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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="aff1"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><addr-line>Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name><affiliation><nlm:aff id="aff3"><addr-line>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vaclova, Tereza" sort="Vaclova, Tereza" uniqKey="Vaclova T" first="Tereza" last="Vaclová">Tereza Vaclová</name><affiliation><nlm:aff id="aff1"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pita, Guillermo" sort="Pita, Guillermo" uniqKey="Pita G" first="Guillermo" last="Pita">Guillermo Pita</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Alonso, Rosario" sort="Alonso, Rosario" uniqKey="Alonso R" first="Rosario" last="Alonso">Rosario Alonso</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</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="aff6"><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><nlm:aff id="aff7"><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</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="aff8"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Duran, Mercedes" sort="Duran, Mercedes" uniqKey="Duran M" first="Mercedes" last="Duran">Mercedes Duran</name><affiliation><nlm:aff id="aff9"><addr-line>Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain</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="aff10"><addr-line>Oncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Institut de Recerca (VHIR), and Universitat Autonoma de Barcelona, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ram N Y Cajal, Teresa" sort="Ram N Y Cajal, Teresa" uniqKey="Ram N Y Cajal T" first="Teresa" last="Ram N Y Cajal">Teresa Ram N Y Cajal</name><affiliation><nlm:aff id="aff11"><addr-line>Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain</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="aff12"><addr-line>Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Martinez Bouzas, Cristina" sort="Martinez Bouzas, Cristina" uniqKey="Martinez Bouzas C" first="Cristina" last="Martínez-Bouzas">Cristina Martínez-Bouzas</name><affiliation><nlm:aff id="aff13"><addr-line>Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Andres Conejero, Raquel" sort="Andres Conejero, Raquel" uniqKey="Andres Conejero R" first="Raquel" last="Andrés Conejero">Raquel Andrés Conejero</name><affiliation><nlm:aff id="aff14"><addr-line>Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain</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="aff15"><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lee, Andrew" sort="Lee, Andrew" uniqKey="Lee A" first="Andrew" last="Lee">Andrew Lee</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Arver, Brita" sort="Arver, Brita" uniqKey="Arver B" first="Brita" last="Arver">Brita Arver</name><affiliation><nlm:aff id="aff17"><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="aff18"><addr-line>Department of Clinical Genetics, Karolinska University Hospital, Stockholm, 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="aff19"><addr-line>Department of Oncology, Lund University Hospital, Lund, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff id="aff20"><addr-line>Department of Clinical Genetics, Lund University Hospital, Lund, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I." last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:aff id="aff21"><addr-line>Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Beattie, Mary S" sort="Beattie, Mary S" uniqKey="Beattie M" first="Mary S." last="Beattie">Mary S. Beattie</name><affiliation><nlm:aff id="aff22"><addr-line>Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America</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="aff23"><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" sort="Nathanson, Katherine" uniqKey="Nathanson K" first="Katherine" last="Nathanson">Katherine Nathanson</name><affiliation><nlm:aff id="aff23"><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="aff24"><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="Arun, Banu K" sort="Arun, Banu K" uniqKey="Arun B" first="Banu K." last="Arun">Banu K. Arun</name><affiliation><nlm:aff id="aff25"><addr-line>University of Texas MD Anderson Cancer Center, Houston, Texas, 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="aff26"><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="aff26"><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="aff26"><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="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="aff27"><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="Whittemore, Alice S" sort="Whittemore, Alice S" uniqKey="Whittemore A" first="Alice S." last="Whittemore">Alice S. Whittemore</name><affiliation><nlm:aff id="aff28"><addr-line>Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, 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="aff29"><addr-line>Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name><affiliation><nlm:aff id="aff30"><addr-line>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hopper, John" sort="Hopper, John" uniqKey="Hopper J" first="John" last="Hopper">John Hopper</name><affiliation><nlm:aff id="aff31"><addr-line>Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name><affiliation><nlm:aff id="aff32"><addr-line>Department of Epidemiology, Columbia University, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="aff33"><addr-line>Department of Oncological Sciences, Huntsman Cancer Institute, 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="aff34"><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative 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="aff35"><addr-line>Department of Genetics, University of Pretoria, Pretoria, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elizabeth J" sort="Van Rensburg, Elizabeth J" uniqKey="Van Rensburg E" first="Elizabeth J." last="Van Rensburg">Elizabeth J. Van Rensburg</name><affiliation><nlm:aff id="aff35"><addr-line>Department of Genetics, University of Pretoria, Pretoria, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Steele, Linda" sort="Steele, Linda" uniqKey="Steele L" first="Linda" last="Steele">Linda Steele</name><affiliation><nlm:aff id="aff36"><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="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name><affiliation><nlm:aff id="aff36"><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="Ding, Yuan Chun" sort="Ding, Yuan Chun" uniqKey="Ding Y" first="Yuan Chun" last="Ding">Yuan Chun Ding</name><affiliation><nlm:aff id="aff36"><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="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name><affiliation><nlm:aff id="aff37"><addr-line>Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, 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="aff37"><addr-line>Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, 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="aff38"><addr-line>Department of Oncology, Rigshospitalet, University of Copenhagen, 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="aff39"><addr-line>Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Infante, Mar" sort="Infante, Mar" uniqKey="Infante M" first="Mar" last="Infante">Mar Infante</name><affiliation><nlm:aff id="aff9"><addr-line>Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Herraez, Belen" sort="Herraez, Belen" uniqKey="Herraez B" first="Belén" last="Herráez">Belén Herráez</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Moreno, Leticia Thais" sort="Moreno, Leticia Thais" uniqKey="Moreno L" first="Leticia Thais" last="Moreno">Leticia Thais Moreno</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</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="aff40"><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="aff40"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Weeman, Kisa" sort="Weeman, Kisa" uniqKey="Weeman K" first="Kisa" last="Weeman">Kisa Weeman</name><affiliation><nlm:aff id="aff40"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), 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="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zaffaroni, Daniela" sort="Zaffaroni, Daniela" uniqKey="Zaffaroni D" first="Daniela" last="Zaffaroni">Daniela Zaffaroni</name><affiliation><nlm:aff id="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS 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="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="aff42"><addr-line>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mariette, Frederique" sort="Mariette, Frederique" uniqKey="Mariette F" first="Frederique" last="Mariette">Frederique Mariette</name><affiliation><nlm:aff id="aff43"><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="aff43"><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Viel, Alessandra" sort="Viel, Alessandra" uniqKey="Viel A" first="Alessandra" last="Viel">Alessandra Viel</name><affiliation><nlm:aff id="aff44"><addr-line>Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="aff45"><addr-line>Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="aff46"><addr-line>Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, 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="aff47"><addr-line>Department of Molecular Medicine, “Sapienza” University, Rome, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="aff48"><addr-line>UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, 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="aff49"><addr-line>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Yannoukakos, Drakoulis" sort="Yannoukakos, Drakoulis" uniqKey="Yannoukakos D" first="Drakoulis" last="Yannoukakos">Drakoulis Yannoukakos</name><affiliation><nlm:aff id="aff12"><addr-line>Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, 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="aff50"><addr-line>Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Platte, Radka" sort="Platte, Radka" uniqKey="Platte R" first="Radka" last="Platte">Radka Platte</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fineberg, Elena" sort="Fineberg, Elena" uniqKey="Fineberg E" first="Elena" last="Fineberg">Elena Fineberg</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Evans, Gareth" sort="Evans, Gareth" uniqKey="Evans G" first="Gareth" last="Evans">Gareth Evans</name><affiliation><nlm:aff id="aff51"><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, 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="aff51"><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name><affiliation><nlm:aff id="aff52"><addr-line>South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name><affiliation><nlm:aff id="aff53"><addr-line>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Adlard, Julian" sort="Adlard, Julian" uniqKey="Adlard J" first="Julian" last="Adlard">Julian Adlard</name><affiliation><nlm:aff id="aff54"><addr-line>Yorkshire Regional Genetics Service, Leeds, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name><affiliation><nlm:aff id="aff55"><addr-line>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cole, Trevor" sort="Cole, Trevor" uniqKey="Cole T" first="Trevor" last="Cole">Trevor Cole</name><affiliation><nlm:aff id="aff56"><addr-line>West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="aff57"><addr-line>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Jackie" sort="Cook, Jackie" uniqKey="Cook J" first="Jackie" last="Cook">Jackie Cook</name><affiliation><nlm:aff id="aff58"><addr-line>Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><nlm:aff id="aff59"><addr-line>Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name><affiliation><nlm:aff id="aff60"><addr-line>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation><nlm:aff id="aff61"><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="Douglas, Fiona" sort="Douglas, Fiona" uniqKey="Douglas F" first="Fiona" last="Douglas">Fiona Douglas</name><affiliation><nlm:aff id="aff62"><addr-line>Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Porteous, Mary" sort="Porteous, Mary" uniqKey="Porteous M" first="Mary" last="Porteous">Mary Porteous</name><affiliation><nlm:aff id="aff63"><addr-line>South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Side, Lucy" sort="Side, Lucy" uniqKey="Side L" first="Lucy" last="Side">Lucy Side</name><affiliation><nlm:aff id="aff64"><addr-line>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Walker, Lisa" sort="Walker, Lisa" uniqKey="Walker L" first="Lisa" last="Walker">Lisa Walker</name><affiliation><nlm:aff id="aff65"><addr-line>Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Morrison, Patrick" sort="Morrison, Patrick" uniqKey="Morrison P" first="Patrick" last="Morrison">Patrick Morrison</name><affiliation><nlm:aff id="aff66"><addr-line>Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Donaldson, Alan" sort="Donaldson, Alan" uniqKey="Donaldson A" first="Alan" last="Donaldson">Alan Donaldson</name><affiliation><nlm:aff id="aff67"><addr-line>South West Regional Genetics Service, Bristol, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kennedy, John" sort="Kennedy, John" uniqKey="Kennedy J" first="John" last="Kennedy">John Kennedy</name><affiliation><nlm:aff id="aff68"><addr-line>Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire</addr-line></nlm:aff></affiliation></author><author><name sortKey="Foo, Claire" sort="Foo, Claire" uniqKey="Foo C" first="Claire" last="Foo">Claire Foo</name><affiliation><nlm:aff id="aff69"><addr-line>Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</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="aff70"><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="Schmutzler, Rita Katharina" sort="Schmutzler, Rita Katharina" uniqKey="Schmutzler R" first="Rita Katharina" last="Schmutzler">Rita Katharina Schmutzler</name><affiliation><nlm:aff id="aff71"><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="aff71"><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="aff71"><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="aff72"><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="aff73"><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ditsch, Nina" sort="Ditsch, Nina" uniqKey="Ditsch N" first="Nina" last="Ditsch">Nina Ditsch</name><affiliation><nlm:aff