwinsdotter Ardnor, Monica Emanuelsson; from Uppsala University: Hans Ehrencrona, Maritta Hellström Pigg, Richard Rosenquist; and from Linköping University Hospital: Marie Stenmark-Askmalm, Sigrun Liedgren. <bold>UCHICAGO:</bold> we wish to thank Cecilia Zvocec, Qun Niu, physicians, genetic counselors, research nurses and staff of the Cancer Risk Clinic for their contributions to this resource, and the many families who contribute to our program. <bold>UCLA:</bold> we thank Joyce Seldon MSGC and Lorna Kwan, MPH, for assembling the data for this study. <bold>UCSF:</bold> we would like to thank Dr. Robert Nussbaum and the following genetic counselors for participant recruitment: Beth Crawford, Kate Loranger, Julie Mak, Nicola Stewart, Robin Lee, Amie Blanco, and Peggy Conrad. And thanks to Ms. Salina Chan for her data management. <bold>UKFOCR:</bold> we thank Susan Ramus, Carole Pye, Patricia Harrington, and Eva Wozniak for their contributions toward the UKFOCR. <bold>VFCTG:</bold> Geoffrey Lindeman, Marion Harris, Martin Delatycki of the Victorian Familial Cancer Trials Group. We thank Sarah Sawyer and Rebecca Driessen for assembling the data and Ella Thompson for performing all DNA amplification.</p><sec id="d29e6069"><title>Funding</title><p>Funding for the iCOGS infrastructure came from the European Community’s Seventh Framework Programme under Grant Agreement No. 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-cancer GWAS Initiative (1U19 CA148537, 1U19 CA148065, and 1U19 CA148112: the GAME-ON Initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. <bold>BCFR</bold>: this work was supported by Grant UM1 CA164920 from the National Cancer Institute. <bold>BFBOCC</bold> was supported by Lithuania (BFBOCC-LT): Research Council of Lithuania Grant SEN-18/2015. <bold>BIDMC</bold> was supported by the Breast Cancer Research Foundation. BRCA-gene mutations and breast cancer in South African women (<bold>BMBSA</bold>) was supported by Grants from the Cancer Association of South Africa (CANSA) to Elizabeth J. van Rensburg. <bold>BRICOH:</bold> SLN was partially supported by the Morris and Horowitz Families Endowed Professorship. <bold>CNIO:</bold> this work was partially supported by Spanish Association Against Cancer (AECC08), RTICC 06/0020/1060, FISPI08/1120, Mutua Madrileña Foundation (FMMA), and SAF2010-20493. <bold>COH-CCGCRN:</bold> patients were recruited for this study from the City of Hope Clinical Cancer Genomics Community Research Network, supported in part by Award Number RC4CA153828 (PI: J. Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. <bold>CONSIT Team:</bold> Associazione Italiana Ricerca sul Cancro (AIRC) to P. Peterlongo (IG 2012 Id.12821) and P. Radice (IG 2014 Id.15547). Funds from Italian citizens who allocated the 5 × 1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional Strategic Projects ‘5x1000’) to S. Manoukian. FiorGen Foundation for Pharmacogenomics to L. Papi. <bold>CORE:</bold> the CIMBA Data Management and Data Analysis were supported by Cancer Research: UK Grants C12292/A20861, C12292/A11174. ACA is a Cancer Research-UK Senior Cancer Research Fellow. GCT is an NHMRC Senior Principal Research Fellow. J. Lecarpentier has been financially supported by the Fondation ARC (FONDATION ARC, 9 rue Guy Môquet 94803 Villejuif: France), Grant Number SAE20131200623. This work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” Program: Grant No. CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade: Grant No. PSR-SIIRI-701. The PERSPECTIVE Project was supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministère de l’Économie, Innovation et Exportation du Québec through Genome Québec, and The Quebec Breast Cancer Foundation. This work was also supported by the Ministère de l’Économie, Innovation et Exportation du Québec: Grant No. PSR-SIIRI-701. <bold>DEMOKRITOS:</bold> this research has been co-financed by the European Union (European Social Fund: ESF) and Greek National Funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework (NSRF): Research Funding Program of the General