Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
Identifieur interne : 000307 ( Pmc/Corpus ); précédent : 000306; suivant : 000308Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
Auteurs : Ignacio Blanco ; Karoline Kuchenbaecker ; Daniel Cuadras ; Xianshu Wang ; Daniel Barrowdale ; Gorka Ruiz De Garibay ; Pablo Librado ; Alejandro Sánchez-Gracia ; Julio Rozas ; Núria Bonifaci ; Lesley Mcguffog ; Vernon S. Pankratz ; Abul Islam ; Francesca Mateo ; Antoni Berenguer ; Anna Petit ; Isabel Català ; Joan Brunet ; Lidia Feliubadal ; Eva Tornero ; Javier Benítez ; Ana Osorio ; Teresa Ram N Y Cajal ; Heli Nevanlinna ; Kristiina Aittom Ki ; Banu K. Arun ; Amanda E. Toland ; Beth Y. Karlan ; Christine Walsh ; Jenny Lester ; Mark H. Greene ; Phuong L. Mai ; Robert L. Nussbaum ; Irene L. Andrulis ; Susan M. Domchek ; Katherine L. Nathanson ; Timothy R. Rebbeck ; Rosa B. Barkardottir ; Anna Jakubowska ; Jan Lubinski ; Katarzyna Durda ; Katarzyna Jaworska-Bieniek ; Kathleen Claes ; Tom Van Maerken ; Orland Díez ; Thomas V. Hansen ; Lars J Nson ; Anne-Marie Gerdes ; Bent Ejlertsen ; Miguel De La Hoya ; Trinidad Caldés ; Alison M. Dunning ; Clare Oliver ; Elena Fineberg ; Margaret Cook ; Susan Peock ; Emma Mccann ; Alex Murray ; Chris Jacobs ; Gabriella Pichert ; Fiona Lalloo ; Carol Chu ; Huw Dorkins ; Joan Paterson ; Kai-Ren Ong ; Manuel R. Teixeira ; Frans B. L. Hogervorst ; Annemarie H. Van Der Hout ; Caroline Seynaeve ; Rob B. Van Der Luijt ; Marjolijn J. L. Ligtenberg ; Peter Devilee ; Juul T. Wijnen ; Matti A. Rookus ; Hanne E. J. Meijers-Heijboer ; Marinus J. Blok ; Ans M. W. Van Den Ouweland ; Cora M. Aalfs ; Gustavo C. Rodriguez ; Kelly-Anne A. Phillips ; Marion Piedmonte ; Stacy R. Nerenstone ; Victoria L. Bae-Jump ; David M. O'Malley ; Elena S. Ratner ; Rita K. Schmutzler ; Barbara Wappenschmidt ; Kerstin Rhiem ; Christoph Engel ; Alfons Meindl ; Nina Ditsch ; Norbert Arnold ; Hansjoerg J. Plendl ; Dieter Niederacher ; Christian Sutter ; Shan Wang-Gohrke ; Doris Steinemann ; Sabine Preisler-Adams ; Karin Kast ; Raymonda Varon-Mateeva ; Andrea Gehrig ; Anders Bojesen ; Inge Sokilde Pedersen ; Lone Sunde ; Uffe Birk Jensen ; Mads Thomassen ; Torben A. Kruse ; Lenka Foretova ; Paolo Peterlongo ; Loris Bernard ; Bernard Peissel ; Giulietta Scuvera ; Siranoush Manoukian ; Paolo Radice ; Laura Ottini ; Marco Montagna ; Simona Agata ; Christine Maugard ; Jacques Simard ; Penny Soucy ; Andreas Berger ; Anneliese Fink-Retter ; Christian F. Singer ; Christine Rappaport ; Daphne Geschwantler-Kaulich ; Muy-Kheng Tea ; Georg Pfeiler ; Esther M. John ; Alex Miron ; Susan L. Neuhausen ; Mary Beth Terry ; Wendy K. Chung ; Mary B. Daly ; David E. Goldgar ; Ramunas Janavicius ; Cecilia M. Dorfling ; Elisabeth J. Van Rensburg ; Florentia Fostira ; Irene Konstantopoulou ; Judy Garber ; Andrew K. Godwin ; Edith Olah ; Steven A. Narod ; Gad Rennert ; Shani Shimon Paluch ; Yael Laitman ; Eitan Friedman ; Annelie Liljegren ; Johanna Rantala ; Marie Stenmark-Askmalm ; Niklas Loman ; Evgeny N. Imyanitov ; Ute Hamann ; Amanda B. Spurdle ; Sue Healey ; Jeffrey N. Weitzel ; Josef Herzog ; David Margileth ; Chiara Gorrini ; Manel Esteller ; Antonio G Mez ; Sergi Sayols ; Enrique Vidal ; Holger Heyn ; Dominique Stoppa-Lyonnet ; Melanie Léoné ; Laure Barjhoux ; Marion Fassy-Colcombet ; Antoine De Pauw ; Christine Lasset ; Sandra Fert Ferrer ; Laurent Castera ; Pascaline Berthet ; François Cornelis ; Yves-Jean Bignon ; Francesca Damiola ; Sylvie Mazoyer ; Olga M. Sinilnikova ; Christopher A. Maxwell ; Joseph Vijai ; Mark Robson ; Noah Kauff ; Marina J. Corines ; Danylko Villano ; Julie Cunningham ; Adam Lee ; Noralane Lindor ; Conxi Lázaro ; Douglas F. Easton ; Kenneth Offit ; Georgia Chenevix-Trench ; Fergus J. Couch ; Antonis C. Antoniou ; Miguel Angel PujanaSource :
- PLoS ONE [ 1932-6203 ] ; 2015.
Abstract
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in
Url:
DOI: 10.1371/journal.pone.0120020
PubMed: 25830658
PubMed Central: 4382299
Links to Exploration step
PMC:4382299Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Assessing Associations between the <italic>AURKA-HMMR-TPX2-TUBG1</italic> Functional Module and Breast Cancer Risk in <italic>BRCA1/2</italic> Mutation Carriers</title><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kuchenbaecker, Karoline" sort="Kuchenbaecker, Karoline" uniqKey="Kuchenbaecker K" first="Karoline" last="Kuchenbaecker">Karoline Kuchenbaecker</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cuadras, Daniel" sort="Cuadras, Daniel" uniqKey="Cuadras D" first="Daniel" last="Cuadras">Daniel Cuadras</name><affiliation><nlm:aff id="aff003"><addr-line>Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="aff004"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="De Garibay, Gorka Ruiz" sort="De Garibay, Gorka Ruiz" uniqKey="De Garibay G" first="Gorka Ruiz" last="De Garibay">Gorka Ruiz De Garibay</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Librado, Pablo" sort="Librado, Pablo" uniqKey="Librado P" first="Pablo" last="Librado">Pablo Librado</name><affiliation><nlm:aff id="aff006"><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sanchez Gracia, Alejandro" sort="Sanchez Gracia, Alejandro" uniqKey="Sanchez Gracia A" first="Alejandro" last="Sánchez-Gracia">Alejandro Sánchez-Gracia</name><affiliation><nlm:aff id="aff006"><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rozas, Julio" sort="Rozas, Julio" uniqKey="Rozas J" first="Julio" last="Rozas">Julio Rozas</name><affiliation><nlm:aff id="aff006"><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bonifaci, Nuria" sort="Bonifaci, Nuria" uniqKey="Bonifaci N" first="Núria" last="Bonifaci">Núria Bonifaci</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</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="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pankratz, Vernon S" sort="Pankratz, Vernon S" uniqKey="Pankratz V" first="Vernon S." last="Pankratz">Vernon S. Pankratz</name><affiliation><nlm:aff id="aff007"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Islam, Abul" sort="Islam, Abul" uniqKey="Islam A" first="Abul" last="Islam">Abul Islam</name><affiliation><nlm:aff id="aff008"><addr-line>Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mateo, Francesca" sort="Mateo, Francesca" uniqKey="Mateo F" first="Francesca" last="Mateo">Francesca Mateo</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Berenguer, Antoni" sort="Berenguer, Antoni" uniqKey="Berenguer A" first="Antoni" last="Berenguer">Antoni Berenguer</name><affiliation><nlm:aff id="aff003"><addr-line>Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Petit, Anna" sort="Petit, Anna" uniqKey="Petit A" first="Anna" last="Petit">Anna Petit</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Catala, Isabel" sort="Catala, Isabel" uniqKey="Catala I" first="Isabel" last="Català">Isabel Català</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brunet, Joan" sort="Brunet, Joan" uniqKey="Brunet J" first="Joan" last="Brunet">Joan Brunet</name><affiliation><nlm:aff id="aff010"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Girona Biomedical Research Institute (IDIBGI), Hospital Josep Trueta, Girona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Feliubadal, Lidia" sort="Feliubadal, Lidia" uniqKey="Feliubadal L" first="Lidia" last="Feliubadal">Lidia Feliubadal</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tornero, Eva" sort="Tornero, Eva" uniqKey="Tornero E" first="Eva" last="Tornero">Eva Tornero</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benítez">Javier Benítez</name><affiliation><nlm:aff id="aff011"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain</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="aff011"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cajal, Teresa Ram N Y" sort="Cajal, Teresa Ram N Y" uniqKey="Cajal T" first="Teresa Ram N Y" last="Cajal">Teresa Ram N Y Cajal</name><affiliation><nlm:aff id="aff012"><addr-line>Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain</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="aff013"><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="aff014"><addr-line>Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland</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="aff015"><addr-line>Division of Cancer Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda E" sort="Toland, Amanda E" uniqKey="Toland A" first="Amanda E." last="Toland">Amanda E. Toland</name><affiliation><nlm:aff id="aff016"><addr-line>Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, 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="aff017"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Walsh, Christine" sort="Walsh, Christine" uniqKey="Walsh C" first="Christine" last="Walsh">Christine Walsh</name><affiliation><nlm:aff id="aff017"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America</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="aff017"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, 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="aff018"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America</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="aff018"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Nussbaum, Robert L" sort="Nussbaum, Robert L" uniqKey="Nussbaum R" first="Robert L." last="Nussbaum">Robert L. Nussbaum</name><affiliation><nlm:aff id="aff019"><addr-line>Department of Medicine and Genetics, University of California San Francisco, San Francisco, California, United States of America</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="aff020"><addr-line>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, and Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</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="aff021"><addr-line>Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</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="aff021"><addr-line>Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name><affiliation><nlm:aff id="aff022"><addr-line>Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barkardottir, Rosa B" sort="Barkardottir, Rosa B" uniqKey="Barkardottir R" first="Rosa B." last="Barkardottir">Rosa B. Barkardottir</name><affiliation><nlm:aff id="aff023"><addr-line>Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik, Iceland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name><affiliation><nlm:aff id="aff025"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Maerken, Tom" sort="Van Maerken, Tom" uniqKey="Van Maerken T" first="Tom" last="Van Maerken">Tom Van Maerken</name><affiliation><nlm:aff id="aff025"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><affiliation><nlm:aff id="aff026"><addr-line>Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR) and Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hansen, Thomas V" sort="Hansen, Thomas V" uniqKey="Hansen T" first="Thomas V." last="Hansen">Thomas V. Hansen</name><affiliation><nlm:aff id="aff027"><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="J Nson, Lars" sort="J Nson, Lars" uniqKey="J Nson L" first="Lars" last="J Nson">Lars J Nson</name><affiliation><nlm:aff id="aff027"><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</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="aff028"><addr-line>Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</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="aff029"><addr-line>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation><nlm:aff id="aff030"><addr-line>Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldés">Trinidad Caldés</name><affiliation><nlm:aff id="aff030"><addr-line>Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Oliver, Clare" sort="Oliver, Clare" uniqKey="Oliver C" first="Clare" last="Oliver">Clare Oliver</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fineberg, Elena" sort="Fineberg, Elena" uniqKey="Fineberg E" first="Elena" last="Fineberg">Elena Fineberg</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mccann, Emma" sort="Mccann, Emma" uniqKey="Mccann E" first="Emma" last="Mccann">Emma Mccann</name><affiliation><nlm:aff id="aff031"><addr-line>All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Murray, Alex" sort="Murray, Alex" uniqKey="Murray A" first="Alex" last="Murray">Alex Murray</name><affiliation><nlm:aff id="aff032"><addr-line>All Wales Medical Genetics Services, Singleton Hospital, Swansea, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jacobs, Chris" sort="Jacobs, Chris" uniqKey="Jacobs C" first="Chris" last="Jacobs">Chris Jacobs</name><affiliation><nlm:aff id="aff033"><addr-line>Clinical Genetics, Guy’s and St. Thomas’ National Health Service (NHS) Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pichert, Gabriella" sort="Pichert, Gabriella" uniqKey="Pichert G" first="Gabriella" last="Pichert">Gabriella Pichert</name><affiliation><nlm:aff id="aff033"><addr-line>Clinical Genetics, Guy’s and St. Thomas’ National Health Service (NHS) Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lalloo, Fiona" sort="Lalloo, Fiona" uniqKey="Lalloo F" first="Fiona" last="Lalloo">Fiona Lalloo</name><affiliation><nlm:aff id="aff034"><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, Manchester, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name><affiliation><nlm:aff id="aff035"><addr-line>Yorkshire Regional Genetics Service, Leeds, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dorkins, Huw" sort="Dorkins, Huw" uniqKey="Dorkins H" first="Huw" last="Dorkins">Huw Dorkins</name><affiliation><nlm:aff id="aff036"><addr-line>North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Paterson, Joan" sort="Paterson, Joan" uniqKey="Paterson J" first="Joan" last="Paterson">Joan Paterson</name><affiliation><nlm:aff id="aff037"><addr-line>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom</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="aff038"><addr-line>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare National Health Service (NHS) Trust, Edgbaston, Birmingham, United Kingdom</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="aff039"><addr-line>Department of Genetics, Portuguese Oncology Institute, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal</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="aff041"><addr-line>Family Cancer Clinic, Netherlands Cancer Institute (NKI), Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H." last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation><nlm:aff id="aff042"><addr-line>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Seynaeve, Caroline" sort="Seynaeve, Caroline" uniqKey="Seynaeve C" first="Caroline" last="Seynaeve">Caroline Seynaeve</name><affiliation><nlm:aff id="aff043"><addr-line>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B." last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="aff044"><addr-line>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ligtenberg, Marjolijn J L" sort="Ligtenberg, Marjolijn J L" uniqKey="Ligtenberg M" first="Marjolijn J. L." last="Ligtenberg">Marjolijn J. L. Ligtenberg</name><affiliation><nlm:aff id="aff045"><addr-line>Department of Human Genetics and Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff id="aff046"><addr-line>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff047"><addr-line>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T." last="Wijnen">Juul T. Wijnen</name><affiliation><nlm:aff id="aff046"><addr-line>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff048"><addr-line>Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</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="aff049"><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne E J" sort="Meijers Heijboer, Hanne E J" uniqKey="Meijers Heijboer H" first="Hanne E. J." last="Meijers-Heijboer">Hanne E. J. Meijers-Heijboer</name><affiliation><nlm:aff id="aff050"><addr-line>Department of Clinical Genetics, Vrije Universiteit (VU) University Medical Centre, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name><affiliation><nlm:aff id="aff051"><addr-line>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans M W" sort="Van Den Ouweland, Ans M W" uniqKey="Van Den Ouweland A" first="Ans M. W." last="Van Den Ouweland">Ans M. W. Van Den Ouweland</name><affiliation><nlm:aff id="aff052"><addr-line>Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Aalfs, Cora M" sort="Aalfs, Cora M" uniqKey="Aalfs C" first="Cora M." last="Aalfs">Cora M. Aalfs</name><affiliation><nlm:aff id="aff053"><addr-line>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands</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="aff054"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Chicago, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Phillips, Kelly Anne A" sort="Phillips, Kelly Anne A" uniqKey="Phillips K" first="Kelly-Anne A." last="Phillips">Kelly-Anne A. Phillips</name><affiliation><nlm:aff id="aff055"><addr-line>Division of Cancer Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia</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="aff056"><addr-line>Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Nerenstone, Stacy R" sort="Nerenstone, Stacy R" uniqKey="Nerenstone S" first="Stacy R." last="Nerenstone">Stacy R. Nerenstone</name><affiliation><nlm:aff id="aff057"><addr-line>Central Connecticut Cancer Consortium, Hartford Hospital/Helen and Harry Gray Cancer Center, Hartford, Connecticut, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bae Jump, Victoria L" sort="Bae Jump, Victoria L" uniqKey="Bae Jump V" first="Victoria L." last="Bae-Jump">Victoria L. Bae-Jump</name><affiliation><nlm:aff id="aff058"><addr-line>Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="O Malley, David M" sort="O Malley, David M" uniqKey="O Malley D" first="David M." last="O'Malley">David M. O'Malley</name><affiliation><nlm:aff id="aff059"><addr-line>Division of Gynecologic Oncology, Ohio State University, Columbus Cancer Council, Hilliard, Ohio, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ratner, Elena S" sort="Ratner, Elena S" uniqKey="Ratner E" first="Elena S." last="Ratner">Elena S. Ratner</name><affiliation><nlm:aff id="aff060"><addr-line>Division of Gynecologic Oncology, Yale University School of Medicine, New Haven, Connecticut, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="aff061"><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="aff061"><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rhiem, Kerstin" sort="Rhiem, Kerstin" uniqKey="Rhiem K" first="Kerstin" last="Rhiem">Kerstin Rhiem</name><affiliation><nlm:aff id="aff061"><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="aff062"><addr-line>Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</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="aff063"><addr-line>Department of Gynecology and Obstetrics, Division of Tumor Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ditsch, Nina" sort="Ditsch, Nina" uniqKey="Ditsch N" first="Nina" last="Ditsch">Nina Ditsch</name><affiliation><nlm:aff id="aff064"><addr-line>Department of Gynecology and Obstetrics, Ludwig-Maximilian University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="aff065"><addr-line>Department of Gynecology and Obstetrics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Plendl, Hansjoerg J" sort="Plendl, Hansjoerg J" uniqKey="Plendl H" first="Hansjoerg J." last="Plendl">Hansjoerg J. Plendl</name><affiliation><nlm:aff id="aff066"><addr-line>Institute of Human Genetics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany</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="aff067"><addr-line>Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</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="aff068"><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wang Gohrke, Shan" sort="Wang Gohrke, Shan" uniqKey="Wang Gohrke S" first="Shan" last="Wang-Gohrke">Shan Wang-Gohrke</name><affiliation><nlm:aff id="aff069"><addr-line>Department of Gynecology and Obstetrics, University Hospital Ulm, Ulm, Germany</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="aff070"><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Preisler Adams, Sabine" sort="Preisler Adams, Sabine" uniqKey="Preisler Adams S" first="Sabine" last="Preisler-Adams">Sabine Preisler-Adams</name><affiliation><nlm:aff id="aff071"><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</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="aff072"><addr-line>Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</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="aff073"><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</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="aff074"><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="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="aff075"><addr-line>Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark</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="aff076"><addr-line>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sunde, Lone" sort="Sunde, Lone" uniqKey="Sunde L" first="Lone" last="Sunde">Lone Sunde</name><affiliation><nlm:aff id="aff077"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</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="aff077"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</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="aff078"><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kruse, Torben A" sort="Kruse, Torben A" uniqKey="Kruse T" first="Torben A." last="Kruse">Torben A. Kruse</name><affiliation><nlm:aff id="aff078"><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><nlm:aff id="aff079"><addr-line>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic</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="aff080"><addr-line>Fondazione Istituto di Oncologia Molecolare (IFOM), Fondazione Italiana per la Ricerca sul Cancro (FIRC), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bernard, Loris" sort="Bernard, Loris" uniqKey="Bernard L" first="Loris" last="Bernard">Loris Bernard</name><affiliation><nlm:aff id="aff081"><addr-line>Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Cogentech