id="aff73"><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="aff74"><addr-line>Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Plendl, Hans Jorg" sort="Plendl, Hans Jorg" uniqKey="Plendl H" first="Hans Jörg" last="Plendl">Hans Jörg Plendl</name><affiliation><nlm:aff id="aff75"><addr-line>Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, 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="aff76"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="aff77"><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="aff78"><addr-line>Department of Gynaecology 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="aff79"><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="aff80"><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="aff81"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Varon Mateeva, Raymonda" sort="Varon Mateeva, Raymonda" uniqKey="Varon Mateeva R" first="Raymonda" last="Varon-Mateeva">Raymonda Varon-Mateeva</name><affiliation><nlm:aff id="aff82"><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="aff83"><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="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="aff84"><addr-line>Institut Curie, Department of Tumour Biology, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff85"><addr-line>Institut Curie, INSERM U830, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff86"><addr-line>Université Paris Descartes, Sorbonne Paris Cité, Paris, 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="aff87"><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="aff88"><addr-line>INSERM U1052, 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="aff88"><addr-line>INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, 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="aff88"><addr-line>INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation><nlm:aff id="aff89"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</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="aff89"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</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="aff90"><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="Tucker, Kathy" sort="Tucker, Kathy" uniqKey="Tucker K" first="Kathy" last="Tucker">Kathy Tucker</name><affiliation><nlm:aff id="aff91"><addr-line>Prince of Wales Hospital. Sydney, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Backes, Floor" sort="Backes, Floor" uniqKey="Backes F" first="Floor" last="Backes">Floor Backes</name><affiliation><nlm:aff id="aff92"><addr-line>Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Gustavo" sort="Rodriguez, Gustavo" uniqKey="Rodriguez G" first="Gustavo" last="Rodríguez">Gustavo Rodríguez</name><affiliation><nlm:aff id="aff93"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brewster, Wendy" sort="Brewster, Wendy" uniqKey="Brewster W" first="Wendy" last="Brewster">Wendy Brewster</name><affiliation><nlm:aff id="aff94"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wakeley, Katie" sort="Wakeley, Katie" uniqKey="Wakeley K" first="Katie" last="Wakeley">Katie Wakeley</name><affiliation><nlm:aff id="aff95"><addr-line>For Tufts Medical Center, Boston, Massachusetts, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rutherford, Thomas" sort="Rutherford, Thomas" uniqKey="Rutherford T" first="Thomas" last="Rutherford">Thomas Rutherford</name><affiliation><nlm:aff id="aff96"><addr-line>Yale University School of Medicine, New Haven, Connecticut, United States of America</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="aff8"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, 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="aff97"><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="aff97"><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="Rookus, Matti A" sort="Rookus, Matti A" uniqKey="Rookus M" first="Matti A." last="Rookus">Matti A. Rookus</name><affiliation><nlm:aff id="aff98"><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Os, Theo A M" sort="Van Os, Theo A M" uniqKey="Van Os T" first="Theo A. M." last="Van Os">Theo A. M. Van Os</name><affiliation><nlm:aff id="aff99"><addr-line>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Kolk, Lizet" sort="Van Der Kolk, Lizet" uniqKey="Van Der Kolk L" first="Lizet" last="Van Der Kolk">Lizet Van Der Kolk</name><affiliation><nlm:aff id="aff100"><addr-line>Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="De Lange, J L" sort="De Lange, J L" uniqKey="De Lange J" first="J. L." last="De Lange">J. L. De Lange</name><affiliation><nlm:aff id="aff101"><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="aff102"><addr-line>Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Hout, A H" sort="Van Der Hout, A H" uniqKey="Van Der Hout A" first="A. H." last="Van Der Hout">A. H. Van Der Hout</name><affiliation><nlm:aff id="aff103"><addr-line>University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name><affiliation><nlm:aff id="aff104"><addr-line>Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="G Mez Garcia, Encarna B" sort="G Mez Garcia, Encarna B" uniqKey="G Mez Garcia E" first="Encarna B." last="G Mez Garcia">Encarna B. G Mez Garcia</name><affiliation><nlm:aff id="aff105"><addr-line>Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hoogerbrugge, Nicoline" sort="Hoogerbrugge, Nicoline" uniqKey="Hoogerbrugge N" first="Nicoline" last="Hoogerbrugge">Nicoline Hoogerbrugge</name><affiliation><nlm:aff id="aff106"><addr-line>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Collee, J Margriet" sort="Collee, J Margriet" uniqKey="Collee J" first="J. Margriet" last="Collée">J. Margriet Collée</name><affiliation><nlm:aff id="aff107"><addr-line>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Deurzen, Carolien H M" sort="Van Deurzen, Carolien H M" uniqKey="Van Deurzen C" first="Carolien H. M." last="Van Deurzen">Carolien H. M. Van Deurzen</name><affiliation><nlm:aff id="aff108"><addr-line>Department of Pathology, 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="aff109"><addr-line>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, 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="aff110"><addr-line>Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</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="aff112"><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</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="aff113"><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Teule, Alex" sort="Teule, Alex" uniqKey="Teule A" first="Alex" last="Teulé">Alex Teulé</name><affiliation><nlm:aff id="aff7"><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menéndez">Mireia Menéndez</name><affiliation><nlm:aff id="aff113"><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</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="aff114"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cybulski, Cezary" sort="Cybulski, Cezary" uniqKey="Cybulski C" first="Cezary" last="Cybulski">Cezary Cybulski</name><affiliation><nlm:aff id="aff114"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gronwald, Jacek" sort="Gronwald, Jacek" uniqKey="Gronwald J" first="Jacek" last="Gronwald">Jacek Gronwald</name><affiliation><nlm:aff id="aff114"><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="aff114"><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="aff114"><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="aff114"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff115"><addr-line>Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Johannsson, Oskar Th" sort="Johannsson, Oskar Th" uniqKey="Johannsson O" first="Oskar Th." last="Johannsson">Oskar Th. Johannsson</name><affiliation><nlm:aff id="aff116"><addr-line>Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland</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="aff117"><addr-line>Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France</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="aff118"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tognazzo, Silvia" sort="Tognazzo, Silvia" uniqKey="Tognazzo S" first="Silvia" last="Tognazzo">Silvia Tognazzo</name><affiliation><nlm:aff id="aff118"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy</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="aff119"><addr-line>Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal</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="aff120"><addr-line>Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name><affiliation><nlm:aff id="aff121"><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name><affiliation><nlm:aff id="aff122"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Guidugli, Lucia" sort="Guidugli, Lucia" uniqKey="Guidugli L" first="Lucia" last="Guidugli">Lucia Guidugli</name><affiliation><nlm:aff id="aff123"><addr-line>Department of Laboratory Medicine and Pathology, 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="aff124"><addr-line>Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name><affiliation><nlm:aff id="aff125"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="aff126"><addr-line>Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff128"><addr-line>Cancer Biology and Genetics Program, 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="aff127"><addr-line>Clinical Genetics Service, 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="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zhang, Liying" sort="Zhang, Liying" uniqKey="Zhang L" first="Liying" last="Zhang">Liying Zhang</name><affiliation><nlm:aff id="aff129"><addr-line>Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rau Murthy, Rohini" sort="Rau Murthy, Rohini" uniqKey="Rau Murthy R" first="Rohini" last="Rau-Murthy">Rohini Rau-Murthy</name><affiliation><nlm:aff id="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff130"><addr-line>Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Phelan, Catherine M" sort="Phelan, Catherine M" uniqKey="Phelan C" first="Catherine M." last="Phelan">Catherine M. Phelan</name><affiliation><nlm:aff id="aff131"><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, 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="aff132"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, 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="aff132"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lejbkowicz, Flavio" sort="Lejbkowicz, Flavio" uniqKey="Lejbkowicz F" first="Flavio" last="Lejbkowicz">Flavio Lejbkowicz</name><affiliation><nlm:aff id="aff133"><addr-line>Clalit National Israeli Cancer Control Center, Haifa, Israel</addr-line></nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene" sort="Andrulis, Irene" uniqKey="Andrulis I" first="Irene" last="Andrulis">Irene Andrulis</name><affiliation><nlm:aff id="aff134"><addr-line>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="aff135"><addr-line>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name><affiliation><nlm:aff id="aff136"><addr-line>Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation><nlm:aff id="aff137"><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="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="aff138"><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="aff139"><addr-line>Section of Molecular Diagnostics, Department of Clinical 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="aff140"><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="aff141"><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="aff141"><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, 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="aff140"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</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="aff142"><addr-line>Sheba Medical Center, Tel Aviv, 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="aff142"><addr-line>Sheba Medical Center, Tel Aviv, Israel</addr-line></nlm:aff></affiliation></author><author><name sortKey="Shimon, Shani Paluch" sort="Shimon, Shani Paluch" uniqKey="Shimon S" first="Shani Paluch" last="Shimon">Shani Paluch Shimon</name><affiliation><nlm:aff id="aff142"><addr-line>Sheba Medical Center, Tel Aviv, Israel</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="aff143"><addr-line>Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff128"><addr-line>Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="aff122"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff123"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, 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="aff120"><addr-line>Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="aff1"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><addr-line>Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24698998</idno><idno type="pmc">3974638</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638</idno><idno type="RBID">PMC:3974638</idno><idno type="doi">10.1371/journal.pgen.1004256</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000584</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000584</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</title><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="aff1"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><addr-line>Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name><affiliation><nlm:aff id="aff3"><addr-line>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vaclova, Tereza" sort="Vaclova, Tereza" uniqKey="Vaclova T" first="Tereza" last="Vaclová">Tereza Vaclová</name><affiliation><nlm:aff id="aff1"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pita, Guillermo" sort="Pita, Guillermo" uniqKey="Pita G" first="Guillermo" last="Pita">Guillermo Pita</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Alonso, Rosario" sort="Alonso, Rosario" uniqKey="Alonso R" first="Rosario" last="Alonso">Rosario Alonso</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</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="aff6"><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><nlm:aff id="aff7"><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</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="aff8"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Duran, Mercedes" sort="Duran, Mercedes" uniqKey="Duran M" first="Mercedes" last="Duran">Mercedes Duran</name><affiliation><nlm:aff