Secretariat for Research and Technology: SYN11_10_19 NBCA. Investing in Knowledge Society through the European Social Fund. The <bold>DKFZ</bold> Study was supported by the DKFZ. <bold>EMBRACE</bold> was supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. D. Gareth Evans and Fiona Lalloo were supported by an NIHR Grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust were supported by an NIHR Grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeles and Elizabeth Bancroft were supported by Cancer Research UK Grant C5047/A8385. Ros Eeles was also supported by NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. <bold>FCCC:</bold> the authors acknowledge the support from The University of Kansas Cancer Center (P30 CA168524) and the Kansas Bioscience Authority Eminent Scholar Program. A.K.G. was funded by 5U01CA113916, R01CA140323, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. The German Consortium of Hereditary Breast and Ovarian Cancer (<bold>GC-HBOC</bold>) was supported by the German Cancer Aid (Grant No. 110837, Rita K. Schmutzler). This work was supported by the European Regional Development Fund and Free State of Saxony, Germany (LIFE: Leipzig Research Centre for Civilization Diseases, Project Numbers 713-241202, 713-241202, 14505/2470, 14575/2470). <bold>GEMO:</bold> the study was supported by the Ligue Nationale Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award; the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” Program and the French National Institute of Cancer (INCa). GEORGETOWN: CI received support from the Non-therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI Grant P30-CA051008), the Fisher Center for Hereditary Cancer and Clinical Genomics
Research, and Swing Fore the Cure. G-FAST: Bruce Poppe is a Senior Clinical Investigator of FWO. Mattias Van Heetvelde obtained funding from IWT. <bold>HCSC</bold> was supported by a Grant RD12/0036/0006 and 15/00059 from ISCIII (Spain), partially supported by European Regional Development FEDER Funds. The HEBCS was financially supported by the Helsinki University Hospital Research Fund, Academy of Finland (266528), the Finnish Cancer Society and the Sigrid Juselius Foundation. <bold>HEBON</bold> Study was supported by the Dutch Cancer Society Grants NKI1998-1854, NKI2004-3088, and NKI2007-3756, the Netherlands Organization of Scientific Research Grant NWO 91109024, the Pink Ribbon Grants 110005 and 2014-187.WO76, the BBMRI Grant NWO 184.021.007/CP46, and the Transcan Grant JTC 2012 Cancer 12-054. HEBON thanks the Registration Teams of Dutch Cancer Registry (IKNL; S. Siesling, J. Verloop) and the Dutch Pathology database (PALGA; L. Overbeek) for their help in part of the data collection. <bold>HRBCP</bold> was supported by the Hong Kong Sanatorium and Hospital, Dr. Ellen Li Charitable Foundation, The Kerry Group Kuok Foundation, National Institute of Health 1R 03CA130065, and North California Cancer Center. Hungarian Breast and Ovarian Cancer Study (<bold>HUNBOCS</bold>) was supported by Hungarian Research Grants KTIA-OTKA CK-80745 and OTKA K-112228. <bold>ICO:</bold> Contract Grant Sponsor: Asociación Española Contra el Cáncer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia. Contract Grant Numbers: ISCIIIRETIC RD06/0020/1051, RD12/0036/008, PI10/01422, PI10/00748, PI13/00285, PIE13/00022, 2009SGR290, and 2014SGR364. The <bold>IHCC</bold> was supported by Grant PBZ_KBN_122/P05/2004. The <bold>ILUH</bold> Group was supported by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. <bold>INHERIT:</bold> this work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” Program: Grant No. CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade: Grant No. PSR-SIIRI-701. The PERSPECTIVE Project was supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (Grant GPH-129344), the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec, and the Quebec Breast Cancer Foundation. <bold>IOVHBOCS</bold> was supported by Ministero della Salute and “5x1000” Istituto Oncologico Veneto Grant. <bold>IPOBCS:</bold> this study was in part supported