Cancer Genetic Test Laboratory, Milan, Italy</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="aff082"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Scuvera, Giulietta" sort="Scuvera, Giulietta" uniqKey="Scuvera G" first="Giulietta" last="Scuvera">Giulietta Scuvera</name><affiliation><nlm:aff id="aff082"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</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="aff082"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</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="aff083"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ottini, Laura" sort="Ottini, Laura" uniqKey="Ottini L" first="Laura" last="Ottini">Laura Ottini</name><affiliation><nlm:aff id="aff084"><addr-line>Department of Molecular Medicine, "Sapienza" University, Rome, Italy</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="aff085"><addr-line>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="aff085"><addr-line>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Maugard, Christine" sort="Maugard, Christine" uniqKey="Maugard C" first="Christine" last="Maugard">Christine Maugard</name><affiliation><nlm:aff id="aff086"><addr-line>Laboratoire de Diagnostic Génétique et Service d'Onco-Hématologie, Hopitaux Universitaire de Strasbourg, Centre Hospitalier Régional Universitaire (CHRU) Nouvel Hôpital Civil, Strasbourg, France</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="aff087"><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada</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="aff087"><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fink Retter, Anneliese" sort="Fink Retter, Anneliese" uniqKey="Fink Retter A" first="Anneliese" last="Fink-Retter">Anneliese Fink-Retter</name><affiliation><nlm:aff id="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rappaport, Christine" sort="Rappaport, Christine" uniqKey="Rappaport C" first="Christine" last="Rappaport">Christine Rappaport</name><affiliation><nlm:aff id="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Geschwantler Kaulich, Daphne" sort="Geschwantler Kaulich, Daphne" uniqKey="Geschwantler Kaulich D" first="Daphne" last="Geschwantler-Kaulich">Daphne Geschwantler-Kaulich</name><affiliation><nlm:aff id="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff090"><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Miron, Alex" sort="Miron, Alex" uniqKey="Miron A" first="Alex" last="Miron">Alex Miron</name><affiliation><nlm:aff id="aff091"><addr-line>Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, 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="aff092"><addr-line>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America</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="aff093"><addr-line>Department of Epidemiology, Columbia University, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation><nlm:aff id="aff094"><addr-line>Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, United States of America</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="aff095"><addr-line>Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, 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="aff096"><addr-line>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America</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="aff097"><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, State Research Centre Institute for Innovative medicine, Vilnius, Lithuania</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dorfling, Cecilia M" sort="Dorfling, Cecilia M" uniqKey="Dorfling C" first="Cecilia M." last="Dorfling">Cecilia M. Dorfling</name><affiliation><nlm:aff id="aff098"><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elisabeth J" sort="Van Rensburg, Elisabeth J" uniqKey="Van Rensburg E" first="Elisabeth J." last="Van Rensburg">Elisabeth J. Van Rensburg</name><affiliation><nlm:aff id="aff098"><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa</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="aff099"><addr-line>Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, Irene" sort="Konstantopoulou, Irene" uniqKey="Konstantopoulou I" first="Irene" last="Konstantopoulou">Irene Konstantopoulou</name><affiliation><nlm:aff id="aff099"><addr-line>Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece</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="aff100"><addr-line>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, United States of America</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="aff101"><addr-line>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America</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="aff102"><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></nlm:aff></affiliation></author><author><name sortKey="Narod, Steven A" sort="Narod, Steven A" uniqKey="Narod S" first="Steven A." last="Narod">Steven A. Narod</name><affiliation><nlm:aff id="aff103"><addr-line>Women's College Research Institute, University of Toronto, Toronto, Canada</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="aff104"><addr-line>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine, Haifa, Israel</addr-line></nlm:aff></affiliation></author><author><name sortKey="Paluch, Shani Shimon" sort="Paluch, Shani Shimon" uniqKey="Paluch S" first="Shani Shimon" last="Paluch">Shani Shimon Paluch</name><affiliation><nlm:aff id="aff105"><addr-line>The Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, Israel</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="aff106"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel</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="aff106"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff107"><addr-line>Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel</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="aff109"><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rantala, Johanna" sort="Rantala, Johanna" uniqKey="Rantala J" first="Johanna" last="Rantala">Johanna Rantala</name><affiliation><nlm:aff id="aff110"><addr-line>Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Stenmark Askmalm, Marie" sort="Stenmark Askmalm, Marie" uniqKey="Stenmark Askmalm M" first="Marie" last="Stenmark-Askmalm">Marie Stenmark-Askmalm</name><affiliation><nlm:aff id="aff111"><addr-line>Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Loman, Niklas" sort="Loman, Niklas" uniqKey="Loman N" first="Niklas" last="Loman">Niklas Loman</name><affiliation><nlm:aff id="aff112"><addr-line>Department of Oncology, Lund University Hospital, Lund, Sweden</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="aff113"><addr-line>N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</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="aff114"><addr-line>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="aff116"><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</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="aff116"><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</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="aff117"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Herzog, Josef" sort="Herzog, Josef" uniqKey="Herzog J" first="Josef" last="Herzog">Josef Herzog</name><affiliation><nlm:aff id="aff117"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Margileth, David" sort="Margileth, David" uniqKey="Margileth D" first="David" last="Margileth">David Margileth</name><affiliation><nlm:aff id="aff118"><addr-line>St. Joseph Hospital of Orange, Care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gorrini, Chiara" sort="Gorrini, Chiara" uniqKey="Gorrini C" first="Chiara" last="Gorrini">Chiara Gorrini</name><affiliation><nlm:aff id="aff119"><addr-line>The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, University Health Network, Toronto, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Esteller, Manel" sort="Esteller, Manel" uniqKey="Esteller M" first="Manel" last="Esteller">Manel Esteller</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff121"><addr-line>Department of Physiological Sciences II, School of Medicine, University of Barcelona, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff122"><addr-line>Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="G Mez, Antonio" sort="G Mez, Antonio" uniqKey="G Mez A" first="Antonio" last="G Mez">Antonio G Mez</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sayols, Sergi" sort="Sayols, Sergi" uniqKey="Sayols S" first="Sergi" last="Sayols">Sergi Sayols</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vidal, Enrique" sort="Vidal, Enrique" uniqKey="Vidal E" first="Enrique" last="Vidal">Enrique Vidal</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Heyn, Holger" sort="Heyn, Holger" uniqKey="Heyn H" first="Holger" last="Heyn">Holger Heyn</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</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="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff125"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U830, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff126"><addr-line>Université Paris Descartes, Sorbonne Paris Cité, Paris, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Leone, Melanie" sort="Leone, Melanie" uniqKey="Leone M" first="Melanie" last="Léoné">Melanie Léoné</name><affiliation><nlm:aff id="aff127"><addr-line>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon–Centre Léon Bérard, Lyon, France</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="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fassy Colcombet, Marion" sort="Fassy Colcombet, Marion" uniqKey="Fassy Colcombet M" first="Marion" last="Fassy-Colcombet">Marion Fassy-Colcombet</name><affiliation><nlm:aff id="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</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="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name><affiliation><nlm:aff id="aff129"><addr-line>Université Lyon 1, Centre National de la Recherche Scientifique (CNRS) UMR5558, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ferrer, Sandra Fert" sort="Ferrer, Sandra Fert" uniqKey="Ferrer S" first="Sandra Fert" last="Ferrer">Sandra Fert Ferrer</name><affiliation><nlm:aff id="aff130"><addr-line>Laboratoire de Génétique Chromosomique, Hôtel Dieu Centre Hospitalier, Chambéry, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castera">Laurent Castera</name><affiliation><nlm:aff id="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline Berthet</name><affiliation><nlm:aff id="aff131"><addr-line>Centre François Baclesse, Caen, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cornelis, Francois" sort="Cornelis, Francois" uniqKey="Cornelis F" first="François" last="Cornelis">François Cornelis</name><affiliation><nlm:aff id="aff132"><addr-line>Genetic Unit, Avicenne Hospital, Assitance Publique-Hôpitaux de Paris, Paris, Sud-Francilien Hospital, Evry-Corbeil, and University Hospital, Clermont-Ferrand, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bignon, Yves Jean" sort="Bignon, Yves Jean" uniqKey="Bignon Y" first="Yves-Jean" last="Bignon">Yves-Jean Bignon</name><affiliation><nlm:aff id="aff133"><addr-line>Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, Clermont-Ferrand, France</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="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</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="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="aff127"><addr-line>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon–Centre Léon Bérard, Lyon, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Maxwell, Christopher A" sort="Maxwell, Christopher A" uniqKey="Maxwell C" first="Christopher A." last="Maxwell">Christopher A. Maxwell</name><affiliation><nlm:aff id="aff134"><addr-line>Department of Pediatrics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada</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="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kauff, Noah" sort="Kauff, Noah" uniqKey="Kauff N" first="Noah" last="Kauff">Noah Kauff</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Corines, Marina J" sort="Corines, Marina J" uniqKey="Corines M" first="Marina J." last="Corines">Marina J. Corines</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Villano, Danylko" sort="Villano, Danylko" uniqKey="Villano D" first="Danylko" last="Villano">Danylko Villano</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cunningham, Julie" sort="Cunningham, Julie" uniqKey="Cunningham J" first="Julie" last="Cunningham">Julie Cunningham</name><affiliation><nlm:aff id="aff004"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff007"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lee, Adam" sort="Lee, Adam" uniqKey="Lee A" first="Adam" last="Lee">Adam Lee</name><affiliation><nlm:aff id="aff136"><addr-line>Department of Oncology, Mayo Clinic, Rochester, Minnesota, United States of America</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="aff137"><addr-line>Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lázaro">Conxi Lázaro</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</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="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</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="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</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="aff116"><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</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="aff004"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff007"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</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="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pujana, Miguel Angel" sort="Pujana, Miguel Angel" uniqKey="Pujana M" first="Miguel Angel" last="Pujana">Miguel Angel Pujana</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25830658</idno><idno type="pmc">4382299</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382299</idno><idno type="RBID">PMC:4382299</idno><idno type="doi">10.1371/journal.pone.0120020</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000307</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000307</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Assessing Associations between the <italic>AURKA-HMMR-TPX2-TUBG1</italic> Functional Module and Breast Cancer Risk in <italic>BRCA1/2</italic> Mutation Carriers</title><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kuchenbaecker, Karoline" sort="Kuchenbaecker, Karoline" uniqKey="Kuchenbaecker K" first="Karoline" last="Kuchenbaecker">Karoline Kuchenbaecker</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cuadras, Daniel" sort="Cuadras, Daniel" uniqKey="Cuadras D" first="Daniel" last="Cuadras">Daniel Cuadras</name><affiliation><nlm:aff id="aff003"><addr-line>Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="aff004"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="De Garibay, Gorka Ruiz" sort="De Garibay, Gorka Ruiz" uniqKey="De Garibay G" first="Gorka Ruiz" last="De Garibay">Gorka Ruiz De Garibay</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Librado, Pablo" sort="Librado, Pablo" uniqKey="Librado P" first="Pablo" last="Librado">Pablo Librado</name><affiliation><nlm:aff id="aff006"><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sanchez Gracia, Alejandro" sort="Sanchez Gracia, Alejandro" uniqKey="Sanchez Gracia A" first="Alejandro" last="Sánchez-Gracia">Alejandro Sánchez-Gracia</name><affiliation><nlm:aff id="aff006"><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rozas, Julio" sort="Rozas, Julio" uniqKey="Rozas J" first="Julio" last="Rozas">Julio Rozas</name><affiliation><nlm:aff id="aff006"><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bonifaci, Nuria" sort="Bonifaci, Nuria" uniqKey="Bonifaci N" first="Núria" last="Bonifaci">Núria Bonifaci</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</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="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pankratz, Vernon S" sort="Pankratz, Vernon S" uniqKey="Pankratz V" first="Vernon S." last="Pankratz">Vernon S. Pankratz</name><affiliation><nlm:aff id="aff007"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Islam, Abul" sort="Islam, Abul" uniqKey="Islam A" first="Abul" last="Islam">Abul Islam</name><affiliation><nlm:aff id="aff008"><addr-line>Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mateo, Francesca" sort="Mateo, Francesca" uniqKey="Mateo F" first="Francesca" last="Mateo">Francesca Mateo</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Berenguer, Antoni" sort="Berenguer, Antoni" uniqKey="Berenguer A" first="Antoni" last="Berenguer">Antoni Berenguer</name><affiliation><nlm:aff id="aff003"><addr-line>Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Petit, Anna" sort="Petit, Anna" uniqKey="Petit A" first="Anna" last="Petit">Anna Petit</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Catala, Isabel" sort="Catala, Isabel" uniqKey="Catala I" first="Isabel" last="Català">Isabel Català</name><affiliation><nlm:aff id="aff009"><addr-line>Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brunet, Joan" sort="Brunet, Joan" uniqKey="Brunet J" first="Joan" last="Brunet">Joan Brunet</name><affiliation><nlm:aff id="aff010"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Girona Biomedical Research Institute (IDIBGI), Hospital Josep Trueta, Girona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Feliubadal, Lidia" sort="Feliubadal, Lidia" uniqKey="Feliubadal L" first="Lidia" last="Feliubadal">Lidia Feliubadal</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tornero, Eva" sort="Tornero, Eva" uniqKey="Tornero E" first="Eva" last="Tornero">Eva Tornero</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benítez">Javier Benítez</name><affiliation><nlm:aff id="aff011"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain</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="aff011"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cajal, Teresa Ram N Y" sort="Cajal, Teresa Ram N Y" uniqKey="Cajal T" first="Teresa Ram N Y" last="Cajal">Teresa Ram N Y Cajal</name><affiliation><nlm:aff id="aff012"><addr-line>Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain</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="aff013"><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="aff014"><addr-line>Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland</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="aff015"><addr-line>Division of Cancer Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda E" sort="Toland, Amanda E" uniqKey="Toland A" first="Amanda E." last="Toland">Amanda E. Toland</name><affiliation><nlm:aff id="aff016"><addr-line>Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, 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="aff017"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Walsh, Christine" sort="Walsh, Christine" uniqKey="Walsh C" first="Christine" last="Walsh">Christine Walsh</name><affiliation><nlm:aff id="aff017"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America</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="aff017"><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, 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="aff018"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America</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="aff018"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Nussbaum, Robert L" sort="Nussbaum, Robert L" uniqKey="Nussbaum R" first="Robert L." last="Nussbaum">Robert L. Nussbaum</name><affiliation><nlm:aff id="aff019"><addr-line>Department of Medicine and Genetics, University of California San Francisco, San Francisco, California, United States of America</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="aff020"><addr-line>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, and Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</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="aff021"><addr-line>Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</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="aff021"><addr-line>Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name><affiliation><nlm:aff id="aff022"><addr-line>Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barkardottir, Rosa B" sort="Barkardottir, Rosa B" uniqKey="Barkardottir R" first="Rosa B." last="Barkardottir">Rosa B. Barkardottir</name><affiliation><nlm:aff id="aff023"><addr-line>Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik, Iceland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</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="aff024"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Claes, Kathleen" sort="Claes, Kathleen" uniqKey="Claes K" first="Kathleen" last="Claes">Kathleen Claes</name><affiliation><nlm:aff id="aff025"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Maerken, Tom" sort="Van Maerken, Tom" uniqKey="Van Maerken T" first="Tom" last="Van Maerken">Tom Van Maerken</name><affiliation><nlm:aff id="aff025"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><affiliation><nlm:aff id="aff026"><addr-line>Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR) and Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hansen, Thomas V" sort="Hansen, Thomas V" uniqKey="Hansen T" first="Thomas V." last="Hansen">Thomas V. Hansen</name><affiliation><nlm:aff id="aff027"><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="J Nson, Lars" sort="J Nson, Lars" uniqKey="J Nson L" first="Lars" last="J Nson">Lars J Nson</name><affiliation><nlm:aff id="aff027"><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</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="aff028"><addr-line>Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</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="aff029"><addr-line>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation><nlm:aff id="aff030"><addr-line>Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldés">Trinidad