id="aff9"><addr-line>Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain</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="aff10"><addr-line>Oncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Institut de Recerca (VHIR), and Universitat Autonoma de Barcelona, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ram N Y Cajal, Teresa" sort="Ram N Y Cajal, Teresa" uniqKey="Ram N Y Cajal T" first="Teresa" last="Ram N Y Cajal">Teresa Ram N Y Cajal</name><affiliation><nlm:aff id="aff11"><addr-line>Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain</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="aff12"><addr-line>Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Martinez Bouzas, Cristina" sort="Martinez Bouzas, Cristina" uniqKey="Martinez Bouzas C" first="Cristina" last="Martínez-Bouzas">Cristina Martínez-Bouzas</name><affiliation><nlm:aff id="aff13"><addr-line>Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Andres Conejero, Raquel" sort="Andres Conejero, Raquel" uniqKey="Andres Conejero R" first="Raquel" last="Andrés Conejero">Raquel Andrés Conejero</name><affiliation><nlm:aff id="aff14"><addr-line>Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain</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="aff15"><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barrowdale, Daniel" sort="Barrowdale, Daniel" uniqKey="Barrowdale D" first="Daniel" last="Barrowdale">Daniel Barrowdale</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lee, Andrew" sort="Lee, Andrew" uniqKey="Lee A" first="Andrew" last="Lee">Andrew Lee</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Arver, Brita" sort="Arver, Brita" uniqKey="Arver B" first="Brita" last="Arver">Brita Arver</name><affiliation><nlm:aff id="aff17"><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="aff18"><addr-line>Department of Clinical Genetics, Karolinska University Hospital, Stockholm, 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="aff19"><addr-line>Department of Oncology, Lund University Hospital, Lund, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff id="aff20"><addr-line>Department of Clinical Genetics, Lund University Hospital, Lund, Sweden</addr-line></nlm:aff></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I." last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:aff id="aff21"><addr-line>Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Beattie, Mary S" sort="Beattie, Mary S" uniqKey="Beattie M" first="Mary S." last="Beattie">Mary S. Beattie</name><affiliation><nlm:aff id="aff22"><addr-line>Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America</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="aff23"><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" sort="Nathanson, Katherine" uniqKey="Nathanson K" first="Katherine" last="Nathanson">Katherine Nathanson</name><affiliation><nlm:aff id="aff23"><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="aff24"><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="Arun, Banu K" sort="Arun, Banu K" uniqKey="Arun B" first="Banu K." last="Arun">Banu K. Arun</name><affiliation><nlm:aff id="aff25"><addr-line>University of Texas MD Anderson Cancer Center, Houston, Texas, 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="aff26"><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="aff26"><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="aff26"><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="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="aff27"><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="Whittemore, Alice S" sort="Whittemore, Alice S" uniqKey="Whittemore A" first="Alice S." last="Whittemore">Alice S. Whittemore</name><affiliation><nlm:aff id="aff28"><addr-line>Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, 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="aff29"><addr-line>Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name><affiliation><nlm:aff id="aff30"><addr-line>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hopper, John" sort="Hopper, John" uniqKey="Hopper J" first="John" last="Hopper">John Hopper</name><affiliation><nlm:aff id="aff31"><addr-line>Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name><affiliation><nlm:aff id="aff32"><addr-line>Department of Epidemiology, Columbia University, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="aff33"><addr-line>Department of Oncological Sciences, Huntsman Cancer Institute, 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="aff34"><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative 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="aff35"><addr-line>Department of Genetics, University of Pretoria, Pretoria, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Rensburg, Elizabeth J" sort="Van Rensburg, Elizabeth J" uniqKey="Van Rensburg E" first="Elizabeth J." last="Van Rensburg">Elizabeth J. Van Rensburg</name><affiliation><nlm:aff id="aff35"><addr-line>Department of Genetics, University of Pretoria, Pretoria, South Africa</addr-line></nlm:aff></affiliation></author><author><name sortKey="Steele, Linda" sort="Steele, Linda" uniqKey="Steele L" first="Linda" last="Steele">Linda Steele</name><affiliation><nlm:aff id="aff36"><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="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name><affiliation><nlm:aff id="aff36"><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="Ding, Yuan Chun" sort="Ding, Yuan Chun" uniqKey="Ding Y" first="Yuan Chun" last="Ding">Yuan Chun Ding</name><affiliation><nlm:aff id="aff36"><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="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name><affiliation><nlm:aff id="aff37"><addr-line>Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, 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="aff37"><addr-line>Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, 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="aff38"><addr-line>Department of Oncology, Rigshospitalet, University of Copenhagen, 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="aff39"><addr-line>Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</addr-line></nlm:aff></affiliation></author><author><name sortKey="Infante, Mar" sort="Infante, Mar" uniqKey="Infante M" first="Mar" last="Infante">Mar Infante</name><affiliation><nlm:aff id="aff9"><addr-line>Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Herraez, Belen" sort="Herraez, Belen" uniqKey="Herraez B" first="Belén" last="Herráez">Belén Herráez</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Moreno, Leticia Thais" sort="Moreno, Leticia Thais" uniqKey="Moreno L" first="Leticia Thais" last="Moreno">Leticia Thais Moreno</name><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</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="aff40"><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="aff40"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Weeman, Kisa" sort="Weeman, Kisa" uniqKey="Weeman K" first="Kisa" last="Weeman">Kisa Weeman</name><affiliation><nlm:aff id="aff40"><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), 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="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zaffaroni, Daniela" sort="Zaffaroni, Daniela" uniqKey="Zaffaroni D" first="Daniela" last="Zaffaroni">Daniela Zaffaroni</name><affiliation><nlm:aff id="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS 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="aff41"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="aff42"><addr-line>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mariette, Frederique" sort="Mariette, Frederique" uniqKey="Mariette F" first="Frederique" last="Mariette">Frederique Mariette</name><affiliation><nlm:aff id="aff43"><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="aff43"><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Viel, Alessandra" sort="Viel, Alessandra" uniqKey="Viel A" first="Alessandra" last="Viel">Alessandra Viel</name><affiliation><nlm:aff id="aff44"><addr-line>Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="aff45"><addr-line>Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="aff46"><addr-line>Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, 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="aff47"><addr-line>Department of Molecular Medicine, “Sapienza” University, Rome, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="aff48"><addr-line>UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, 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="aff49"><addr-line>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Yannoukakos, Drakoulis" sort="Yannoukakos, Drakoulis" uniqKey="Yannoukakos D" first="Drakoulis" last="Yannoukakos">Drakoulis Yannoukakos</name><affiliation><nlm:aff id="aff12"><addr-line>Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, 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="aff50"><addr-line>Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ellis, Steve" sort="Ellis, Steve" uniqKey="Ellis S" first="Steve" last="Ellis">Steve Ellis</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Platte, Radka" sort="Platte, Radka" uniqKey="Platte R" first="Radka" last="Platte">Radka Platte</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Fineberg, Elena" sort="Fineberg, Elena" uniqKey="Fineberg E" first="Elena" last="Fineberg">Elena Fineberg</name><affiliation><nlm:aff id="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Evans, Gareth" sort="Evans, Gareth" uniqKey="Evans G" first="Gareth" last="Evans">Gareth Evans</name><affiliation><nlm:aff id="aff51"><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, 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="aff51"><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name><affiliation><nlm:aff id="aff52"><addr-line>South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name><affiliation><nlm:aff id="aff53"><addr-line>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Adlard, Julian" sort="Adlard, Julian" uniqKey="Adlard J" first="Julian" last="Adlard">Julian Adlard</name><affiliation><nlm:aff id="aff54"><addr-line>Yorkshire Regional Genetics Service, Leeds, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name><affiliation><nlm:aff id="aff55"><addr-line>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cole, Trevor" sort="Cole, Trevor" uniqKey="Cole T" first="Trevor" last="Cole">Trevor Cole</name><affiliation><nlm:aff id="aff56"><addr-line>West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:aff id="aff57"><addr-line>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cook, Jackie" sort="Cook, Jackie" uniqKey="Cook J" first="Jackie" last="Cook">Jackie Cook</name><affiliation><nlm:aff id="aff58"><addr-line>Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hodgson, Shirley" sort="Hodgson, Shirley" uniqKey="Hodgson S" first="Shirley" last="Hodgson">Shirley Hodgson</name><affiliation><nlm:aff id="aff59"><addr-line>Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name><affiliation><nlm:aff id="aff60"><addr-line>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation><nlm:aff id="aff61"><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="Douglas, Fiona" sort="Douglas, Fiona" uniqKey="Douglas F" first="Fiona" last="Douglas">Fiona Douglas</name><affiliation><nlm:aff id="aff62"><addr-line>Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Porteous, Mary" sort="Porteous, Mary" uniqKey="Porteous M" first="Mary" last="Porteous">Mary Porteous</name><affiliation><nlm:aff id="aff63"><addr-line>South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Side, Lucy" sort="Side, Lucy" uniqKey="Side L" first="Lucy" last="Side">Lucy Side</name><affiliation><nlm:aff id="aff64"><addr-line>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Walker, Lisa" sort="Walker, Lisa" uniqKey="Walker L" first="Lisa" last="Walker">Lisa Walker</name><affiliation><nlm:aff id="aff65"><addr-line>Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Morrison, Patrick" sort="Morrison, Patrick" uniqKey="Morrison P" first="Patrick" last="Morrison">Patrick Morrison</name><affiliation><nlm:aff id="aff66"><addr-line>Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Donaldson, Alan" sort="Donaldson, Alan" uniqKey="Donaldson A" first="Alan" last="Donaldson">Alan Donaldson</name><affiliation><nlm:aff id="aff67"><addr-line>South West Regional Genetics Service, Bristol, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kennedy, John" sort="Kennedy, John" uniqKey="Kennedy J" first="John" last="Kennedy">John Kennedy</name><affiliation><nlm:aff id="aff68"><addr-line>Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire</addr-line></nlm:aff></affiliation></author><author><name sortKey="Foo, Claire" sort="Foo, Claire" uniqKey="Foo C" first="Claire" last="Foo">Claire Foo</name><affiliation><nlm:aff id="aff69"><addr-line>Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</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="aff70"><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="Schmutzler, Rita Katharina" sort="Schmutzler, Rita Katharina" uniqKey="Schmutzler R" first="Rita Katharina" last="Schmutzler">Rita Katharina Schmutzler</name><affiliation><nlm:aff id="aff71"><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="aff71"><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="aff71"><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="aff72"><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="aff73"><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ditsch, Nina" sort="Ditsch, Nina" uniqKey="Ditsch N" first="Nina" last="Ditsch">Nina Ditsch</name><affiliation><nlm:aff id="aff73"><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><affiliation><nlm:aff id="aff74"><addr-line>Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Plendl, Hans Jorg" sort="Plendl, Hans Jorg" uniqKey="Plendl H" first="Hans Jörg" last="Plendl">Hans Jörg Plendl</name><affiliation><nlm:aff id="aff75"><addr-line>Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, 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="aff76"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="aff77"><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="aff78"><addr-line>Department of Gynaecology 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="aff79"><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="aff80"><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="aff81"><addr-line>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Varon