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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><author><name sortKey="Vigorito, Elena" sort="Vigorito, Elena" uniqKey="Vigorito E" first="Elena" last="Vigorito">Elena Vigorito</name><affiliation><nlm:aff id="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kuchenbaecker, Karoline B" sort="Kuchenbaecker, Karoline B" uniqKey="Kuchenbaecker K" first="Karoline B." last="Kuchenbaecker">Karoline B. Kuchenbaecker</name><affiliation><nlm:aff id="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name><affiliation><nlm:aff id="aff002"><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></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="aff003"><addr-line>Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Agnarsson, Bjarni A" sort="Agnarsson, Bjarni A" uniqKey="Agnarsson B" first="Bjarni A." last="Agnarsson">Bjarni A. Agnarsson</name><affiliation><nlm:aff id="aff004"><addr-line>Department of Pathology, University Hospital (Landspitali) and University of Iceland School of Medicine, Hringbraut, 101 Reykjavik, Iceland</addr-line></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="aff005"><addr-line>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada</addr-line></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="aff006"><addr-line>Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, 1515 Pressler Street, CBP 5, Houston, TX, United States of America</addr-line></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="aff007"><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Belotti, Muriel" sort="Belotti, Muriel" uniqKey="Belotti M" first="Muriel" last="Belotti">Muriel Belotti</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></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="aff009"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain, and Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Berger, Andreas" sort="Berger, Andreas" uniqKey="Berger A" first="Andreas" last="Berger">Andreas Berger</name><affiliation><nlm:aff id="aff010"><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="aff011"><addr-line>Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, Vejle, Denmark</addr-line></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="aff012"><addr-line>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), via Ripamonti 435, 20141 Milan, Italy</addr-line></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="aff013"><addr-line>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldes">Trinidad Caldes</name><affiliation><nlm:aff id="aff014"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</addr-line></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="aff015"><addr-line>Section of Genetic Oncology, Dept. of Laboratory Medicine, University and University Hospital of Pisa, Pisa Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Campbell, Ian" sort="Campbell, Ian" uniqKey="Campbell I" first="Ian" last="Campbell">Ian Campbell</name><affiliation><nlm:aff id="aff016"><addr-line>Research Division, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett Street, Melbourne, VIC 8006, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chan, Salina B" sort="Chan, Salina B" uniqKey="Chan S" first="Salina B." last="Chan">Salina B. Chan</name><affiliation><nlm:aff id="aff017"><addr-line>1600 Divisadero Street, C415, San Francisco, CA 94143–1714, United States of America</addr-line></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="aff018"><addr-line>Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cohn, David E" sort="Cohn, David E" uniqKey="Cohn D" first="David E." last="Cohn">David E. Cohn</name><affiliation><nlm:aff id="aff019"><addr-line>Ohio State University Columbus Cancer Council GYN Oncology, 3651 Ridge Mill Drive, Columbus, OH 43026, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Jackie" sort="Cook, Jackie" uniqKey="Cook J" first="Jackie" last="Cook">Jackie Cook</name><affiliation><nlm:aff id="aff020"><addr-line>Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom</addr-line></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="aff021"><addr-line>Department of Clinical Oncology, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, United States of America</addr-line></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="aff007"><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></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="aff022"><addr-line>Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="De Pauw, Antoine" sort="De Pauw, Antoine" uniqKey="De Pauw A" first="Antoine" last="De Pauw">Antoine De Pauw</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Delnatte, Capucine" sort="Delnatte, Capucine" uniqKey="Delnatte C" first="Capucine" last="Delnatte">Capucine Delnatte</name><affiliation><nlm:aff id="aff023"><addr-line>Unité d'oncogénétique, ICO-Centre René Gauducheau, Boulevard Jacques Monod, 44805 Nantes Saint Herblain Cedex, France</addr-line></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="aff024"><addr-line>Oncogenetics Group, Vall d’Hebron University Hospital, Vall d’Hebron Institute of Oncology (VHIO), and Universitat Autònoma, Passeig Vall d'Hebron 119–129, Barcelona, Spain</addr-line></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="aff025"><addr-line>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dumont, Martine" sort="Dumont, Martine" uniqKey="Dumont M" first="Martine" last="Dumont">Martine Dumont</name><affiliation><nlm:aff id="aff026"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Durda, Katarzyna" sort="Durda, Katarzyna" uniqKey="Durda K" first="Katarzyna" last="Durda">Katarzyna Durda</name><affiliation><nlm:aff id="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dworniczak, Bernd" sort="Dworniczak, Bernd" uniqKey="Dworniczak B" first="Bernd" last="Dworniczak">Bernd Dworniczak</name><affiliation><nlm:aff id="aff028"><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</addr-line></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="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></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="aff029"><addr-line>University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust, Southampton, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Edwinsdotter Ardnor, Christina" sort="Edwinsdotter Ardnor, Christina" uniqKey="Edwinsdotter Ardnor C" first="Christina" last="Edwinsdotter Ardnor">Christina Edwinsdotter Ardnor</name><affiliation><nlm:aff id="aff030"><addr-line>Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden</addr-line></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="aff031"><addr-line>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, United Kingdom</addr-line></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="aff032"><addr-line>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="aff033"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D. Gareth" last="Evans">D. Gareth Evans</name><affiliation><nlm:aff id="aff034"><addr-line>Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom</addr-line></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="aff035"><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199–203, 08908 L'Hospitalet, Barcelona, Spain</addr-line></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="aff036"><addr-line>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos", Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece</addr-line></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="aff037"><addr-line>Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada</addr-line></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="aff038"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel</addr-line></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="aff033"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gaddam, Pragna" sort="Gaddam, Pragna" uniqKey="Gaddam P" first="Pragna" last="Gaddam">Pragna Gaddam</name><affiliation><nlm:aff id="aff039"><addr-line>Clinical Cancer Genetics Laboratory, Memorial Sloane Kettering Cancer Center, New York, NY, United States of America</addr-line></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="aff040"><addr-line>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, United States of America</addr-line></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="aff041"><addr-line>Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Garcia Barberan, Vanesa" sort="Garcia Barberan, Vanesa" uniqKey="Garcia Barberan V" first="Vanesa" last="Garcia-Barberan">Vanesa Garcia-Barberan</name><affiliation><nlm:aff id="aff014"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name><affiliation><nlm:aff id="aff042"><addr-line>Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany</addr-line></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="aff043"><addr-line>Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, København Ø, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Giraud, Sophie" sort="Giraud, Sophie" uniqKey="Giraud S" first="Sophie" last="Giraud">Sophie Giraud</name><affiliation><nlm:aff id="aff044"><addr-line>Service de Génétique Moléculaire et Clinique, Hospices Civils de Lyon, Lyon cedex 04, France</addr-line></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="aff045"><addr-line>Department of Pathology and Laboratory Medicine, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, University of Kansas Medical Center, Kansas City, Kansas, United States of America</addr-line></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="aff046"><addr-line>Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hake, Christopher R" sort="Hake, Christopher R" uniqKey="Hake C" first="Christopher R." last="Hake">Christopher R. Hake</name><affiliation><nlm:aff id="aff047"><addr-line>City of Hope Clinical Cancer Genetics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010, United States of America</addr-line></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="aff048"><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="aff002"><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><nlm:aff id="aff049"><addr-line>Medical Genetics Unit, St George's, University of London, London, United Kingdom</addr-line></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="aff050"><addr-line>Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></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="aff051"><addr-line>Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201, United States of America</addr-line></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="aff052"><addr-line>N.N. Petrov Institute of Oncology, St.-Petersburg 197758, Russia</addr-line></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="aff053"><addr-line>Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, United States of America</addr-line></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="aff054"><addr-line>Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Izquierdo, Angel" sort="Izquierdo, Angel" uniqKey="Izquierdo A" first="Angel" last="Izquierdo">Angel Izquierdo</name><affiliation><nlm:aff id="aff055"><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Av. França s/n. 1707 Girona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jacobs, Lauren" sort="Jacobs, Lauren" uniqKey="Jacobs L" first="Lauren" last="Jacobs">Lauren Jacobs</name><affiliation><nlm:aff id="aff056"><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, United States of America</addr-line></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="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></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="aff057"><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Santariskiu st., State Research Institute Centre for Innovative medicine, Zygymantu st. 9, Vilnius, Lithuania</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jaworska Bieniek, Katarzyna" sort="Jaworska Bieniek, Katarzyna" uniqKey="Jaworska Bieniek K" first="Katarzyna" last="Jaworska-Bieniek">Katarzyna Jaworska-Bieniek</name><affiliation><nlm:aff id="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></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="aff058"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Aarhus N, Denmark</addr-line></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="aff059"><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue, Suite 300, Fremont, CA 94538, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="aff060"><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America</addr-line></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="aff061"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kast, Karin" sort="Kast, Karin" uniqKey="Kast K" first="Karin" last="Kast">Karin Kast</name><affiliation><nlm:aff id="aff062"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name><affiliation><nlm:aff id="aff063"><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name><affiliation><nlm:aff id="aff064"><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kwong, Ava" sort="Kwong, Ava" uniqKey="Kwong A" first="Ava" last="Kwong">Ava Kwong</name><affiliation><nlm:aff id="aff065"><addr-line>The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong China</addr-line></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="aff066"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, Israel</addr-line></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="aff061"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America</addr-line></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="aff067"><addr-line>Genetic Epidemiology of Cancer team, Inserm U900, Institut Curie, Mines ParisTech, 26 rue d'Ulm, 75248 Paris cedex 05, France</addr-line></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="aff068"><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name><affiliation><nlm:aff id="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="aff069"><addr-line>Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America</addr-line></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="aff070"><addr-line>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</addr-line></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="aff007"><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></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="aff071"><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R." last="Mensenkamp">Arjen R. Mensenkamp</name><affiliation><nlm:aff id="aff072"><addr-line>Department of Human Genetics, Radboud university medical centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands</addr-line></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="aff073"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV—IRCCS, Via Gattamelata 64, Padua, Italy</addr-line></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="aff025"><addr-line>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America</addr-line></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="aff074"><addr-line>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, United States of America</addr-line></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="aff064"><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Niederacher, Dieter" sort="Niederacher, Dieter" uniqKey="Niederacher D" first="Dieter" last="Niederacher">Dieter Niederacher</name><affiliation><nlm:aff id="aff075"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></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="aff076"><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></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="aff077"><addr-line>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago, IL 60637</addr-line></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="aff078"><addr-line>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom</addr-line></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="aff079"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></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="aff080"><addr-line>Department of Preventive Medicine, Seoul National University College of Medicine, Department of Biomedical Science, Seoul National University Graduate School, and Cancer Research Institute, Seoul National University, 103 Daehak-ro, Jongno-gu, Seoul 110–799, Korea</addr-line></nlm:aff></affiliation></author><author><name sortKey="Paulsson Karlsson, Ylva" sort="Paulsson Karlsson, Ylva" uniqKey="Paulsson Karlsson Y" first="Ylva" last="Paulsson-Karlsson">Ylva Paulsson-Karlsson</name><affiliation><nlm:aff id="aff081"><addr-line>Department of Immunology, Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden</addr-line></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="aff082"><addr-line>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Aalborg, Denmark</addr-line></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="aff070"><addr-line>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</addr-line></nlm:aff></affiliation></author><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="aff083"><addr-line>IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO campus, via Adamello 16, 20139 Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pfeiler, Georg" sort="Pfeiler, Georg" uniqKey="Pfeiler G" first="Georg" last="Pfeiler">Georg Pfeiler</name><affiliation><nlm:aff id="aff084"><addr-line>Medical University of Vienna, Währinger Gürtel 18–20, 1090 Vienna, Austria</addr-line></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="aff085"><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Piedmonte, Marion" sort="Piedmonte, Marion" uniqKey="Piedmonte M" first="Marion" last="Piedmonte">Marion Piedmonte</name><affiliation><nlm:aff id="aff086"><addr-line>NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation><nlm:aff id="aff018"><addr-line>Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pujana, Miquel Angel" sort="Pujana, Miquel Angel" uniqKey="Pujana M" first="Miquel Angel" last="Pujana">Miquel Angel Pujana</name><affiliation><nlm:aff id="aff087"><addr-line>Translational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="aff088"><addr-line>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</addr-line></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="aff089"><addr-line>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., Haifa 34362, Israel</addr-line></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="aff090"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Univ of Chicago, 2650 Ridge Avenue Suite 1507 Walgreens, Evanston, IL 60201, United States of America</addr-line></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="aff091"><addr-line>Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ross, Eric