Caldés</name><affiliation><nlm:aff id="aff030"><addr-line>Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Oliver, Clare" sort="Oliver, Clare" uniqKey="Oliver C" first="Clare" last="Oliver">Clare Oliver</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fineberg, Elena" sort="Fineberg, Elena" uniqKey="Fineberg E" first="Elena" last="Fineberg">Elena Fineberg</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name><affiliation><nlm:aff id="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mccann, Emma" sort="Mccann, Emma" uniqKey="Mccann E" first="Emma" last="Mccann">Emma Mccann</name><affiliation><nlm:aff id="aff031"><addr-line>All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Murray, Alex" sort="Murray, Alex" uniqKey="Murray A" first="Alex" last="Murray">Alex Murray</name><affiliation><nlm:aff id="aff032"><addr-line>All Wales Medical Genetics Services, Singleton Hospital, Swansea, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jacobs, Chris" sort="Jacobs, Chris" uniqKey="Jacobs C" first="Chris" last="Jacobs">Chris Jacobs</name><affiliation><nlm:aff id="aff033"><addr-line>Clinical Genetics, Guy’s and St. Thomas’ National Health Service (NHS) Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pichert, Gabriella" sort="Pichert, Gabriella" uniqKey="Pichert G" first="Gabriella" last="Pichert">Gabriella Pichert</name><affiliation><nlm:aff id="aff033"><addr-line>Clinical Genetics, Guy’s and St. Thomas’ National Health Service (NHS) Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lalloo, Fiona" sort="Lalloo, Fiona" uniqKey="Lalloo F" first="Fiona" last="Lalloo">Fiona Lalloo</name><affiliation><nlm:aff id="aff034"><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, Manchester, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name><affiliation><nlm:aff id="aff035"><addr-line>Yorkshire Regional Genetics Service, Leeds, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dorkins, Huw" sort="Dorkins, Huw" uniqKey="Dorkins H" first="Huw" last="Dorkins">Huw Dorkins</name><affiliation><nlm:aff id="aff036"><addr-line>North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Paterson, Joan" sort="Paterson, Joan" uniqKey="Paterson J" first="Joan" last="Paterson">Joan Paterson</name><affiliation><nlm:aff id="aff037"><addr-line>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom</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="aff038"><addr-line>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare National Health Service (NHS) Trust, Edgbaston, Birmingham, United Kingdom</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="aff039"><addr-line>Department of Genetics, Portuguese Oncology Institute, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal</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="aff041"><addr-line>Family Cancer Clinic, Netherlands Cancer Institute (NKI), Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H." last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation><nlm:aff id="aff042"><addr-line>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Seynaeve, Caroline" sort="Seynaeve, Caroline" uniqKey="Seynaeve C" first="Caroline" last="Seynaeve">Caroline Seynaeve</name><affiliation><nlm:aff id="aff043"><addr-line>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B." last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation><nlm:aff id="aff044"><addr-line>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ligtenberg, Marjolijn J L" sort="Ligtenberg, Marjolijn J L" uniqKey="Ligtenberg M" first="Marjolijn J. L." last="Ligtenberg">Marjolijn J. L. Ligtenberg</name><affiliation><nlm:aff id="aff045"><addr-line>Department of Human Genetics and Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff id="aff046"><addr-line>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff047"><addr-line>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T." last="Wijnen">Juul T. Wijnen</name><affiliation><nlm:aff id="aff046"><addr-line>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff048"><addr-line>Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</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="aff049"><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne E J" sort="Meijers Heijboer, Hanne E J" uniqKey="Meijers Heijboer H" first="Hanne E. J." last="Meijers-Heijboer">Hanne E. J. Meijers-Heijboer</name><affiliation><nlm:aff id="aff050"><addr-line>Department of Clinical Genetics, Vrije Universiteit (VU) University Medical Centre, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name><affiliation><nlm:aff id="aff051"><addr-line>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans M W" sort="Van Den Ouweland, Ans M W" uniqKey="Van Den Ouweland A" first="Ans M. W." last="Van Den Ouweland">Ans M. W. Van Den Ouweland</name><affiliation><nlm:aff id="aff052"><addr-line>Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Aalfs, Cora M" sort="Aalfs, Cora M" uniqKey="Aalfs C" first="Cora M." last="Aalfs">Cora M. Aalfs</name><affiliation><nlm:aff id="aff053"><addr-line>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands</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="aff054"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Chicago, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Phillips, Kelly Anne A" sort="Phillips, Kelly Anne A" uniqKey="Phillips K" first="Kelly-Anne A." last="Phillips">Kelly-Anne A. Phillips</name><affiliation><nlm:aff id="aff055"><addr-line>Division of Cancer Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia</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="aff056"><addr-line>Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Nerenstone, Stacy R" sort="Nerenstone, Stacy R" uniqKey="Nerenstone S" first="Stacy R." last="Nerenstone">Stacy R. Nerenstone</name><affiliation><nlm:aff id="aff057"><addr-line>Central Connecticut Cancer Consortium, Hartford Hospital/Helen and Harry Gray Cancer Center, Hartford, Connecticut, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bae Jump, Victoria L" sort="Bae Jump, Victoria L" uniqKey="Bae Jump V" first="Victoria L." last="Bae-Jump">Victoria L. Bae-Jump</name><affiliation><nlm:aff id="aff058"><addr-line>Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="O Malley, David M" sort="O Malley, David M" uniqKey="O Malley D" first="David M." last="O'Malley">David M. O'Malley</name><affiliation><nlm:aff id="aff059"><addr-line>Division of Gynecologic Oncology, Ohio State University, Columbus Cancer Council, Hilliard, Ohio, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ratner, Elena S" sort="Ratner, Elena S" uniqKey="Ratner E" first="Elena S." last="Ratner">Elena S. Ratner</name><affiliation><nlm:aff id="aff060"><addr-line>Division of Gynecologic Oncology, Yale University School of Medicine, New Haven, Connecticut, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="aff061"><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:aff id="aff061"><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rhiem, Kerstin" sort="Rhiem, Kerstin" uniqKey="Rhiem K" first="Kerstin" last="Rhiem">Kerstin Rhiem</name><affiliation><nlm:aff id="aff061"><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><nlm:aff id="aff062"><addr-line>Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</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="aff063"><addr-line>Department of Gynecology and Obstetrics, Division of Tumor Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ditsch, Nina" sort="Ditsch, Nina" uniqKey="Ditsch N" first="Nina" last="Ditsch">Nina Ditsch</name><affiliation><nlm:aff id="aff064"><addr-line>Department of Gynecology and Obstetrics, Ludwig-Maximilian University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="aff065"><addr-line>Department of Gynecology and Obstetrics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Plendl, Hansjoerg J" sort="Plendl, Hansjoerg J" uniqKey="Plendl H" first="Hansjoerg J." last="Plendl">Hansjoerg J. Plendl</name><affiliation><nlm:aff id="aff066"><addr-line>Institute of Human Genetics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany</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="aff067"><addr-line>Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</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="aff068"><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wang Gohrke, Shan" sort="Wang Gohrke, Shan" uniqKey="Wang Gohrke S" first="Shan" last="Wang-Gohrke">Shan Wang-Gohrke</name><affiliation><nlm:aff id="aff069"><addr-line>Department of Gynecology and Obstetrics, University Hospital Ulm, Ulm, Germany</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="aff070"><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Preisler Adams, Sabine" sort="Preisler Adams, Sabine" uniqKey="Preisler Adams S" first="Sabine" last="Preisler-Adams">Sabine Preisler-Adams</name><affiliation><nlm:aff id="aff071"><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</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="aff072"><addr-line>Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</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="aff073"><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</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="aff074"><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="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="aff075"><addr-line>Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark</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="aff076"><addr-line>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sunde, Lone" sort="Sunde, Lone" uniqKey="Sunde L" first="Lone" last="Sunde">Lone Sunde</name><affiliation><nlm:aff id="aff077"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</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="aff077"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</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="aff078"><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kruse, Torben A" sort="Kruse, Torben A" uniqKey="Kruse T" first="Torben A." last="Kruse">Torben A. Kruse</name><affiliation><nlm:aff id="aff078"><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Foretova, Lenka" sort="Foretova, Lenka" uniqKey="Foretova L" first="Lenka" last="Foretova">Lenka Foretova</name><affiliation><nlm:aff id="aff079"><addr-line>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic</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="aff080"><addr-line>Fondazione Istituto di Oncologia Molecolare (IFOM), Fondazione Italiana per la Ricerca sul Cancro (FIRC), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bernard, Loris" sort="Bernard, Loris" uniqKey="Bernard L" first="Loris" last="Bernard">Loris Bernard</name><affiliation><nlm:aff id="aff081"><addr-line>Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Cogentech Cancer Genetic Test Laboratory, Milan, Italy</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="aff082"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Scuvera, Giulietta" sort="Scuvera, Giulietta" uniqKey="Scuvera G" first="Giulietta" last="Scuvera">Giulietta Scuvera</name><affiliation><nlm:aff id="aff082"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</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="aff082"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</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="aff083"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ottini, Laura" sort="Ottini, Laura" uniqKey="Ottini L" first="Laura" last="Ottini">Laura Ottini</name><affiliation><nlm:aff id="aff084"><addr-line>Department of Molecular Medicine, "Sapienza" University, Rome, Italy</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="aff085"><addr-line>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="aff085"><addr-line>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Maugard, Christine" sort="Maugard, Christine" uniqKey="Maugard C" first="Christine" last="Maugard">Christine Maugard</name><affiliation><nlm:aff id="aff086"><addr-line>Laboratoire de Diagnostic Génétique et Service d'Onco-Hématologie, Hopitaux Universitaire de Strasbourg, Centre Hospitalier Régional Universitaire (CHRU) Nouvel Hôpital Civil, Strasbourg, France</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="aff087"><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada</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="aff087"><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fink Retter, Anneliese" sort="Fink Retter, Anneliese" uniqKey="Fink Retter A" first="Anneliese" last="Fink-Retter">Anneliese Fink-Retter</name><affiliation><nlm:aff id="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rappaport, Christine" sort="Rappaport, Christine" uniqKey="Rappaport C" first="Christine" last="Rappaport">Christine Rappaport</name><affiliation><nlm:aff id="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Geschwantler Kaulich, Daphne" sort="Geschwantler Kaulich, Daphne" uniqKey="Geschwantler Kaulich D" first="Daphne" last="Geschwantler-Kaulich">Daphne Geschwantler-Kaulich</name><affiliation><nlm:aff id="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff088"><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff090"><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Miron, Alex" sort="Miron, Alex" uniqKey="Miron A" first="Alex" last="Miron">Alex Miron</name><affiliation><nlm:aff id="aff091"><addr-line>Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, 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="aff092"><addr-line>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America</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="aff093"><addr-line>Department of Epidemiology, Columbia University, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation><nlm:aff id="aff094"><addr-line>Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, United States of America</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="aff095"><addr-line>Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, 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="aff096"><addr-line>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America</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="aff097"><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, State Research Centre Institute for Innovative medicine, Vilnius, Lithuania</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dorfling, Cecilia M" sort="Dorfling, Cecilia M" uniqKey="Dorfling C" first="Cecilia M." last="Dorfling">Cecilia M. Dorfling</name><affiliation><nlm:aff id="aff098"><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elisabeth J" sort="Van Rensburg, Elisabeth J" uniqKey="Van Rensburg E" first="Elisabeth J." last="Van Rensburg">Elisabeth J. Van Rensburg</name><affiliation><nlm:aff id="aff098"><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa</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="aff099"><addr-line>Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Konstantopoulou, Irene" sort="Konstantopoulou, Irene" uniqKey="Konstantopoulou I" first="Irene" last="Konstantopoulou">Irene Konstantopoulou</name><affiliation><nlm:aff id="aff099"><addr-line>Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece</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="aff100"><addr-line>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, United States of America</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="aff101"><addr-line>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America</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="aff102"><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></nlm:aff></affiliation></author><author><name sortKey="Narod, Steven A" sort="Narod, Steven A" uniqKey="Narod S" first="Steven A." last="Narod">Steven A. Narod</name><affiliation><nlm:aff id="aff103"><addr-line>Women's College Research Institute, University of Toronto, Toronto, Canada</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="aff104"><addr-line>Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine, Haifa, Israel</addr-line></nlm:aff></affiliation></author><author><name sortKey="Paluch, Shani Shimon" sort="Paluch, Shani Shimon" uniqKey="Paluch S" first="Shani Shimon" last="Paluch">Shani Shimon Paluch</name><affiliation><nlm:aff id="aff105"><addr-line>The Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, Israel</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="aff106"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel</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="aff106"><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff107"><addr-line>Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel</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="aff109"><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rantala, Johanna" sort="Rantala, Johanna" uniqKey="Rantala J" first="Johanna" last="Rantala">Johanna Rantala</name><affiliation><nlm:aff id="aff110"><addr-line>Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Stenmark Askmalm, Marie" sort="Stenmark Askmalm, Marie" uniqKey="Stenmark Askmalm M" first="Marie" last="Stenmark-Askmalm">Marie Stenmark-Askmalm</name><affiliation><nlm:aff id="aff111"><addr-line>Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Loman, Niklas" sort="Loman, Niklas" uniqKey="Loman N" first="Niklas" last="Loman">Niklas Loman</name><affiliation><nlm:aff id="aff112"><addr-line>Department of Oncology, Lund University Hospital, Lund, Sweden</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="aff113"><addr-line>N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</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="aff114"><addr-line>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="aff116"><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</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="aff116"><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</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="aff117"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Herzog, Josef" sort="Herzog, Josef" uniqKey="Herzog J" first="Josef" last="Herzog">Josef Herzog</name><affiliation><nlm:aff id="aff117"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Margileth, David" sort="Margileth, David" uniqKey="Margileth D" first="David" last="Margileth">David Margileth</name><affiliation><nlm:aff id="aff118"><addr-line>St. Joseph Hospital of Orange, Care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gorrini, Chiara" sort="Gorrini, Chiara" uniqKey="Gorrini C" first="Chiara" last="Gorrini">Chiara Gorrini</name><affiliation><nlm:aff id="aff119"><addr-line>The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, University Health Network, Toronto, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Esteller, Manel" sort="Esteller, Manel" uniqKey="Esteller M" first="Manel" last="Esteller">Manel Esteller</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff121"><addr-line>Department of Physiological Sciences II, School of Medicine, University of Barcelona, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff122"><addr-line>Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="G Mez, Antonio" sort="G Mez, Antonio" uniqKey="G Mez A" first="Antonio" last="G Mez">Antonio G Mez</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sayols, Sergi" sort="Sayols, Sergi" uniqKey="Sayols S" first="Sergi" last="Sayols">Sergi Sayols</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vidal, Enrique" sort="Vidal, Enrique" uniqKey="Vidal E" first="Enrique" last="Vidal">Enrique Vidal</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Heyn, Holger" sort="Heyn, Holger" uniqKey="Heyn H" first="Holger" last="Heyn">Holger Heyn</name><affiliation><nlm:aff id="aff120"><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</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="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff125"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U830, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff126"><addr-line>Université Paris Descartes, Sorbonne Paris Cité, Paris, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Leone, Melanie" sort="Leone, Melanie" uniqKey="Leone M" first="Melanie" last="Léoné">Melanie Léoné</name><affiliation><nlm:aff id="aff127"><addr-line>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon–Centre Léon Bérard, Lyon, France</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="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fassy Colcombet, Marion" sort="Fassy Colcombet, Marion" uniqKey="Fassy Colcombet M" first="Marion" last="Fassy-Colcombet">Marion Fassy-Colcombet</name><affiliation><nlm:aff id="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</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="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name><affiliation><nlm:aff id="aff129"><addr-line>Université Lyon 1, Centre National de la Recherche Scientifique (CNRS) UMR5558, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ferrer, Sandra Fert" sort="Ferrer, Sandra Fert" uniqKey="Ferrer S" first="Sandra Fert" last="Ferrer">Sandra Fert Ferrer</name><affiliation><nlm:aff id="aff130"><addr-line>Laboratoire de Génétique Chromosomique, Hôtel Dieu Centre Hospitalier, Chambéry, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castera">Laurent Castera</name><affiliation><nlm:aff id="aff124"><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Berthet, Pascaline" sort="Berthet, Pascaline" uniqKey="Berthet P" first="Pascaline" last="Berthet">Pascaline Berthet</name><affiliation><nlm:aff id="aff131"><addr-line>Centre François Baclesse, Caen, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cornelis, Francois" sort="Cornelis, Francois" uniqKey="Cornelis F" first="François" last="Cornelis">François Cornelis</name><affiliation><nlm:aff id="aff132"><addr-line>Genetic Unit, Avicenne Hospital, Assitance Publique-Hôpitaux de Paris, Paris, Sud-Francilien Hospital, Evry-Corbeil, and University Hospital, Clermont-Ferrand, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bignon, Yves Jean" sort="Bignon, Yves Jean" uniqKey="Bignon