Mateeva, Raymonda" sort="Varon Mateeva, Raymonda" uniqKey="Varon Mateeva R" first="Raymonda" last="Varon-Mateeva">Raymonda Varon-Mateeva</name><affiliation><nlm:aff id="aff82"><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="aff83"><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="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="aff84"><addr-line>Institut Curie, Department of Tumour Biology, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff85"><addr-line>Institut Curie, INSERM U830, Paris, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff86"><addr-line>Université Paris Descartes, Sorbonne Paris Cité, Paris, 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="aff87"><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="aff88"><addr-line>INSERM U1052, 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="aff88"><addr-line>INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, 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="aff88"><addr-line>INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation><nlm:aff id="aff89"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</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="aff89"><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</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="aff90"><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="Tucker, Kathy" sort="Tucker, Kathy" uniqKey="Tucker K" first="Kathy" last="Tucker">Kathy Tucker</name><affiliation><nlm:aff id="aff91"><addr-line>Prince of Wales Hospital. Sydney, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Backes, Floor" sort="Backes, Floor" uniqKey="Backes F" first="Floor" last="Backes">Floor Backes</name><affiliation><nlm:aff id="aff92"><addr-line>Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rodriguez, Gustavo" sort="Rodriguez, Gustavo" uniqKey="Rodriguez G" first="Gustavo" last="Rodríguez">Gustavo Rodríguez</name><affiliation><nlm:aff id="aff93"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brewster, Wendy" sort="Brewster, Wendy" uniqKey="Brewster W" first="Wendy" last="Brewster">Wendy Brewster</name><affiliation><nlm:aff id="aff94"><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wakeley, Katie" sort="Wakeley, Katie" uniqKey="Wakeley K" first="Katie" last="Wakeley">Katie Wakeley</name><affiliation><nlm:aff id="aff95"><addr-line>For Tufts Medical Center, Boston, Massachusetts, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rutherford, Thomas" sort="Rutherford, Thomas" uniqKey="Rutherford T" first="Thomas" last="Rutherford">Thomas Rutherford</name><affiliation><nlm:aff id="aff96"><addr-line>Yale University School of Medicine, New Haven, Connecticut, United States of America</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="aff8"><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, 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="aff97"><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="aff97"><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="Rookus, Matti A" sort="Rookus, Matti A" uniqKey="Rookus M" first="Matti A." last="Rookus">Matti A. Rookus</name><affiliation><nlm:aff id="aff98"><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Os, Theo A M" sort="Van Os, Theo A M" uniqKey="Van Os T" first="Theo A. M." last="Van Os">Theo A. M. Van Os</name><affiliation><nlm:aff id="aff99"><addr-line>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Kolk, Lizet" sort="Van Der Kolk, Lizet" uniqKey="Van Der Kolk L" first="Lizet" last="Van Der Kolk">Lizet Van Der Kolk</name><affiliation><nlm:aff id="aff100"><addr-line>Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="De Lange, J L" sort="De Lange, J L" uniqKey="De Lange J" first="J. L." last="De Lange">J. L. De Lange</name><affiliation><nlm:aff id="aff101"><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="aff102"><addr-line>Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Der Hout, A H" sort="Van Der Hout, A H" uniqKey="Van Der Hout A" first="A. H." last="Van Der Hout">A. H. Van Der Hout</name><affiliation><nlm:aff id="aff103"><addr-line>University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name><affiliation><nlm:aff id="aff104"><addr-line>Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="G Mez Garcia, Encarna B" sort="G Mez Garcia, Encarna B" uniqKey="G Mez Garcia E" first="Encarna B." last="G Mez Garcia">Encarna B. G Mez Garcia</name><affiliation><nlm:aff id="aff105"><addr-line>Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hoogerbrugge, Nicoline" sort="Hoogerbrugge, Nicoline" uniqKey="Hoogerbrugge N" first="Nicoline" last="Hoogerbrugge">Nicoline Hoogerbrugge</name><affiliation><nlm:aff id="aff106"><addr-line>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Collee, J Margriet" sort="Collee, J Margriet" uniqKey="Collee J" first="J. Margriet" last="Collée">J. Margriet Collée</name><affiliation><nlm:aff id="aff107"><addr-line>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Deurzen, Carolien H M" sort="Van Deurzen, Carolien H M" uniqKey="Van Deurzen C" first="Carolien H. M." last="Van Deurzen">Carolien H. M. Van Deurzen</name><affiliation><nlm:aff id="aff108"><addr-line>Department of Pathology, 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="aff109"><addr-line>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, 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="aff110"><addr-line>Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</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="aff112"><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</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="aff113"><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Teule, Alex" sort="Teule, Alex" uniqKey="Teule A" first="Alex" last="Teulé">Alex Teulé</name><affiliation><nlm:aff id="aff7"><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menéndez">Mireia Menéndez</name><affiliation><nlm:aff id="aff113"><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</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="aff114"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Cybulski, Cezary" sort="Cybulski, Cezary" uniqKey="Cybulski C" first="Cezary" last="Cybulski">Cezary Cybulski</name><affiliation><nlm:aff id="aff114"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gronwald, Jacek" sort="Gronwald, Jacek" uniqKey="Gronwald J" first="Jacek" last="Gronwald">Jacek Gronwald</name><affiliation><nlm:aff id="aff114"><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="aff114"><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="aff114"><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="aff114"><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff115"><addr-line>Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Johannsson, Oskar Th" sort="Johannsson, Oskar Th" uniqKey="Johannsson O" first="Oskar Th." last="Johannsson">Oskar Th. Johannsson</name><affiliation><nlm:aff id="aff116"><addr-line>Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland</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="aff117"><addr-line>Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France</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="aff118"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Tognazzo, Silvia" sort="Tognazzo, Silvia" uniqKey="Tognazzo S" first="Silvia" last="Tognazzo">Silvia Tognazzo</name><affiliation><nlm:aff id="aff118"><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy</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="aff119"><addr-line>Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal</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="aff120"><addr-line>Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name><affiliation><nlm:aff id="aff121"><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name><affiliation><nlm:aff id="aff122"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Guidugli, Lucia" sort="Guidugli, Lucia" uniqKey="Guidugli L" first="Lucia" last="Guidugli">Lucia Guidugli</name><affiliation><nlm:aff id="aff123"><addr-line>Department of Laboratory Medicine and Pathology, 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="aff124"><addr-line>Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name><affiliation><nlm:aff id="aff125"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name><affiliation><nlm:aff id="aff126"><addr-line>Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff128"><addr-line>Cancer Biology and Genetics Program, 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="aff127"><addr-line>Clinical Genetics Service, 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="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zhang, Liying" sort="Zhang, Liying" uniqKey="Zhang L" first="Liying" last="Zhang">Liying Zhang</name><affiliation><nlm:aff id="aff129"><addr-line>Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rau Murthy, Rohini" sort="Rau Murthy, Rohini" uniqKey="Rau Murthy R" first="Rohini" last="Rau-Murthy">Rohini Rau-Murthy</name><affiliation><nlm:aff id="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN 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="aff130"><addr-line>Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</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="aff130"><addr-line>Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Phelan, Catherine M" sort="Phelan, Catherine M" uniqKey="Phelan C" first="Catherine M." last="Phelan">Catherine M. Phelan</name><affiliation><nlm:aff id="aff131"><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, 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="aff132"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, 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="aff132"><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lejbkowicz, Flavio" sort="Lejbkowicz, Flavio" uniqKey="Lejbkowicz F" first="Flavio" last="Lejbkowicz">Flavio Lejbkowicz</name><affiliation><nlm:aff id="aff133"><addr-line>Clalit National Israeli Cancer Control Center, Haifa, Israel</addr-line></nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene" sort="Andrulis, Irene" uniqKey="Andrulis I" first="Irene" last="Andrulis">Irene Andrulis</name><affiliation><nlm:aff id="aff134"><addr-line>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Mulligan, Anna Marie" sort="Mulligan, Anna Marie" uniqKey="Mulligan A" first="Anna Marie" last="Mulligan">Anna Marie Mulligan</name><affiliation><nlm:aff id="aff135"><addr-line>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name><affiliation><nlm:aff id="aff136"><addr-line>Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation><nlm:aff id="aff137"><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="Bojesen, Anders" sort="Bojesen, Anders" uniqKey="Bojesen A" first="Anders" last="Bojesen">Anders Bojesen</name><affiliation><nlm:aff id="aff138"><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="aff139"><addr-line>Section of Molecular Diagnostics, Department of Clinical 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="aff140"><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="aff141"><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="aff141"><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, 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="aff140"><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</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="aff142"><addr-line>Sheba Medical Center, Tel Aviv, 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="aff142"><addr-line>Sheba Medical Center, Tel Aviv, Israel</addr-line></nlm:aff></affiliation></author><author><name sortKey="Shimon, Shani Paluch" sort="Shimon, Shani Paluch" uniqKey="Shimon S" first="Shani Paluch" last="Shimon">Shani Paluch Shimon</name><affiliation><nlm:aff id="aff142"><addr-line>Sheba Medical Center, Tel Aviv, Israel</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="aff143"><addr-line>Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="aff127"><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff128"><addr-line>Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="aff122"><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff123"><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, 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="aff120"><addr-line>Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia</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="aff4"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="aff1"><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><addr-line>Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></nlm:aff></affiliation></author></analytic><series><title level="j">PLoS Genetics</title><idno type="ISSN">1553-7390</idno><idno type="eISSN">1553-7404</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2</italic>, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic>). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the <italic>NEIL2</italic> (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03–1.16), p = 2.7×10<sup>−3</sup>) for association with breast cancer risk in <italic>BRCA2</italic> mutation carriers, and rs2304277 in the <italic>OGG1</italic> (8-guanine DNA glycosylase) gene, with ovarian cancer risk in <italic>BRCA1</italic> mutation carriers (HR: 1.12 95%CI: 1.03–1.21, p = 4.8×10<sup>−3</sup>). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in <italic>BRCA1/2</italic> mutation carriers and should be more comprehensively studied.