A" sort="Ross, Eric A" uniqKey="Ross E" first="Eric A." last="Ross">Eric A. Ross</name><affiliation><nlm:aff id="aff092"><addr-line>Biostatistics and Bioinformatics Facility, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, United States of America</addr-line></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="aff093"><addr-line>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, Cologne, Germany</addr-line></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="aff026"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></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="aff094"><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18–20, A 1090 Vienna, Austria</addr-line></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="aff095"><addr-line>Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America</addr-line></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="aff026"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></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="aff096"><addr-line>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name><affiliation><nlm:aff id="aff097"><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></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="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></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="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></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="aff098"><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="aff099"><addr-line>National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5312, 50 South Drive, MSC 004, Bethesda, MD 20892–8004, United States of America</addr-line></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="aff094"><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18–20, A 1090 Vienna, Austria</addr-line></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="aff100"><addr-line>Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200–072 Porto, Portugal</addr-line></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="aff101"><addr-line>Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, Subang Jaya, 47500 Malaysia</addr-line></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="aff102"><addr-line>Department of Epidemiology, Columbia University, New York, NY, United States of America</addr-line></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="aff103"><addr-line>Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="aff104"><addr-line>UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Via O.Rossi 9, 21100 Varese, Italy</addr-line></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="aff105"><addr-line>Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia</addr-line></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="aff073"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV—IRCCS, Via Gattamelata 64, Padua, Italy</addr-line></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="aff106"><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia 0007, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="aff107"><addr-line>Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino—IST Istituto Nazionale per la Ricerca sul Cancro, largo Rosanna Benzi 10, 16132 Genoa, Italy</addr-line></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="aff108"><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vratimos, Athanassios" sort="Vratimos, Athanassios" uniqKey="Vratimos A" first="Athanassios" last="Vratimos">Athanassios Vratimos</name><affiliation><nlm:aff id="aff109"><addr-line>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos" Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Weitzel, Jeffrey N" sort="Weitzel, Jeffrey N" uniqKey="Weitzel J" first="Jeffrey N." last="Weitzel">Jeffrey N. Weitzel</name><affiliation><nlm:aff id="aff095"><addr-line>Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America</addr-line></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="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></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="aff110"><addr-line>Westmead Hospital, Familial Cancer Service, Hawkesbury Road, P.O. Box 533, Wentworthville, NSW 2145, Australia</addr-line></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="aff111"><addr-line>Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, United States of America</addr-line></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="aff112"><addr-line>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane" sort="Lindor, Noralane" uniqKey="Lindor N" first="Noralane" last="Lindor">Noralane Lindor</name><affiliation><nlm:aff id="aff113"><addr-line>Department of Health Sciences Research, Mayo Clinic, 13400 E. Scottsdale Blvd., Scottsdale, AZ, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ramus, Susan J" sort="Ramus, Susan J" uniqKey="Ramus S" first="Susan J." last="Ramus">Susan J. Ramus</name><affiliation><nlm:aff id="aff114"><addr-line>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, United States of America</addr-line></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="aff069"><addr-line>Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America</addr-line></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="aff115"><addr-line>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, United States of America</addr-line></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="aff116"><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D. P." last="Pharoah">Paul D. P. Pharoah</name><affiliation><nlm:aff id="aff117"><addr-line>Department of Oncology, University of Cambridge, Cambridge, United Kingdom</addr-line></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="aff002"><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></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="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27463617</idno><idno type="pmc">4963094</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963094</idno><idno type="RBID">PMC:4963094</idno><idno type="doi">10.1371/journal.pone.0158801</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000624</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000624</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><author><name sortKey="Vigorito, Elena" sort="Vigorito, Elena" uniqKey="Vigorito E" first="Elena" last="Vigorito">Elena Vigorito</name><affiliation><nlm:aff id="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kuchenbaecker, Karoline B" sort="Kuchenbaecker, Karoline B" uniqKey="Kuchenbaecker K" first="Karoline B." last="Kuchenbaecker">Karoline B. Kuchenbaecker</name><affiliation><nlm:aff id="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name><affiliation><nlm:aff id="aff002"><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></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="aff003"><addr-line>Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Agnarsson, Bjarni A" sort="Agnarsson, Bjarni A" uniqKey="Agnarsson B" first="Bjarni A." last="Agnarsson">Bjarni A. Agnarsson</name><affiliation><nlm:aff id="aff004"><addr-line>Department of Pathology, University Hospital (Landspitali) and University of Iceland School of Medicine, Hringbraut, 101 Reykjavik, Iceland</addr-line></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="aff005"><addr-line>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada</addr-line></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="aff006"><addr-line>Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, 1515 Pressler Street, CBP 5, Houston, TX, United States of America</addr-line></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="aff007"><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Belotti, Muriel" sort="Belotti, Muriel" uniqKey="Belotti M" first="Muriel" last="Belotti">Muriel Belotti</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></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="aff009"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain, and Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Berger, Andreas" sort="Berger, Andreas" uniqKey="Berger A" first="Andreas" last="Berger">Andreas Berger</name><affiliation><nlm:aff id="aff010"><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="aff011"><addr-line>Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, Vejle, Denmark</addr-line></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="aff012"><addr-line>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), via Ripamonti 435, 20141 Milan, Italy</addr-line></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="aff013"><addr-line>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldes">Trinidad Caldes</name><affiliation><nlm:aff id="aff014"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</addr-line></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="aff015"><addr-line>Section of Genetic Oncology, Dept. of Laboratory Medicine, University and University Hospital of Pisa, Pisa Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Campbell, Ian" sort="Campbell, Ian" uniqKey="Campbell I" first="Ian" last="Campbell">Ian Campbell</name><affiliation><nlm:aff id="aff016"><addr-line>Research Division, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett Street, Melbourne, VIC 8006, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chan, Salina B" sort="Chan, Salina B" uniqKey="Chan S" first="Salina B." last="Chan">Salina B. Chan</name><affiliation><nlm:aff id="aff017"><addr-line>1600 Divisadero Street, C415, San Francisco, CA 94143–1714, United States of America</addr-line></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="aff018"><addr-line>Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cohn, David E" sort="Cohn, David E" uniqKey="Cohn D" first="David E." last="Cohn">David E. Cohn</name><affiliation><nlm:aff id="aff019"><addr-line>Ohio State University Columbus Cancer Council GYN Oncology, 3651 Ridge Mill Drive, Columbus, OH 43026, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Jackie" sort="Cook, Jackie" uniqKey="Cook J" first="Jackie" last="Cook">Jackie Cook</name><affiliation><nlm:aff id="aff020"><addr-line>Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom</addr-line></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="aff021"><addr-line>Department of Clinical Oncology, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, United States of America</addr-line></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="aff007"><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></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="aff022"><addr-line>Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="De Pauw, Antoine" sort="De Pauw, Antoine" uniqKey="De Pauw A" first="Antoine" last="De Pauw">Antoine De Pauw</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Delnatte, Capucine" sort="Delnatte, Capucine" uniqKey="Delnatte C" first="Capucine" last="Delnatte">Capucine Delnatte</name><affiliation><nlm:aff id="aff023"><addr-line>Unité d'oncogénétique, ICO-Centre René Gauducheau, Boulevard Jacques Monod, 44805 Nantes Saint Herblain Cedex, France</addr-line></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="aff024"><addr-line>Oncogenetics Group, Vall d’Hebron University Hospital, Vall d’Hebron Institute of Oncology (VHIO), and Universitat Autònoma, Passeig Vall d'Hebron 119–129, Barcelona, Spain</addr-line></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="aff025"><addr-line>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dumont, Martine" sort="Dumont, Martine" uniqKey="Dumont M" first="Martine" last="Dumont">Martine Dumont</name><affiliation><nlm:aff id="aff026"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Durda, Katarzyna" sort="Durda, Katarzyna" uniqKey="Durda K" first="Katarzyna" last="Durda">Katarzyna Durda</name><affiliation><nlm:aff id="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dworniczak, Bernd" sort="Dworniczak, Bernd" uniqKey="Dworniczak B" first="Bernd" last="Dworniczak">Bernd Dworniczak</name><affiliation><nlm:aff id="aff028"><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</addr-line></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="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></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="aff029"><addr-line>University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust, Southampton, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Edwinsdotter Ardnor, Christina" sort="Edwinsdotter Ardnor, Christina" uniqKey="Edwinsdotter Ardnor C" first="Christina" last="Edwinsdotter Ardnor">Christina Edwinsdotter Ardnor</name><affiliation><nlm:aff id="aff030"><addr-line>Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden</addr-line></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="aff031"><addr-line>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, United Kingdom</addr-line></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="aff032"><addr-line>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="aff033"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D. Gareth" last="Evans">D. Gareth Evans</name><affiliation><nlm:aff id="aff034"><addr-line>Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom</addr-line></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="aff035"><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199–203, 08908 L'Hospitalet, Barcelona, Spain</addr-line></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="aff036"><addr-line>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos", Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece</addr-line></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="aff037"><addr-line>Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada</addr-line></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="aff038"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel</addr-line></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="aff033"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gaddam, Pragna" sort="Gaddam, Pragna" uniqKey="Gaddam P" first="Pragna" last="Gaddam">Pragna Gaddam</name><affiliation><nlm:aff id="aff039"><addr-line>Clinical Cancer Genetics Laboratory, Memorial Sloane Kettering Cancer Center, New York, NY, United States of America</addr-line></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="aff040"><addr-line>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, United States of America</addr-line></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="aff041"><addr-line>Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Garcia Barberan, Vanesa" sort="Garcia Barberan, Vanesa" uniqKey="Garcia Barberan V" first="Vanesa" last="Garcia-Barberan">Vanesa Garcia-Barberan</name><affiliation><nlm:aff id="aff014"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name><affiliation><nlm:aff id="aff042"><addr-line>Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany</addr-line></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="aff043"><addr-line>Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, København Ø, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Giraud, Sophie" sort="Giraud, Sophie" uniqKey="Giraud S" first="Sophie" last="Giraud">Sophie Giraud</name><affiliation><nlm:aff id="aff044"><addr-line>Service de Génétique Moléculaire et Clinique, Hospices Civils de Lyon, Lyon cedex 04, France</addr-line></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="aff045"><addr-line>Department of Pathology and Laboratory Medicine, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, University of Kansas Medical Center, Kansas City, Kansas, United States of America</addr-line></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="aff046"><addr-line>Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hake, Christopher R" sort="Hake, Christopher R" uniqKey="Hake C" first="Christopher R." last="Hake">Christopher R. Hake</name><affiliation><nlm:aff id="aff047"><addr-line>City of Hope Clinical Cancer Genetics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010, United States of America</addr-line></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="aff048"><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="aff002"><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><nlm:aff id="aff049"><addr-line>Medical Genetics Unit, St George's, University of London, London, United Kingdom</addr-line></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="aff050"><addr-line>Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation><nlm:aff id="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></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="aff051"><addr-line>Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201, United States of America</addr-line></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="aff052"><addr-line>N.N. Petrov Institute of Oncology, St.