Y" first="Yves-Jean" last="Bignon">Yves-Jean Bignon</name><affiliation><nlm:aff id="aff133"><addr-line>Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, Clermont-Ferrand, France</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="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</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="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="aff127"><addr-line>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon–Centre Léon Bérard, Lyon, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff128"><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Maxwell, Christopher A" sort="Maxwell, Christopher A" uniqKey="Maxwell C" first="Christopher A." last="Maxwell">Christopher A. Maxwell</name><affiliation><nlm:aff id="aff134"><addr-line>Department of Pediatrics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada</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="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Robson, Mark" sort="Robson, Mark" uniqKey="Robson M" first="Mark" last="Robson">Mark Robson</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kauff, Noah" sort="Kauff, Noah" uniqKey="Kauff N" first="Noah" last="Kauff">Noah Kauff</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Corines, Marina J" sort="Corines, Marina J" uniqKey="Corines M" first="Marina J." last="Corines">Marina J. Corines</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Villano, Danylko" sort="Villano, Danylko" uniqKey="Villano D" first="Danylko" last="Villano">Danylko Villano</name><affiliation><nlm:aff id="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cunningham, Julie" sort="Cunningham, Julie" uniqKey="Cunningham J" first="Julie" last="Cunningham">Julie Cunningham</name><affiliation><nlm:aff id="aff004"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff007"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lee, Adam" sort="Lee, Adam" uniqKey="Lee A" first="Adam" last="Lee">Adam Lee</name><affiliation><nlm:aff id="aff136"><addr-line>Department of Oncology, Mayo Clinic, Rochester, Minnesota, United States of America</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="aff137"><addr-line>Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lázaro">Conxi Lázaro</name><affiliation><nlm:aff id="aff001"><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</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="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</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="aff135"><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</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="aff116"><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</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="aff004"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff007"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</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="aff002"><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pujana, Miguel Angel" sort="Pujana, Miguel Angel" uniqKey="Pujana M" first="Miguel Angel" last="Pujana">Miguel Angel Pujana</name><affiliation><nlm:aff id="aff005"><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></nlm:aff></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in <italic>HMMR</italic> (gene product RHAMM) may be associated with risk of breast cancer in <italic>BRCA1</italic> mutation carriers. Following on these observations, we further assessed the link between the <italic>AURKA-HMMR-TPX2-TUBG1</italic> functional module and risk of breast cancer in <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of <italic>HMMR</italic> rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 – 1.15, p = 1.9 x 10<sup>−4</sup> (false discovery rate (FDR)-adjusted p = 0.043). Variation in <italic>CSTF1</italic>, located next to <italic>AURKA</italic>, was also found to be associated with breast cancer risk in <italic>BRCA2</italic> mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 – 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p<sub>interaction</sub> values > 0.05) for deviations from the multiplicative model for rs299290 and <italic>CSTF1</italic> rs6064391, and rs299290 and <italic>TUBG1</italic> rs11649877 in both <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Following these suggestions, the expression of <italic>HMMR</italic> and <italic>AURKA</italic> or <italic>TUBG1</italic> in sporadic breast tumors was found to potentially interact, influencing patients’ survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in <italic>BRCA1/2</italic> mutation carriers.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Pujana, Ma" uniqKey="Pujana M">MA Pujana</name></author><author><name sortKey="Han, Jd" uniqKey="Han J">JD Han</name></author><author><name sortKey="Starita, Lm" uniqKey="Starita L">LM Starita</name></author><author><name sortKey="Stevens, Kn" uniqKey="Stevens K">KN Stevens</name></author><author><name sortKey="Tewari, M" uniqKey="Tewari M">M Tewari</name></author><author><name sortKey="Ahn, Js" uniqKey="Ahn J">JS Ahn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kalmyrzaev, B" uniqKey="Kalmyrzaev B">B Kalmyrzaev</name></author><author><name sortKey="Pharoah, Pd" uniqKey="Pharoah P">PD Pharoah</name></author><author><name sortKey="Easton, Df" 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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">25830658</article-id><article-id pub-id-type="pmc">4382299</article-id><article-id pub-id-type="doi">10.1371/journal.pone.0120020</article-id><article-id pub-id-type="publisher-id">PONE-D-14-28419</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Assessing Associations between the <italic>AURKA-HMMR-TPX2-TUBG1</italic> Functional Module and Breast Cancer Risk in <italic>BRCA1/2</italic> Mutation Carriers</article-title><alt-title alt-title-type="running-head"><italic>HMMR</italic> Functional Module and Breast Cancer Risk</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</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</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cuadras</surname><given-names>Daniel</given-names></name><xref ref-type="aff" rid="aff003"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><xref ref-type="aff" rid="aff004"><sup>4</sup></xref></contrib><contrib 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rid="aff005"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>Vernon S.</given-names></name><xref ref-type="aff" rid="aff007"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Islam</surname><given-names>Abul</given-names></name><xref ref-type="aff" rid="aff008"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mateo</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="aff005"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Berenguer</surname><given-names>Antoni</given-names></name><xref ref-type="aff" rid="aff003"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Petit</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="aff009"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Català</surname><given-names>Isabel</given-names></name><xref ref-type="aff" rid="aff009"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brunet</surname><given-names>Joan</given-names></name><xref ref-type="aff" rid="aff010"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Feliubadaló</surname><given-names>Lidia</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tornero</surname><given-names>Eva</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Benítez</surname><given-names>Javier</given-names></name><xref ref-type="aff" rid="aff011"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Osorio</surname><given-names>Ana</given-names></name><xref ref-type="aff" rid="aff011"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cajal</surname><given-names>Teresa Ramón y</given-names></name><xref ref-type="aff" rid="aff012"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nevanlinna</surname><given-names>Heli</given-names></name><xref ref-type="aff" rid="aff013"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Aittomäki</surname><given-names>Kristiina</given-names></name><xref ref-type="aff" rid="aff014"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Arun</surname><given-names>Banu K.</given-names></name><xref ref-type="aff" rid="aff015"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda E.</given-names></name><xref ref-type="aff" rid="aff016"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Karlan</surname><given-names>Beth Y.</given-names></name><xref ref-type="aff" rid="aff017"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Walsh</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff017"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lester</surname><given-names>Jenny</given-names></name><xref ref-type="aff" rid="aff017"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Mark H.</given-names></name><xref ref-type="aff" rid="aff018"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mai</surname><given-names>Phuong L.</given-names></name><xref ref-type="aff" rid="aff018"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nussbaum</surname><given-names>Robert L.</given-names></name><xref ref-type="aff" rid="aff019"><sup>19</sup></xref></contrib><contrib contrib-type="author"><name><surname>Andrulis</surname><given-names>Irene 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contrib-type="author"><name><surname>Lubinski</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="aff024"><sup>24</sup></xref></contrib><contrib contrib-type="author"><name><surname>Durda</surname><given-names>Katarzyna</given-names></name><xref ref-type="aff" rid="aff024"><sup>24</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jaworska-Bieniek</surname><given-names>Katarzyna</given-names></name><xref ref-type="aff" rid="aff024"><sup>24</sup></xref></contrib><contrib contrib-type="author"><name><surname>Claes</surname><given-names>Kathleen</given-names></name><xref ref-type="aff" rid="aff025"><sup>25</sup></xref></contrib><contrib contrib-type="author"><name><surname>Van Maerken</surname><given-names>Tom</given-names></name><xref ref-type="aff" rid="aff025"><sup>25</sup></xref></contrib><contrib contrib-type="author"><name><surname>Díez</surname><given-names>Orland</given-names></name><xref ref-type="aff" rid="aff026"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hansen</surname><given-names>Thomas V.</given-names></name><xref ref-type="aff" rid="aff027"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jønson</surname><given-names>Lars</given-names></name><xref ref-type="aff" rid="aff027"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gerdes</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="aff028"><sup>28</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ejlertsen</surname><given-names>Bent</given-names></name><xref ref-type="aff" rid="aff029"><sup>29</sup></xref></contrib><contrib contrib-type="author"><name><surname>de la Hoya</surname><given-names>Miguel</given-names></name><xref ref-type="aff" rid="aff030"><sup>30</sup></xref></contrib><contrib contrib-type="author"><name><surname>Caldés</surname><given-names>Trinidad</given-names></name><xref 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ref-type="aff" rid="aff031"><sup>31</sup></xref></contrib><contrib contrib-type="author"><name><surname>Murray</surname><given-names>Alex</given-names></name><xref ref-type="aff" rid="aff032"><sup>32</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jacobs</surname><given-names>Chris</given-names></name><xref ref-type="aff" rid="aff033"><sup>33</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pichert</surname><given-names>Gabriella</given-names></name><xref ref-type="aff" rid="aff033"><sup>33</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lalloo</surname><given-names>Fiona</given-names></name><xref ref-type="aff" rid="aff034"><sup>34</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chu</surname><given-names>Carol</given-names></name><xref ref-type="aff" rid="aff035"><sup>35</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dorkins</surname><given-names>Huw</given-names></name><xref ref-type="aff" rid="aff036"><sup>36</sup></xref></contrib><contrib contrib-type="author"><name><surname>Paterson</surname><given-names>Joan</given-names></name><xref ref-type="aff" rid="aff037"><sup>37</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ong</surname><given-names>Kai-Ren</given-names></name><xref ref-type="aff" rid="aff038"><sup>38</sup></xref></contrib><contrib contrib-type="author"><name><surname>Teixeira</surname><given-names>Manuel R.</given-names></name><xref ref-type="aff" rid="aff039"><sup>39</sup></xref></contrib><contrib contrib-type="author"><collab>Teixeira</collab><xref ref-type="aff" rid="aff040"><sup>40</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hogervorst</surname><given-names>Frans B. 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contrib-type="author"><name><surname>Bae-Jump</surname><given-names>Victoria L.</given-names></name><xref ref-type="aff" rid="aff058"><sup>58</sup></xref></contrib><contrib contrib-type="author"><name><surname>O'Malley</surname><given-names>David M.</given-names></name><xref ref-type="aff" rid="aff059"><sup>59</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ratner</surname><given-names>Elena S.</given-names></name><xref ref-type="aff" rid="aff060"><sup>60</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schmutzler</surname><given-names>Rita K.</given-names></name><xref ref-type="aff" rid="aff061"><sup>61</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wappenschmidt</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="aff061"><sup>61</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rhiem</surname><given-names>Kerstin</given-names></name><xref ref-type="aff" rid="aff061"><sup>61</sup></xref></contrib><contrib contrib-type="author"><name><surname>Engel</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="aff062"><sup>62</sup></xref></contrib><contrib contrib-type="author"><name><surname>Meindl</surname><given-names>Alfons</given-names></name><xref ref-type="aff" rid="aff063"><sup>63</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ditsch</surname><given-names>Nina</given-names></name><xref ref-type="aff" rid="aff064"><sup>64</sup></xref></contrib><contrib contrib-type="author"><name><surname>Arnold</surname><given-names>Norbert</given-names></name><xref ref-type="aff" rid="aff065"><sup>65</sup></xref></contrib><contrib contrib-type="author"><name><surname>Plendl</surname><given-names>Hansjoerg J.</given-names></name><xref ref-type="aff" rid="aff066"><sup>66</sup></xref></contrib><contrib contrib-type="author"><name><surname>Niederacher</surname><given-names>Dieter</given-names></name><xref ref-type="aff" rid="aff067"><sup>67</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sutter</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="aff068"><sup>68</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wang-Gohrke</surname><given-names>Shan</given-names></name><xref ref-type="aff" rid="aff069"><sup>69</sup></xref></contrib><contrib contrib-type="author"><name><surname>Steinemann</surname><given-names>Doris</given-names></name><xref ref-type="aff" rid="aff070"><sup>70</sup></xref></contrib><contrib contrib-type="author"><name><surname>Preisler-Adams</surname><given-names>Sabine</given-names></name><xref ref-type="aff" rid="aff071"><sup>71</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kast</surname><given-names>Karin</given-names></name><xref ref-type="aff" rid="aff072"><sup>72</sup></xref></contrib><contrib contrib-type="author"><name><surname>Varon-Mateeva</surname><given-names>Raymonda</given-names></name><xref ref-type="aff" rid="aff073"><sup>73</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gehrig</surname><given-names>Andrea</given-names></name><xref ref-type="aff" rid="aff074"><sup>74</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bojesen</surname><given-names>Anders</given-names></name><xref ref-type="aff" rid="aff075"><sup>75</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pedersen</surname><given-names>Inge Sokilde</given-names></name><xref ref-type="aff" rid="aff076"><sup>76</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sunde</surname><given-names>Lone</given-names></name><xref ref-type="aff" rid="aff077"><sup>77</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Uffe Birk</given-names></name><xref ref-type="aff" rid="aff077"><sup>77</sup></xref></contrib><contrib contrib-type="author"><name><surname>Thomassen</surname><given-names>Mads</given-names></name><xref ref-type="aff" rid="aff078"><sup>78</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kruse</surname><given-names>Torben A.</given-names></name><xref ref-type="aff" rid="aff078"><sup>78</sup></xref></contrib><contrib contrib-type="author"><name><surname>Foretova</surname><given-names>Lenka</given-names></name><xref ref-type="aff" rid="aff079"><sup>79</sup></xref></contrib><contrib contrib-type="author"><name><surname>Peterlongo</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="aff080"><sup>80</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bernard</surname><given-names>Loris</given-names></name><xref ref-type="aff" rid="aff081"><sup>81</sup></xref></contrib><contrib contrib-type="author"><name><surname>Peissel</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="aff082"><sup>82</sup></xref></contrib><contrib contrib-type="author"><name><surname>Scuvera</surname><given-names>Giulietta</given-names></name><xref ref-type="aff" rid="aff082"><sup>82</sup></xref></contrib><contrib contrib-type="author"><name><surname>Manoukian</surname><given-names>Siranoush</given-names></name><xref ref-type="aff" rid="aff082"><sup>82</sup></xref></contrib><contrib contrib-type="author"><name><surname>Radice</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="aff083"><sup>83</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ottini</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="aff084"><sup>84</sup></xref></contrib><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="aff085"><sup>85</sup></xref></contrib><contrib contrib-type="author"><name><surname>Agata</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="aff085"><sup>85</sup></xref></contrib><contrib contrib-type="author"><name><surname>Maugard</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff086"><sup>86</sup></xref></contrib><contrib contrib-type="author"><name><surname>Simard</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="aff087"><sup>87</sup></xref></contrib><contrib contrib-type="author"><name><surname>Soucy</surname><given-names>Penny</given-names></name><xref ref-type="aff" rid="aff087"><sup>87</sup></xref></contrib><contrib contrib-type="author"><name><surname>Berger</surname><given-names>Andreas</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fink-Retter</surname><given-names>Anneliese</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rappaport</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Geschwantler-Kaulich</surname><given-names>Daphne</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tea</surname><given-names>Muy-Kheng</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pfeiler</surname><given-names>Georg</given-names></name><xref ref-type="aff" rid="aff088"><sup>88</sup></xref></contrib><contrib contrib-type="author"><collab>BCFR</collab><xref ref-type="aff" rid="aff089"><sup>89</sup></xref></contrib><contrib contrib-type="author"><name><surname>John</surname><given-names>Esther M.</given-names></name><xref ref-type="aff" rid="aff090"><sup>90</sup></xref></contrib><contrib contrib-type="author"><name><surname>Miron</surname><given-names>Alex</given-names></name><xref ref-type="aff" rid="aff091"><sup>91</sup></xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L.</given-names></name><xref ref-type="aff" rid="aff092"><sup>92</sup></xref></contrib><contrib contrib-type="author"><name><surname>Terry</surname><given-names>Mary Beth</given-names></name><xref ref-type="aff" rid="aff093"><sup>93</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chung</surname><given-names>Wendy K.</given-names></name><xref ref-type="aff" rid="aff094"><sup>94</sup></xref></contrib><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mary B.</given-names></name><xref ref-type="aff" rid="aff095"><sup>95</sup></xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E.</given-names></name><xref ref-type="aff" rid="aff096"><sup>96</sup></xref></contrib><contrib contrib-type="author"><name><surname>Janavicius</surname><given-names>Ramunas</given-names></name><xref ref-type="aff" rid="aff097"><sup>97</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dorfling</surname><given-names>Cecilia M.</given-names></name><xref ref-type="aff" rid="aff098"><sup>98</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Rensburg</surname><given-names>Elisabeth J.</given-names></name><xref ref-type="aff" rid="aff098"><sup>98</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fostira</surname><given-names>Florentia</given-names></name><xref ref-type="aff" rid="aff099"><sup>99</sup></xref></contrib><contrib contrib-type="author"><name><surname>Konstantopoulou</surname><given-names>Irene</given-names></name><xref ref-type="aff" rid="aff099"><sup>99</sup></xref></contrib><contrib contrib-type="author"><name><surname>Garber</surname><given-names>Judy</given-names></name><xref ref-type="aff" rid="aff100"><sup>100</sup></xref></contrib><contrib contrib-type="author"><name><surname>Godwin</surname><given-names>Andrew K.</given-names></name><xref ref-type="aff" rid="aff101"><sup>101</sup></xref></contrib><contrib contrib-type="author"><name><surname>Olah</surname><given-names>Edith</given-names></name><xref ref-type="aff" rid="aff102"><sup>102</sup></xref></contrib><contrib contrib-type="author"><name><surname>Narod</surname><given-names>Steven A.