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Antoniou, A" uniqKey="Antoniou A">A Antoniou</name></author><author><name sortKey="Pharoah, Pd" uniqKey="Pharoah P">PD Pharoah</name></author><author><name sortKey="Narod, S" uniqKey="Narod S">S Narod</name></author><author><name sortKey="Risch, Ha" uniqKey="Risch H">HA Risch</name></author><author><name sortKey="Eyfjord, Je" uniqKey="Eyfjord J">JE Eyfjord</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chen, S" uniqKey="Chen S">S Chen</name></author><author><name sortKey="Iversen, Es" uniqKey="Iversen E">ES Iversen</name></author><author><name sortKey="Friebel, T" uniqKey="Friebel T">T Friebel</name></author><author><name sortKey="Finkelstein, D" uniqKey="Finkelstein D">D Finkelstein</name></author><author><name sortKey="Weber, Bl" uniqKey="Weber B">BL Weber</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Milne, Rl" uniqKey="Milne R">RL Milne</name></author><author><name sortKey="Osorio, A" uniqKey="Osorio A">A Osorio</name></author><author><name sortKey="Cajal, Tr" uniqKey="Cajal T">TR Cajal</name></author><author><name sortKey="Vega, A" uniqKey="Vega A">A Vega</name></author><author><name sortKey="Llort, G" uniqKey="Llort G">G Llort</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chenevix Trench, G" uniqKey="Chenevix Trench G">G Chenevix-Trench</name></author><author><name sortKey="Milne, Rl" uniqKey="Milne R">RL Milne</name></author><author><name sortKey="Antoniou, Ac" uniqKey="Antoniou A">AC Antoniou</name></author><author><name sortKey="Couch, Fj" uniqKey="Couch F">FJ Couch</name></author><author><name sortKey="Easton, Df" uniqKey="Easton D">DF 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<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS Genet</journal-id><journal-id journal-id-type="iso-abbrev">PLoS Genet</journal-id><journal-id journal-id-type="publisher-id">plos</journal-id><journal-id journal-id-type="pmc">plosgen</journal-id><journal-title-group><journal-title>PLoS Genetics</journal-title></journal-title-group><issn pub-type="ppub">1553-7390</issn><issn pub-type="epub">1553-7404</issn><publisher><publisher-name>Public Library of Science</publisher-name><publisher-loc>San Francisco, USA</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24698998</article-id><article-id pub-id-type="pmc">3974638</article-id><article-id pub-id-type="publisher-id">PGENETICS-D-13-02923</article-id><article-id pub-id-type="doi">10.1371/journal.pgen.1004256</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Biology and Life Sciences</subject><subj-group><subject>Genetics</subject><subj-group><subject>Cancer Genetics</subject></subj-group></subj-group></subj-group></article-categories><title-group><article-title>DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> Mutation Carriers</article-title><alt-title alt-title-type="running-head">Base Excision Repair Genes Are <italic>BRCA1/2</italic> Modifiers</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Osorio</surname><given-names>Ana</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref></contrib><contrib contrib-type="author"><name><surname>Milne</surname><given-names>Roger L.</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kuchenbaecker</surname><given-names>Karoline</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vaclová</surname><given-names>Tereza</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pita</surname><given-names>Guillermo</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Alonso</surname><given-names>Rosario</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Peterlongo</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>de la Hoya</surname><given-names>Miguel</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Duran</surname><given-names>Mercedes</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Díez</surname><given-names>Orland</given-names></name><xref ref-type="aff" rid="aff10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ramón y Cajal</surname><given-names>Teresa</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Konstantopoulou</surname><given-names>Irene</given-names></name><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Martínez-Bouzas</surname><given-names>Cristina</given-names></name><xref ref-type="aff" rid="aff13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Andrés Conejero</surname><given-names>Raquel</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Soucy</surname><given-names>Penny</given-names></name><xref ref-type="aff" rid="aff15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Barrowdale</surname><given-names>Daniel</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Andrew</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>SWE-BRCA</surname><given-names></given-names></name><xref ref-type="aff" rid="aff16"><sup>16</sup></xref><xref ref-type="author-notes" rid="fn1"><sup>¶</sup></xref></contrib><contrib contrib-type="author"><name><surname>Arver</surname><given-names>Brita</given-names></name><xref ref-type="aff" rid="aff17"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rantala</surname><given-names>Johanna</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Loman</surname><given-names>Niklas</given-names></name><xref ref-type="aff" rid="aff19"><sup>19</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ehrencrona</surname><given-names>Hans</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Olopade</surname><given-names>Olufunmilayo I.</given-names></name><xref ref-type="aff" rid="aff21"><sup>21</sup></xref></contrib><contrib contrib-type="author"><name><surname>Beattie</surname><given-names>Mary S.</given-names></name><xref ref-type="aff" rid="aff22"><sup>22</sup></xref></contrib><contrib contrib-type="author"><name><surname>Domchek</surname><given-names>Susan M.</given-names></name><xref ref-type="aff" rid="aff23"><sup>23</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Katherine</given-names></name><xref ref-type="aff" rid="aff23"><sup>23</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rebbeck</surname><given-names>Timothy R.</given-names></name><xref ref-type="aff" rid="aff24"><sup>24</sup></xref></contrib><contrib contrib-type="author"><name><surname>Arun</surname><given-names>Banu K.</given-names></name><xref ref-type="aff" rid="aff25"><sup>25</sup></xref></contrib><contrib contrib-type="author"><name><surname>Karlan</surname><given-names>Beth Y.</given-names></name><xref ref-type="aff" rid="aff26"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Walsh</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff26"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lester</surname><given-names>Jenny</given-names></name><xref ref-type="aff" rid="aff26"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>John</surname><given-names>Esther M.</given-names></name><xref ref-type="aff" rid="aff27"><sup>27</sup></xref></contrib><contrib contrib-type="author"><name><surname>Whittemore</surname><given-names>Alice S.</given-names></name><xref ref-type="aff" rid="aff28"><sup>28</sup></xref></contrib><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mary B.</given-names></name><xref ref-type="aff" rid="aff29"><sup>29</sup></xref></contrib><contrib contrib-type="author"><name><surname>Southey</surname><given-names>Melissa</given-names></name><xref ref-type="aff" rid="aff30"><sup>30</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hopper</surname><given-names>John</given-names></name><xref ref-type="aff" rid="aff31"><sup>31</sup></xref></contrib><contrib contrib-type="author"><name><surname>Terry</surname><given-names>Mary B.</given-names></name><xref ref-type="aff" rid="aff32"><sup>32</sup></xref></contrib><contrib contrib-type="author"><name><surname>Buys</surname><given-names>Saundra S.</given-names></name><xref ref-type="aff" rid="aff33"><sup>33</sup></xref></contrib><contrib contrib-type="author"><name><surname>Janavicius</surname><given-names>Ramunas</given-names></name><xref ref-type="aff" rid="aff34"><sup>34</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dorfling</surname><given-names>Cecilia M.</given-names></name><xref ref-type="aff" rid="aff35"><sup>35</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Rensburg</surname><given-names>Elizabeth J.</given-names></name><xref ref-type="aff" rid="aff35"><sup>35</sup></xref></contrib><contrib contrib-type="author"><name><surname>Steele</surname><given-names>Linda</given-names></name><xref ref-type="aff" rid="aff36"><sup>36</sup></xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L.</given-names></name><xref ref-type="aff" rid="aff36"><sup>36</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ding</surname><given-names>Yuan Chun</given-names></name><xref ref-type="aff" rid="aff36"><sup>36</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hansen</surname><given-names>Thomas v. O.</given-names></name><xref ref-type="aff" rid="aff37"><sup>37</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jønson</surname><given-names>Lars</given-names></name><xref ref-type="aff" rid="aff37"><sup>37</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ejlertsen</surname><given-names>Bent</given-names></name><xref ref-type="aff" rid="aff38"><sup>38</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gerdes</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="aff39"><sup>39</sup></xref></contrib><contrib contrib-type="author"><name><surname>Infante</surname><given-names>Mar</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Herráez</surname><given-names>Belén</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Moreno</surname><given-names>Leticia Thais</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Weitzel</surname><given-names>Jeffrey N.</given-names></name><xref ref-type="aff" rid="aff40"><sup>40</sup></xref></contrib><contrib contrib-type="author"><name><surname>Herzog</surname><given-names>Josef</given-names></name><xref ref-type="aff" rid="aff40"><sup>40</sup></xref></contrib><contrib contrib-type="author"><name><surname>Weeman</surname><given-names>Kisa</given-names></name><xref ref-type="aff" rid="aff40"><sup>40</sup></xref></contrib><contrib contrib-type="author"><name><surname>Manoukian</surname><given-names>Siranoush</given-names></name><xref ref-type="aff" rid="aff41"><sup>41</sup></xref></contrib><contrib contrib-type="author"><name><surname>Peissel</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="aff41"><sup>41</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zaffaroni</surname><given-names>Daniela</given-names></name><xref ref-type="aff" rid="aff41"><sup>41</sup></xref></contrib><contrib contrib-type="author"><name><surname>Scuvera</surname><given-names>Giulietta</given-names></name><xref ref-type="aff" rid="aff41"><sup>41</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bonanni</surname><given-names>Bernardo</given-names></name><xref ref-type="aff" rid="aff42"><sup>42</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mariette</surname><given-names>Frederique</given-names></name><xref ref-type="aff" rid="aff43"><sup>43</sup></xref></contrib><contrib contrib-type="author"><name><surname>Volorio</surname><given-names>Sara</given-names></name><xref ref-type="aff" rid="aff43"><sup>43</sup></xref></contrib><contrib contrib-type="author"><name><surname>Viel</surname><given-names>Alessandra</given-names></name><xref ref-type="aff" rid="aff44"><sup>44</sup></xref></contrib><contrib contrib-type="author"><name><surname>Varesco</surname><given-names>Liliana</given-names></name><xref ref-type="aff" rid="aff45"><sup>45</sup></xref></contrib><contrib contrib-type="author"><name><surname>Papi</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="aff46"><sup>46</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ottini</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="aff47"><sup>47</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tibiletti</surname><given-names>Maria Grazia</given-names></name><xref ref-type="aff" rid="aff48"><sup>48</sup></xref></contrib><contrib contrib-type="author"><name><surname>Radice</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="aff49"><sup>49</sup></xref></contrib><contrib contrib-type="author"><name><surname>Yannoukakos</surname><given-names>Drakoulis</given-names></name><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Garber</surname><given-names>Judy</given-names></name><xref ref-type="aff" rid="aff50"><sup>50</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ellis</surname><given-names>Steve</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Frost</surname><given-names>Debra</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Platte</surname><given-names>Radka</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fineberg</surname><given-names>Elena</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Evans</surname><given-names>Gareth</given-names></name><xref ref-type="aff" rid="aff51"><sup>51</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lalloo</surname><given-names>Fiona</given-names></name><xref ref-type="aff" rid="aff51"><sup>51</sup></xref></contrib><contrib contrib-type="author"><name><surname>Izatt</surname><given-names>Louise</given-names></name><xref ref-type="aff" rid="aff52"><sup>52</sup></xref></contrib><contrib contrib-type="author"><name><surname>Eeles</surname><given-names>Ros</given-names></name><xref ref-type="aff" rid="aff53"><sup>53</sup></xref></contrib><contrib contrib-type="author"><name><surname>Adlard</surname><given-names>Julian</given-names></name><xref ref-type="aff" rid="aff54"><sup>54</sup></xref></contrib><contrib contrib-type="author"><name><surname>Davidson</surname><given-names>Rosemarie</given-names></name><xref ref-type="aff" rid="aff55"><sup>55</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cole</surname><given-names>Trevor</given-names></name><xref ref-type="aff" rid="aff56"><sup>56</sup></xref></contrib><contrib contrib-type="author"><name><surname>Eccles</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="aff57"><sup>57</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cook</surname><given-names>Jackie</given-names></name><xref ref-type="aff" rid="aff58"><sup>58</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hodgson</surname><given-names>Shirley</given-names></name><xref ref-type="aff" rid="aff59"><sup>59</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brewer</surname><given-names>Carole</given-names></name><xref ref-type="aff" rid="aff60"><sup>60</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tischkowitz</surname><given-names>Marc</given-names></name><xref ref-type="aff" rid="aff61"><sup>61</sup></xref></contrib><contrib contrib-type="author"><name><surname>Douglas</surname><given-names>Fiona</given-names></name><xref ref-type="aff" rid="aff62"><sup>62</sup></xref></contrib><contrib contrib-type="author"><name><surname>Porteous</surname><given-names>Mary</given-names></name><xref ref-type="aff" rid="aff63"><sup>63</sup></xref></contrib><contrib contrib-type="author"><name><surname>Side</surname><given-names>Lucy</given-names></name><xref ref-type="aff" rid="aff64"><sup>64</sup></xref></contrib><contrib contrib-type="author"><name><surname>Walker</surname><given-names>Lisa</given-names></name><xref ref-type="aff" rid="aff65"><sup>65</sup></xref></contrib><contrib contrib-type="author"><name><surname>Morrison</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="aff66"><sup>66</sup></xref></contrib><contrib contrib-type="author"><name><surname>Donaldson</surname><given-names>Alan</given-names></name><xref ref-type="aff" rid="aff67"><sup>67</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kennedy</surname><given-names>John</given-names></name><xref ref-type="aff" rid="aff68"><sup>68</sup></xref></contrib><contrib contrib-type="author"><name><surname>Foo</surname><given-names>Claire</given-names></name><xref ref-type="aff" rid="aff69"><sup>69</sup></xref></contrib><contrib contrib-type="author"><name><surname>Godwin</surname><given-names>Andrew K.