-Petersburg 197758, Russia</addr-line></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="aff053"><addr-line>Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, United States of America</addr-line></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="aff054"><addr-line>Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Izquierdo, Angel" sort="Izquierdo, Angel" uniqKey="Izquierdo A" first="Angel" last="Izquierdo">Angel Izquierdo</name><affiliation><nlm:aff id="aff055"><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Av. França s/n. 1707 Girona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jacobs, Lauren" sort="Jacobs, Lauren" uniqKey="Jacobs L" first="Lauren" last="Jacobs">Lauren Jacobs</name><affiliation><nlm:aff id="aff056"><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, United States of America</addr-line></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="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></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="aff057"><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Santariskiu st., State Research Institute Centre for Innovative medicine, Zygymantu st. 9, Vilnius, Lithuania</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jaworska Bieniek, Katarzyna" sort="Jaworska Bieniek, Katarzyna" uniqKey="Jaworska Bieniek K" first="Katarzyna" last="Jaworska-Bieniek">Katarzyna Jaworska-Bieniek</name><affiliation><nlm:aff id="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></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="aff058"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Aarhus N, Denmark</addr-line></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="aff059"><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue, Suite 300, Fremont, CA 94538, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="aff060"><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America</addr-line></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="aff061"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kast, Karin" sort="Kast, Karin" uniqKey="Kast K" first="Karin" last="Kast">Karin Kast</name><affiliation><nlm:aff id="aff062"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name><affiliation><nlm:aff id="aff063"><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name><affiliation><nlm:aff id="aff064"><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kwong, Ava" sort="Kwong, Ava" uniqKey="Kwong A" first="Ava" last="Kwong">Ava Kwong</name><affiliation><nlm:aff id="aff065"><addr-line>The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong China</addr-line></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="aff066"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, Israel</addr-line></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="aff061"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America</addr-line></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="aff067"><addr-line>Genetic Epidemiology of Cancer team, Inserm U900, Institut Curie, Mines ParisTech, 26 rue d'Ulm, 75248 Paris cedex 05, France</addr-line></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="aff068"><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name><affiliation><nlm:aff id="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name><affiliation><nlm:aff id="aff069"><addr-line>Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America</addr-line></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="aff070"><addr-line>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</addr-line></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="aff007"><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></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="aff071"><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R." last="Mensenkamp">Arjen R. Mensenkamp</name><affiliation><nlm:aff id="aff072"><addr-line>Department of Human Genetics, Radboud university medical centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands</addr-line></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="aff073"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV—IRCCS, Via Gattamelata 64, Padua, Italy</addr-line></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="aff025"><addr-line>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America</addr-line></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="aff074"><addr-line>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, United States of America</addr-line></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="aff064"><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Niederacher, Dieter" sort="Niederacher, Dieter" uniqKey="Niederacher D" first="Dieter" last="Niederacher">Dieter Niederacher</name><affiliation><nlm:aff id="aff075"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></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="aff076"><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></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="aff077"><addr-line>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago, IL 60637</addr-line></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="aff078"><addr-line>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom</addr-line></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="aff079"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></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="aff080"><addr-line>Department of Preventive Medicine, Seoul National University College of Medicine, Department of Biomedical Science, Seoul National University Graduate School, and Cancer Research Institute, Seoul National University, 103 Daehak-ro, Jongno-gu, Seoul 110–799, Korea</addr-line></nlm:aff></affiliation></author><author><name sortKey="Paulsson Karlsson, Ylva" sort="Paulsson Karlsson, Ylva" uniqKey="Paulsson Karlsson Y" first="Ylva" last="Paulsson-Karlsson">Ylva Paulsson-Karlsson</name><affiliation><nlm:aff id="aff081"><addr-line>Department of Immunology, Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden</addr-line></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="aff082"><addr-line>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Aalborg, Denmark</addr-line></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="aff070"><addr-line>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</addr-line></nlm:aff></affiliation></author><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="aff083"><addr-line>IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO campus, via Adamello 16, 20139 Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pfeiler, Georg" sort="Pfeiler, Georg" uniqKey="Pfeiler G" first="Georg" last="Pfeiler">Georg Pfeiler</name><affiliation><nlm:aff id="aff084"><addr-line>Medical University of Vienna, Währinger Gürtel 18–20, 1090 Vienna, Austria</addr-line></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="aff085"><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Piedmonte, Marion" sort="Piedmonte, Marion" uniqKey="Piedmonte M" first="Marion" last="Piedmonte">Marion Piedmonte</name><affiliation><nlm:aff id="aff086"><addr-line>NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation><nlm:aff id="aff018"><addr-line>Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pujana, Miquel Angel" sort="Pujana, Miquel Angel" uniqKey="Pujana M" first="Miquel Angel" last="Pujana">Miquel Angel Pujana</name><affiliation><nlm:aff id="aff087"><addr-line>Translational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="aff088"><addr-line>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</addr-line></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="aff089"><addr-line>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., Haifa 34362, Israel</addr-line></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="aff090"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Univ of Chicago, 2650 Ridge Avenue Suite 1507 Walgreens, Evanston, IL 60201, United States of America</addr-line></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="aff091"><addr-line>Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ross, Eric A" sort="Ross, Eric A" uniqKey="Ross E" first="Eric A." last="Ross">Eric A. Ross</name><affiliation><nlm:aff id="aff092"><addr-line>Biostatistics and Bioinformatics Facility, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, United States of America</addr-line></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="aff093"><addr-line>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, Cologne, Germany</addr-line></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="aff026"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></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="aff094"><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18–20, A 1090 Vienna, Austria</addr-line></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="aff095"><addr-line>Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America</addr-line></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="aff026"><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></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="aff096"><addr-line>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name><affiliation><nlm:aff id="aff097"><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></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="aff008"><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></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="aff027"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></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="aff098"><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="aff099"><addr-line>National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5312, 50 South Drive, MSC 004, Bethesda, MD 20892–8004, United States of America</addr-line></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="aff094"><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18–20, A 1090 Vienna, Austria</addr-line></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="aff100"><addr-line>Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200–072 Porto, Portugal</addr-line></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="aff101"><addr-line>Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, Subang Jaya, 47500 Malaysia</addr-line></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="aff102"><addr-line>Department of Epidemiology, Columbia University, New York, NY, United States of America</addr-line></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="aff103"><addr-line>Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="aff104"><addr-line>UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Via O.Rossi 9, 21100 Varese, Italy</addr-line></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="aff105"><addr-line>Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia</addr-line></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="aff073"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV—IRCCS, Via Gattamelata 64, Padua, Italy</addr-line></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="aff106"><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia 0007, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="aff107"><addr-line>Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino—IST Istituto Nazionale per la Ricerca sul Cancro, largo Rosanna Benzi 10, 16132 Genoa, Italy</addr-line></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="aff108"><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vratimos, Athanassios" sort="Vratimos, Athanassios" uniqKey="Vratimos A" first="Athanassios" last="Vratimos">Athanassios Vratimos</name><affiliation><nlm:aff id="aff109"><addr-line>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos" Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Weitzel, Jeffrey N" sort="Weitzel, Jeffrey N" uniqKey="Weitzel J" first="Jeffrey N." last="Weitzel">Jeffrey N. Weitzel</name><affiliation><nlm:aff id="aff095"><addr-line>Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America</addr-line></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="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></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="aff110"><addr-line>Westmead Hospital, Familial Cancer Service, Hawkesbury Road, P.O. Box 533, Wentworthville, NSW 2145, Australia</addr-line></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="aff111"><addr-line>Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, United States of America</addr-line></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="aff112"><addr-line>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane" sort="Lindor, Noralane" uniqKey="Lindor N" first="Noralane" last="Lindor">Noralane Lindor</name><affiliation><nlm:aff id="aff113"><addr-line>Department of Health Sciences Research, Mayo Clinic, 13400 E. Scottsdale Blvd., Scottsdale, AZ, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ramus, Susan J" sort="Ramus, Susan J" uniqKey="Ramus S" first="Susan J." last="Ramus">Susan J. Ramus</name><affiliation><nlm:aff id="aff114"><addr-line>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, United States of America</addr-line></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="aff069"><addr-line>Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America</addr-line></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="aff115"><addr-line>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, United States of America</addr-line></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="aff116"><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D. P." last="Pharoah">Paul D. P. Pharoah</name><affiliation><nlm:aff id="aff117"><addr-line>Department of Oncology, University of Cambridge, Cambridge, United Kingdom</addr-line></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="aff002"><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></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="aff001"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) <italic>BRCA1</italic> and 8,211 (631 ovarian cancer cases) <italic>BRCA2</italic> mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in <italic>BRCA</italic>1 and <italic>BRCA</italic> 2 mutation carriers respectively, within a retrospective cohort analytical framework. In <italic>BRCA1</italic> mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of <italic>BNC2</italic>. In <italic>BRCA2</italic> mutation carriers one region, up to 45 kb upstream of <italic>BNC2</italic>, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in <italic>BRCA1</italic> mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the <italic>BNC2</italic> transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in <italic>BRCA1</italic> mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Jervis, S" uniqKey="Jervis S">S Jervis</name></author><author><name sortKey="Song, H" uniqKey="Song H">H Song</name></author><author><name sortKey="Lee, A" uniqKey="Lee A">A Lee</name></author><author><name sortKey="Dicks, E" uniqKey="Dicks E">E Dicks</name></author><author><name sortKey="Tyrer, J" uniqKey="Tyrer J">J Tyrer</name></author><author><name sortKey="Harrington, P" uniqKey="Harrington P">P Harrington</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Antoniou, A" uniqKey="Antoniou A">A Antoniou</name></author><author><name sortKey="Pharoah, Pdp" uniqKey="Pharoah P">PDP Pharoah</name></author><author><name sortKey="Narod, S" uniqKey="Narod S">S Narod</name></author><author><name sortKey="Risch, Ha" uniqKey="Risch H">HA 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<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id><journal-id journal-id-type="iso-abbrev">PLoS ONE</journal-id><journal-id journal-id-type="publisher-id">plos</journal-id><journal-id journal-id-type="pmc">plosone</journal-id><journal-title-group><journal-title>PLoS ONE</journal-title></journal-title-group><issn pub-type="epub">1932-6203</issn><publisher><publisher-name>Public Library of Science</publisher-name><publisher-loc>San Francisco, CA USA</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27463617</article-id><article-id pub-id-type="pmc">4963094</article-id><article-id pub-id-type="doi">10.1371/journal.pone.0158801</article-id><article-id pub-id-type="publisher-id">PONE-D-16-10426</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Medicine and Health Sciences</subject><subj-group><subject>Oncology</subject><subj-group><subject>Cancers and Neoplasms</subject><subj-group><subject>Gynecological Tumors</subject><subj-group><subject>Ovarian Cancer</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Mutation</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Computational Biology</subject><subj-group><subject>Genome Analysis</subject><subj-group><subject>Genome-Wide Association Studies</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Genomics</subject><subj-group><subject>Genome Analysis</subject><subj-group><subject>Genome-Wide Association Studies</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Human Genetics</subject><subj-group><subject>Genome-Wide Association Studies</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Research and Analysis Methods</subject><subj-group><subject>Mathematical and Statistical Techniques</subject><subj-group><subject>Statistical Methods</subject><subj-group><subject>Meta-Analysis</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Physical Sciences</subject><subj-group><subject>Mathematics</subject><subj-group><subject>Statistics (Mathematics)</subject><subj-group><subject>Statistical Methods</subject><subj-group><subject>Meta-Analysis</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Medicine and Health Sciences</subject><subj-group><subject>Oncology</subject><subj-group><subject>Basic Cancer Research</subject><subj-group><subject>Cancer Genomics</subject></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Genomics</subject><subj-group><subject>Genomic Medicine</subject><subj-group><subject>Cancer Genomics</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Heredity</subject><subj-group><subject>Genetic Mapping</subject><subj-group><subject>Variant Genotypes</subject></subj-group></subj-group></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Medicine and Health Sciences</subject><subj-group><subject>Diagnostic Medicine</subject><subj-group><subject>Cancer Detection and Diagnosis</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Medicine and Health Sciences</subject><subj-group><subject>Oncology</subject><subj-group><subject>Cancer Detection and Diagnosis</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v3"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Genetic Loci</subject><subj-group><subject>Alleles</subject></subj-group></subj-group></subj-group></subj-group></article-categories><title-group><article-title>Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</article-title><alt-title alt-title-type="running-head">Fine-Scale Mapping at 9p22.2 in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutations Carriers</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Vigorito</surname><given-names>Elena</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kuchenbaecker</surname><given-names>Karoline B.</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Beesley</surname><given-names>Jonathan</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Adlard</surname><given-names>Julian</given-names></name><xref ref-type="aff" rid="aff003"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Agnarsson</surname><given-names>Bjarni 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Gareth</given-names></name><xref ref-type="aff" rid="aff034"><sup>34</sup></xref></contrib><contrib contrib-type="author"><name><surname>Feliubadalo</surname><given-names>Lidia</given-names></name><xref ref-type="aff" rid="aff035"><sup>35</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fostira</surname><given-names>Florentia</given-names></name><xref ref-type="aff" rid="aff036"><sup>36</sup></xref></contrib><contrib contrib-type="author"><name><surname>Foulkes</surname><given-names>William D.</given-names></name><xref ref-type="aff" rid="aff037"><sup>37</sup></xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Eitan</given-names></name><xref ref-type="aff" rid="aff038"><sup>38</sup></xref></contrib><contrib contrib-type="author"><name><surname>Frost</surname><given-names>Debra</given-names></name><xref ref-type="aff" rid="aff033"><sup>33</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gaddam</surname><given-names>Pragna</given-names></name><xref ref-type="aff" rid="aff039"><sup>39</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ganz</surname><given-names>Patricia A.