</given-names></name><xref ref-type="aff" rid="aff103"><sup>103</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rennert</surname><given-names>Gad</given-names></name><xref ref-type="aff" rid="aff104"><sup>104</sup></xref></contrib><contrib contrib-type="author"><name><surname>Paluch</surname><given-names>Shani Shimon</given-names></name><xref ref-type="aff" rid="aff105"><sup>105</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laitman</surname><given-names>Yael</given-names></name><xref ref-type="aff" rid="aff106"><sup>106</sup></xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Eitan</given-names></name><xref ref-type="aff" rid="aff106"><sup>106</sup></xref><xref ref-type="aff" rid="aff107"><sup>107</sup></xref></contrib><contrib contrib-type="author"><collab>SWE-BRCA</collab><xref ref-type="aff" rid="aff108"><sup>108</sup></xref></contrib><contrib contrib-type="author"><name><surname>Liljegren</surname><given-names>Annelie</given-names></name><xref ref-type="aff" rid="aff109"><sup>109</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rantala</surname><given-names>Johanna</given-names></name><xref ref-type="aff" rid="aff110"><sup>110</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stenmark-Askmalm</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="aff111"><sup>111</sup></xref></contrib><contrib contrib-type="author"><name><surname>Loman</surname><given-names>Niklas</given-names></name><xref ref-type="aff" rid="aff112"><sup>112</sup></xref></contrib><contrib contrib-type="author"><name><surname>Imyanitov</surname><given-names>Evgeny N.</given-names></name><xref ref-type="aff" rid="aff113"><sup>113</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hamann</surname><given-names>Ute</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><collab>kConFab Investigators</collab><xref ref-type="aff" rid="aff115"><sup>115</sup></xref></contrib><contrib contrib-type="author"><name><surname>Spurdle</surname><given-names>Amanda B.</given-names></name><xref ref-type="aff" rid="aff116"><sup>116</sup></xref></contrib><contrib contrib-type="author"><name><surname>Healey</surname><given-names>Sue</given-names></name><xref ref-type="aff" rid="aff116"><sup>116</sup></xref></contrib><contrib contrib-type="author"><name><surname>Weitzel</surname><given-names>Jeffrey N.</given-names></name><xref ref-type="aff" rid="aff117"><sup>117</sup></xref></contrib><contrib contrib-type="author"><name><surname>Herzog</surname><given-names>Josef</given-names></name><xref ref-type="aff" rid="aff117"><sup>117</sup></xref></contrib><contrib contrib-type="author"><name><surname>Margileth</surname><given-names>David</given-names></name><xref ref-type="aff" rid="aff118"><sup>118</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gorrini</surname><given-names>Chiara</given-names></name><xref ref-type="aff" rid="aff119"><sup>119</sup></xref></contrib><contrib contrib-type="author"><name><surname>Esteller</surname><given-names>Manel</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref><xref ref-type="aff" rid="aff121"><sup>121</sup></xref><xref ref-type="aff" rid="aff122"><sup>122</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gómez</surname><given-names>Antonio</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sayols</surname><given-names>Sergi</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vidal</surname><given-names>Enrique</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref></contrib><contrib contrib-type="author"><name><surname>Heyn</surname><given-names>Holger</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref></contrib><contrib contrib-type="author"><collab>GEMO</collab><xref ref-type="aff" rid="aff123"><sup>123</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="aff124"><sup>124</sup></xref><xref ref-type="aff" rid="aff125"><sup>125</sup></xref><xref ref-type="aff" rid="aff126"><sup>126</sup></xref></contrib><contrib contrib-type="author"><name><surname>Léoné</surname><given-names>Melanie</given-names></name><xref ref-type="aff" rid="aff127"><sup>127</sup></xref></contrib><contrib contrib-type="author"><name><surname>Barjhoux</surname><given-names>Laure</given-names></name><xref ref-type="aff" rid="aff128"><sup>128</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fassy-Colcombet</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="aff124"><sup>124</sup></xref></contrib><contrib contrib-type="author"><name><surname>de Pauw</surname><given-names>Antoine</given-names></name><xref ref-type="aff" rid="aff124"><sup>124</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lasset</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff129"><sup>129</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ferrer</surname><given-names>Sandra Fert</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Castera</surname><given-names>Laurent</given-names></name><xref ref-type="aff" rid="aff124"><sup>124</sup></xref></contrib><contrib contrib-type="author"><name><surname>Berthet</surname><given-names>Pascaline</given-names></name><xref ref-type="aff" rid="aff131"><sup>131</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cornelis</surname><given-names>François</given-names></name><xref ref-type="aff" rid="aff132"><sup>132</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bignon</surname><given-names>Yves-Jean</given-names></name><xref ref-type="aff" rid="aff133"><sup>133</sup></xref></contrib><contrib contrib-type="author"><name><surname>Damiola</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="aff128"><sup>128</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mazoyer</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="aff128"><sup>128</sup></xref></contrib><contrib contrib-type="author" deceased="yes"><name><surname>Sinilnikova</surname><given-names>Olga M.</given-names></name><xref ref-type="aff" rid="aff127"><sup>127</sup></xref><xref ref-type="aff" rid="aff128"><sup>128</sup></xref></contrib><contrib contrib-type="author"><name><surname>Maxwell</surname><given-names>Christopher A.</given-names></name><xref ref-type="aff" rid="aff134"><sup>134</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vijai</surname><given-names>Joseph</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Robson</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kauff</surname><given-names>Noah</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Corines</surname><given-names>Marina J.</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Villano</surname><given-names>Danylko</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cunningham</surname><given-names>Julie</given-names></name><xref ref-type="aff" rid="aff004"><sup>4</sup></xref><xref ref-type="aff" rid="aff007"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Adam</given-names></name><xref ref-type="aff" rid="aff136"><sup>136</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lindor</surname><given-names>Noralane</given-names></name><xref ref-type="aff" rid="aff137"><sup>137</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lázaro</surname><given-names>Conxi</given-names></name><xref ref-type="aff" rid="aff001"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Kenneth</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="aff116"><sup>116</sup></xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="aff004"><sup>4</sup></xref><xref ref-type="aff" rid="aff007"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="aff002"><sup>2</sup></xref><xref rid="cor001" ref-type="corresp">*</xref></contrib><contrib contrib-type="author"><name><surname>Pujana</surname><given-names>Miguel Angel</given-names></name><xref ref-type="aff" rid="aff005"><sup>5</sup></xref><xref rid="cor001" ref-type="corresp">*</xref></contrib></contrib-group><aff id="aff001"><label>1</label><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></aff><aff id="aff002"><label>2</label><addr-line>Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom</addr-line></aff><aff id="aff003"><label>3</label><addr-line>Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></aff><aff id="aff004"><label>4</label><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America</addr-line></aff><aff id="aff005"><label>5</label><addr-line>Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></aff><aff id="aff006"><label>6</label><addr-line>Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain</addr-line></aff><aff id="aff007"><label>7</label><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></aff><aff id="aff008"><label>8</label><addr-line>Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh</addr-line></aff><aff id="aff009"><label>9</label><addr-line>Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></aff><aff id="aff010"><label>10</label><addr-line>Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Girona Biomedical Research Institute (IDIBGI), Hospital Josep Trueta, Girona, Catalonia, Spain</addr-line></aff><aff id="aff011"><label>11</label><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain</addr-line></aff><aff id="aff012"><label>12</label><addr-line>Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain</addr-line></aff><aff id="aff013"><label>13</label><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</addr-line></aff><aff id="aff014"><label>14</label><addr-line>Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland</addr-line></aff><aff id="aff015"><label>15</label><addr-line>Division of Cancer Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America</addr-line></aff><aff id="aff016"><label>16</label><addr-line>Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America</addr-line></aff><aff id="aff017"><label>17</label><addr-line>Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America</addr-line></aff><aff id="aff018"><label>18</label><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America</addr-line></aff><aff id="aff019"><label>19</label><addr-line>Department of Medicine and Genetics, University of California San Francisco, San Francisco, California, United States of America</addr-line></aff><aff id="aff020"><label>20</label><addr-line>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, and Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</addr-line></aff><aff id="aff021"><label>21</label><addr-line>Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></aff><aff id="aff022"><label>22</label><addr-line>Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America</addr-line></aff><aff id="aff023"><label>23</label><addr-line>Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik, Iceland</addr-line></aff><aff id="aff024"><label>24</label><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></aff><aff id="aff025"><label>25</label><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</addr-line></aff><aff id="aff026"><label>26</label><addr-line>Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR) and Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain</addr-line></aff><aff id="aff027"><label>27</label><addr-line>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></aff><aff id="aff028"><label>28</label><addr-line>Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></aff><aff id="aff029"><label>29</label><addr-line>Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</addr-line></aff><aff id="aff030"><label>30</label><addr-line>Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain</addr-line></aff><aff id="aff031"><label>31</label><addr-line>All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom</addr-line></aff><aff id="aff032"><label>32</label><addr-line>All Wales Medical Genetics Services, Singleton Hospital, Swansea, United Kingdom</addr-line></aff><aff id="aff033"><label>33</label><addr-line>Clinical Genetics, Guy’s and St. Thomas’ National Health Service (NHS) Foundation Trust, London, United Kingdom</addr-line></aff><aff id="aff034"><label>34</label><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, Manchester, United Kingdom</addr-line></aff><aff id="aff035"><label>35</label><addr-line>Yorkshire Regional Genetics Service, Leeds, United Kingdom</addr-line></aff><aff id="aff036"><label>36</label><addr-line>North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, United Kingdom</addr-line></aff><aff id="aff037"><label>37</label><addr-line>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom</addr-line></aff><aff id="aff038"><label>38</label><addr-line>West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare National Health Service (NHS) Trust, Edgbaston, Birmingham, United Kingdom</addr-line></aff><aff id="aff039"><label>39</label><addr-line>Department of Genetics, Portuguese Oncology Institute, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal</addr-line></aff><aff id="aff040"><label>40</label><addr-line>Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Netherlands Cancer Institute (NKI), Amsterdam, The Netherlands</addr-line></aff><aff id="aff041"><label>41</label><addr-line>Family Cancer Clinic, Netherlands Cancer Institute (NKI), Amsterdam, The Netherlands</addr-line></aff><aff id="aff042"><label>42</label><addr-line>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands</addr-line></aff><aff id="aff043"><label>43</label><addr-line>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></aff><aff id="aff044"><label>44</label><addr-line>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</addr-line></aff><aff id="aff045"><label>45</label><addr-line>Department of Human Genetics and Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands</addr-line></aff><aff id="aff046"><label>46</label><addr-line>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</addr-line></aff><aff id="aff047"><label>47</label><addr-line>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</addr-line></aff><aff id="aff048"><label>48</label><addr-line>Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</addr-line></aff><aff id="aff049"><label>49</label><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></aff><aff id="aff050"><label>50</label><addr-line>Department of Clinical Genetics, Vrije Universiteit (VU) University Medical Centre, Amsterdam, The Netherlands</addr-line></aff><aff id="aff051"><label>51</label><addr-line>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands</addr-line></aff><aff id="aff052"><label>52</label><addr-line>Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></aff><aff id="aff053"><label>53</label><addr-line>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands</addr-line></aff><aff id="aff054"><label>54</label><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Chicago, Illinois, United States of America</addr-line></aff><aff id="aff055"><label>55</label><addr-line>Division of Cancer Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia</addr-line></aff><aff id="aff056"><label>56</label><addr-line>Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America</addr-line></aff><aff id="aff057"><label>57</label><addr-line>Central Connecticut Cancer Consortium, Hartford Hospital/Helen and Harry Gray Cancer Center, Hartford, Connecticut, United States of America</addr-line></aff><aff id="aff058"><label>58</label><addr-line>Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, United States of America</addr-line></aff><aff id="aff059"><label>59</label><addr-line>Division of Gynecologic Oncology, Ohio State University, Columbus Cancer Council, Hilliard, Ohio, United States of America</addr-line></aff><aff id="aff060"><label>60</label><addr-line>Division of Gynecologic Oncology, Yale University School of Medicine, New Haven, Connecticut, United States of America</addr-line></aff><aff id="aff061"><label>61</label><addr-line>Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany</addr-line></aff><aff id="aff062"><label>62</label><addr-line>Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</addr-line></aff><aff id="aff063"><label>63</label><addr-line>Department of Gynecology and Obstetrics, Division of Tumor Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany</addr-line></aff><aff id="aff064"><label>64</label><addr-line>Department of Gynecology and Obstetrics, Ludwig-Maximilian University Munich, Munich, Germany</addr-line></aff><aff id="aff065"><label>65</label><addr-line>Department of Gynecology and Obstetrics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany</addr-line></aff><aff id="aff066"><label>66</label><addr-line>Institute of Human Genetics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany</addr-line></aff><aff id="aff067"><label>67</label><addr-line>Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></aff><aff id="aff068"><label>68</label><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></aff><aff id="aff069"><label>69</label><addr-line>Department of Gynecology and Obstetrics, University Hospital Ulm, Ulm, Germany</addr-line></aff><aff id="aff070"><label>70</label><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></aff><aff id="aff071"><label>71</label><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</addr-line></aff><aff id="aff072"><label>72</label><addr-line>Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></aff><aff id="aff073"><label>73</label><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</addr-line></aff><aff id="aff074"><label>74</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="aff075"><label>75</label><addr-line>Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark</addr-line></aff><aff id="aff076"><label>76</label><addr-line>Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark</addr-line></aff><aff id="aff077"><label>77</label><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</addr-line></aff><aff id="aff078"><label>78</label><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</addr-line></aff><aff id="aff079"><label>79</label><addr-line>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic</addr-line></aff><aff id="aff080"><label>80</label><addr-line>Fondazione Istituto di Oncologia Molecolare (IFOM), Fondazione Italiana per la Ricerca sul Cancro (FIRC), Milan, Italy</addr-line></aff><aff id="aff081"><label>81</label><addr-line>Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Cogentech Cancer Genetic Test Laboratory, Milan, Italy</addr-line></aff><aff id="aff082"><label>82</label><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></aff><aff id="aff083"><label>83</label><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></aff><aff id="aff084"><label>84</label><addr-line>Department of Molecular Medicine, "Sapienza" University, Rome, Italy</addr-line></aff><aff id="aff085"><label>85</label><addr-line>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy</addr-line></aff><aff id="aff086"><label>86</label><addr-line>Laboratoire de Diagnostic Génétique et Service d'Onco-Hématologie, Hopitaux Universitaire de Strasbourg, Centre Hospitalier Régional Universitaire (CHRU) Nouvel Hôpital Civil, Strasbourg, France</addr-line></aff><aff id="aff087"><label>87</label><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada</addr-line></aff><aff id="aff088"><label>88</label><addr-line>Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></aff><aff id="aff089"><label>89</label><addr-line>Breast Cancer Family Registry (BCFR), Cancer Prevention Institute of California, Fremont, California, United States of America</addr-line></aff><aff id="aff090"><label>90</label><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America</addr-line></aff><aff id="aff091"><label>91</label><addr-line>Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America</addr-line></aff><aff id="aff092"><label>92</label><addr-line>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America</addr-line></aff><aff id="aff093"><label>93</label><addr-line>Department of Epidemiology, Columbia University, New York, New York, United States of America</addr-line></aff><aff id="aff094"><label>94</label><addr-line>Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, United States of America</addr-line></aff><aff id="aff095"><label>95</label><addr-line>Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America</addr-line></aff><aff id="aff096"><label>96</label><addr-line>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America</addr-line></aff><aff id="aff097"><label>97</label><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, State Research Centre Institute for Innovative medicine, Vilnius, Lithuania</addr-line></aff><aff id="aff098"><label>98</label><addr-line>Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa</addr-line></aff><aff id="aff099"><label>99</label><addr-line>Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece</addr-line></aff><aff id="aff100"><label>100</label><addr-line>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, United States of America</addr-line></aff><aff id="aff101"><label>101</label><addr-line>Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America</addr-line></aff><aff id="aff102"><label>102</label><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></aff><aff id="aff103"><label>103</label><addr-line>Women's College Research Institute, University of Toronto, Toronto, Canada</addr-line></aff><aff id="aff104"><label>104</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, Haifa, Israel</addr-line></aff><aff id="aff105"><label>105</label><addr-line>The Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, Israel</addr-line></aff><aff id="aff106"><label>106</label><addr-line>The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel</addr-line></aff><aff id="aff107"><label>107</label><addr-line>Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel</addr-line></aff><aff id="aff108"><label>108</label><addr-line>Swedish BRCA1 and BRCA2 Study (SWE-BRCA), Stockholm, Sweden</addr-line></aff><aff id="aff109"><label>109</label><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></aff><aff id="aff110"><label>110</label><addr-line>Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</addr-line></aff><aff id="aff111"><label>111</label><addr-line>Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden</addr-line></aff><aff id="aff112"><label>112</label><addr-line>Department of Oncology, Lund University Hospital, Lund, Sweden</addr-line></aff><aff