</given-names></name><xref ref-type="aff" rid="aff70"><sup>70</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schmutzler</surname><given-names>Rita Katharina</given-names></name><xref ref-type="aff" rid="aff71"><sup>71</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wappenschmidt</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="aff71"><sup>71</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rhiem</surname><given-names>Kerstin</given-names></name><xref ref-type="aff" rid="aff71"><sup>71</sup></xref></contrib><contrib contrib-type="author"><name><surname>Engel</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="aff72"><sup>72</sup></xref></contrib><contrib contrib-type="author"><name><surname>Meindl</surname><given-names>Alfons</given-names></name><xref ref-type="aff" rid="aff73"><sup>73</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ditsch</surname><given-names>Nina</given-names></name><xref ref-type="aff" rid="aff73"><sup>73</sup></xref></contrib><contrib contrib-type="author"><name><surname>Arnold</surname><given-names>Norbert</given-names></name><xref ref-type="aff" rid="aff74"><sup>74</sup></xref></contrib><contrib contrib-type="author"><name><surname>Plendl</surname><given-names>Hans Jörg</given-names></name><xref ref-type="aff" rid="aff75"><sup>75</sup></xref></contrib><contrib contrib-type="author"><name><surname>Niederacher</surname><given-names>Dieter</given-names></name><xref ref-type="aff" rid="aff76"><sup>76</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sutter</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="aff77"><sup>77</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wang-Gohrke</surname><given-names>Shan</given-names></name><xref ref-type="aff" rid="aff78"><sup>78</sup></xref></contrib><contrib contrib-type="author"><name><surname>Steinemann</surname><given-names>Doris</given-names></name><xref ref-type="aff" rid="aff79"><sup>79</sup></xref></contrib><contrib contrib-type="author"><name><surname>Preisler-Adams</surname><given-names>Sabine</given-names></name><xref ref-type="aff" rid="aff80"><sup>80</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kast</surname><given-names>Karin</given-names></name><xref ref-type="aff" rid="aff81"><sup>81</sup></xref></contrib><contrib contrib-type="author"><name><surname>Varon-Mateeva</surname><given-names>Raymonda</given-names></name><xref ref-type="aff" rid="aff82"><sup>82</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gehrig</surname><given-names>Andrea</given-names></name><xref ref-type="aff" rid="aff83"><sup>83</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="aff84"><sup>84</sup></xref><xref ref-type="aff" rid="aff85"><sup>85</sup></xref><xref ref-type="aff" rid="aff86"><sup>86</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sinilnikova</surname><given-names>Olga M.</given-names></name><xref ref-type="aff" rid="aff87"><sup>87</sup></xref><xref ref-type="aff" rid="aff88"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mazoyer</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="aff88"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Damiola</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="aff88"><sup>88</sup></xref></contrib><contrib contrib-type="author"><name><surname>Poppe</surname><given-names>Bruce</given-names></name><xref ref-type="aff" rid="aff89"><sup>89</sup></xref></contrib><contrib contrib-type="author"><name><surname>Claes</surname><given-names>Kathleen</given-names></name><xref ref-type="aff" rid="aff89"><sup>89</sup></xref></contrib><contrib contrib-type="author"><name><surname>Piedmonte</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="aff90"><sup>90</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tucker</surname><given-names>Kathy</given-names></name><xref ref-type="aff" rid="aff91"><sup>91</sup></xref></contrib><contrib contrib-type="author"><name><surname>Backes</surname><given-names>Floor</given-names></name><xref ref-type="aff" rid="aff92"><sup>92</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rodríguez</surname><given-names>Gustavo</given-names></name><xref ref-type="aff" rid="aff93"><sup>93</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brewster</surname><given-names>Wendy</given-names></name><xref ref-type="aff" rid="aff94"><sup>94</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wakeley</surname><given-names>Katie</given-names></name><xref ref-type="aff" rid="aff95"><sup>95</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rutherford</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aff96"><sup>96</sup></xref></contrib><contrib contrib-type="author"><name><surname>Caldés</surname><given-names>Trinidad</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nevanlinna</surname><given-names>Heli</given-names></name><xref ref-type="aff" rid="aff97"><sup>97</sup></xref></contrib><contrib contrib-type="author"><name><surname>Aittomäki</surname><given-names>Kristiina</given-names></name><xref ref-type="aff" rid="aff97"><sup>97</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rookus</surname><given-names>Matti A.</given-names></name><xref ref-type="aff" rid="aff98"><sup>98</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Os</surname><given-names>Theo A. M.</given-names></name><xref ref-type="aff" rid="aff99"><sup>99</sup></xref></contrib><contrib contrib-type="author"><name><surname>van der Kolk</surname><given-names>Lizet</given-names></name><xref ref-type="aff" rid="aff100"><sup>100</sup></xref></contrib><contrib contrib-type="author"><name><surname>de Lange</surname><given-names>J. L.</given-names></name><xref ref-type="aff" rid="aff101"><sup>101</sup></xref></contrib><contrib contrib-type="author"><name><surname>Meijers-Heijboer</surname><given-names>Hanne E. J.</given-names></name><xref ref-type="aff" rid="aff102"><sup>102</sup></xref></contrib><contrib contrib-type="author"><name><surname>van der Hout</surname><given-names>A. H.</given-names></name><xref ref-type="aff" rid="aff103"><sup>103</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Asperen</surname><given-names>Christi J.</given-names></name><xref ref-type="aff" rid="aff104"><sup>104</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gómez Garcia</surname><given-names>Encarna B.</given-names></name><xref ref-type="aff" rid="aff105"><sup>105</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hoogerbrugge</surname><given-names>Nicoline</given-names></name><xref ref-type="aff" rid="aff106"><sup>106</sup></xref></contrib><contrib contrib-type="author"><name><surname>Collée</surname><given-names>J. Margriet</given-names></name><xref ref-type="aff" rid="aff107"><sup>107</sup></xref></contrib><contrib contrib-type="author"><name><surname>van Deurzen</surname><given-names>Carolien H. M.</given-names></name><xref ref-type="aff" rid="aff108"><sup>108</sup></xref></contrib><contrib contrib-type="author"><name><surname>van der Luijt</surname><given-names>Rob B.</given-names></name><xref ref-type="aff" rid="aff109"><sup>109</sup></xref></contrib><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="aff110"><sup>110</sup></xref></contrib><contrib contrib-type="author"><name><surname>HEBON</surname><given-names></given-names></name><xref ref-type="aff" rid="aff111"><sup>111</sup></xref><xref ref-type="author-notes" rid="fn1"><sup>¶</sup></xref></contrib><contrib contrib-type="author"><name><surname>Olah</surname><given-names>Edith</given-names></name><xref ref-type="aff" rid="aff112"><sup>112</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lázaro</surname><given-names>Conxi</given-names></name><xref ref-type="aff" rid="aff113"><sup>113</sup></xref></contrib><contrib contrib-type="author"><name><surname>Teulé</surname><given-names>Alex</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Menéndez</surname><given-names>Mireia</given-names></name><xref ref-type="aff" rid="aff113"><sup>113</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jakubowska</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cybulski</surname><given-names>Cezary</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gronwald</surname><given-names>Jacek</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lubinski</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><name><surname>Durda</surname><given-names>Katarzyna</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jaworska-Bieniek</surname><given-names>Katarzyna</given-names></name><xref ref-type="aff" rid="aff114"><sup>114</sup></xref><xref ref-type="aff" rid="aff115"><sup>115</sup></xref></contrib><contrib contrib-type="author"><name><surname>Johannsson</surname><given-names>Oskar Th.</given-names></name><xref ref-type="aff" rid="aff116"><sup>116</sup></xref></contrib><contrib contrib-type="author"><name><surname>Maugard</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff117"><sup>117</sup></xref></contrib><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="aff118"><sup>118</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tognazzo</surname><given-names>Silvia</given-names></name><xref ref-type="aff" rid="aff118"><sup>118</sup></xref></contrib><contrib contrib-type="author"><name><surname>Teixeira</surname><given-names>Manuel R.</given-names></name><xref ref-type="aff" rid="aff119"><sup>119</sup></xref></contrib><contrib contrib-type="author"><name><surname>Healey</surname><given-names>Sue</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref></contrib><contrib contrib-type="author"><name><surname>Investigators</surname><given-names>kConFab</given-names></name><xref ref-type="aff" rid="aff121"><sup>121</sup></xref><xref ref-type="author-notes" rid="fn1"><sup>¶</sup></xref></contrib><contrib contrib-type="author"><name><surname>Olswold</surname><given-names>Curtis</given-names></name><xref ref-type="aff" rid="aff122"><sup>122</sup></xref></contrib><contrib contrib-type="author"><name><surname>Guidugli</surname><given-names>Lucia</given-names></name><xref ref-type="aff" rid="aff123"><sup>123</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lindor</surname><given-names>Noralane</given-names></name><xref ref-type="aff" rid="aff124"><sup>124</sup></xref></contrib><contrib contrib-type="author"><name><surname>Slager</surname><given-names>Susan</given-names></name><xref ref-type="aff" rid="aff125"><sup>125</sup></xref></contrib><contrib contrib-type="author"><name><surname>Szabo</surname><given-names>Csilla I.</given-names></name><xref ref-type="aff" rid="aff126"><sup>126</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vijai</surname><given-names>Joseph</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>Robson</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="aff127"><sup>127</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kauff</surname><given-names>Noah</given-names></name><xref ref-type="aff" rid="aff127"><sup>127</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Liying</given-names></name><xref ref-type="aff" rid="aff129"><sup>129</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rau-Murthy</surname><given-names>Rohini</given-names></name><xref ref-type="aff" rid="aff127"><sup>127</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fink-Retter</surname><given-names>Anneliese</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rappaport</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Geschwantler Kaulich</surname><given-names>Daphne</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pfeiler</surname><given-names>Georg</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tea</surname><given-names>Muy-Kheng</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Berger</surname><given-names>Andreas</given-names></name><xref ref-type="aff" rid="aff130"><sup>130</sup></xref></contrib><contrib contrib-type="author"><name><surname>Phelan</surname><given-names>Catherine M.</given-names></name><xref ref-type="aff" rid="aff131"><sup>131</sup></xref></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Mark H.</given-names></name><xref ref-type="aff" rid="aff132"><sup>132</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mai</surname><given-names>Phuong L.</given-names></name><xref ref-type="aff" rid="aff132"><sup>132</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lejbkowicz</surname><given-names>Flavio</given-names></name><xref ref-type="aff" rid="aff133"><sup>133</sup></xref></contrib><contrib contrib-type="author"><name><surname>Andrulis</surname><given-names>Irene</given-names></name><xref ref-type="aff" rid="aff134"><sup>134</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mulligan</surname><given-names>Anna Marie</given-names></name><xref ref-type="aff" rid="aff135"><sup>135</sup></xref></contrib><contrib contrib-type="author"><name><surname>Glendon</surname><given-names>Gord</given-names></name><xref ref-type="aff" rid="aff136"><sup>136</sup></xref></contrib><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda Ewart</given-names></name><xref ref-type="aff" rid="aff137"><sup>137</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bojesen</surname><given-names>Anders</given-names></name><xref ref-type="aff" rid="aff138"><sup>138</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pedersen</surname><given-names>Inge Sokilde</given-names></name><xref ref-type="aff" rid="aff139"><sup>139</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sunde</surname><given-names>Lone</given-names></name><xref ref-type="aff" rid="aff140"><sup>140</sup></xref></contrib><contrib contrib-type="author"><name><surname>Thomassen</surname><given-names>Mads</given-names></name><xref ref-type="aff" rid="aff141"><sup>141</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kruse</surname><given-names>Torben A.