</given-names></name><xref ref-type="aff" rid="aff040"><sup>40</sup></xref></contrib><contrib contrib-type="author"><name><surname>Garber</surname><given-names>Judy</given-names></name><xref ref-type="aff" rid="aff041"><sup>41</sup></xref></contrib><contrib contrib-type="author"><name><surname>Garcia-Barberan</surname><given-names>Vanesa</given-names></name><xref ref-type="aff" rid="aff014"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gauthier-Villars</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="aff008"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gehrig</surname><given-names>Andrea</given-names></name><xref ref-type="aff" rid="aff042"><sup>42</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gerdes</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="aff043"><sup>43</sup></xref></contrib><contrib contrib-type="author"><name><surname>Giraud</surname><given-names>Sophie</given-names></name><xref ref-type="aff" rid="aff044"><sup>44</sup></xref></contrib><contrib contrib-type="author"><name><surname>Godwin</surname><given-names>Andrew K.</given-names></name><xref ref-type="aff" rid="aff045"><sup>45</sup></xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E.</given-names></name><xref ref-type="aff" rid="aff046"><sup>46</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hake</surname><given-names>Christopher R.</given-names></name><xref ref-type="aff" rid="aff047"><sup>47</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hansen</surname><given-names>Thomas V. 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L.</given-names></name><xref ref-type="aff" rid="aff050"><sup>50</sup></xref></contrib><contrib contrib-type="author"><name><surname>Houdayer</surname><given-names>Claude</given-names></name><xref ref-type="aff" rid="aff008"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hulick</surname><given-names>Peter J.</given-names></name><xref ref-type="aff" rid="aff051"><sup>51</sup></xref></contrib><contrib contrib-type="author"><name><surname>Imyanitov</surname><given-names>Evgeny N.</given-names></name><xref ref-type="aff" rid="aff052"><sup>52</sup></xref></contrib><contrib contrib-type="author"><name><surname>Isaacs</surname><given-names>Claudine</given-names></name><xref ref-type="aff" rid="aff053"><sup>53</sup></xref></contrib><contrib contrib-type="author"><name><surname>Izatt</surname><given-names>Louise</given-names></name><xref ref-type="aff" rid="aff054"><sup>54</sup></xref></contrib><contrib contrib-type="author"><name><surname>Izquierdo</surname><given-names>Angel</given-names></name><xref ref-type="aff" rid="aff055"><sup>55</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jacobs</surname><given-names>Lauren</given-names></name><xref ref-type="aff" rid="aff056"><sup>56</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jakubowska</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="aff027"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Janavicius</surname><given-names>Ramunas</given-names></name><xref ref-type="aff" rid="aff057"><sup>57</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jaworska-Bieniek</surname><given-names>Katarzyna</given-names></name><xref ref-type="aff" rid="aff027"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Uffe Birk</given-names></name><xref ref-type="aff" rid="aff058"><sup>58</sup></xref></contrib><contrib contrib-type="author"><name><surname>John</surname><given-names>Esther M.</given-names></name><xref ref-type="aff" rid="aff059"><sup>59</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vijai</surname><given-names>Joseph</given-names></name><xref ref-type="aff" rid="aff060"><sup>60</sup></xref></contrib><contrib contrib-type="author"><name><surname>Karlan</surname><given-names>Beth Y.</given-names></name><xref ref-type="aff" rid="aff061"><sup>61</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kast</surname><given-names>Karin</given-names></name><xref ref-type="aff" rid="aff062"><sup>62</sup></xref></contrib><contrib contrib-type="author"><name><surname>Investigators</surname><given-names>KConFab</given-names></name><xref ref-type="aff" rid="aff063"><sup>63</sup></xref></contrib><contrib contrib-type="author"><name><surname>Khan</surname><given-names>Sofia</given-names></name><xref ref-type="aff" rid="aff064"><sup>64</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kwong</surname><given-names>Ava</given-names></name><xref ref-type="aff" rid="aff065"><sup>65</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laitman</surname><given-names>Yael</given-names></name><xref ref-type="aff" rid="aff066"><sup>66</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lester</surname><given-names>Jenny</given-names></name><xref ref-type="aff" rid="aff061"><sup>61</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lesueur</surname><given-names>Fabienne</given-names></name><xref ref-type="aff" rid="aff067"><sup>67</sup></xref></contrib><contrib contrib-type="author"><name><surname>Liljegren</surname><given-names>Annelie</given-names></name><xref ref-type="aff" rid="aff068"><sup>68</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lubinski</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="aff027"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mai</surname><given-names>Phuong L.</given-names></name><xref ref-type="aff" rid="aff069"><sup>69</sup></xref></contrib><contrib contrib-type="author"><name><surname>Manoukian</surname><given-names>Siranoush</given-names></name><xref ref-type="aff" rid="aff070"><sup>70</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mazoyer</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="aff007"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Meindl</surname><given-names>Alfons</given-names></name><xref ref-type="aff" rid="aff071"><sup>71</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mensenkamp</surname><given-names>Arjen R.</given-names></name><xref ref-type="aff" rid="aff072"><sup>72</sup></xref></contrib><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="aff073"><sup>73</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Katherine L.</given-names></name><xref ref-type="aff" rid="aff025"><sup>25</sup></xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L.</given-names></name><xref ref-type="aff" rid="aff074"><sup>74</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nevanlinna</surname><given-names>Heli</given-names></name><xref ref-type="aff" rid="aff064"><sup>64</sup></xref></contrib><contrib contrib-type="author"><name><surname>Niederacher</surname><given-names>Dieter</given-names></name><xref ref-type="aff" rid="aff075"><sup>75</sup></xref></contrib><contrib contrib-type="author"><name><surname>Olah</surname><given-names>Edith</given-names></name><xref ref-type="aff" rid="aff076"><sup>76</sup></xref></contrib><contrib contrib-type="author"><name><surname>Olopade</surname><given-names>Olufunmilayo I.</given-names></name><xref ref-type="aff" rid="aff077"><sup>77</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ong</surname><given-names>Kai-ren</given-names></name><xref ref-type="aff" rid="aff078"><sup>78</sup></xref></contrib><contrib contrib-type="author"><name><surname>Osorio</surname><given-names>Ana</given-names></name><xref ref-type="aff" rid="aff079"><sup>79</sup></xref></contrib><contrib contrib-type="author"><name><surname>Park</surname><given-names>Sue Kyung</given-names></name><xref ref-type="aff" rid="aff080"><sup>80</sup></xref></contrib><contrib contrib-type="author"><name><surname>Paulsson-Karlsson</surname><given-names>Ylva</given-names></name><xref ref-type="aff" rid="aff081"><sup>81</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pedersen</surname><given-names>Inge Sokilde</given-names></name><xref ref-type="aff" rid="aff082"><sup>82</sup></xref></contrib><contrib contrib-type="author"><name><surname>Peissel</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="aff070"><sup>70</sup></xref></contrib><contrib contrib-type="author"><name><surname>Peterlongo</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="aff083"><sup>83</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pfeiler</surname><given-names>Georg</given-names></name><xref ref-type="aff" rid="aff084"><sup>84</sup></xref></contrib><contrib contrib-type="author"><name><surname>Phelan</surname><given-names>Catherine M.</given-names></name><xref ref-type="aff" rid="aff085"><sup>85</sup></xref></contrib><contrib contrib-type="author"><name><surname>Piedmonte</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="aff086"><sup>86</sup></xref></contrib><contrib contrib-type="author"><name><surname>Poppe</surname><given-names>Bruce</given-names></name><xref ref-type="aff" rid="aff018"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pujana</surname><given-names>Miquel Angel</given-names></name><xref ref-type="aff" rid="aff087"><sup>87</sup></xref></contrib><contrib contrib-type="author"><name><surname>Radice</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rennert</surname><given-names>Gad</given-names></name><xref ref-type="aff" rid="aff089"><sup>89</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rodriguez</surname><given-names>Gustavo C.</given-names></name><xref ref-type="aff" rid="aff090"><sup>90</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rookus</surname><given-names>Matti A.</given-names></name><xref ref-type="aff" rid="aff091"><sup>91</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Eric A.</given-names></name><xref ref-type="aff" rid="aff092"><sup>92</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schmutzler</surname><given-names>Rita Katharina</given-names></name><xref ref-type="aff" rid="aff093"><sup>93</sup></xref></contrib><contrib contrib-type="author"><name><surname>Simard</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="aff026"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name><xref ref-type="aff" rid="aff094"><sup>94</sup></xref></contrib><contrib contrib-type="author"><name><surname>Slavin</surname><given-names>Thomas P.</given-names></name><xref ref-type="aff" rid="aff095"><sup>95</sup></xref></contrib><contrib contrib-type="author"><name><surname>Soucy</surname><given-names>Penny</given-names></name><xref ref-type="aff" rid="aff026"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Southey</surname><given-names>Melissa</given-names></name><xref ref-type="aff" rid="aff096"><sup>96</sup></xref></contrib><contrib contrib-type="author"><name><surname>Steinemann</surname><given-names>Doris</given-names></name><xref ref-type="aff" rid="aff097"><sup>97</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="aff008"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sukiennicki</surname><given-names>Grzegorz</given-names></name><xref ref-type="aff" rid="aff027"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sutter</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="aff098"><sup>98</sup></xref></contrib><contrib contrib-type="author"><name><surname>Szabo</surname><given-names>Csilla I.</given-names></name><xref ref-type="aff" rid="aff099"><sup>99</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tea</surname><given-names>Muy-Kheng</given-names></name><xref ref-type="aff" rid="aff094"><sup>94</sup></xref></contrib><contrib contrib-type="author"><name><surname>Teixeira</surname><given-names>Manuel R.</given-names></name><xref ref-type="aff" rid="aff100"><sup>100</sup></xref></contrib><contrib contrib-type="author"><name><surname>Teo</surname><given-names>Soo-Hwang</given-names></name><xref ref-type="aff" rid="aff101"><sup>101</sup></xref></contrib><contrib contrib-type="author"><name><surname>Terry</surname><given-names>Mary Beth</given-names></name><xref ref-type="aff" rid="aff102"><sup>102</sup></xref></contrib><contrib contrib-type="author"><name><surname>Thomassen</surname><given-names>Mads</given-names></name><xref ref-type="aff" rid="aff103"><sup>103</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tibiletti</surname><given-names>Maria Grazia</given-names></name><xref ref-type="aff" rid="aff104"><sup>104</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tihomirova</surname><given-names>Laima</given-names></name><xref ref-type="aff" rid="aff105"><sup>105</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tognazzo</surname><given-names>Silvia</given-names></name><xref ref-type="aff" rid="aff073"><sup>73</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Rensburg</surname><given-names>Elizabeth J.</given-names></name><xref ref-type="aff" rid="aff106"><sup>106</sup></xref></contrib><contrib contrib-type="author"><name><surname>Varesco</surname><given-names>Liliana</given-names></name><xref ref-type="aff" rid="aff107"><sup>107</sup></xref></contrib><contrib contrib-type="author"><name><surname>Varon-Mateeva</surname><given-names>Raymonda</given-names></name><xref ref-type="aff" rid="aff108"><sup>108</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vratimos</surname><given-names>Athanassios</given-names></name><xref ref-type="aff" rid="aff109"><sup>109</sup></xref></contrib><contrib contrib-type="author"><name><surname>Weitzel</surname><given-names>Jeffrey N.</given-names></name><xref ref-type="aff" rid="aff095"><sup>95</sup></xref></contrib><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kirk</surname><given-names>Judy</given-names></name><xref ref-type="aff" rid="aff110"><sup>110</sup></xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda Ewart</given-names></name><xref ref-type="aff" rid="aff111"><sup>111</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hamann</surname><given-names>Ute</given-names></name><xref ref-type="aff" rid="aff112"><sup>112</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lindor</surname><given-names>Noralane</given-names></name><xref ref-type="aff" rid="aff113"><sup>113</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ramus</surname><given-names>Susan J.</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Mark H.</given-names></name><xref ref-type="aff" rid="aff069"><sup>69</sup></xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="aff115"><sup>115</sup></xref></contrib><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Kenneth</given-names></name><xref ref-type="aff" rid="aff116"><sup>116</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pharoah</surname><given-names>Paul D. P.</given-names></name><xref ref-type="aff" rid="aff117"><sup>117</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref><xref ref-type="corresp" rid="cor001">*</xref></contrib></contrib-group><aff id="aff001"><label>1</label><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></aff><aff id="aff002"><label>2</label><addr-line>Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029</addr-line></aff><aff id="aff003"><label>3</label><addr-line>Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom</addr-line></aff><aff id="aff004"><label>4</label><addr-line>Department of Pathology, University Hospital (Landspitali) and University of Iceland School of Medicine, Hringbraut, 101 Reykjavik, Iceland</addr-line></aff><aff id="aff005"><label>5</label><addr-line>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada</addr-line></aff><aff id="aff006"><label>6</label><addr-line>Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, 1515 Pressler Street, CBP 5, Houston, TX, United States of America</addr-line></aff><aff id="aff007"><label>7</label><addr-line>Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France</addr-line></aff><aff id="aff008"><label>8</label><addr-line>Service de Génétique Oncologique, Institut Curie, 26, rue d’Ulm, Paris Cedex 05, France</addr-line></aff><aff id="aff009"><label>9</label><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain, and Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain</addr-line></aff><aff id="aff010"><label>10</label><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria</addr-line></aff><aff id="aff011"><label>11</label><addr-line>Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, Vejle, Denmark</addr-line></aff><aff id="aff012"><label>12</label><addr-line>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), via Ripamonti 435, 20141 Milan, Italy</addr-line></aff><aff id="aff013"><label>13</label><addr-line>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom</addr-line></aff><aff id="aff014"><label>14</label><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain</addr-line></aff><aff id="aff015"><label>15</label><addr-line>Section of Genetic Oncology, Dept. of Laboratory Medicine, University and University Hospital of Pisa, Pisa Italy</addr-line></aff><aff id="aff016"><label>16</label><addr-line>Research Division, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett Street, Melbourne, VIC 8006, Australia</addr-line></aff><aff id="aff017"><label>17</label><addr-line>1600 Divisadero Street, C415, San Francisco, CA 94143–1714, United States of America</addr-line></aff><aff id="aff018"><label>18</label><addr-line>Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium</addr-line></aff><aff id="aff019"><label>19</label><addr-line>Ohio State University Columbus Cancer Council GYN Oncology, 3651 Ridge Mill Drive, Columbus, OH 43026, United States of America</addr-line></aff><aff id="aff020"><label>20</label><addr-line>Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, United Kingdom</addr-line></aff><aff id="aff021"><label>21</label><addr-line>Department of Clinical Oncology, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, United States of America</addr-line></aff><aff id="aff022"><label>22</label><addr-line>Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, United Kingdom</addr-line></aff><aff id="aff023"><label>23</label><addr-line>Unité d'oncogénétique, ICO-Centre René Gauducheau, Boulevard Jacques Monod, 44805 Nantes Saint Herblain Cedex, France</addr-line></aff><aff id="aff024"><label>24</label><addr-line>Oncogenetics Group, Vall d’Hebron University Hospital, Vall d’Hebron Institute of Oncology (VHIO), and Universitat Autònoma, Passeig Vall d'Hebron 119–129, Barcelona, Spain</addr-line></aff><aff id="aff025"><label>25</label><addr-line>Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America</addr-line></aff><aff id="aff026"><label>26</label><addr-line>Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada</addr-line></aff><aff id="aff027"><label>27</label><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland</addr-line></aff><aff id="aff028"><label>28</label><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</addr-line></aff><aff