by Liga Portuguesa Contra o Cancro. <bold>kConFab</bold> was supported by a Grant from the National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia, and the Cancer Foundation of Western Australia. <bold>KOHBRA</bold> was supported by a Grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family Affairs, Republic of Korea (1020350). <bold>MAYO</bold> was supported by NIH Grants CA116167, CA192393, and CA176785, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), and a Grant from the Breast Cancer Research Foundation. <bold>MCGILL:</bold> Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. <bold>MODSQUAD</bold> was supported by MH CZ: DRO (MMCI, 00209805) and by the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101) to LF, and by Charles University in Prague Project UNCE204024 (MZ). <bold>MSKCC</bold> was supported by Grants from the Breast Cancer Research Foundation, the Robert and Kate Niehaus Clinical Cancer Genetics Initiative, and the Andrew Sabin Research Fund. <bold>NAROD:</bold> 1R01 CA149429-01. <bold>NCI:</bold> the research of Drs. MH Greene and PL Mai was supported by the Intramural Research Program of the US National Cancer Institute, NIH, and by Support Services Contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Inc., Rockville, MD. <bold>NICCC</bold> was supported by Clalit Health Services in Israel. Some of its activities were supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. <bold>NNPIO:</bold> this work has been supported by the Russian Federation for Basic Research (Grants 15-04-01744 and 16-54-00055). <bold>NRG Oncology:</bold> this study was supported by NRG Oncology Operations Grant Number U10 CA180868 as well as NRG SDMC Grant U10 CA180822, Gynecologic Oncology Group (GOG) Administrative Office and the GOG Tissue Bank (CA 27469), and the GOG Statistical and Data Center (CA 37517). Drs. Greene, Mai, and Savage were supported by Funding from the Intramural Research Program, NCI. <bold>OSUCCG</bold> was supported by the Ohio State University Comprehensive Cancer Center. <bold>PBCS:</bold> this work was supported by the Italian Association of Cancer Research (AIRC) [IG 2013 N.14477] and Tuscany Institute for Tumors (ITT) Grant 2014–2015–2016. <bold>SEABASS:</bold> Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06), and Cancer Research Initiatives Foundation. The <bold>SMC</bold> Team was in part sponsored by a Grant from the Israeli Cancer Association to the Israeli Consortium of Hereditary Breast Cancer. <bold>SWE-BRCA</bold> Collaborators were supported by the Swedish Cancer Society. <bold>UCHICAGO</bold> was supported by NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032, and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women’s Cancer Research Alliance, and the Breast Cancer Research Foundation. OIO is an ACS Clinical Research Professor. <bold>UCLA:</bold> Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation. <bold>UCSF:</bold> UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center. <bold>UKFOCR</bold> was supported by a Project Grant from CRUK to Paul Pharoah. <bold>UPENN:</bold> National Institutes of Health (NIH) (R01-CA102776 and R01-CA083855; Breast Cancer Research Foundation; Susan G. Komen Foundation for the Cure, Basser Research Center for BRCA. <bold>VFCTG:</bold> Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation. <bold>WCP:</bold> Dr. Karlan was funded by the American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN) and the National Center for Advancing Translational Sciences (NCATS), Grant UL1TR000124.</p></sec></ack><notes notes-type="COI-statement"><title>Compliance with ethical standards</title><sec id="FPar1"><title>Conflict of interest</title><p>The authors declare that they have no conflict of interest.</p></sec><sec id="FPar2"><title>Ethical approval</title><p>Study participants were recruited through the CIMBA Initiative, following the approval of the corresponding protocol by the Institutional Review Board or Ethics Committee at each participating center. 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