</given-names></name><xref ref-type="aff" rid="aff141"><sup>141</sup></xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Uffe Birk</given-names></name><xref ref-type="aff" rid="aff140"><sup>140</sup></xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Eitan</given-names></name><xref ref-type="aff" rid="aff142"><sup>142</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laitman</surname><given-names>Yael</given-names></name><xref ref-type="aff" rid="aff142"><sup>142</sup></xref></contrib><contrib contrib-type="author"><name><surname>Shimon</surname><given-names>Shani Paluch</given-names></name><xref ref-type="aff" rid="aff142"><sup>142</sup></xref></contrib><contrib contrib-type="author"><name><surname>Simard</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="aff143"><sup>143</sup></xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Kenneth</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>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="aff122"><sup>122</sup></xref><xref ref-type="aff" rid="aff123"><sup>123</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="aff120"><sup>120</sup></xref></contrib><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Benitez</surname><given-names>Javier</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib></contrib-group><aff id="aff1"><label>1</label><addr-line>Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></aff><aff id="aff2"><label>2</label><addr-line>Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain</addr-line></aff><aff id="aff3"><label>3</label><addr-line>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia</addr-line></aff><aff id="aff4"><label>4</label><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom</addr-line></aff><aff id="aff5"><label>5</label><addr-line>Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain</addr-line></aff><aff id="aff6"><label>6</label><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy</addr-line></aff><aff id="aff7"><label>7</label><addr-line>Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</addr-line></aff><aff id="aff8"><label>8</label><addr-line>Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain</addr-line></aff><aff id="aff9"><label>9</label><addr-line>Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain</addr-line></aff><aff id="aff10"><label>10</label><addr-line>Oncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Institut de Recerca (VHIR), and Universitat Autonoma de Barcelona, Barcelona, Spain</addr-line></aff><aff id="aff11"><label>11</label><addr-line>Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain</addr-line></aff><aff id="aff12"><label>12</label><addr-line>Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece</addr-line></aff><aff id="aff13"><label>13</label><addr-line>Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain</addr-line></aff><aff id="aff14"><label>14</label><addr-line>Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain</addr-line></aff><aff id="aff15"><label>15</label><addr-line>Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</addr-line></aff><aff id="aff16"><label>16</label><addr-line>Department of Oncology, Lund University, Lund, Sweden</addr-line></aff><aff id="aff17"><label>17</label><addr-line>Department of Oncology, Karolinska University Hospital, Stockholm, Sweden</addr-line></aff><aff id="aff18"><label>18</label><addr-line>Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden</addr-line></aff><aff id="aff19"><label>19</label><addr-line>Department of Oncology, Lund University Hospital, Lund, Sweden</addr-line></aff><aff id="aff20"><label>20</label><addr-line>Department of Clinical Genetics, Lund University Hospital, Lund, Sweden</addr-line></aff><aff id="aff21"><label>21</label><addr-line>Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America</addr-line></aff><aff id="aff22"><label>22</label><addr-line>Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America</addr-line></aff><aff id="aff23"><label>23</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="aff24"><label>24</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="aff25"><label>25</label><addr-line>University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America</addr-line></aff><aff id="aff26"><label>26</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="aff27"><label>27</label><addr-line>Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America</addr-line></aff><aff id="aff28"><label>28</label><addr-line>Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America</addr-line></aff><aff id="aff29"><label>29</label><addr-line>Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America</addr-line></aff><aff id="aff30"><label>30</label><addr-line>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia</addr-line></aff><aff id="aff31"><label>31</label><addr-line>Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia</addr-line></aff><aff id="aff32"><label>32</label><addr-line>Department of Epidemiology, Columbia University, New York, New York, United States of America</addr-line></aff><aff id="aff33"><label>33</label><addr-line>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America</addr-line></aff><aff id="aff34"><label>34</label><addr-line>Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania</addr-line></aff><aff id="aff35"><label>35</label><addr-line>Department of Genetics, University of Pretoria, Pretoria, South Africa</addr-line></aff><aff id="aff36"><label>36</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="aff37"><label>37</label><addr-line>Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</addr-line></aff><aff id="aff38"><label>38</label><addr-line>Department of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</addr-line></aff><aff id="aff39"><label>39</label><addr-line>Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</addr-line></aff><aff id="aff40"><label>40</label><addr-line>Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America</addr-line></aff><aff id="aff41"><label>41</label><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></aff><aff id="aff42"><label>42</label><addr-line>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy</addr-line></aff><aff id="aff43"><label>43</label><addr-line>IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy</addr-line></aff><aff id="aff44"><label>44</label><addr-line>Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy</addr-line></aff><aff id="aff45"><label>45</label><addr-line>Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy</addr-line></aff><aff id="aff46"><label>46</label><addr-line>Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy</addr-line></aff><aff id="aff47"><label>47</label><addr-line>Department of Molecular Medicine, “Sapienza” University, Rome, Italy</addr-line></aff><aff id="aff48"><label>48</label><addr-line>UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy</addr-line></aff><aff id="aff49"><label>49</label><addr-line>Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</addr-line></aff><aff id="aff50"><label>50</label><addr-line>Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America</addr-line></aff><aff id="aff51"><label>51</label><addr-line>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom</addr-line></aff><aff id="aff52"><label>52</label><addr-line>South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom</addr-line></aff><aff id="aff53"><label>53</label><addr-line>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom</addr-line></aff><aff id="aff54"><label>54</label><addr-line>Yorkshire Regional Genetics Service, Leeds, United Kingdom</addr-line></aff><aff id="aff55"><label>55</label><addr-line>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom</addr-line></aff><aff id="aff56"><label>56</label><addr-line>West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom</addr-line></aff><aff id="aff57"><label>57</label><addr-line>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom</addr-line></aff><aff id="aff58"><label>58</label><addr-line>Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom</addr-line></aff><aff id="aff59"><label>59</label><addr-line>Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom</addr-line></aff><aff id="aff60"><label>60</label><addr-line>Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom</addr-line></aff><aff id="aff61"><label>61</label><addr-line>Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom</addr-line></aff><aff id="aff62"><label>62</label><addr-line>Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom</addr-line></aff><aff id="aff63"><label>63</label><addr-line>South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom</addr-line></aff><aff id="aff64"><label>64</label><addr-line>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom</addr-line></aff><aff id="aff65"><label>65</label><addr-line>Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom</addr-line></aff><aff id="aff66"><label>66</label><addr-line>Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom</addr-line></aff><aff id="aff67"><label>67</label><addr-line>South West Regional Genetics Service, Bristol, United Kingdom</addr-line></aff><aff id="aff68"><label>68</label><addr-line>Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire</addr-line></aff><aff id="aff69"><label>69</label><addr-line>Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</addr-line></aff><aff id="aff70"><label>70</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="aff71"><label>71</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="aff72"><label>72</label><addr-line>Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</addr-line></aff><aff id="aff73"><label>73</label><addr-line>Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany</addr-line></aff><aff id="aff74"><label>74</label><addr-line>Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany</addr-line></aff><aff id="aff75"><label>75</label><addr-line>Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany</addr-line></aff><aff id="aff76"><label>76</label><addr-line>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany</addr-line></aff><aff id="aff77"><label>77</label><addr-line>Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany</addr-line></aff><aff id="aff78"><label>78</label><addr-line>Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany</addr-line></aff><aff id="aff79"><label>79</label><addr-line>Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany</addr-line></aff><aff id="aff80"><label>80</label><addr-line>Institute of Human Genetics, University of Münster, Münster, Germany</addr-line></aff><aff id="aff81"><label>81</label><addr-line>Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany</addr-line></aff><aff id="aff82"><label>82</label><addr-line>Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany</addr-line></aff><aff id="aff83"><label>83</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="aff84"><label>84</label><addr-line>Institut Curie, Department of Tumour Biology, Paris, France</addr-line></aff><aff id="aff85"><label>85</label><addr-line>Institut Curie, INSERM U830, Paris, France</addr-line></aff><aff id="aff86"><label>86</label><addr-line>Université Paris Descartes, Sorbonne Paris Cité, Paris, France</addr-line></aff><aff id="aff87"><label>87</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="aff88"><label>88</label><addr-line>INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France</addr-line></aff><aff id="aff89"><label>89</label><addr-line>Center for Medical Genetics, Ghent University, Ghent, Belgium</addr-line></aff><aff id="aff90"><label>90</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="aff91"><label>91</label><addr-line>Prince of Wales Hospital. Sydney, Australia</addr-line></aff><aff id="aff92"><label>92</label><addr-line>Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America</addr-line></aff><aff id="aff93"><label>93</label><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America</addr-line></aff><aff id="aff94"><label>94</label><addr-line>Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America</addr-line></aff><aff id="aff95"><label>95</label><addr-line>For Tufts Medical Center, Boston, Massachusetts, United States of America</addr-line></aff><aff id="aff96"><label>96</label><addr-line>Yale University School of Medicine, New Haven, Connecticut, United States of America</addr-line></aff><aff id="aff97"><label>97</label><addr-line>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</addr-line></aff><aff id="aff98"><label>98</label><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></aff><aff id="aff99"><label>99</label><addr-line>Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands</addr-line></aff><aff id="aff100"><label>100</label><addr-line>Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></aff><aff id="aff101"><label>101</label><addr-line>Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></aff><aff id="aff102"><label>102</label><addr-line>Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands</addr-line></aff><aff id="aff103"><label>103</label><addr-line>University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands</addr-line></aff><aff id="aff104"><label>104</label><addr-line>Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands</addr-line></aff><aff id="aff105"><label>105</label><addr-line>Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands</addr-line></aff><aff id="aff106"><label>106</label><addr-line>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</addr-line></aff><aff id="aff107"><label>107</label><addr-line>Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></aff><aff id="aff108"><label>108</label><addr-line>Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</addr-line></aff><aff id="aff109"><label>109</label><addr-line>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</addr-line></aff><aff id="aff110"><label>110</label><addr-line>Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</addr-line></aff><aff id="aff111"><label>111</label><addr-line>The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands</addr-line></aff><aff id="aff112"><label>112</label><addr-line>Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary</addr-line></aff><aff id="aff113"><label>113</label><addr-line>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain</addr-line></aff><aff