id="aff029"><label>29</label><addr-line>University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust, Southampton, United Kingdom</addr-line></aff><aff id="aff030"><label>30</label><addr-line>Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden</addr-line></aff><aff id="aff031"><label>31</label><addr-line>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, United Kingdom</addr-line></aff><aff id="aff032"><label>32</label><addr-line>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark</addr-line></aff><aff id="aff033"><label>33</label><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom</addr-line></aff><aff id="aff034"><label>34</label><addr-line>Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom</addr-line></aff><aff id="aff035"><label>35</label><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199–203, 08908 L'Hospitalet, Barcelona, Spain</addr-line></aff><aff id="aff036"><label>36</label><addr-line>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos", Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece</addr-line></aff><aff id="aff037"><label>37</label><addr-line>Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada</addr-line></aff><aff id="aff038"><label>38</label><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel</addr-line></aff><aff id="aff039"><label>39</label><addr-line>Clinical Cancer Genetics Laboratory, Memorial Sloane Kettering Cancer Center, New York, NY, United States of America</addr-line></aff><aff id="aff040"><label>40</label><addr-line>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, United States of America</addr-line></aff><aff id="aff041"><label>41</label><addr-line>Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, United States of America</addr-line></aff><aff id="aff042"><label>42</label><addr-line>Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany</addr-line></aff><aff id="aff043"><label>43</label><addr-line>Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, København Ø, Denmark</addr-line></aff><aff id="aff044"><label>44</label><addr-line>Service de Génétique Moléculaire et Clinique, Hospices Civils de Lyon, Lyon cedex 04, France</addr-line></aff><aff id="aff045"><label>45</label><addr-line>Department of Pathology and Laboratory Medicine, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, University of Kansas Medical Center, Kansas City, Kansas, United States of America</addr-line></aff><aff id="aff046"><label>46</label><addr-line>Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132, United States of America</addr-line></aff><aff id="aff047"><label>47</label><addr-line>City of Hope Clinical Cancer Genetics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010, United States of America</addr-line></aff><aff id="aff048"><label>48</label><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark</addr-line></aff><aff id="aff049"><label>49</label><addr-line>Medical Genetics Unit, St George's, University of London, London, United Kingdom</addr-line></aff><aff id="aff050"><label>50</label><addr-line>Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands</addr-line></aff><aff id="aff051"><label>51</label><addr-line>Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201, United States of America</addr-line></aff><aff id="aff052"><label>52</label><addr-line>N.N. Petrov Institute of Oncology, St.-Petersburg 197758, Russia</addr-line></aff><aff id="aff053"><label>53</label><addr-line>Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, United States of America</addr-line></aff><aff id="aff054"><label>54</label><addr-line>Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom</addr-line></aff><aff id="aff055"><label>55</label><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Av. França s/n. 1707 Girona, Spain</addr-line></aff><aff id="aff056"><label>56</label><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, United States of America</addr-line></aff><aff id="aff057"><label>57</label><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Santariskiu st., State Research Institute Centre for Innovative medicine, Zygymantu st. 9, Vilnius, Lithuania</addr-line></aff><aff id="aff058"><label>58</label><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Aarhus N, Denmark</addr-line></aff><aff id="aff059"><label>59</label><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue, Suite 300, Fremont, CA 94538, United States of America</addr-line></aff><aff id="aff060"><label>60</label><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America</addr-line></aff><aff id="aff061"><label>61</label><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America</addr-line></aff><aff id="aff062"><label>62</label><addr-line>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></aff><aff id="aff063"><label>63</label><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></aff><aff id="aff064"><label>64</label><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland</addr-line></aff><aff id="aff065"><label>65</label><addr-line>The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong China</addr-line></aff><aff id="aff066"><label>66</label><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, Israel</addr-line></aff><aff id="aff067"><label>67</label><addr-line>Genetic Epidemiology of Cancer team, Inserm U900, Institut Curie, Mines ParisTech, 26 rue d'Ulm, 75248 Paris cedex 05, France</addr-line></aff><aff id="aff068"><label>68</label><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></aff><aff id="aff069"><label>69</label><addr-line>Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America</addr-line></aff><aff id="aff070"><label>70</label><addr-line>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</addr-line></aff><aff id="aff071"><label>71</label><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></aff><aff id="aff072"><label>72</label><addr-line>Department of Human Genetics, Radboud university medical centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands</addr-line></aff><aff id="aff073"><label>73</label><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV—IRCCS, Via Gattamelata 64, Padua, Italy</addr-line></aff><aff id="aff074"><label>74</label><addr-line>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, United States of America</addr-line></aff><aff id="aff075"><label>75</label><addr-line>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></aff><aff id="aff076"><label>76</label><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></aff><aff id="aff077"><label>77</label><addr-line>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago, IL 60637</addr-line></aff><aff id="aff078"><label>78</label><addr-line>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom</addr-line></aff><aff id="aff079"><label>79</label><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></aff><aff id="aff080"><label>80</label><addr-line>Department of Preventive Medicine, Seoul National University College of Medicine, Department of Biomedical Science, Seoul National University Graduate School, and Cancer Research Institute, Seoul National University, 103 Daehak-ro, Jongno-gu, Seoul 110–799, Korea</addr-line></aff><aff id="aff081"><label>81</label><addr-line>Department of Immunology, Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden</addr-line></aff><aff id="aff082"><label>82</label><addr-line>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Aalborg, Denmark</addr-line></aff><aff id="aff083"><label>83</label><addr-line>IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO campus, via Adamello 16, 20139 Milan, Italy</addr-line></aff><aff id="aff084"><label>84</label><addr-line>Medical University of Vienna, Währinger Gürtel 18–20, 1090 Vienna, Austria</addr-line></aff><aff id="aff085"><label>85</label><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America</addr-line></aff><aff id="aff086"><label>86</label><addr-line>NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263, United States of America</addr-line></aff><aff id="aff087"><label>87</label><addr-line>Translational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain</addr-line></aff><aff id="aff088"><label>88</label><addr-line>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</addr-line></aff><aff id="aff089"><label>89</label><addr-line>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., Haifa 34362, Israel</addr-line></aff><aff id="aff090"><label>90</label><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Univ of Chicago, 2650 Ridge Avenue Suite 1507 Walgreens, Evanston, IL 60201, United States of America</addr-line></aff><aff id="aff091"><label>91</label><addr-line>Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands</addr-line></aff><aff id="aff092"><label>92</label><addr-line>Biostatistics and Bioinformatics Facility, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, United States of America</addr-line></aff><aff id="aff093"><label>93</label><addr-line>Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, Cologne, Germany</addr-line></aff><aff id="aff094"><label>94</label><addr-line>Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18–20, A 1090 Vienna, Austria</addr-line></aff><aff id="aff095"><label>95</label><addr-line>Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America</addr-line></aff><aff id="aff096"><label>96</label><addr-line>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia</addr-line></aff><aff id="aff097"><label>97</label><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></aff><aff id="aff098"><label>98</label><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></aff><aff id="aff099"><label>99</label><addr-line>National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5312, 50 South Drive, MSC 004, Bethesda, MD 20892–8004, United States of America</addr-line></aff><aff id="aff100"><label>100</label><addr-line>Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200–072 Porto, Portugal</addr-line></aff><aff id="aff101"><label>101</label><addr-line>Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, Subang Jaya, 47500 Malaysia</addr-line></aff><aff id="aff102"><label>102</label><addr-line>Department of Epidemiology, Columbia University, New York, NY, United States of America</addr-line></aff><aff id="aff103"><label>103</label><addr-line>Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark</addr-line></aff><aff id="aff104"><label>104</label><addr-line>UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Via O.Rossi 9, 21100 Varese, Italy</addr-line></aff><aff id="aff105"><label>105</label><addr-line>Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia</addr-line></aff><aff id="aff106"><label>106</label><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia 0007, South Africa</addr-line></aff><aff id="aff107"><label>107</label><addr-line>Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino—IST Istituto Nazionale per la Ricerca sul Cancro, largo Rosanna Benzi 10, 16132 Genoa, Italy</addr-line></aff><aff id="aff108"><label>108</label><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</addr-line></aff><aff id="aff109"><label>109</label><addr-line>Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos" Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece</addr-line></aff><aff id="aff110"><label>110</label><addr-line>Westmead Hospital, Familial Cancer Service, Hawkesbury Road, P.O. Box 533, Wentworthville, NSW 2145, Australia</addr-line></aff><aff id="aff111"><label>111</label><addr-line>Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, United States of America</addr-line></aff><aff id="aff112"><label>112</label><addr-line>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany</addr-line></aff><aff id="aff113"><label>113</label><addr-line>Department of Health Sciences Research, Mayo Clinic, 13400 E. Scottsdale Blvd., Scottsdale, AZ, United States of America</addr-line></aff><aff id="aff114"><label>114</label><addr-line>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, United States of America</addr-line></aff><aff id="aff115"><label>115</label><addr-line>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, United States of America</addr-line></aff><aff id="aff116"><label>116</label><addr-line>Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America</addr-line></aff><aff id="aff117"><label>117</label><addr-line>Department of Oncology, University of Cambridge, Cambridge, United Kingdom</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Prokunina-Olsson</surname><given-names>Ludmila</given-names></name><role>Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1"><addr-line>National Cancer Institute, National Institutes of Health, UNITED STATES</addr-line></aff><author-notes><fn fn-type="conflict" id="coi001"><p><bold>Competing Interests: </bold>The authors have declared that no competing interests exist.</p></fn><fn fn-type="con" id="contrib001"><p>Analyzed the data: EV KBK ACA GCT SJR J. Beesley. Contributed reagents/materials/analysis tools: EV KBK J. Beesley JA BAA ILA BKA LB MB J. Benitez A. Berger A. Bojesen BB CB TC MAC IC SBC KBMC DEC JC MBD FD RD AdP CD OD SMD MD KD BD DFE DE CEA RE BE SE DGE LF FF WDF EF DF PG PAG JG VGB MGV AG AMG SG AKG DEG CRH TVOH S. Healey S. Hodgson FBLH CH PJH ENI CI LI AI LJ AJ RJ KJB UBJ EMJ JV BYK KK KConFab Investigators SK AK YL J. Lester FL AL J. Lubinski PLM S. Manoukian S. Mazoyer AM ARM MM KLN SLN HN DN EO OIO KrO AO SKP YPK ISP B. Peissel PP GP CMP MP B. Poppe MAP PR GR GCR MAR EAR RKS JS CFS TPS PS MS DS DSL GS CS CIS MKT MRT SHT MBT MT MGT LT ST EJvR LV RVM AV JNW LM JK AET UH NL SJR MHG FJC KO PDPP GCT ACA. Wrote the paper: EV KBK ACA GCT SJR J. Beesley. Supervised Initiated and coordinated CIMBA: GCT: Conceived and coordinated the synthesis of the iCOGS array: DFE. Coordinated iCOGS genotyping: KO FJC. CIMBA database management: LM.</p></fn><corresp id="cor001">* E-mail: <email>antonis@srl.cam.ac.uk</email></corresp></author-notes><pub-date pub-type="epub"><day>27</day><month>7</month><year>2016</year></pub-date><pub-date pub-type="collection"><year>2016</year></pub-date><volume>11</volume><issue>7</issue><elocation-id>e0158801</elocation-id><history><date date-type="received"><day>12</day><month>3</month><year>2016</year></date><date date-type="accepted"><day>22</day><month>6</month><year>2016</year></date></history><permissions><license xlink:href="https://creativecommons.org/publicdomain/zero/1.0/"><license-p>This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the <ext-link ext-link-type="uri" xlink:href="https://creativecommons.org/publicdomain/zero/1.0/">Creative Commons CC0</ext-link> public domain dedication.</license-p></license></permissions><self-uri content-type="pdf" xlink:href="pone.0158801.pdf"></self-uri><abstract><p>Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) <italic>BRCA1</italic> and 8,211 (631 ovarian cancer cases) <italic>BRCA2</italic> mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in <italic>BRCA</italic>1 and <italic>BRCA</italic> 2 mutation carriers respectively, within a retrospective cohort analytical framework. In <italic>BRCA1</italic> mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of <italic>BNC2</italic>. In <italic>BRCA2</italic> mutation carriers one region, up to 45 kb upstream of <italic>BNC2</italic>, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in <italic>BRCA1</italic> mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the <italic>BNC2</italic> transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in <italic>BRCA1</italic> mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.</p></abstract><funding-group><funding-statement>The CIMBA data management and data analysis were supported by Cancer Research – UK grants C12292/A11174 and C1287/A10118. EV was supported by an MRC Advanced Studentship award. Details of the funding of individual studies participating in CIMBA are included in S1 Text of the manuscript.</funding-statement></funding-group><counts><fig-count count="3"></fig-count><table-count count="3"></table-count><page-count count="19"></page-count></counts><custom-meta-group><custom-meta id="data-availability"><meta-name>Data Availability</meta-name><meta-value>All relevant data are within the paper and its Supporting Information files. The raw data are available through application to the CIMBA Data Access Coordinating Committee (<ext-link ext-link-type="uri" xlink:href="http://apps.ccge.medschl.cam.ac.uk/consortia/cimba/index.html">http://apps.ccge.medschl.cam.ac.uk/consortia/cimba/index.html</ext-link>) for researchers who meet the criteria for access to confidential data.</meta-value></custom-meta></custom-meta-group></article-meta><notes><title>Data Availability</title><p>All relevant data are within the paper and its Supporting Information files. The raw data are available through application to the CIMBA Data Access Coordinating Committee (<ext-link ext-link-type="uri" xlink:href="http://apps.ccge.medschl.cam.ac.uk/consortia/cimba/index.html">http://apps.ccge.medschl.cam.ac.uk/consortia/cimba/index.html</ext-link>) for researchers who meet the criteria for access to confidential data.</p></notes></front><body><sec sec-type="intro" id="sec001"><title>Introduction</title><p>Once age is taken into account, family history is the strongest risk factor for ovarian cancer. Women with a first-degree relative with ovarian cancer are at a 3-fold increased risk of developing the disease, indicating the importance of genetic factors in ovarian cancer predisposition. The most important genes in the context of genetic counseling for ovarian cancer susceptibility are <italic>BRCA1</italic> and <italic>BRCA2</italic>, which account for approximately 24% of the familial risk among first-degree relatives [<xref rid="pone.0158801.ref001" ref-type="bibr">1</xref>]. In contrast to the general population, in which the lifetime risk of developing ovarian carcinoma is 1.6% (average age at diagnosis 63 years), women carrying a <italic>BRCA1</italic> mutation have a lifetime risk of 35–60% with an average age of diagnosis of 50 years [<xref rid="pone.0158801.ref002" ref-type="bibr">2</xref>]. The ovarian cancer penetrance is lower for <italic>BRCA2</italic>, with a lifetime risk of 12–25% and an average age of diagnosis of 60 years [<xref rid="pone.0158801.ref002" ref-type="bibr">2</xref>]. The majority of <italic>BRCA1/2</italic> associated ovarian cancers present as high-grade serous histology in advanced stage [<xref rid="pone.0158801.ref003" ref-type="bibr">3</xref>].