id="aff113"><label>113</label><addr-line>N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</addr-line></aff><aff id="aff114"><label>114</label><addr-line>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</addr-line></aff><aff id="aff115"><label>115</label><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></aff><aff id="aff116"><label>116</label><addr-line>Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia</addr-line></aff><aff id="aff117"><label>117</label><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></aff><aff id="aff118"><label>118</label><addr-line>St. Joseph Hospital of Orange, Care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, United States of America</addr-line></aff><aff id="aff119"><label>119</label><addr-line>The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, University Health Network, Toronto, Canada</addr-line></aff><aff id="aff120"><label>120</label><addr-line>Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></aff><aff id="aff121"><label>121</label><addr-line>Department of Physiological Sciences II, School of Medicine, University of Barcelona, L’Hospitalet del Llobregat, Catalonia, Spain</addr-line></aff><aff id="aff122"><label>122</label><addr-line>Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain</addr-line></aff><aff id="aff123"><label>123</label><addr-line>Groupe Genetique et Cancer (GEMO), National Cancer Genetics Network, French Federation of Comprehensive Cancer Centers (UNICANCER), Paris, France</addr-line></aff><aff id="aff124"><label>124</label><addr-line>Department of Tumour Biology, Institut Curie, Paris, France</addr-line></aff><aff id="aff125"><label>125</label><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U830, Institut Curie, Paris, France</addr-line></aff><aff id="aff126"><label>126</label><addr-line>Université Paris Descartes, Sorbonne Paris Cité, Paris, France</addr-line></aff><aff id="aff127"><label>127</label><addr-line>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon–Centre Léon Bérard, Lyon, France</addr-line></aff><aff id="aff128"><label>128</label><addr-line>Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></aff><aff id="aff129"><label>129</label><addr-line>Université Lyon 1, Centre National de la Recherche Scientifique (CNRS) UMR5558, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon, France</addr-line></aff><aff id="aff130"><label>130</label><addr-line>Laboratoire de Génétique Chromosomique, Hôtel Dieu Centre Hospitalier, Chambéry, France</addr-line></aff><aff id="aff131"><label>131</label><addr-line>Centre François Baclesse, Caen, France</addr-line></aff><aff id="aff132"><label>132</label><addr-line>Genetic Unit, Avicenne Hospital, Assitance Publique-Hôpitaux de Paris, Paris, Sud-Francilien Hospital, Evry-Corbeil, and University Hospital, Clermont-Ferrand, France</addr-line></aff><aff id="aff133"><label>133</label><addr-line>Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, Clermont-Ferrand, France</addr-line></aff><aff id="aff134"><label>134</label><addr-line>Department of Pediatrics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada</addr-line></aff><aff id="aff135"><label>135</label><addr-line>Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></aff><aff id="aff136"><label>136</label><addr-line>Department of Oncology, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></aff><aff id="aff137"><label>137</label><addr-line>Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Suzuki</surname><given-names>Hiromu</given-names></name><role>Academic Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1"><addr-line>Sapporo Medical University, JAPAN</addr-line></aff><author-notes><fn fn-type="conflict" id="coi001"><p><bold>Competing Interests: </bold>PP is an author of this study and is a member of the PLOS ONE Editorial Board; this does not alter the authors' adherence to PLOS ONE Editorial policies and criteria.</p></fn><fn fn-type="con" id="contrib001"><p>Conceived and designed the experiments: IB K. Kuchenbaecker KO GC-T FJC ACA MAP. Performed the experiments: K. Kuchenbaecker DC GRG NB ACA MAP FM. Analyzed the data: K. Kuchenbaecker DC XW DB GRG NB LM AI A. Berenguer A. Petit IC A. Gómez SS HH EV CG KO GC-T FJC ACA MAP. Contributed reagents/materials/analysis tools: IB K. Kuchenbaecker DC XW DB GRG PL AS-G JR NB LM VSP AI A. Bojesen A. Petit IC ME J. Brunet LF ET J. Benítez AO TRC HN KA BKA AET BYK CW J. Lester MHG PLM RLN ILA SMD KLN TRR RBB AJ J. Lubinski KD KJ-B KC TVM OD TVH LJ A-MG BE MH TC EMBRACE AMD CO EF M. Cook SP EM A. Murray CJ GP FL CC HD JP K-RO MRT HEBON FBLH AHH C. Sutter MGEMA MJLL PD JTW MAR HEJM-H MJBl AMWO CMA GCR K-AAP MP SRN VLB-J DMO ESR RKS BW KR CE A. Meindl ND NA HJP DN C. Singer SW-G DS SP-A K. Kast RV-M A. Gehrig A. Berger ISP LS UBJ MT TAK LF PP LB BP GS S. Mazoyer PR LO MM SA CM JS PS AB AF-R CFS CR DG-K M-KT GP BCFR EMJ A. Miron SLN MBT WKC MBD DEG RJ CMD EJR FF IK JG AKG SWE-BRCA AL JR MS-A NL ENI UH A. Gómez SS HH EV CG kConFab ABS SH JNW JH DM GEMO OMS DS-L ML S. Manoukian FD LB MF-C A. de Pauw CL SFF LC PB FC Y-JB EO SAN GR SSP YL EF CAM JV MR NK M. Corines DV JC AL NL CL DFE KO GC-T FJC ACA MAP MAD RBL. Wrote the paper: IB KK ACA MAP.</p></fn><corresp id="cor001">* E-mail: <email>aca20@medschl.cam.ac.uk</email> (ACA); <email>mapujana@iconcologia.net</email> (MAP)</corresp></author-notes><pub-date pub-type="epub"><day>1</day><month>4</month><year>2015</year></pub-date><pub-date pub-type="collection"><year>2015</year></pub-date><volume>10</volume><issue>4</issue><elocation-id>e0120020</elocation-id><history><date date-type="received"><day>25</day><month>6</month><year>2014</year></date><date date-type="accepted"><day>22</day><month>1</month><year>2015</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:type="simple" xlink:href="pone.0120020.pdf"></self-uri><abstract><p>While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in <italic>HMMR</italic> (gene product RHAMM) may be associated with risk of breast cancer in <italic>BRCA1</italic> mutation carriers. Following on these observations, we further assessed the link between the <italic>AURKA-HMMR-TPX2-TUBG1</italic> functional module and risk of breast cancer in <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of <italic>HMMR</italic> rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 – 1.15, p = 1.9 x 10<sup>−4</sup> (false discovery rate (FDR)-adjusted p = 0.043). Variation in <italic>CSTF1</italic>, located next to <italic>AURKA</italic>, was also found to be associated with breast cancer risk in <italic>BRCA2</italic> mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 – 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p<sub>interaction</sub> values > 0.05) for deviations from the multiplicative model for rs299290 and <italic>CSTF1</italic> rs6064391, and rs299290 and <italic>TUBG1</italic> rs11649877 in both <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Following these suggestions, the expression of <italic>HMMR</italic> and <italic>AURKA</italic> or <italic>TUBG1</italic> in sporadic breast tumors was found to potentially interact, influencing patients’ survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in <italic>BRCA1/2</italic> mutation carriers.</p></abstract><funding-group><funding-statement>BCFR—all. This work was supported by grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the United States Government or the BCFR. BFBOCC: BFBOCC is supported by: Lithuania (BFBOCC-LT): Research Council of Lithuania grant LIG-07/2012 and Hereditary Cancer Association (Paveldimo vėžio asociacija); Latvia (BFBOCC-LV) is partly supported by LSC grant 10.0010.08 and in part by a grant from the ESF Nr.2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016 and Liepaja's municipal council. BMBSA: BRCA-gene mutations and breast cancer in South African women (BMBSA) was supported by grants from the Cancer Association of South Africa (CANSA) to EJR. BRICOH: SLN was partially supported by the Morris and Horowitz Familes Endowed Professorship. CBCS: This work was supported by the NEYE Foundation. CNIO: This work was partially supported by Spanish Association against Cancer (AECC08), RTICC 06/0020/1060, FISPI08/1120, Mutua Madrileña Foundation (FMMA) and SAF2010-20493. COH-CCGCRN: City of Hope Clinical Cancer Genetics Community Network and the Hereditary Cancer Research Registry, supported in part by Award Number RC4CA153828 (PI: JW) from the National Cancer Institute and the Office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. CONSIT TEAM: Funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5x1000’) to SM. Italian Association for Cancer Research (AIRC) to LO. CORE: The CIMBA data management and data analysis were supported by Cancer Research—United Kingdom grants C12292/A11174 and C1287/A10118. SH is supported by an NHMRC Program Grant to GCT. ACA is a Cancer Research -United Kingdom Senior Cancer Research Fellow. GCT is an NHMRC Senior Principal Research Fellow. DKFZ: The DKFZ study was supported by the DKFZ. DEMOKRITOS: This research has been co-financed by the European Union (European Social Fund—ESF) and Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework (NSRF)—Research Funding Program of the General Secretariat for Research & Technology: ARISTEIA. Investing in knowledge society through the European Social Fund. EMBRACE: EMBRACE is supported by Cancer Research United Kingdom Grants C1287/A10118 and C1287/A11990. DGE and FL are supported by an National Institute of Health Research (NIHR) grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. RE and EB are supported by Cancer Research United Kingdom Grant C5047/A8385. FCCC: The authors acknowledge support from The University of Kansas Cancer Center (P30 CA168524) and the Kansas Bioscience Authority Eminent Scholar Program. AKG was funded by 5U01CA113916, R01CA140323, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. GC-HBOC: The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) is supported by the German Cancer Aid (grant no 109076, RKS) and by the Center for Molecular Medicine Cologne (CMMC). GEMO: The study was supported by the Ligue National Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award; and the Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program. G-FAST: TVM is a postdoctoral researcher funded by the Fund for Scientific Research Flanders (FWO). GOG: This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group (GOG) Administrative Office and Tissue Bank (CA 27469), the GOG Statistical and Data Center (CA 37517), and GOG's Cancer Prevention and Control Committee (CA 101165). MHG, PLM and Dr. Savage were supported by funding from the Intramural Research Program, NCI. HCSC: Was supported by a grant RD12/00369/0006 and 12/00539 from ISCIII (Spain), partially supported by European Regional Development FEDER funds. HEBCS: The HEBCS was financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society and the Sigrid Juselius Foundation. HEBON: The HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the Netherlands Organization of Scientific Research grant NWO 91109024, the Pink Ribbon grant 110005 and the BBMRI grant NWO 184.021.007/CP46. HUNBOCS: Hungarian Breast and Ovarian Cancer Study was supported by Hungarian Research Grant KTIA-OTKA CK-80745 and the Norwegian EEA Financial Mechanism HU0115/NA/2008-3/ÖP-9. ICO: The ICO-IDIBELL study was supported by grants from the Spanish Ministry of Health ISCIII FIS (PI10/01422, PI12/01528, and PI13/00285) and RTICC (RD12/0036/0008); the Ramón Areces (XV), Eugenio Rodríguez Pascual (2012), and Roses Contra el Cancer (2012) Foundations; the Spanish Association Against Cancer (AECC 2010); and the AGAUR Generalitat de Catalunya (2009-SGR290 and 2009-SGR293). IHCC: The IHCC was supported by Grant PBZ_KBN_122/P05/2004; Katarzyna Jaworska is a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University, supported by the Polish Foundation of Science. ILUH: The ILUH group was supported by the Icelandic Association “Walking for Breast Cancer Research”, by the Nordic Cancer Union and by the Landspitali University Hospital Research Fund. INHERIT: This work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program, the Canadian Breast Cancer Research Alliance-grant #019511 and the Ministry of Economic Development, Innovation and Export Trade—grant # PSR-SIIRI-701. IOVHBOCS: The study was supported by Ministero dell'Istruzione, dell'Università e della Ricerca and Ministero della Salute. IPOBCS: This study was in part supported by Liga Portuguesa Contra o Cancro. KCONFAB: kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. GCT and ABS are NHMRC Senior Research Fellows. MAYO: MAYO is supported by National Institutes of Health grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a United States Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341) and grants from the Breast Cancer Research Foundation. MCGILL: Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. MODSQUAD: The work was supported by the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101) and MH CZ—DRO (MMCI, 00209805). MSKCC: MSKCC is supported by Breast Cancer Research Foundation, the Niehaus Family Genetics Research Fund, and the STARR Cancer Consortium Grants. NAROD: 1R01 CA149429-01. NCI: The research of MHG and PLM was supported by the NCI Intramural Research Program, National Institutes of Health, and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Inc, Rockville, Maryland. This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group (GOG) Administrative Office and Tissue Bank (CA 27469), the GOG Statistical and Data Center (CA 37517), and GOG's Cancer Prevention and Control Committee (CA 101165). NICCC: NICCC is supported by Clalit Health Services in Israel. Some of it's activities are supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), New York. NNPIO: This work has been supported by the Russian Federation for Basic Research (grants 11-04-00227, 12-04-00928 and 12-04-01490) and the Federal Agency for Science and Innovations, Russia (contract 02.740.11.0780). OCGN: This work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program and grant UM1 CA164920 from the National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the United States Government or the BCFR. OSU CCG: OSUCCG is supported by the Ohio State University Comprehensive Cancer Center. SMC: This project was partially funded through a grant by the Isreal cancer association and the funding for the Israeli Inherited breast cancer consortium. SWE-BRCA: SWE-BRCA collaborators are supported by the Swedish Cancer Society. UCHICAGO: UCHICAGO is supported by NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032 and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women's Cancer Research Alliance and the Breast Cancer research Foundation. OIO is an ACS Clinical Research Professor. UCSF: UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center. UPENN: National Institutes of Health (NIH) (R01-CA102776 and R01-CA083855; Breast Cancer Research Foundation; Rooney Family Foundation; Susan G. Komen Foundation for the cure, Basser Research Center for BRCA. WCP: The Women's Cancer Program (WCP) at the Samuel Oschin Comprehensive Cancer Institute is funded by the American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.</funding-statement></funding-group><counts><fig-count count="4"></fig-count><table-count count="1"></table-count><page-count count="18"></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.</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.</p></notes></front><body><sec sec-type="intro" id="sec001"><title>Introduction</title><p>An integrative genomics study generated a breast cancer network model that predicted novel genetic and molecular relationships for breast cancer tumor suppressors [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>]. Among the predictions, the product of the hyaluronan-mediated motility receptor (<italic>HMMR</italic>) gene, RHAMM, was found to be biochemically and functionally linked to the breast cancer gene, early onset 1 gene product (BRCA1) [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>]. Analysis of common genetic variation in <italic>HMMR</italic> suggested an association with breast cancer risk in Ashkenazi Jewish women, with a greater increased risk in younger individuals [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>]. However, this association was not observed either in a European case-control study [<xref rid="pone.0120020.ref002" ref-type="bibr">2</xref>] or in a genome-wide association study in postmenopausal women of European ancestry [<xref rid="pone.0120020.ref003" ref-type="bibr">3</xref>].</p><p>Following the initial functional evidence, a molecular mechanism involving RHAMM and BRCA1 was found to regulate mammary epithelial apicobasal polarization and, possibly, differentiation [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. The results from this study indicated that RHAMM and BRCA1 play a central role in the cytoskeletal reorganization necessary for epithelial polarization. This functional interplay included interactions with the product of the proto-oncogene aurora kinase A (AURKA) and its major regulator, targeting protein for Xklp2 (TPX2), in addition to g-tubulin (TUBG1) [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. In this scenario, cell proliferation is endorsed by activated AURKA while polarization and differentiation are mediated by activation of BRCA1 and degradation of RHAMM. Intriguingly, the same <italic>HMMR</italic> variation as originally detected in the Ashkenazi Jewish population was suggested to be associated with breast cancer risk in <italic>BRCA1</italic>, but not in <italic>BRCA2</italic> mutation carriers [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. This observation was endorsed by complementary analyses in breast cancer tissue; specifically, loss of cell polarity was revealed in <italic>in situ</italic> breast tissue lesions of <italic>BRCA1</italic> mutation carriers and, accordingly, increased staining of phospho-T703-RHAMM (target of AURKA) was preferentially detected in estrogen receptor α (ERα)-negative and <italic>BRCA1</italic>-mutated tumors [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>].</p><p>While the <italic>HMMR</italic> association study in <italic>BRCA1/2</italic> mutation carriers drew on a partial dataset from the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic> (CIMBA), the depicted mechanistic model highlighted additional gene candidates for breast cancer risk; i.e., <italic>AURKA</italic>, <italic>TPX2</italic>, and <italic>TUBG1</italic> [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. In a previous CIMBA study, no evidence of association was found between functional variation in <italic>AURKA</italic> and breast cancer risk among <italic>BRCA1/2</italic> mutation carriers [<xref rid="pone.0120020.ref005" ref-type="bibr">5</xref>]. However, these results were based on a more limited CIMBA dataset (4,935 <italic>BRCA1</italic> and 2,241 <italic>BRCA2</italic> mutation carriers) and did not comprehensively assess variation in the <italic>AURKA</italic> genomic region. Furthermore, variation in <italic>TUBG1</italic> was found to be associated with breast cancer risk in a hospital-based case-control study [<xref rid="pone.0120020.ref006" ref-type="bibr">6</xref>], but has not been assessed in <italic>BRCA1/2</italic> mutation carriers.</p><p>In addition to multiplicative allele effects, systematic analyses in model organisms have shown that a given phenotype may be substantially determined by genetic interactions (GxG); that is, “epistasis” in statistical terms, defined as deviation from additivity for a quantitative phenotype arising from the effect of genetic variants or mutations in another locus [<xref rid="pone.0120020.ref007" ref-type="bibr">7</xref>]. Importantly, GxG significantly overlap with other types of gene and/or protein relationships [<xref rid="pone.0120020.ref008" ref-type="bibr">8</xref>–<xref rid="pone.0120020.ref010" ref-type="bibr">10</xref>]. Therefore, the functional interplay between the aforementioned genes/proteins in a key mammary epithelial cell process could support the existence of genetic interactions that influence cancer risk.</p><p>In the present study, given previous evidence of 1) the functional interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 in mammary epithelial polarization [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>], and 2) the potential modification of breast cancer risk in <italic>BRCA1</italic> mutation carriers by common genetic variation in <italic>HMMR</italic> [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>], we further assessed the association between variants in <italic>AURKA-HMMR-TPX2-TUBG1</italic> and breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. Genotyped variants from the custom Illumina iSelect array of the Collaborative Oncological Gene-environment Study (iCOGS) were analyzed in a large series of <italic>BRCA1/2</italic> mutation carriers [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>,<xref rid="pone.0120020.ref012" ref-type="bibr">12</xref>].</p></sec><sec sec-type="materials|methods" id="sec002"><title>Materials and Methods</title><sec id="sec003"><title>Study Subjects and Ethics Statement</title><p><italic>BRCA1/2</italic> mutation carriers were recruited under the CIMBA initiative following approval of the corresponding protocol by the institutional review board or ethics committee at each participating center, and written informed consent was obtained from the patients when required [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>,<xref rid="pone.0120020.ref012" ref-type="bibr">12</xref>]. Sixty CIMBA study centers recruited 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> mutation carriers that passed quality control assessment in this study. Most of these individuals were recruited through cancer genetics clinics and enrolled into national or regional studies. The remaining carriers were identified by population-based sampling or community recruitment. Eligibility in CIMBA was restricted to female carriers of pathogenic <italic>BRCA1</italic> and <italic>BRCA2</italic> mutations who were ≥ 18 years old at recruitment. Information collected included year of birth, mutation description, self-reported ethnicity, age at last follow-up, ages at breast or ovarian cancer diagnosis, and age at bilateral prophylactic mastectomy or oophorectomy. Information regarding tumor characteristics, including ERα status, was collected for 3,458 <italic>BRCA1</italic> and 1,924 <italic>BRCA2</italic> mutation carriers. Related individuals were identified by a unique family identifier.