</p><p>Genome wide association studies have identified several common germline variants associated with ovarian cancer risk. The 9p22 locus was first found to be associated with ovarian cancer risk in the general population, and subsequently to be an ovarian cancer risk modifier in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers [<xref rid="pone.0158801.ref004" ref-type="bibr">4</xref>,<xref rid="pone.0158801.ref005" ref-type="bibr">5</xref>]. The SNP showing the strongest association in the general population was rs3814113, which was associated with a decrease in the risk of ovarian cancer in carriers of the minor allele (OR per allele = 0.82, 95%CI: 0.79 to 0.86, p-value = 5.1 × 10−19) [<xref rid="pone.0158801.ref005" ref-type="bibr">5</xref>] and had a similar association with ovarian cancer risk for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers [<xref rid="pone.0158801.ref004" ref-type="bibr">4</xref>]. rs3814113 lies in a 150-kb linkage disequilibrium (LD) block. The closest genes to rs3814113 are <italic>Basonuclin 2(BNC2)</italic> and <italic>Centlein (CNTLN)</italic>. <italic>BNC2</italic> is a zinc-finger protein spanning nucleotides 16409503 to 16870706. It is expressed in ovary, testis and the male germ line where it regulates cell cycle progression [<xref rid="pone.0158801.ref006" ref-type="bibr">6</xref>]. <italic>CNTLN</italic> spans nucleotides 17134982 to 17503923, it is ubiquitously expressed and localises at centrosomes to ensure centrosome function during cell division [<xref rid="pone.0158801.ref007" ref-type="bibr">7</xref>,<xref rid="pone.0158801.ref008" ref-type="bibr">8</xref>]. However, no fine-scale mapping of this locus has been reported yet in either the general population or in mutation carriers. Therefore, it is unclear which are the likely causal variants in the region.</p><p>Here, we report the fine-scale mapping of the 9p22.2 locus using data from 15252 <italic>BRCA1</italic> and 8211 <italic>BRCA2</italic> mutation carriers of European ancestry. We comprehensively characterized the associations of genetic variants in the region with ovarian cancer risk for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</p></sec><sec sec-type="materials|methods" id="sec002"><title>Materials and Methods</title><sec id="sec003"><title>Study Population</title><p>Epidemiological and genotype data were obtained from <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers participating in the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic> (CIMBA, [<xref rid="pone.0158801.ref009" ref-type="bibr">9</xref>]). Eligibility to CIMBA was restricted to women older than age 18 years who carried pathogenic mutations in the <italic>BRCA1</italic> or <italic>BRCA2</italic> genes. For each mutation carrier, date of birth, age at cancer diagnosis, age at bilateral prophylactic mastectomy and/or oophorectomy, age at interview or last follow-up, exact <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation description and self-reported ethnicity were recorded, together with tumor pathology, survival, treatment and other established lifestyle/hormonal risk factors for breast or ovarian cancer. Participants were recruited from 25 countries under ethically approved protocols and provided written informed consent.</p></sec><sec id="sec004"><title>Genotyping and Imputation</title><p>Genotyping was performed using the iCOGS Illumina array [<xref rid="pone.0158801.ref010" ref-type="bibr">10</xref>]. The quality control (QC) of the genotyping data has been described in detail previously [<xref rid="pone.0158801.ref011" ref-type="bibr">11</xref>,<xref rid="pone.0158801.ref012" ref-type="bibr">12</xref>]. The iCOGS array included SNPs for fine mapping of the 9p22.2 region. The fine mapping region was defined as Chromosome 9 positions: 16407967 to 17407967 (NCBI build 37). To select the SNPs for inclusion on iCOGS, we considered all variants with minor allele frequencies of >0.02 from the 1000 Genomes Project (March 2010 version) and selected SNPs that were correlated at r<sup>2</sup>>0.1 with the SNP that had been identified through the GWAS (rs3814113), and the set of SNPs that tagged all remaining SNPs in the region with r<sup>2</sup>>0.9. A total of 407 and 401 SNPs that were included on iCOGS in the 9p22.2 region passed QC and were available for the analyses for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, respectively. Imputation of genotypes was based on the phase 3 release of the 1000 Genome Project spanning nucleotides 16407967 to 17407967 (build 37) at chromosome 9 with a buffer region of 500bp, using IMPUTE2 v2 [<xref rid="pone.0158801.ref013" ref-type="bibr">13</xref>]. SNPs with an “info” metric lower than 0.3 were considered poorly imputed and excluded from downstream analyses. In addition, SNPs with a minor allele frequency (MAF) lower than 0.005 were excluded from the association analyses.</p></sec><sec id="sec005"><title>Statistical Analysis and Computational Methods</title><p>The primary analysis evaluated the association between each variant and ovarian cancer risk. To account for the non-random sampling of mutation carriers with respect to disease status, the analysis was conducted within a retrospective cohort framework by modeling the likelihood of the observed genotypes conditional on the disease phenotypes as previously described [<xref rid="pone.0158801.ref014" ref-type="bibr">14</xref>]. Each mutation carrier was followed until the first of: ovarian cancer diagnosis, risk-reducing salpingo-oophorectomy or age at last observation. Only those diagnosed with ovarian cancer were considered as cases. The effect of each SNP was modeled as a per-allele Hazard Ratio (HR). To account for related individuals in the sample, a kinship-adjusted version of the score test for association was used which accounts for the correlation between the genotypes of the relatives [<xref rid="pone.0158801.ref015" ref-type="bibr">15</xref>]. Analyses were carried out separately for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and all analyses were stratified by country of residence and year of birth. The USA and Canada strata were further subdivided by reported Ashkenazi Jewish ancestry.</p><p>Ovarian cancer associations were combined in a meta-analysis between <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. A fixed effect meta-analysis weighted by the inverse variance was conducted for imputed and genotyped SNPs when risk estimates were available in both datasets. For <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, logarithms of per-allele HR estimates were used. The Cochran Q test was carried out to assess heterogeneity.</p><p>To assess the number of variants independently associated with ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, each SNP was included in a Cox-regression model conditioned on the most strongly associated variant for each dataset and further adjusting by year of birth, and stratifying by country of residence. This approach has been shown to yield valid tests of association [<xref rid="pone.0158801.ref016" ref-type="bibr">16</xref>]. All SNPs with a MAF>0.005, and imputation accuracy higher than 0.3, were included. For single SNP associations, associations were considered significant if p<5x10<sup>-8</sup>. The most parsimonious model in the conditional analyses was identified using a threshold of p<10<sup>−4</sup> for retaining SNPs in the model.</p><p>The set of potential causal SNPs was defined by those SNPs for which their likelihood ratio relative to the most significant variant was equal or less than 100 and having a pair-wise correlation (<italic>r</italic>2) with the top SNP higher than 0.1 [<xref rid="pone.0158801.ref017" ref-type="bibr">17</xref>].</p><p>BEDTools was used to intersect positions of ovarian cancer risk-associated variants with functional genomic features generated by Coetzee et al [<xref rid="pone.0158801.ref018" ref-type="bibr">18</xref>] including FAIRE-seq identified regulatory elements and enhancers identified by histone modification ChIP-seq. Variants implicated by overlap were then queried with HaploReg v3 (<ext-link ext-link-type="uri" xlink:href="http://www.broadinstitute.org/mammals/haploreg/haploreg_v3.php">http://www.broadinstitute.org/mammals/haploreg/haploreg_v3.php</ext-link>).</p></sec><sec id="sec006"><title>Ethics statement</title><p>Each of the host institutions recruited under ethically approved protocols. A list of the local Institutional Review Boards that provided ethical approval for this study is given in <xref ref-type="supplementary-material" rid="pone.0158801.s002">S1 Table</xref>.</p></sec></sec><sec sec-type="results" id="sec007"><title>Results</title><sec id="sec008"><title>Association of the 9p22.2 Locus with Ovarian Cancer Risk in <italic>BRCA1</italic> Mutation Carriers</title><p>Data were available for 15,252 <italic>BRCA1</italic> mutation carriers of whom 2,462 were censored at ovarian cancer diagnosis (<xref ref-type="supplementary-material" rid="pone.0158801.s003">S2 Table</xref>). After quality control, data for 407 SNPs genotyped through the iCOGS array spanning chromosome 9 from positions 16424985 to 174 04464 (Genome built 37) were available. A further 36,769 SNPs were imputed using the 1000 Genome Project as reference panel. Of those, 4,873 had a MAF higher than 0.005 and were considered reliably imputed (IMPUTE2 "info" score > 0.3), and were included in the association analysis.</p><p>The strongest associated variant was the imputed SNP rs10124837 (per allele HR = 0.73; 95%CI = 0.68–0.79; p = 2.0×10−16, <xref ref-type="fig" rid="pone.0158801.g001">Fig 1A</xref>, <xref ref-type="table" rid="pone.0158801.t001">Table 1</xref> and <xref ref-type="supplementary-material" rid="pone.0158801.s002">S1 Table</xref>) located 12 kb upstream of <italic>BNC2</italic>. SNP rs3814113 that was originally identified through the GWAS demonstrated a weaker association (p = 5.2x10<sup>-13</sup>). The correlation between the top SNP and the rs3814113 was 0.56 (<xref ref-type="table" rid="pone.0158801.t002">Table 2</xref>). In total, 292 SNPs showed evidence of association with ovarian cancer risk (p: 10<sup>−4</sup> to 10<sup>−16</sup>, <xref ref-type="fig" rid="pone.0158801.g001">Fig 1A</xref>). The correlation between the top SNP and the SNPs in this set varied from 0.1 to 0.9 (<xref ref-type="fig" rid="pone.0158801.g001">Fig 1</xref>). Results for all SNPs are presented in <xref ref-type="supplementary-material" rid="pone.0158801.s004">S3 Table</xref>.</p><fig id="pone.0158801.g001" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0158801.g001</object-id><label>Fig 1</label><caption><title>Associations between SNPs in 9p22.2 with ovarian cancer risk for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</title><p>In each plot, the purple diamond corresponds to the strongest associated SNP and the colour code indicates the linkage disequilibrium with respect to this variant. Horizontal lines indicate the -log<sub>10</sub> p-value such that the SNPs above the line are the potential causal ones. This set was defined based on a likelihood ratio for a particular SNP as being less or equal than 100, relative to the most likely variant and r<sup>2</sup>>0.1. (A) <italic>BRCA1</italic> mutation carriers, (B) <italic>BRCA2</italic> mutation carriers.</p></caption><graphic xlink:href="pone.0158801.g001"></graphic></fig><table-wrap id="pone.0158801.t001" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0158801.t001</object-id><label>Table 1</label><caption><title>Associations between selected SNPs from 9p22.2 and ovarian cancer in <italic>BRCA1</italic>, <italic>BRCA2</italic> and combined analysis of <italic>BRCA1/2</italic> mutation carriers.</title></caption><alternatives><graphic id="pone.0158801.t001g" xlink:href="pone.0158801.t001"></graphic><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col></colgroup><thead><tr><th align="center" rowspan="1" colspan="1"></th><th align="center" rowspan="1" colspan="1"></th><th align="center" rowspan="1" colspan="1"></th><th align="center" rowspan="1" colspan="1"></th><th align="center" rowspan="1" colspan="1"></th><th align="center" rowspan="1" colspan="1"><italic>BNC2</italic></th><th align="center" colspan="5" rowspan="1"><italic>BRCA1</italic> (all 15252, affected 2462)</th><th align="center" colspan="5" rowspan="1"><italic>BRCA2</italic> (all 8211, affected 631)</th><th align="center" rowspan="1" colspan="1"></th><th align="center" colspan="3" rowspan="1"><italic>BRCA1/2</italic> meta-analysis</th></tr><tr><th align="center" rowspan="1" colspan="1">SNP</th><th align="center" rowspan="1" colspan="1">Position</th><th align="center" rowspan="1" colspan="1">R</th><th align="center" rowspan="1" colspan="1">E.</th><th align="center" rowspan="1" colspan="1">T</th><th align="center" rowspan="1" colspan="1">eSNP(p)</th><th align="center" rowspan="1" colspan="1">Info</th><th align="center" rowspan="1" colspan="1">MAF</th><th align="center" rowspan="1" colspan="1">HR</th><th align="center" rowspan="1" colspan="1">95%CI</th><th align="center" rowspan="1" colspan="1">p-value</th><th align="center" rowspan="1" colspan="1">Info</th><th align="center" rowspan="1" colspan="1">MAF</th><th align="center" rowspan="1" colspan="1">HR</th><th align="center" rowspan="1" colspan="1">95%CI</th><th align="center" rowspan="1" colspan="1">p-value</th><th align="center" rowspan="1" colspan="1">p-het</th><th align="center" rowspan="1" colspan="1">HR</th><th align="center" rowspan="1" colspan="1">95%CI</th><th align="center" rowspan="1" colspan="1">p-value</th></tr></thead><tbody><tr><td align="center" rowspan="1" colspan="1"><bold>rs10124837</bold></td><td align="center" rowspan="1" colspan="1">16891647</td><td align="center" rowspan="1" colspan="1">T</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">N</td><td align="center" rowspan="1" colspan="1">4.1E-06</td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.73</td><td align="center" rowspan="1" colspan="1">(0.79,0.68)</td><td align="center" rowspan="1" colspan="1"><bold>2.0E-16</bold></td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.23</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.85,0.64)</td><td align="center" rowspan="1" colspan="1">2.4E-05</td><td align="center" rowspan="1" colspan="1">0.90</td><td align="center" rowspan="1" colspan="1">0.73</td><td align="center" rowspan="1" colspan="1">(0.69,0.78)</td><td align="center" rowspan="1" colspan="1">7.5E-21</td></tr><tr><td align="center" rowspan="1" colspan="1"><bold>rs7046326</bold></td><td align="center" rowspan="1" colspan="1">16847520</td><td align="center" rowspan="1" colspan="1">G</td><td align="center" rowspan="1" colspan="1">A</td><td align="center" rowspan="1" colspan="1">Y</td><td align="center" rowspan="1" colspan="1">6.8E-06</td><td align="center" rowspan="1" colspan="1">0.99</td><td align="center" rowspan="1" colspan="1">0.25</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">2.9E-16</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.64,0.84)</td><td align="center" rowspan="1" colspan="1">1.3E-05</td><td align="center" rowspan="1" colspan="1">0.90</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1"><bold>6.2E-21</bold></td></tr><tr><td align="center" rowspan="1" colspan="1">rs4961501</td><td align="center" rowspan="1" colspan="1">16851678</td><td align="center" rowspan="1" colspan="1">G</td><td align="center" rowspan="1" colspan="1">T</td><td align="center" rowspan="1" colspan="1">N</td><td align="center" rowspan="1" colspan="1">NA</td><td align="center" rowspan="1" colspan="1">0.97</td><td align="center" rowspan="1" colspan="1">0.25</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.79,0.69)</td><td align="center" rowspan="1" colspan="1">3.8E-16</td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.84,0.64)</td><td align="center" rowspan="1" colspan="1">1.3E-05</td><td align="center" rowspan="1" colspan="1">1.00</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">7.8E-21</td></tr><tr><td align="center" rowspan="1" colspan="1">rs10810647</td><td align="center" rowspan="1" colspan="1">16853779</td><td align="center" rowspan="1" colspan="1">T</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">N</td><td align="center" rowspan="1" colspan="1">NA</td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.25</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.79,0.69)</td><td align="center" rowspan="1" colspan="1">4.4E-16</td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.73</td><td align="center" rowspan="1" colspan="1">(0.84,0.64)</td><td align="center" rowspan="1" colspan="1">1.1E-05</td><td align="center" rowspan="1" colspan="1">0.90</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">7.9E-21</td></tr><tr><td align="center" rowspan="1" colspan="1">rs10962662</td><td align="center" rowspan="1" colspan="1">16889937</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">A</td><td align="center" rowspan="1" colspan="1">Y</td><td align="center" rowspan="1" colspan="1">1.9E-06</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.68,0.79)</td><td align="center" rowspan="1" colspan="1">5.7E-16</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.23</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.64,0.85)</td><td align="center" rowspan="1" colspan="1">2.1E-05</td><td align="center" rowspan="1" colspan="1">0.90</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">1.9E-20</td></tr><tr><td align="center" rowspan="1" colspan="1">rs7868157</td><td align="center" rowspan="1" colspan="1">16851977</td><td align="center" rowspan="1" colspan="1">A</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">N</td><td align="center" rowspan="1" colspan="1">NA</td><td align="center" rowspan="1" colspan="1">0.97</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.79,0.69)</td><td align="center" rowspan="1" colspan="1">6.5E-16</td><td align="center" rowspan="1" colspan="1">0.94</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.85,0.64)</td><td align="center" rowspan="1" colspan="1">1.5E-05</td><td align="center" rowspan="1" colspan="1">1.00</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">1.6E-20</td></tr><tr><td align="center" rowspan="1" colspan="1">rs139555631</td><td align="center" rowspan="1" colspan="1">16890684</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">CTATT</td><td align="center" rowspan="1" colspan="1">N</td><td align="center" rowspan="1" colspan="1">NA</td><td align="center" rowspan="1" colspan="1">0.9</td><td align="center" rowspan="1" colspan="1">0.28</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.79,0.68)</td><td align="center" rowspan="1" colspan="1">9.7E-16</td><td align="center" rowspan="1" colspan="1">0.9</td><td align="center" rowspan="1" colspan="1">0.27</td><td align="center" rowspan="1" colspan="1">0.77</td><td align="center" rowspan="1" colspan="1">(0.88,0.67)</td><td