</p></sec><sec id="sec004"><title>iCOGS Design</title><p>The iCOGS array, genotyping and quality controls for the CIMBA <italic>BRCA1/2</italic> mutation carrier samples have been described recently [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>,<xref rid="pone.0120020.ref012" ref-type="bibr">12</xref>]. The final array design included 211,155 manufactured SNPs that were selected on the basis of primary evidence from genome-wide association studies (GWASs) of breast, ovarian and prostate cancer, for fine mapping of known cancer susceptibility loci, and included functional candidate variants of interest [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>–<xref rid="pone.0120020.ref015" ref-type="bibr">15</xref>] (also see <ext-link ext-link-type="uri" xlink:href="http://www.nature.com/icogs/primer/cogs-project-and-design-of-the-icogs-array/">http://www.nature.com/icogs/primer/cogs-project-and-design-of-the-icogs-array/</ext-link> and <ext-link ext-link-type="uri" xlink:href="http://ccge.medschl.cam.ac.uk/research/consortia/icogs/">http://ccge.medschl.cam.ac.uk/research/consortia/icogs/</ext-link>). Details of the iCOGS array design have been described elsewhere [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>–<xref rid="pone.0120020.ref015" ref-type="bibr">15</xref>]. The genotype data used in this study are available upon request from the CIMBA Data Access Coordinating Committee (contact A.C.A.).</p></sec><sec id="sec005"><title>Association Study</title><p>Based on previous GWAS results for <italic>BRCA1</italic> [<xref rid="pone.0120020.ref016" ref-type="bibr">16</xref>] and <italic>BRCA2</italic> [<xref rid="pone.0120020.ref017" ref-type="bibr">17</xref>] mutation carriers, and on the selection of gene candidates, the iCOGS array included SNPs in the <italic>AURKA</italic> (n = 15), <italic>HMMR</italic> (n = 14), <italic>TPX2</italic> (n = 3) and <italic>TUBG1</italic> (n = 4) loci (defined as ± 20 kilobases (kb) from the genomic structure of each gene), and these were analyzed in the present study (<bold><xref rid="pone.0120020.s002" ref-type="supplementary-material">S1 Table</xref></bold>). In addition, we analyzed five SNPs proximal to the <italic>HMMR</italic> locus that provided some suggestion of association with breast cancer risk in Ashkenazi Jewish women [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>] (<bold><xref rid="pone.0120020.s002" ref-type="supplementary-material">S1 Table</xref></bold>). In total, these SNPs represented 32 partially independent variants (pairwise r<sup>2</sup> < 0.85). To account for multiple testing, we used a FDR approach for the 41 genotyped SNPs that were evaluated for their associations with breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers; significant results are reported for FDR < 5%. The main analyses focused on evaluating associations between each genotype and breast cancer or ovarian cancer risk separately, in a survival analysis framework. In the breast cancer analysis, the phenotype of each individual was defined by age at breast cancer diagnosis or age at last follow-up. Individuals were followed until the age of the first breast or ovarian cancer diagnosis or bilateral prophylactic mastectomy, whichever occurred first, or until age at last observation. Mutation carriers censored at ovarian cancer diagnosis were considered to be unaffected. For the ovarian cancer analysis, the primary endpoint was the age at ovarian cancer diagnosis, and mutation carriers were followed until the age of ovarian cancer diagnosis or risk-reducing salpingo-oophorectomy, or until age at last observation. In order to maximize the number of ovarian cancer cases, breast cancer was not considered to be a censoring event in this analysis, and mutation carriers who developed ovarian cancer after breast cancer diagnosis were considered affected in the ovarian cancer analysis. To adjust for the non-random sampling of mutation carriers with respect to their disease status, data were analyzed by modeling the retrospective likelihood of the observed genotypes conditional on the disease phenotypes [<xref rid="pone.0120020.ref018" ref-type="bibr">18</xref>]. The associations were assessed using the 1-degree of freedom score test statistic based on this retrospective likelihood. To allow for the non-independence among related individuals, the correlation between the genotypes was taken into account using a kinship-adjusted version of the score test statistic [<xref rid="pone.0120020.ref016" ref-type="bibr">16</xref>]. The p values presented were based on the adjusted score test. To estimate the HRs, the effect of each SNP was modeled as either a per-allele or genotype on the log-scale by maximizing the retrospective likelihood. The evidence of heterogeneity in the associations between countries/study-centers was also evaluated. Associations with breast and ovarian cancer risks were assessed simultaneously within a competing risk analysis framework [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>,<xref rid="pone.0120020.ref018" ref-type="bibr">18</xref>]. The significant FDR-adjusted associations (for rs299290 in <italic>HMMR</italic> and for rs2426618 in <italic>AURKA</italic>/<italic>CSTF1</italic>) were subsequently explored using imputed genotypes based on data from the 1,000 Genomes project (March 2012 version [<xref rid="pone.0120020.ref019" ref-type="bibr">19</xref>]). The IMPUTE2 software [<xref rid="pone.0120020.ref020" ref-type="bibr">20</xref>] was used for imputation of non-genotyped SNPs. Associations of each marker with cancer risk were assessed using a similar score test to that used for the genotyped SNPs, but based on the posterior genotype probabilities at each imputed marker for each individual. In all analyses, only those SNPs with an imputation information/accuracy of r<sup>2</sup> > 0.30 and a minor allele frequency (MAF) > 0.3 were considered. The haplotypes and their posterior probabilities were estimated using the expectation-maximization algorithm [<xref rid="pone.0120020.ref021" ref-type="bibr">21</xref>]. Only the four <italic>HMMR</italic> haplotypes with the highest probabilities were considered; the rest were grouped into a single rare haplotype. Each carrier was assigned the most likely haplotypes and the association between haplotypes and age at breast cancer diagnosis was evaluated using a standard Cox proportional hazards model. All possible pairwise gene interactions including rs299290 or rs2426618 were evaluated using a standard Cox proportional hazards model that considered the main effects and the interaction term.</p></sec><sec id="sec006"><title>Expression Analysis</title><p>The association between gene expression and survival after breast cancer diagnosis was assessed using the NKI-295 dataset of sporadic primary breast tumors [<xref rid="pone.0120020.ref022" ref-type="bibr">22</xref>,<xref rid="pone.0120020.ref023" ref-type="bibr">23</xref>] and a standard Cox proportional hazards model. All possible pairwise gene interactions including <italic>HMMR</italic> or <italic>AURKA</italic> microarray probes (2 and 1 probes, respectively) were evaluated using this model. The quantitative analysis of <italic>HMMR</italic> expression isoforms was carried out using mRNA extracted from lymphoblastoid cell lines of nine rs299290-TT and six rs299290-CC <italic>BRCA2</italic> mutation carriers, and the following TaqMan (Applied Biosystems) probes in real-time PCR assays: hs01063269 for total <italic>HMMR</italic> expression; hs0106328 for the inclusion of exon 4; and hs00234864 for the inclusion of exon 11.</p></sec><sec id="sec007"><title>Genome Analyses</title><p>Data for formaldehyde-assisted isolation of regulatory elements (FAIREs) that marked transcriptionally active regions in normal human mammary epithelial cells (HMECs) were downloaded from the Gene Expression Omnibus (GEO) reference GSE46074 [<xref rid="pone.0120020.ref024" ref-type="bibr">24</xref>]. Sequence reads were trimmed for the adaptor, masked for low-complexity and low-quality sequences/reads and subsequently aligned to the genome version hg19 using TopHat [<xref rid="pone.0120020.ref025" ref-type="bibr">25</xref>] with default parameters. Peaks were called using HOMER [<xref rid="pone.0120020.ref026" ref-type="bibr">26</xref>], applying a triangle-based distribution, a median length of 150 base pairs, and an α value of 0.01 (99.0% CI). Replicates were analyzed individually and uniquely merged using BEDTools [<xref rid="pone.0120020.ref027" ref-type="bibr">27</xref>]. Chromatin immunoprecipitation data of ERα were downloaded from the GEO reference GSE32222 and analyzed with MACS (version 2.0.9; macs2diff function) [<xref rid="pone.0120020.ref028" ref-type="bibr">28</xref>]. Significance was defined as a false discovery rate < 1%, using default values for all other parameters. Differentially bound genomic regions were assigned to the closest ENSEMBL (version 62) annotated gene using the R-Bioconductor package ChIPpeakAnno [<xref rid="pone.0120020.ref029" ref-type="bibr">29</xref>]. Histone modification and chromatin segmentation data in HMECs were obtained from the UCSC Genome Browser (hg19) and correspond to the GEO references GSE29611 and GSE38163, respectively, deposited by the ENCODE project [<xref rid="pone.0120020.ref030" ref-type="bibr">30</xref>].</p></sec><sec id="sec008"><title>Evolutionary analysis of BRCA1 and RHAMM</title><p>The full-length nucleotide and protein sequences from 20 (for <italic>BRCA1</italic>/BRCA1) and 26 (for <italic>HMMR</italic>/RHAMM) mammalian species, which included human and naked mole rat, were downloaded from the OrthoMaM 2.0 database [<xref rid="pone.0120020.ref031" ref-type="bibr">31</xref>] (<bold><xref rid="pone.0120020.s003" ref-type="supplementary-material">S2 Table</xref></bold>). For evolutionary analysis, a multiple sequence alignment (MSA) of the corresponding amino acid sequences was generated using the algorithm implemented in PRANK v.140110 [<xref rid="pone.0120020.ref032" ref-type="bibr">32</xref>]. To prevent the inclusion of incorrectly aligned positions, all MSA positions with low statistical support (posterior probabilities < 0.99) in the PRANK alignment were excluded. Next, the high-quality protein MSAs were used as guide in the alignment of the corresponding coding sequences (CDS MSAs). The level of functional constraints acting on the coding regions of both genes was analyzed using the maximum likelihood method implemented in the <italic>codeml</italic> program of PAML v.4 [<xref rid="pone.0120020.ref033" ref-type="bibr">33</xref>]; this approach allows to estimate the non-synonymous (<italic>d</italic><sub>N</sub>) to synonymous (<italic>d</italic><sub>S</sub>) ratio (ω) in a particular coding region by using a codon-based evolutionary model under a phylogenetic framework, allowing comparison of their fit to the data by the likelihood ratio test (LRT). In particular, the goodness-of-fit of two nested evolutionary models was compared: the M7 model, which assumes a <italic>β</italic> distribution of ω across sites between 0 and 1 (0 ≤ ω ≤ 1); and the M8 model, which adds to M7 an extra category of positively selected sites (ω > 1). To reduce the probability of false positive results from the M7-M8 comparison, we also estimated the likelihood of the data under the model M8a [<xref rid="pone.0120020.ref034" ref-type="bibr">34</xref>], in which ω was set to 1. The posterior probabilities for each site of belonging to the positively selected class were computed using the Bayes empirical Bayes approach in <italic>codeml</italic> [<xref rid="pone.0120020.ref035" ref-type="bibr">35</xref>]. In all models, the topology of the mammalian phylogenetic tree assumed in OrthoMaM database was used (<bold><xref rid="pone.0120020.s003" ref-type="supplementary-material">S2 Table</xref></bold>).</p></sec></sec><sec sec-type="results" id="sec009"><title>Results</title><sec id="sec010"><title><italic>HMMR</italic> rs299290 Association</title><p>The product of the <italic>HMMR</italic> gene, RHAMM, interacts with BRCA1 in the control of mammary epithelial polarization and this function may be at the basis of a modification of breast cancer risk in <italic>BRCA1</italic> mutation carriers [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. In this iCOGS <italic>BRCA1/2</italic> study, 14 SNPs (11 with pairwise r<sup>2</sup> < 0.85) at the <italic>HMMR</italic> locus were genotyped in 15,252 <italic>BRCA1</italic> and 8,211 <italic>BRCA2</italic> mutation carriers from 60 participating centers. Among these variants, the strongest evidence of association with breast cancer risk in <italic>BRCA1</italic> mutation carriers was observed for the originally reported SNP rs299290 [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>] (MAF = 0.25): <italic>BRCA1</italic> per-allele HR = 1.10, 95% CI 1.04–1.15, p = 1.9 x 10<sup>−4</sup> (FDR-adjusted p = 0.043, accounting for 41 genotyped SNPs used in the association analyses in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers). In contrast, no evidence of association was obtained between <italic>HMMR</italic> variation and breast cancer risk in <italic>BRCA2</italic> mutation carriers; specifically, rs299290 per-allele HR = 0.98, 95% CI 0.92–1.05, p = 0.57. The effect among <italic>BRCA1</italic> mutation carriers was consistent across most participating countries (<bold><xref rid="pone.0120020.g001" ref-type="fig">Fig. 1A</xref></bold>) and no heterogeneity was detected (p<sub>heterogeneity</sub> ≥ 0.30). Importantly, the <italic>BRCA1</italic> association remained after excluding the centers participating in the original study [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]: n = 5,039, rs299290 per-allele HR = 1.13, 95% CI 1.04–1.22, p = 0.005.</p><fig id="pone.0120020.g001" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0120020.g001</object-id><label>Fig 1</label><caption><title>The <italic>HMMR</italic> locus and breast cancer risk in <italic>BRCA1</italic> mutation carriers.</title><p>(<bold>A</bold>) Forest plots showing rs299290 HRs and 95% CIs (retrospective likelihood trend estimation) for participating countries (relatively small sample sets are not shown) ordered by sample size. Left and right panels show results for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, respectively. The sizes of the rectangles are proportional to the corresponding country/study precision. (<bold>B</bold>) The rs299290-containing region, including the genes, variation and regulatory evidence mentioned in HMECs. Exons are marked by black-filled rectangles and the direction of transcription is marked by arrows in the genomic structure. The chromosome 5 positions (base pairs (bp)) and linkage disequilibrium structure from Caucasian HapMap individuals are also shown.</p></caption><graphic xlink:href="pone.0120020.g001"></graphic></fig><p>Although the original Ashkenazi Jewish population study suggested associations involving SNPs proximal to <italic>HMMR</italic> (∼450 kb proximal) [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>], no evidence of association in <italic>BRCA1/2</italic> mutation carriers was obtained for five correlated variants in this region (<bold><xref rid="pone.0120020.s002" ref-type="supplementary-material">S1 Table</xref></bold>). With respect to rs299290 and ovarian cancer risk, no evidence of association was found under the single disease risk model or the competing risks model (p > 0.65; only breast cancer risk in <italic>BRCA1</italic> mutation carriers was significant in this model: p = 2.5 x 10<sup>−4</sup>). Together, these results corroborate the association between variation at the <italic>HMMR</italic> locus and breast cancer risk in <italic>BRCA1</italic> mutation carriers.</p></sec><sec id="sec011"><title>Mapping the <italic>HMMR</italic> locus association</title><p>Allelic imputation within ∼60 kb centered on <italic>HMMR</italic> (fully including the proximal genes <italic>CCNG1</italic> and <italic>NUDCD2</italic>) did not detect substantially stronger associations than those identified for rs299290: a variant located in <italic>HMMR</italic> intron 7 (rs61292050; <bold><xref rid="pone.0120020.g001" ref-type="fig">Fig. 1B</xref></bold>) was found to be similarly associated (p = 2.7 x 10<sup>−4</sup>), but this was correlated with rs299290 (r<sup>2</sup> = 0.95). Haplotype analyses were then carried out to demarcate the <italic>HMMR</italic> genomic region potentially harboring a causative variant or mutation. Using the 14 SNPs genotyped in iCOGS, two haplotypes, both characterized by the minor allele of rs299290, were found to be associated with breast cancer risk in <italic>BRCA1</italic> mutation carriers (<bold><xref rid="pone.0120020.s004" ref-type="supplementary-material">S3 Table</xref></bold>). Based on these haplotypes, the minimal region harboring a mutation could be delimited to ∼28 kb between rs299284 and rs10038157 (<bold><xref rid="pone.0120020.s004" ref-type="supplementary-material">S3 Table</xref></bold>).</p></sec><sec id="sec012"><title>Analysis of the potential causative variant</title><p>The rs299290 variant represents a missense amino-acid change in <italic>HMMR</italic> exon 11 that is predicted to be benign/neutral/tolerated by several algorithms: Valine 369 to Alanine in accession number NP_001136028.1; MutationAssessor score = 0; Polyphen score = 0.005; and SIFT score = 0.73. Subsequent examination of the splicing of exon 11 and of exon 4, the latter of which is known to be differentially spliced in different conditions and cell types [<xref rid="pone.0120020.ref036" ref-type="bibr">36</xref>], did not reveal alterations or differences between mRNA samples with different rs299290 genotypes (<bold><xref rid="pone.0120020.s001" ref-type="supplementary-material">S1 Fig.</xref></bold>). Nonetheless, rs299290 is located ∼14 kb from the <italic>HMMR</italic> promoter region that is active in mammary epithelial cells, as detected by the analysis of data from genome occupancy profiling [<xref rid="pone.0120020.ref024" ref-type="bibr">24</xref>] (<bold><xref rid="pone.0120020.g001" ref-type="fig">Fig. 1B</xref></bold>). In addition, analysis of data for ERα binding plasticity [<xref rid="pone.0120020.ref037" ref-type="bibr">37</xref>] revealed significant binding of this factor at the <italic>HMMR</italic> promoter in poor-prognosis breast tumors (<bold><xref rid="pone.0120020.g001" ref-type="fig">Fig. 1B</xref></bold>).</p><p>Causal alleles for different common diseases have shown evidence of positive selection [<xref rid="pone.0120020.ref038" ref-type="bibr">38</xref>]. Notably, a recent report suggested the action of positive selection on the evolution of BRCA1 and RHAMM orthologs in the naked mole rat, which is an exceptionally cancer-resistant species [<xref rid="pone.0120020.ref039" ref-type="bibr">39</xref>]. Following on from this suggestion, we identified footprints of positive selection in the evolution of some amino acids of both proteins. In both cases, model M8 (selection model) better fits the protein alignment data than model M7 (null model): p values = 6.69 x 10<sup>−14</sup> and 1.55 x 10<sup>−5</sup>, for BRCA1 and RHAMM, respectively. Moreover, the likelihood of the data is significantly higher under model M8 than under the nested model M8a: p values = 6.22 x 10<sup>−10</sup> and 0.014 for BRCA1 and RHAMM, respectively, confirming the presence of positively selected sites in these alignments. However, Valine 369 RHAMM was not identified in these analyses; the predicted amino acid sites under selection were only linked to rare variants (MAFs < 0.01) (<bold><xref rid="pone.0120020.s005" ref-type="supplementary-material">S4 Table</xref></bold>). Nonetheless, as suggested in the analysis of the naked mole rat sequence, Valine 369 is within a region with a potential excess of selected positions (<bold><xref rid="pone.0120020.g002" ref-type="fig">Fig. 2A</xref></bold>). Analysis of BRCA1 also showed multiple potential selection sites (<bold><xref rid="pone.0120020.g002" ref-type="fig">Fig. 2B</xref></bold>), but the specific region or domain mediating the interaction with RHAMM remains unknown [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>,<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>,<xref rid="pone.0120020.ref040" ref-type="bibr">40</xref>].</p><fig id="pone.0120020.g002" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0120020.g002</object-id><label>Fig 2</label><caption><title>Candidate amino acid sites under positive selection in RHAMM and BRCA1.</title><p>(<bold>A</bold>) Plot showing the position of potentially selected sites (p (w > 1)) in the amino acid sequence of RHAMM. The relative position of known protein domains is shown. (<bold>B</bold>) Plot showing the position of potentially selected sites (p (w > 1)) in the amino acid sequence of BRCA1. The relative position of known protein domains is shown.</p></caption><graphic xlink:href="pone.0120020.g002"></graphic></fig></sec><sec id="sec013"><title>Evaluation of <italic>HMMR</italic> association by ERα tumor status and <italic>BRCA1</italic> mutation class</title><p>The original study suggested an association between the rs299290 risk allele and ERα-negative breast cancer for <italic>BRCA1</italic> mutation carriers [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. In the present study, no difference was found in the rs299290 effect between ERα-negative and ERα-positive cases: ERα-negative, per-allele HR = 1.09, 95% CI 1.03–1.15, p = 2.3 x 10<sup>−3</sup>; ERα-positive, per-allele HR = 1.09, 95% CI 0.98–1.21, p = 0.13; p<sub>difference</sub> = 0.96. Interestingly, there was a suggestion of an rs299290 association with ERα-negative breast cancer for <italic>BRCA2</italic> mutation carriers, but in the opposite direction to that observed for <italic>BRCA1</italic> mutation carriers: ERα-negative <italic>BRCA2</italic> mutation carriers n = 434, per-allele HR = 0.83, 95% CI 0.70–0.97, p = 0.022. In addition, there was no evidence of an rs299290 association with ERα-positive breast cancer in <italic>BRCA2</italic> mutation carriers (n = 1,490, p = 0.40, ERα-negative effect p<sub>difference</sub> = 0.019).</p><p>Regarding <italic>BRCA1</italic> mutation classes, the original study [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>] suggested a rs299290 association in carriers of mutations expected to result in a reduced transcript or protein level due to nonsense-mediated RNA decay (Class 1), but not in carriers of mutations likely to generate stable proteins with a potential residual or dominant-negative function (Class 2). The current study indicated a similar association, although the estimations were not significantly different: Class 1, rs299290 per-allele HR = 1.11, 95% CI 1.05–1.18, p = 4.6 x 10<sup>−4</sup>; Class 2, rs299290 per-allele HR = 1.03, 95% CI 0.94–1.14, p = 0.51. Regarding Ashkenazi Jewish <italic>BRCA1</italic> mutation carriers (n = 1,231), there were no significant associations in this population or with founder mutations (185delAG HR = 0.94, p = 0.17; and 5382insC HR = 0.85, p = 0.10). Larger sample series may be required to assess associations in these settings and their consistency with previous observations in the Ashkenazi Jewish population [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>].</p></sec><sec id="sec014"><title><italic>AURKA/CSTF1</italic> association with breast cancer risk in <italic>BRCA2</italic> mutation carriers</title><p>As the <italic>HMMR</italic> and <italic>AURKA-TPX2-TUBG1</italic> gene products are functionally related in the regulation of mammary epithelial polarization [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>], the associations between variants at these loci that were included on the iCOGS array and cancer risk in <italic>BRCA1/2</italic> mutation carriers were assessed (<bold><xref rid="pone.0120020.s002" ref-type="supplementary-material">S1 Table</xref></bold>). No associations were observed for <italic>TPX2</italic> and <italic>TUBG1</italic>, but there was an indication of an association for a variant relatively close to <italic>AURKA</italic>; rs2426618 and breast cancer risk in <italic>BRCA2</italic> mutation carriers, per-allele HR = 1.10, 95% CI 1.03–1.16, p = 0.005 (FDR-adjusted p = 0.045; <bold><xref rid="pone.0120020.g003" ref-type="fig">Fig. 3A</xref></bold>). There was no evidence of association between this variant and breast cancer risk in <italic>BRCA1</italic> mutation carriers or between the same variant and ovarian cancer risk in either <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation carriers (p > 0.30). Consistent with the main analysis, the competing risk model showed an rs2426618 association with breast cancer risk only in <italic>BRCA2</italic> mutation carriers (p = 0.002).</p><fig id="pone.0120020.g003" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0120020.g003</object-id><label>Fig 3</label><caption><title>The <italic>AURKA/CSTF1</italic> locus and breast cancer risk in <italic>BRCA2</italic> mutation carriers.</title><p>(<bold>A</bold>) Forest plots showing rs2426618 HRs and 95% CIs (retrospective likelihood trend estimation) for participating countries (relatively small sample sets are not shown) ordered by sample size. Left and right panels show results for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers, respectively. The sizes of the rectangles are proportional to the corresponding study precision. (<bold>B</bold>) The rs2426618-containing region, including the genes, variation and regulatory evidence in HMECs. Exons are marked by black-filled rectangles and the direction of transcription is marked by arrows in the genomic structure. The chromosome 20 positions (bp) and linkage disequilibrium structure from Caucasian HapMap individuals are also shown.</p></caption><graphic xlink:href="pone.0120020.g003"></graphic></fig><p>The rs2426618 variant is located in intron 5 of a neighboring (distal) gene, <italic>CSTF1</italic> (<bold><xref rid="pone.0120020.g003" ref-type="fig">Fig. 3B</xref></bold>). Analogous to the <italic>HMMR</italic> setting, rs2426618 is relatively close (∼30 kb) to the promoter region of <italic>AURKA</italic>/<italic>CSTF1</italic>, which is active in mammary epithelial cells and differentially ERα-regulated in poor-prognosis breast tumors (<bold><xref rid="pone.0120020.g003" ref-type="fig">Fig. 3B</xref></bold>). Association analysis with imputed SNPs within ∼50 kb centered on rs2426618 (fully including <italic>AURKA</italic> and <italic>CSTF1</italic>) did not reveal stronger evidence than that of rs2426618: a variant located in <italic>AURKA</italic> intron 8 (rs187966577, <bold><xref rid="pone.0120020.g003" ref-type="fig">Fig. 3B</xref></bold>) was found to be similarly associated (p = 0.002). However, this variant was rare (MAF = 0.009) and poorly imputed (r<sup>2</sup> = 0.37). Finally, the analysis of rs2426618 by ERα tumor status in <italic>BRCA2</italic> mutation carriers did not reveal specific associations: ERα-positive, per-allele HR = 1.10, 95% CI 1.02–1.17, p = 0.010; ERα-negative, per-allele HR = 1.11,95% CI 0.97–1.26, p = 0.15, p<sub>difference</sub> = 0.89.</p></sec><sec id="sec015"><title>Potential genetic interactions in the <italic>AURKA-HMMR-TPX2-TUBG1</italic> module</title><p>Given the above associations at <italic>HMMR</italic> and <italic>AURKA</italic>/<italic>CSTF1</italic>, the influence of GxG on breast cancer risk in <italic>BRCA1/2</italic> mutation carriers was assessed between rs299290 and the genotyped variants in <italic>AURKA/TPX2/TUBG1</italic> (n = 22), and between rs2426618 and the genotyped variants in <italic>TPX2/TUBG1</italic> (n = 7). No GxG was detected for rs2426618-<italic>TPX2/TUBG1</italic>, but potential interactions (unadjusted p<sub>interaction</sub> values < 0.05) between rs299290 and <italic>AURKA</italic>/<italic>CSTF1</italic> or <italic>TUBG1</italic> variants were suggested (<bold><xref rid="pone.0120020.t001" ref-type="table">Table 1</xref></bold>). An interaction between rs299290 and rs6064391 (in intron 2 of <italic>CSTF1</italic>, <bold><xref rid="pone.0120020.g003" ref-type="fig">Fig. 3B</xref></bold>) could reduce breast cancer risk in both <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers (interaction HRs = 0.87 and 0.73, respectively; <bold><xref rid="pone.0120020.t001" ref-type="table">Table 1</xref></bold>). In the main effect analysis, rs6064391 showed a suggestion of association with reduced breast cancer risk in <italic>BRCA2</italic> mutation carriers: HR = 0.87, unadjusted p = 0.036. Conversely, an interaction between rs299290 and rs11649877 (3’ region of <italic>TUBG1</italic>) could increase breast cancer risk in both <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers (HRs = 1.33 and 1.21, respectively; <bold><xref rid="pone.0120020.t001" ref-type="table">Table 1</xref></bold>). In the main effect analysis, there was no evidence of rs11649877 association with breast cancer risk in <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation carriers (p = 0.49). Genetic interactions frequently represent complex molecular relationships and, thus, can be explained by multiple models of phenotypic differences across genetic backgrounds [<xref rid="pone.0120020.ref041" ref-type="bibr">41</xref>], including those identified here. However, additional studies are required to corroborate the findings.</p><table-wrap id="pone.0120020.t001" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0120020.t001</object-id><label>Table 1</label><caption><title>Potential GxG associated with breast cancer risk in <italic>BRCA1/2</italic> mutation carriers.</title></caption><alternatives><graphic id="pone.0120020.t001g" xlink:href="pone.0120020.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></colgroup><thead><tr><th align="left" rowspan="1" colspan="1">Genotype(s) (gene locus)</th><th align="left" rowspan="1" colspan="1">HR<xref rid="t001fn001" ref-type="table-fn">*</xref></th><th align="left" rowspan="1" colspan="1">p<sub>interaction</sub></th></tr></thead><tbody><tr><td colspan="3" align="left" rowspan="1"><bold><italic>BRCA1</italic> mutation carriers</bold></td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G (<italic>HMMR</italic>)</td><td align="char" char="." rowspan="1" colspan="1">1.16</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs6064391-A/A (<italic>CSTF1</italic>)</td><td align="char" char="." rowspan="1" colspan="1">1.09</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G—rs6064391-A/A</td><td align="char" char="." rowspan="1" colspan="1">0.87</td><td align="char" char="." rowspan="1" colspan="1">0.047</td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G (<italic>HMMR</italic>)</td><td align="char" char="." rowspan="1" colspan="1">1.07</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs11649877-A/G (<italic>TUBG1</italic>)</td><td align="char" char="." rowspan="1" colspan="1">0.94</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G—rs11649877-A/G</td><td align="char" char="." rowspan="1" colspan="1">1.33</td><td align="char" char="." rowspan="1" colspan="1">0.014</td></tr><tr><td colspan="3" align="left" rowspan="1"><bold><italic>BRCA2</italic> mutation carriers</bold></td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-G/G (<italic>HMMR</italic>)</td><td align="char" char="." rowspan="1" colspan="1">1.32</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs6064391-A/C (<italic>CSTF1</italic>)</td><td align="char" char="." rowspan="1" colspan="1">0.97</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G—rs6064391-A/C</td><td align="char" char="." rowspan="1" colspan="1">0.73</td><td align="char" char="." rowspan="1" colspan="1">0.034</td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G (<italic>HMMR</italic>)</td><td align="char" char="." rowspan="1" colspan="1">0.95</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs11649877-A/A (<italic>TUBG1</italic>)</td><td align="char" char="." rowspan="1" colspan="1">0.87</td><td align="left" rowspan="1" colspan="1"></td></tr><tr><td align="left" rowspan="1" colspan="1">rs299290-A/G—rs11649877-A/A</td><td align="char" char="." rowspan="1" colspan="1">1.21</td><td align="char" char="." rowspan="1" colspan="1">0.041</td></tr></tbody></table></alternatives><table-wrap-foot><fn id="t001fn001"><p>*Each estimate is derived from the interaction term of a Cox regression model.</p></fn></table-wrap-foot></table-wrap><p>Integrative studies in model organisms have shown that experimentally identified GxG overlap with other types of gene and/or protein interactions (<italic>e</italic>.<italic>g</italic>., gene co-expression) to a degree that is significantly higher than expected by chance [<xref rid="pone.0120020.ref008" ref-type="bibr">8</xref>]. Thus, we assessed the GxGs suggested above for their equivalence with interactions between gene expression profiles across breast tumors, considering breast cancer survival as the outcome. There are no large tumor series from <italic>BRCA1/2</italic> mutation carriers that allow gene expression interactions in these mutation backgrounds to be assessed; therefore our analysis was restricted to sporadic cases and aimed to explore complex relationships between <italic>HMMR</italic> and <italic>AURKA</italic> or <italic>TUBG1</italic>. Using the NKI-295 dataset [<xref rid="pone.0120020.ref022" ref-type="bibr">22</xref>], <italic>HMMR</italic> expression was found to be significantly associated with overall survival: two microarray probes gave identical results: HR = 1.78 and p = 0.001. <italic>AURKA</italic> expression was also found to be associated with overall survival (single probe HR = 2.07, p = 3.3 x 10<sup>−9</sup>) but, notably, the combined model with <italic>HMMR</italic> indicated a protective interaction: the HRs for both <italic>HMMR</italic> and <italic>AURKA</italic> probe combinations were 0.57 and 0.55, p<sub>interaction</sub> values = 0.026, respectively (<bold><xref rid="pone.0120020.g004" ref-type="fig">Fig. 4A</xref></bold>). The combined <italic>HMMR</italic> and <italic>TUBG1</italic> expressions also suggested an interaction, but in this case “aggravating”: the HRs for both <italic>HMMR</italic> probe combinations with a <italic>TUBG1</italic> probe were 1.84 and 2.16, p<sub>interaction</sub> = 0.041 and 0.009, respectively (<bold><xref rid="pone.0120020.g004" ref-type="fig">Fig. 4B</xref></bold>). The expression of <italic>TUBG1</italic> alone was not found to be associated with overall survival (p = 0.12). Together, these results could indicate a functional correspondence for interactions influencing both breast cancer development and progression. However, the precise effects of the corresponding risk alleles remain to be elucidated.</p><fig id="pone.0120020.g004" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pone.0120020.g004</object-id><label>Fig 4</label><caption><title>Gene expression interactions in breast cancer survival.</title><p>(<bold>A</bold>) Kaplan–Meier survival curves based on categorization of <italic>HMMR</italic> (probe NM_012484) and <italic>AURKA</italic> (NM_003600) expression in tertiles (low, medium or high expression). For simplicity, only the tertiles for “high” <italic>AURKA</italic> are shown. The tumours with high expression levels for both genes were not those with the poorest prognosis. (<bold>B</bold>) Kaplan–Meier survival curves based on categorization of <italic>HMMR</italic> (NM_012484) and <italic>TUBG1</italic> (NM_016437) expression in tertiles (low, medium or high expression). For simplicity, only the tertiles for “high” <italic>HMMR</italic> are shown. The cases with high expression levels for both genes were those with the poorest prognosis.</p></caption><graphic xlink:href="pone.0120020.g004"></graphic></fig></sec></sec><sec sec-type="conclusions" id="sec016"><title>Discussion</title><p>The results of this study expand on the previous suggestion that variation in <italic>HMMR</italic> is specifically associated with breast cancer risk in <italic>BRCA1</italic> mutation carriers [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>]. By analyzing a much larger number of carriers—genotyped using the high-quality iCOGS approach [<xref rid="pone.0120020.ref011" ref-type="bibr">11</xref>,<xref rid="pone.0120020.ref012" ref-type="bibr">12</xref>]—we were able to confirm the association of this locus, and to demonstrate that the strongest signal corresponded to rs299290. No specific effect was revealed when analyzing this association by ERα tumor status. Larger carrier series may be required to comprehensively evaluate associations by tumor subtype or, conversely, to establish that variation in <italic>HMMR</italic> interacts with Class I <italic>BRCA1</italic> mutations to give rise to any type of tumor. In this context, mapping of the protein and/or functional domains interacting between BRCA1 and RHAMM would be necessary to decipher the role of rs299290, if any, and of the observed potential positive selection. With regard to the results obtained for <italic>BRCA2</italic> mutation carriers, the opposite direction of the potential association with ERα-negative breast cancer compared with the association observed for <italic>BRCA1</italic> mutation carriers is intriguing. Opposite effects between cancer subtypes have been observed for other modifier loci [<xref rid="pone.0120020.ref016" ref-type="bibr">16</xref>] and, thus, potentially inform on opposing functional roles in biological processes influencing carcinogenesis. In other words, alteration of RHAMM function in mammary epithelial differentiation may have a differential effect on breast cancer risk depending on whether it occurs in a <italic>BRCA1-</italic> or <italic>BRCA2</italic>-mutated background.</p><p>The study of gene loci functionally related to <italic>HMMR</italic> suggests an association between variation in <italic>AURKA</italic>/<italic>CSTF1</italic> and risk of breast cancer among <italic>BRCA2</italic> mutation carriers. While there were initial conflicting results for <italic>AURKA</italic> associations with breast cancer risk [<xref rid="pone.0120020.ref005" ref-type="bibr">5</xref>,<xref rid="pone.0120020.ref042" ref-type="bibr">42</xref>], it is interesting to note that a population case-control study [<xref rid="pone.0120020.ref043" ref-type="bibr">43</xref>] identified variants in the <italic>AURKA</italic> promoter region associated with breast cancer risk in the same direction as detected in our analysis. The minor allele of rs6064389 was shown to be protective in the general population [<xref rid="pone.0120020.ref043" ref-type="bibr">43</xref>], and a similar association was observed in the analysis of <italic>BRCA2</italic> mutation carriers: HR = 0.93, p = 0.021; not significant in <italic>BRCA1</italic> mutation carriers, p = 0.25. This variant is partially correlated with rs2426618 (r<sup>2</sup> = 0.63), and more strongly correlated with rs6064391 (r<sup>2</sup> = 0.86), which might interact with rs299290.</p><p>In addition to the main effects, interaction between <italic>HMMR</italic> and <italic>AURKA</italic>, and between <italic>HMMR</italic> and <italic>TUBG1</italic> could influence breast cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. The interactions did not remain statistically significant after corrections for multiple testing and, therefore, additional studies are warranted to investigate these findings further. Combined expression of <italic>HMMR</italic> and <italic>AURKA</italic>, and <italic>HMMR</italic> and <italic>TUBG1</italic> in sporadic breast tumors appeared to influence patients’ survival differentially. These results could be analogous to those observed for breast cancer risk, but it remains unknown how the corresponding risk alleles may alter gene expression and/or protein function. In this context, over-expression of <italic>HMMR</italic>, <italic>AURKA</italic> or <italic>TUBG1</italic> impairs mammary epithelial polarization [<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>] and the rs299290 risk allele could be associated with relatively higher levels of <italic>HMMR</italic> expression [<xref rid="pone.0120020.ref001" ref-type="bibr">1</xref>,<xref rid="pone.0120020.ref004" ref-type="bibr">4</xref>], which would be consistent with the observed interactions. However, other studies on the potential regulatory impact of this variant and/or the link to selective constraints are needed. It is also important to note that the altered gene products may not be those included in the depicted functional module, but rather other products from the corresponding chromosomal regions.</p><p>In summary, centered on the <italic>AURKA-HMMR-TPX2-TUBG1</italic> functional module that regulates mammary epithelial polarization, this study confirms previous association results for <italic>HMMR</italic> rs299290 and suggests novel associations (for <italic>AURKA</italic>/<italic>CSTF1</italic> and <italic>HMMR</italic>-rs299290 interactions) with breast cancer risk in <italic>BRCA1</italic> and/or <italic>BRCA2</italic> mutation carriers.</p></sec><sec sec-type="supplementary-material" id="sec017"><title>Supporting Information</title><supplementary-material content-type="local-data" id="pone.0120020.s001"><label>S1 Fig</label><caption><title>Results of the quantification of the expression of <italic>HMMR</italic> exons 4 and 11 according to the rs299290 major and minor genotypes.</title><p>(TIF)</p></caption><media xlink:href="pone.0120020.s001.tif"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0120020.s002"><label>S1 Table</label><caption><title>Genotyped variants and breast cancer association results in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers.</title><p>(XLSX)</p></caption><media xlink:href="pone.0120020.s002.xlsx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0120020.s003"><label>S2 Table</label><caption><title>Species and genes used in functional constraints analyses.</title><p>(XLSX)</p></caption><media xlink:href="pone.0120020.s003.xlsx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0120020.s004"><label>S3 Table</label><caption><title>Variation in <italic>HMMR</italic> and haplotype association study for risk of breast cancer in <italic>BRCA1</italic> mutation carriers.</title><p>(PDF)</p></caption><media xlink:href="pone.0120020.s004.pdf"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0120020.s005"><label>S4 Table</label><caption><title>Evolutionary selection tests and results.</title><p>(XLS)</p></caption><media xlink:href="pone.0120020.s005.xls"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pone.0120020.s006"><label>S5 Table</label><caption><title>Details of acknowledgments and funding support.</title><p>(XLSX)</p></caption><media xlink:href="pone.0120020.s006.xlsx"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material></sec></body><back><ack><p>This work is dedicated to the memory of Olga M. Sinilnikova, who inspired the CIMBA group and led studies on BRCA1 modifiers. We wish to thank all study participants and clinicians for their valuable contributions to the iCOGS study. We also wish to thank the individual contributors from the following groups: BCFR, EMBRACE, GEMO, HEBON, kConFab, and SWE-BRCA (listed in <bold><xref rid="pone.0120020.s006" ref-type="supplementary-material">S5 Table</xref></bold>). 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