align="center" rowspan="1" colspan="1">2.4E-04</td><td align="center" rowspan="1" colspan="1">0.54</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.7,0.79)</td><td align="center" rowspan="1" colspan="1">4.1E-19</td></tr><tr><td align="center" rowspan="1" colspan="1">rs10756823</td><td align="center" rowspan="1" colspan="1">16878616</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">A</td><td align="center" rowspan="1" colspan="1">N</td><td align="center" rowspan="1" colspan="1">2E-07</td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.24</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">1.0E-15</td><td align="center" rowspan="1" colspan="1">0.98</td><td align="center" rowspan="1" colspan="1">0.23</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.64,0.85)</td><td align="center" rowspan="1" colspan="1">1.8E-05</td><td align="center" rowspan="1" colspan="1">0.90</td><td align="center" rowspan="1" colspan="1">0.74</td><td align="center" rowspan="1" colspan="1">(0.69,0.79)</td><td align="center" rowspan="1" colspan="1">3.1E-20</td></tr><tr><td align="center" rowspan="1" colspan="1"><bold>rs62543585</bold></td><td align="center" rowspan="1" colspan="1">16906889</td><td align="center" rowspan="1" colspan="1">T</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">Y</td><td align="center" rowspan="1" colspan="1">NA</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.2</td><td align="center" rowspan="1" colspan="1">0.75</td><td align="center" rowspan="1" colspan="1">(0.69,0.81)</td><td align="center" rowspan="1" colspan="1">1.6E-12</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.19</td><td align="center" rowspan="1" colspan="1">0.69</td><td align="center" rowspan="1" colspan="1">(0.59,0.80)</td><td align="center" rowspan="1" colspan="1"><bold>1.0E-06</bold></td><td align="center" rowspan="1" colspan="1">0.55</td><td align="center" rowspan="1" colspan="1">0.72</td><td align="center" rowspan="1" colspan="1">(0.67,0.77)</td><td align="center" rowspan="1" colspan="1">1.6E-17</td></tr><tr><td align="center" rowspan="1" colspan="1"><bold>rs3814113</bold></td><td align="center" rowspan="1" colspan="1">16915021</td><td align="center" rowspan="1" colspan="1">T</td><td align="center" rowspan="1" colspan="1">C</td><td align="center" rowspan="1" colspan="1">Y</td><td align="center" rowspan="1" colspan="1">3.7E-07</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.33</td><td align="center" rowspan="1" colspan="1">0.78</td><td align="center" rowspan="1" colspan="1">(0.73,0.83)</td><td align="center" rowspan="1" colspan="1">5.2E-13</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.32</td><td align="center" rowspan="1" colspan="1">0.75</td><td align="center" rowspan="1" colspan="1">(0.66,0.85)</td><td align="center" rowspan="1" colspan="1">6.7E-06</td><td align="center" rowspan="1" colspan="1">0.37</td><td align="center" rowspan="1" colspan="1">0.76</td><td align="center" rowspan="1" colspan="1">(0.73,0.83)</td><td align="center" rowspan="1" colspan="1">7.5E-18</td></tr></tbody></table></alternatives><table-wrap-foot><fn id="t001fn001"><p>Selected SNPs correspond to the 8 strongest associated in <italic>BRCA1</italic> mutation carriers plus the strongest associated SNP in <italic>BRCA2</italic> mutation carriers and the initial GWAS hit rs3814113. SNPs indicated in bold indicate the strongest associated in <italic>BRCA1</italic> mutation carriers, the strongest associated in the <italic>BRCA1/2</italic> meta-analysis, in <italic>BRCA2</italic> mutation carriers and rs3814113. “R” and “E” correspond to reference and effector allele, respectively. “T” corresponds to genotyped, eSNP(p) displays the p-value for expressed Single Nucleotide Polymorphism association for the <italic>BNC2</italic> gene based on whole blood tissue extracted from GTEx Portal (<ext-link ext-link-type="uri" xlink:href="http://www.gtexportal.org/home/">http://www.gtexportal.org/home/</ext-link>). “Info” quantifies the accuracy of the imputation. “MAF”, “HR” and “CI” correspond to minor allele frequency, hazard ration and confidence interval, respectively. P-Het corresponds to the p-value for testing heterogeneity between <italic>BRCA1</italic> and <italic>BRCA2</italic> coefficients of association.</p></fn></table-wrap-foot></table-wrap><table-wrap id="pone.0158801.t002" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0158801.t002</object-id><label>Table 2</label><caption><title>Pairwise correlations (r<sup>2</sup>) between selected SNPs.</title><p>SNPs correspond to: rs10124837, the strongest associated in <italic>BRCA1</italic>; rs62543583, the strongest associated in <italic>BRCA2</italic> mutation carriers; rs7046326, the strongest associated in <italic>BRCA1/2</italic> meta-analysis; rs3814113, was the strongest associated variant in the initial GWAS analysis.</p></caption><alternatives><graphic id="pone.0158801.t002g" xlink:href="pone.0158801.t002"></graphic><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col></colgroup><thead><tr><th align="center" rowspan="1" colspan="1">SNP</th><th align="center" rowspan="1" colspan="1">rs10124837</th><th align="center" rowspan="1" colspan="1">rs62543583</th><th align="center" rowspan="1" colspan="1">rs7046326</th><th align="center" rowspan="1" colspan="1">rs3814113</th></tr></thead><tbody><tr><td align="center" rowspan="1" colspan="1">rs10124837</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.76</td><td align="center" rowspan="1" colspan="1">0.88</td><td align="center" rowspan="1" colspan="1">0.56</td></tr><tr><td align="center" rowspan="1" colspan="1">rs62543583</td><td align="center" rowspan="1" colspan="1">0.76</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.69</td><td align="center" rowspan="1" colspan="1">0.48</td></tr><tr><td align="center" rowspan="1" colspan="1">rs7046326</td><td align="center" rowspan="1" colspan="1">0.88</td><td align="center" rowspan="1" colspan="1">0.69</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">0.49</td></tr><tr><td align="center" rowspan="1" colspan="1">rs3814113</td><td align="center" rowspan="1" colspan="1">0.56</td><td align="center" rowspan="1" colspan="1">0.48</td><td align="center" rowspan="1" colspan="1">0.49</td><td align="center" rowspan="1" colspan="1">1</td></tr></tbody></table></alternatives></table-wrap></sec><sec id="sec009"><title>Association of the 9p22.2 Locus with Ovarian Cancer Risk in <italic>BRCA2</italic> Mutation Carriers</title><p>A total of 8,211 <italic>BRCA2</italic> mutation carriers were included in the analysis, of whom 631 were censored at ovarian cancer diagnosis (<xref ref-type="supplementary-material" rid="pone.0158801.s003">S2 Table</xref>). The association analysis included 5,020 SNPs (401 genotyped) with MAF>0.005 that were reliably imputed (IMPUTE2 "info" score greater than 0.3). The strongest associated SNP with ovarian cancer risk was rs62543585, with a MAF of 0.20 and a per-allele HR = 0.69 (95%CI = 0.59–0.80; p = 1.0 × 10−6, <xref ref-type="table" rid="pone.0158801.t001">Table 1</xref>). SNP rs3814113 demonstrated a slightly weaker association (p = 6.7x10<sup>-6</sup><xref ref-type="table" rid="pone.0158801.t001">Table 1</xref>, r<sup>2</sup> with SNP rs62543583 = 0.48, <xref ref-type="table" rid="pone.0158801.t002">Table 2</xref>). Although for BRCA2 mutation carriers the p-values did not reach GWAS statistical significance (5x10<sup>-8</sup>), given the strong prior evidence of association between SNPs in the region and risk for <italic>BRCA1</italic> carriers and in the general population we selected the most significant SNPs as associated with ovarian cancer risk. Results for all SNPs with p<0.01 are presented in <xref ref-type="supplementary-material" rid="pone.0158801.s004">S3 Table</xref>.</p></sec><sec id="sec010"><title>Meta-analysis of <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><p>Since the majority of both <italic>BRCA1</italic> and <italic>BRCA2</italic> ovarian cancer associated cancer tumors are high-grade serous ([<xref rid="pone.0158801.ref019" ref-type="bibr">19</xref>] and <xref ref-type="supplementary-material" rid="pone.0158801.s003">S2 Table</xref>) to increase the power of the association analyses, a meta-analysis combining HRs for the association of variants with ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> was conducted. Variants available in only one of the datasets were excluded from the analysis (40 removed from <italic>BRCA1</italic> and 187 from <italic>BRCA2</italic>). In the meta-analysis, the strongest associated variant was the genotyped SNP rs7046326 with a MAF of 0.25 and 0.24 in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, respectively. It displayed an HR = 0.74 (95%CI = 0.69–0.79; p = 6.2 × 10−21, <xref ref-type="table" rid="pone.0158801.t001">Table 1</xref> and <xref ref-type="fig" rid="pone.0158801.g002">Fig 2</xref>). The correlation with the top SNP in <italic>BRCA1</italic> mutation carriers was 0.88 and with the top SNP in <italic>BRCA2</italic> mutation carriers 0.69 (<xref ref-type="table" rid="pone.0158801.t002">Table 2</xref>). In addition, 148 SNPs reached genome wide significance (p < 5 × 10−8) for the association with ovarian cancer risk, including the original GWAS hit rs3814113 (<xref ref-type="fig" rid="pone.0158801.g002">Fig 2</xref>). No evidence for heterogeneity in the associations for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers was observed (Q-test, p-values >0.5, data not shown).</p><fig id="pone.0158801.g002" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0158801.g002</object-id><label>Fig 2</label><caption><title>Associations between SNPs in 9p22.2 with ovarian cancer risk for the meta-analysis of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</title><p>(A) The purple diamond corresponds to the strongest associated SNP and the colour code indicates the linkage disequilibrium with respect to this variant. Horizontal lines indicate the -log<sub>10</sub> p-value such that the SNPs above the line are the potential causal ones. This set was defined based on a likelihood ratio for a particular SNP as being less or equal than 100, relative to the most likely variant and r<sup>2</sup>>0.1. (B) Haplotype block indicating relevant SNPs. From left to right the indicated SNPs correspond to: the strongest associated in <italic>BRCA1/2</italic> meta-analysis, the strongest in <italic>BRCA1</italic> and the strongest in <italic>BRCA2</italic>.</p></caption><graphic xlink:href="pone.0158801.g002"></graphic></fig></sec><sec id="sec011"><title>Identifying Independent Signals for the Association of 9p22 and Ovarian Cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><p>In <italic>BRCA1</italic> mutation carriers, no variant displayed evidence of an association at a p <10−4 after analyses conditioning on rs10124837 (<xref ref-type="supplementary-material" rid="pone.0158801.s001">S1A Fig</xref>). The association with rs3814113, the original GWAS hit, became non-significant (p = 0.2) when rs10124837 was included as covariate in the model (<xref ref-type="supplementary-material" rid="pone.0158801.s001">S1A Fig</xref> and <xref ref-type="table" rid="pone.0158801.t003">Table 3</xref>). Similarly, in <italic>BRCA2</italic> mutation carriers no evidence of an association was observed for any variant after conditioning on rs62543585 (p >10−4 <xref ref-type="supplementary-material" rid="pone.0158801.s001">S1B Fig</xref>). Neither rs3814113 nor rs10124837 were significant at p<0.05 when rs62543585 was included as covariate in the model while the latter still displayed an association with p = 5x10<sup>-3</sup> (<xref ref-type="supplementary-material" rid="pone.0158801.s001">S1B Fig</xref> and <xref ref-type="table" rid="pone.0158801.t003">Table 3</xref>).</p><table-wrap id="pone.0158801.t003" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0158801.t003</object-id><label>Table 3</label><caption><title>Conditional associations for <italic>BRCA1</italic> and <italic>BRCA2</italic> top SNPs.</title><p><bold>The table shows the HR estimate. 95% CI and p-value for the conditional analysis adjusting for the lead SNP in the univariate analysis for <italic>BRCA1</italic> (left hand side) or <italic>BRCA2</italic> mutation carriers (right had side).</bold> SNPs correspond to: rs10124837, the strongest associated in <italic>BRCA1</italic>; rs62543583, the strongest associated in <italic>BRCA2</italic> mutation carriers; rs7046326, the strongest associated in <italic>BRCA1/2</italic> meta-analysis; rs3814113, was the strongest associated variant in the initial GWAS analysis. “HR”, hazard ratio; “CI”, confidence interval.</p></caption><alternatives><graphic id="pone.0158801.t003g" xlink:href="pone.0158801.t003"></graphic><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col><col align="left" valign="middle" span="1"></col></colgroup><thead><tr><th align="left" rowspan="1" colspan="1"> </th><th align="center" colspan="3" rowspan="1"><italic>BRCA1</italic> (adj. rs10124837)</th><th align="center" colspan="3" rowspan="1"><italic>BRCA2</italic> (adj. rs62543583)</th></tr><tr><th align="left" rowspan="1" colspan="1">SNP</th><th align="center" rowspan="1" colspan="1">HR</th><th align="center" rowspan="1" colspan="1">95%CI</th><th align="center" rowspan="1" colspan="1">p-value</th><th align="center" rowspan="1" colspan="1">HR</th><th align="center" rowspan="1" colspan="1">95%CI</th><th align="center" rowspan="1" colspan="1">p-value</th></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1">rs62543583</td><td align="center" rowspan="1" colspan="1">1.0</td><td align="center" rowspan="1" colspan="1">(0.76, 1.24)</td><td align="center" rowspan="1" colspan="1">0.99</td><td align="center" rowspan="1" colspan="1">0.67</td><td align="center" rowspan="1" colspan="1">(0.51, 0.88)</td><td align="center" rowspan="1" colspan="1">4.0x10<sup>-3</sup></td></tr><tr><td align="left" rowspan="1" colspan="1"> rs10124837</td><td align="center" rowspan="1" colspan="1">0.8</td><td align="center" rowspan="1" colspan="1">(0.72, 0.88)</td><td align="center" rowspan="1" colspan="1">9.0x10<sup>-5</sup></td><td align="center" rowspan="1" colspan="1">0.99</td><td align="center" rowspan="1" colspan="1">(0.78, 1.27)</td><td align="center" rowspan="1" colspan="1">0.96</td></tr><tr><td align="left" rowspan="1" colspan="1">rs62543583</td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1">0.75</td><td align="center" rowspan="1" colspan="1">(0.61, 0.92)</td><td align="center" rowspan="1" colspan="1">5.0x10<sup>-3</sup></td></tr><tr><td align="left" rowspan="1" colspan="1"> rs3814113</td><td align="center" rowspan="1" colspan="1"></td><td align="center" rowspan="1" colspan="1"></td><td align="center" rowspan="1" colspan="1"></td><td align="center" rowspan="1" colspan="1">0.87</td><td align="center" rowspan="1" colspan="1">(0.74, 1.03)</td><td align="center" rowspan="1" colspan="1">0.11</td></tr><tr><td align="left" rowspan="1" colspan="1"> rs10124837</td><td align="center" rowspan="1" colspan="1">0.8</td><td align="center" rowspan="1" colspan="1">(0.72, 0.88)</td><td align="center" rowspan="1" colspan="1">1.5x10<sup>-5</sup></td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td></tr><tr><td align="left" rowspan="1" colspan="1"> rs3814113</td><td align="center" rowspan="1" colspan="1">0.9</td><td align="center" rowspan="1" colspan="1">(0.86, 1.03)</td><td align="center" rowspan="1" colspan="1">0.20</td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td></tr></tbody></table></alternatives></table-wrap><p>Taken together, these results indicate that in both <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers there is only one peak of association with ovarian cancer risk at 9p22.</p><sec id="sec012"><title>Association of 9p22 and Ovarian Cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><p>SNPs with a likelihood ratio relative to the most significant variant greater than 100 and having an <italic>r</italic>2< 0.1 with the index SNP were excluded from being potentially causative. In <italic>BRCA1</italic> mutation carriers, this identified eight highly correlated SNPs (r<sup>2</sup>>0.8), referred hereafter as the "<italic>BRCA1</italic> peak". These variants clustered in a 20kb region around the transcription start site of <italic>BNC2</italic> (positions: 16,847,520–16,891,647). The SNPs in this set displayed MAFs of 0.24–0.28 and imputation accuracy higher than 0.95 and two out of the eight were genotyped (<xref ref-type="fig" rid="pone.0158801.g001">Fig 1A</xref> and <xref ref-type="table" rid="pone.0158801.t001">Table 1</xref> and <xref ref-type="supplementary-material" rid="pone.0158801.s005">S4 Table</xref>).</p><p>In <italic>BRCA2</italic> mutation carriers, 100 variants could not be rejected from being potentially causal. The MAFs for these SNPs varied from 0.15 to 0.34 and had pairwise correlations with the index SNP of greater than 0.4 (<xref ref-type="fig" rid="pone.0158801.g001">Fig 1B</xref>, <xref ref-type="supplementary-material" rid="pone.0158801.s005">S4 Table</xref>). The quality of imputation was >0.95 for all except two variants (info = 0.68 and 0.46, <xref ref-type="supplementary-material" rid="pone.0158801.s005">S4 Table</xref>).</p><p>All except one (imputed SNP rs139555631) of the likely causal variants in <italic>BRCA1</italic> mutation carriers were included in the set marking the potentially causal variants defined in <italic>BRCA2</italic> mutation carriers. However, none of them were ranked within the top 60 associated variants in <italic>BRCA2</italic> carriers. The index SNP (rs10124837 in <italic>BRCA1</italic> mutation carriers was in linkage disequilibrium with the index SNP (rs62543583) in <italic>BRCA2</italic> mutation carriers r<sup>2</sup> = 0.76, <xref ref-type="fig" rid="pone.0158801.g001">Fig 1</xref>, <xref ref-type="table" rid="pone.0158801.t002">Table 2</xref>).</p><p>The original GWAS hit, rs3814113, was within the set of the strongest associated SNPs in <italic>BRCA2</italic> mutation carriers, but was rejected from being potentially causal in <italic>BRCA1</italic> mutation carriers.</p><p>In the <italic>BRCA1/</italic>2 meta-analysis, eleven SNPs were the set of potentially causal variants, which included the eight identified in <italic>BRCA1</italic> plus three only present in the <italic>BRCA2</italic> set. These eleven variants were highly correlated with the lead SNP of the meta-analysis rs7046326 (<italic>r</italic>2>0.8). Of note, the set excluded the original GWAS hit rs3814113 (<xref ref-type="fig" rid="pone.0158801.g002">Fig 2</xref>, <xref ref-type="supplementary-material" rid="pone.0158801.s006">S5 Table</xref>).</p><p>Intersection of variants exhibiting the strongest associations with genomic features derived from cultured ovarian and fallopian tube cells revealed several SNPs that may be functionally relevant in influencing risk. <xref ref-type="fig" rid="pone.0158801.g003">Fig 3</xref> shows the location of the sets of SNPs associated with ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers relative to the <italic>BNC2</italic> gene. Several potentially functional variants are predicted, including SNPs that lie in regulatory regions identified by FAIRE- and ChIP-seq. For example, a cluster of eight SNPs from the <italic>BRCA2</italic> set of candidate causal variants lies within a ~10 kb region likely to carry regulatory activity encompassing the <italic>BNC2</italic> transcription start site. Multiple transcription factor motifs are altered by these variants (<xref ref-type="supplementary-material" rid="pone.0158801.s007">S6 Table</xref>). Although, no special features were observed for the variants in <italic>BRCA1</italic> or <italic>BRCA1/2</italic> meta-analysis (<xref ref-type="fig" rid="pone.0158801.g003">Fig 3</xref>), four of the eight candidate causal SNPs in <italic>BRCA1</italic> mutation carriers are expressed single nucleotide polymorphism (eSNP) for the <italic>BNC2</italic> gene in whole blood samples (<xref ref-type="table" rid="pone.0158801.t001">Table 1</xref>, data extracted from GTex Portal <ext-link ext-link-type="uri" xlink:href="http://www.gtexportal.org/home/">http://www.gtexportal.org/home/</ext-link>).</p><fig id="pone.0158801.g003" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0158801.g003</object-id><label>Fig 3</label><caption><title>Genomic features surrounding the 9p22.2 locus.</title><p>Illustration of the genomic region (chr9:16,839,835–16,924,468) encompassing peaks (shaded areas) containing candidate causal variants associated with ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Epigenomic data from Coetzee et al., (2015) [<xref rid="pone.0158801.ref020" ref-type="bibr">20</xref>] representing potential regulatory elements in ovarian cells (iOSE4 and iOSE11) and fallopian tube (FTSEC33) cells derived from formaldehyde assisted identification of regulatory elements sequencing (FAIRE-seq) and histone modification ChIP-seq are shown as black bars. Variants which overlap one of these features are coloured red. Data from the ENCODE project including histone modification ChIP-seq for three modifications (H3K4me1, H3K4me3, and H3K27ac) are shown as coloured histograms, as well as DNaseI hypersensitive site mapping and transcription factor ChIP-seq. The positions of all common SNPs from dbSNP build 142 are shown in the lowest track.</p></caption><graphic xlink:href="pone.0158801.g003"></graphic></fig></sec></sec></sec><sec sec-type="conclusions" id="sec013"><title>Discussion</title><p>In this study, we performed fine-scale mapping of the 9p22.2 locus using dense genotype data from the iCOGS array in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers of European ancestry. We identified a set of variants that provided stronger evidence of association than the original GWAS hit.</p><p>In <italic>BRCA1</italic> mutation carriers, one independent set of eight highly correlated (<italic>r</italic>2>0.8) SNPs could not be excluded as being potentially causal for the reported association with ovarian cancer, designated the "<italic>BRCA1</italic> peak". The <italic>BRCA1</italic> peak covers positions 16847520 to 16891647, which lie within or up to 20 kb upstream <italic>BNC2</italic>. Of note, the original GWAS hit rs3814113 was excluded from the candidate causal variants in this peak.</p><p>For <italic>BRCA2</italic> mutation carriers, 100 correlated variants (<italic>r</italic>2>0.4) could not be excluded as potentially causal ("<italic>BRCA2</italic> peak"). The <italic>BRCA2</italic> peak spanned positions 16847520 to 16915021, which are up to 44 kb upstream of <italic>BNC2</italic> and more than 200kb upstream of <italic>CNTLN</italic>. The increased number of variants in this case is most likely due to reduced statistical power, as the number of <italic>BRCA2</italic> mutation carriers diagnosed with ovarian cancer was only one quarter of the number of affected <italic>BRCA1</italic> carriers. The candidate causal SNPs in the <italic>BRCA1</italic> peak were mostly contained within the <italic>BRCA2</italic> peak but the strongest associated SNP in <italic>BRCA2</italic> was excluded from the <italic>BRCA1</italic> peak. The current analysis was underpowered to investigate whether the association in <italic>BRCA2</italic> mutation carriers is driven by a different set of genetic variants.</p><p>Under the model of one shared causal variant explaining the association in both <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, the meta-analysis would be expected to increase power for refining the set of potential causal variants. However, the combined analysis of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers defined a set of eleven variants as potentially causal, which corresponded to the eleven strongest associated variants in <italic>BRCA1</italic>. This set excluded rs3814113 that was reported in the ovarian cancer GWAS [<xref rid="pone.0158801.ref005" ref-type="bibr">5</xref>]. The set of candidate causal variants included three additional SNPs that were confidently discarded on the basis of being less than 100 times likely to be causal relative to the strongest associated SNP in the analysis of <italic>BRCA1</italic> carriers only.</p><p>Important differences emerged when we compared the patterns of association in the fine-scale mapping of 9p22.2 between <italic>BRCA1</italic> mutation carriers and results for the most strongly associated SNPs in samples from the general population.</p><p>Fine-mapping results based on iCOGS data from the Ovarian Cancer Association Consortium indicate that SNP rs3814113 remains the most strongly associated SNP at the 9p22.2 region with serous ovarian cancer, the original GWAS hit (personal communication). Based on our results, this SNP can be confidently rejected from the set of possible causal variants in <italic>BRCA1</italic> mutation carriers, suggesting that the associations in <italic>BRCA1</italic> mutation carriers and in the general population may be driven by different causal variants at the 9p22.2 locus. These results may indicate differences in the underlying causal mechanisms explaining the ovarian cancer associations between <italic>BRCA1</italic> mutation carriers and the general population. In support of this possibility, differences in the association patterns with ovarian cancer between <italic>BRCA1</italic> and the general population have been reported before. The 4q32.3 locus is associated with ovarian cancer risk in <italic>BRCA1</italic> but not in <italic>BRCA2</italic> mutation carriers or the general population [<xref rid="pone.0158801.ref011" ref-type="bibr">11</xref>], while the opposite is true for the locus 17q11.2 [<xref rid="pone.0158801.ref021" ref-type="bibr">21</xref>]. However, clearer patterns will hopefully emerge once the fine mapping of the 9p22.2 region in samples from the general population is completed.</p><p>As both signals lie in close proximity to the <italic>BNC2</italic> gene, and some candidate causal SNPs are eSNPs for <italic>BNC2</italic> in whole blood, they may modulate the expression of <italic>BNC2</italic> through similar, or different, mechanisms. The possibility that the <italic>BRCA1</italic> association signal may differ from that in the general population adds extra complexity and reinforces the value of fine-scale mapping in different populations. These subtle differences in the patterns of associations depending on the underlying genetic landscape may be difficult to uncover by means other than fine-scale mapping, and thus strengthens the value of this approach for generating hypotheses about the functional basis of different sets of variants.</p><p>This study cannot exclude the possibility that the actual causal variants were not included in the set of genotyped or well-imputed variants. However, the iCOGs array included variants specifically for fine-scale mapping of the 9p22.2 locus based on data from the 1000 Genomes Project and therefore the region coverage is expected to be high. The relatively low number of ovarian cancer cases with tumor morphology information did not allow performing stratified analyses by ovarian cancer histological subtype. Studies of ovarian tumours in women with <italic>BRCA1</italic> or <italic>BRCA</italic>2 mutations have shown that <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers predominantly develop serous disease [<xref rid="pone.0158801.ref019" ref-type="bibr">19</xref>,<xref rid="pone.0158801.ref022" ref-type="bibr">22</xref>]. Of the available data in CIMBA, 67% of all ovarian cancer tumours in our analyses were serous ovarian cancers. Our results are therefore more comparable with the associations for serous ovarian cancer in the general population. Larger studies will be required to assess whether the patterns of associations differ by ovarian cancer histological subtyped in <italic>BRCA1</italic>and <italic>BRCA2</italic> mutation carriers.</p><p>Having narrowed down the potential set of causal variants to only eight SNPs in <italic>BRCA1</italic> mutation carriers will assist functional studies to identify the gene/s targeted by these variants. <italic>BNC2</italic> is an obvious candidate gene, given that the putative causal variants are located in/around its transcription start site. Identifying more strongly associated variants with ovarian cancer in the 9p22.2 region relative to the initial GWAS hit in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers will refine the cancer risks associated with this locus further. These novel variants can be included in polygenic risk scores for ovarian cancer and hence inform the identification of patients at greater risk of disease. The results may also help to deepen our understanding of the biology of ovarian cancer development in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, potentially leading to the development of more effective and personalized treatments.</p></sec><sec sec-type="supplementary-material" id="sec014"><title>Supporting Information</title><supplementary-material content-type="local-data" id="pone.0158801.s001"><label>S1 Fig</label><caption><title>Assessment for an independent signal for the association between SNPs in 9p22.2 and ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</title><p>The colour code indicates the linkage disequilibrium with respect to the variant used for adjustment.</p><p>(TIFF)</p></caption><media xlink:href="pone.0158801.s001.tiff"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s002"><label>S1 Table</label><caption><title>List of the local Institutional Review Boards that provided ethical approval for this study.</title><p>(XLSX)</p></caption><media xlink:href="pone.0158801.s002.xlsx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s003"><label>S2 Table</label><caption><title>Characteristics of study participants.</title><p>(PDF)</p></caption><media xlink:href="pone.0158801.s003.pdf"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s004"><label>S3 Table</label><caption><title>Association of SNPs with ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers (p<0.01).</title><p>(XLSX)</p></caption><media xlink:href="pone.0158801.s004.xlsx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s005"><label>S4 Table</label><caption><title>SNPs within 100 times likely of being causal for the association with ovarian cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</title><p>'T' corresponds to genotyped; 'Info' measures the accuracy of the imputation; 'Ref' and 'Eff' correspond to reference and effector allele, respectively; 'MAF' to minor allele frequency, 'HR' hazard ratio and 'CI' confidence interval. Bold cells correspond to the strongest associated SNP in the indicated dataset. Green and violet text indicates the set of potentially causal variant/s in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, respectively.</p><p>(PDF)</p></caption><media xlink:href="pone.0158801.s005.pdf"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s006"><label>S5 Table</label><caption><title>SNPs within 100 times likely of being causal for the association with ovarian cancer in the meta-analysis of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</title><p>'T' corresponds to genotyped; 'Ref' and 'Eff' correspond to reference and effector allele, respectively; 'MAF' to minimum allele frequency, 'HR' hazard ratio and 'CI' confidence interval. Bold cells correspond to the strongest associated SNP in the indicated dataset. Green, violet and orange text indicate those SNPs within 100 times likely of being the causal variant/s in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and their meta-analysis, respectively.</p><p>(PDF)</p></caption><media xlink:href="pone.0158801.s006.pdf"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s007"><label>S6 Table</label><caption><title>Genomic features for selected SNPs associated with ovarian cancer risk in <italic>BRCA2</italic> mutation carriers.</title><p>(XLSX)</p></caption><media xlink:href="pone.0158801.s007.xlsx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0158801.s008"><label>S1 Text</label><caption><title>Full list of authors and affiliations.</title><p>(DOCX)</p></caption><media xlink:href="pone.0158801.s008.docx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material></sec></body><back><ack><p><bold>BCFR-AU</bold> acknowledges Maggie Angelakos, Judi Maskiell, Gillian Dite, Helen Tsimiklis. <bold>BCFR-NY</bold> wishes 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> wishes to thank members and participants in the Ontario Familial Breast Cancer Registry for their contributions to the study. BFBOCC-LT acknowledges Vilius Rudaitis, Laimonas Griškevičius. <bold>BMBSA</bold> We wish to thank the families who contribute to the BMBSA study. <bold>BRICOH</bold> wishes to thank Yuan Chun Ding and Linda Steele for their work in participant enrollment and biospecimen and data management. <bold>CBCS</bold> thanks Bent Ejlertsen for the recruitment and genetic counseling of participants. <bold>CNIO</bold> thanks Alicia Barroso, Rosario Alonso and Guillermo Pita for their assistance. <bold>CONSIT TEAM</bold> acknowledges Daniela Zaffaroni of the Fondazione IRCCS Istituto Nazionale deti Tumori, Milano, Italy: Monica Barile and Irene Feroce of the Istituto Europeo di Oncologia, Milano, Italy; Alessandra Viel and Riccardo Dolcetti of the CRO Aviano National Cancer Institute, Aviano (PN), Italy; Laura Papi and Gabriele Capone of the University of Florence, Florence, Italy; Laura Ottini and Giuseppe Giannini of the "Sapienza" University, Rome, Italy; Antonella Savarese and Alyne Martayan of the Istituto Nazionale Tumori Regina Elena, Rome, Italy; Stefania Tommasi of the Istituto Nazionale Tumori "Giovanni Paolo II"—Bari, Italy. <bold>GC-HBOC</bold> thanks Ms. JoEllen Weaver and Dr. Betsy Bove for their technical support. <bold>GEMO</bold> wishes 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: Coordinating Centres, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon—Centre Léon Bérard, & 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>HCSC</bold> acknowledges Alicia Tosar and Paula Diaque for their technical assistance. <bold>HEBCS</bold> would like to thank Dr. Kristiina Aittomäki, Taru A. Muranen, Drs. Carl Blomqvist and Kirsimari Aaltonen and RNs Irja Erkkilä and Virpi Palola for their help with the HEBCS data and samples. <bold>HEBON</bold> thanks the registration teams of the Comprehensive Cancer Centre Netherlands and Comprehensive Centre South (together the Netherlands Cancer Registry) and PALGA (Dutch Pathology Registry) for part of the data collection. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) 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, J.L. de Lange, R. Wijnands; 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. HEBON thanks the registration teams of IKNL and PALGA for part of the data collection. <bold>HRBCP</bold> wishes to thank Hong Kong Sanatorium and Hospital for their continued support. <bold>HUNBOCS</bold> wishes to thank the Hungarian Breast and Ovarian Cancer Study Group members (Janos Papp, Tibor Vaszko, Aniko Bozsik, Timea Pocza, 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>ICO</bold> wishes to thank the ICO Hereditary Cancer Program team led by Dr. Gabriel Capella. <bold>INHERIT</bold> would like to thank Dr Martine Dumont, Martine Tranchant for sample management and skilful technical 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> wishes to thank Drs. Ana Peixoto, Catarina Santos, Patrícia Rocha and Pedro Pinto for their skilful contribution to the study. <bold>KCONFAB</bold> wishes 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>MCGILL</bold> Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. <bold>MODSQUAD</bold> acknowledges 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>NICCC</bold> wishes 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>OCGN</bold> We wish to thank members and participants in the Ontario Cancer Genetics Network for their contributions to the study. <bold>OSU CCG</bold> Leigha Senter, Kevin Sweet, Caroline Craven, and Michelle O'Conor were instrumental in accrual of study participants, ascertainment of medical records and database management. Samples were processed by the OSU Human Genetics Sample Bank. <bold>SEABASS</bold> 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 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 respectively. <bold>SMC</bold> team wishes to acknowledge the assistance of the Meirav Comprehensive breast cancer center team at the Sheba Medical Center for 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; from Linköping University Hospital: Marie Stenmark-Askmalm, Sigrun Liedgren. <bold>UCHICAGO</bold> wishes 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> thanks Joyce Seldon MSGC and Lorna Kwan, MPH for assembling the data for this study. <bold>UCSF</bold> would like to thank Dr Robert Nussbaum and the following genetic counsellors 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> thanks Simon Gayther, Carole Pye, Patricia Harrington and Eva Wozniak for their contributions towards the UKFOCR. <bold>UPENN</bold> Breast Cancer Research Foundation; Susan G. Komen Foundation for the cure, Basser Research Center for BRCA. <bold>VFCTG</bold> acknowledges Geoffrey Lindeman, Marion Harris, Martin Delatycki of the Victorian Familial Cancer Trials Group. 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