id="aff114"><label>114</label><addr-line>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</addr-line></aff><aff id="aff115"><label>115</label><addr-line>Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland</addr-line></aff><aff id="aff116"><label>116</label><addr-line>Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland</addr-line></aff><aff id="aff117"><label>117</label><addr-line>Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France</addr-line></aff><aff id="aff118"><label>118</label><addr-line>Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy</addr-line></aff><aff id="aff119"><label>119</label><addr-line>Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal</addr-line></aff><aff id="aff120"><label>120</label><addr-line>Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia</addr-line></aff><aff id="aff121"><label>121</label><addr-line>Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia</addr-line></aff><aff id="aff122"><label>122</label><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></aff><aff id="aff123"><label>123</label><addr-line>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></aff><aff id="aff124"><label>124</label><addr-line>Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America</addr-line></aff><aff id="aff125"><label>125</label><addr-line>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America</addr-line></aff><aff id="aff126"><label>126</label><addr-line>Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America</addr-line></aff><aff id="aff127"><label>127</label><addr-line>Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></aff><aff id="aff128"><label>128</label><addr-line>Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></aff><aff id="aff129"><label>129</label><addr-line>Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America</addr-line></aff><aff id="aff130"><label>130</label><addr-line>Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria</addr-line></aff><aff id="aff131"><label>131</label><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America</addr-line></aff><aff id="aff132"><label>132</label><addr-line>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America</addr-line></aff><aff id="aff133"><label>133</label><addr-line>Clalit National Israeli Cancer Control Center, Haifa, Israel</addr-line></aff><aff id="aff134"><label>134</label><addr-line>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</addr-line></aff><aff id="aff135"><label>135</label><addr-line>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada</addr-line></aff><aff id="aff136"><label>136</label><addr-line>Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada</addr-line></aff><aff id="aff137"><label>137</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="aff138"><label>138</label><addr-line>Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark</addr-line></aff><aff id="aff139"><label>139</label><addr-line>Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark</addr-line></aff><aff id="aff140"><label>140</label><addr-line>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</addr-line></aff><aff id="aff141"><label>141</label><addr-line>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</addr-line></aff><aff id="aff142"><label>142</label><addr-line>Sheba Medical Center, Tel Aviv, Israel</addr-line></aff><aff id="aff143"><label>143</label><addr-line>Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Horwitz</surname><given-names>Marshall S.</given-names></name><role>Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1"><addr-line>University of Washington, United States of America</addr-line></aff><author-notes><corresp id="cor1">* E-mail: <email>aosorio@cnio.es</email></corresp><fn fn-type="conflict"><p>The authors have declared that no competing interests exist.</p></fn><fn fn-type="con"><p>Conceived and designed the experiments: AO RLM GPi JB. Performed the experiments: AO TV RA BH LTM JS KO FJC. Analyzed the data: RLM KKu ACA. Contributed reagents/materials/analysis tools: AO RLM KKu TV GPi RA PP IB MdlH MD OD TRyC IK CMB RAC PS LM DB AL BA JR NLo HE OIO MSB SMD KN TRR BKA BYK CW JLe EMJ ASW MBD MS JHo MBT SSB RJ CMD EJvR LSt SLN YCD TOvH LJ BE AMG MI BH LTM JNW JHe KWe SMan BPe DZ GS BB FM SV AV LV LP LO MGT PR DY JGa SE DF RP EFi GE FLa LI RE JA RD TCo DE JC SHo CB MTi FDo MPo LSi LW PM AD JK CF AKG RKS BW KR CE AM ND NA HJP DN CS SWG DS SPA KKa RVM AG DSL OMS SMaz FDa BPo KC MPi KT FB GR WB KWa TR TCa HN KA MAR TAMvO LvdK JLdL HEJMH AHvdH CJvA EBBG NH JMC CHMvD RBvdL PD EO CL AT MMe AJ CC JGr JLu KD KJB OTJ CM MMo ST MRT SHe CO LG NLi SS CIS JV MR NK LZ RRM AFR CFS CR DGK GPf MKT ABe CMP MHG PLM FLe IA AMM GG AET ABo ISP LSu MTh TAK UBJ EFr YL SPS JS DFE KO FJC GCT ACA JB. Wrote the paper: AO RLM KKu ACA JB.</p></fn><fn id="fn1" fn-type="other"><p>¶ Full membership of SWE-BRCA, HEBON and kConFab Investigators is provided in the Acknowledgments.</p></fn></author-notes><pub-date pub-type="collection"><month>4</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>3</day><month>4</month><year>2014</year></pub-date><volume>10</volume><issue>4</issue><elocation-id>e1004256</elocation-id><history><date date-type="received"><day>23</day><month>10</month><year>2013</year></date><date date-type="accepted"><day>4</day><month>2</month><year>2014</year></date></history><permissions><copyright-year>2014</copyright-year><license xlink:href="https://creativecommons.org/publicdomain/zero/1.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.</license-p></license></permissions><abstract><p>Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes <italic>BRCA1</italic> and <italic>BRCA2</italic>, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic>). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the <italic>NEIL2</italic> (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03–1.16), p = 2.7×10<sup>−3</sup>) for association with breast cancer risk in <italic>BRCA2</italic> mutation carriers, and rs2304277 in the <italic>OGG1</italic> (8-guanine DNA glycosylase) gene, with ovarian cancer risk in <italic>BRCA1</italic> mutation carriers (HR: 1.12 95%CI: 1.03–1.21, p = 4.8×10<sup>−3</sup>). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in <italic>BRCA1/2</italic> mutation carriers and should be more comprehensively studied.</p></abstract><abstract abstract-type="summary"><title>Author Summary</title><p>Women harboring a germ-line mutation in the <italic>BRCA1</italic> or <italic>BRCA2</italic> genes have a high lifetime risk to develop breast and/or ovarian cancer. However, not all carriers develop cancer and high variability exists regarding age of onset of the disease and type of tumor. One of the causes of this variability lies in other genetic factors that modulate the phenotype, the so-called modifier genes. Identification of these genes might have important implications for risk assessment and decision making regarding prevention of the disease. Given that <italic>BRCA1</italic> and <italic>BRCA2</italic> participate in the repair of DNA double strand breaks, here we have investigated whether variations, Single Nucleotide Polymorphisms (SNPs), in genes participating in other DNA repair pathway may be associated with cancer risk in BRCA carriers. We have selected the Base Excision Repair pathway because BRCA defective cells are extremely sensitive to the inhibition of one of its components, PARP1. Thanks to a large international collaborative effort, we have been able to identify at least two SNPs that are associated with increased cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers respectively. These findings could have implications not only for risk assessment, but also for treatment of <italic>BRCA1/2</italic> mutation carriers with PARP inhibitors.</p></abstract><funding-group><funding-statement>The CNIO study was supported by Mutua Madrileña Foundation (FMMA), Spanish Association against Cancer (AECC08), RTICC 06/0020/1060 and FISPI12/00070. Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C5047/A8384, C5047/A15007, C5047/A10692), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (No. 1 U19 CA 148537 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. SWE-BRCA collaborators are supported by the Swedish Cancer Society. BRCA-gene mutations and breast cancer in South African women (BMBSA) was supported by grants from the Cancer Association of South Africa (CANSA) to EJvR. 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. UPENN study is supported by Basser Research Center (SMD, KN, TRR), Breast Cancer Research Foundation (KN), Komen Foundation for the Cure (SMD). 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). BCFR study: 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 US Government or the BCFR. 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. BRICOH study: NIH R01CA74415 and P30 CA033752. SLN was partially supported by the Morris and Horowitz Families Professorship. CBCS work was supported by the NEYE Foundation. The City of Hope Clinical Cancer Genetics Community Research Network is supported by Award Number RC4A153828 (PI: JNW) from the National Cancer Institute and the Office of the Director, National Institutes of Health. The members of CONSIT TEAM were funded by grants from the Italian Association for Cancer Research (AIRC) to PP, LO and PR; FiorGen Foundation for Pharmacogenomics to LP; Associazione CAOS Varese to MGT and by funds from Italian citizens who allocated the 5×1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5×1000’) to SMan and PR. 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. We wish to thank Hellenic Cooperative Oncology Group (HeCOG) and the Hellenic Foundation for Cancer Research (HFCR). EMBRACE is supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. GE and FLa are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust 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 Elizabeth Bancroft are supported by Cancer Research UK Grant C5047/A8385. FCCC study: 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. 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). This study was kindly supported by the German Cancer Aid to RKS (grant no 109076) and by the Center for Molecular Medicine Cologne (CMMC). GEMO study: 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. GOG study: 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 Sharon A. Savage were supported by funding from the Intramural Research Program, NCI. This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group (GOG) CA 27469, CA 37517, and CA 101165. HCSC study was supported by a grant RD06/0020/0021 from RTICC (ISCIII), Spanish Ministry of Economy and Competitivity. 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. 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. Hungarian Breast and Ovarian Cancer Study was supported by Hungarian Research Grant KTIA-OTKA CK-80745. IHCC study: KJB is a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University, supported by the Polish Foundation of Science. The ILUH group was supported by the Nordic Cancer Union, Icelandic Association “Walking for Breast Cancer Research” 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 study was supported by Ministero dell'Istruzione, dell'Università e della Ricerca and Ministero della Salute. 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 Amanda B. Spurdle are NHMRC Senior Research Fellows. MAYO is supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341) and grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure. MSKCC was supported by the Sharon Levine Corzine Fund, Breast Cancer Research Foundation, Niehaus Clinical Cancer Genetics Initiative, Andrew Sabin Family Foundation and Lymphoma Foundation. NCI study: The research of MHG, PLM and Sharon A. Savage was supported by the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Inc, Rockville, MD. NICCC is supported by Clalit Health Services in Israel. Some of its activities are supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. OSUCCG is supported by the Ohio State University Comprehensive Cancer Center. SMC study: This project was partially funded through a grant by the Israel cancer association and the funding for the Israeli Inherited breast cancer consortium. 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><page-count count="12"></page-count></counts></article-meta></front><body><sec id="s1"><title>Introduction</title><p>Carrying an inherited mutation in the <italic>BRCA1</italic> or <italic>BRCA2</italic> gene increases a woman's lifetime risk of developing breast, ovarian and other cancers. The estimated cumulative risk of developing breast cancer by the age of 70 in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers varies between 43% to 88%; similarly, between 11% to 59% of mutation carriers will develop ovarian cancer by the age of 70 <xref rid="pgen.1004256-Antoniou1" ref-type="bibr">[1]</xref>–<xref rid="pgen.1004256-Milne1" ref-type="bibr">[3]</xref>. These considerable differences in disease manifestation suggest the existence of other genetic or environmental factors that modify the risk of cancer development. The Consortium of Investigators of Modifiers of <italic>BRCA1</italic> and <italic>BRCA2</italic> (CIMBA), was established in 2006 <xref rid="pgen.1004256-ChenevixTrench1" ref-type="bibr">[4]</xref> and with more than 40,000 mutation carriers currently provides the largest sample size for reliable evaluation of even modest associations between single-nucleotide polymorphisms (SNPs) and cancer risk. CIMBA studies have so far demonstrated that more than 25 SNPs are associated with the risk of developing breast or ovarian cancer for <italic>BRCA1</italic> or <italic>BRCA2</italic> carriers. These were identified through genome-wide association studies (GWAS) of breast or ovarian cancer in the general population or through <italic>BRCA1-</italic> and <italic>BRCA2-</italic>specific GWAS <xref rid="pgen.1004256-Antoniou2" ref-type="bibr">[5]</xref>–<xref rid="pgen.1004256-Antoniou5" ref-type="bibr">[8]</xref>. Cells harboring mutations in <italic>BRCA1</italic> or <italic>BRCA2</italic> show impaired homologous recombination (HR) <xref rid="pgen.1004256-Antoniou6" ref-type="bibr">[9]</xref>–<xref rid="pgen.1004256-Patel1" ref-type="bibr">[11]</xref> and are thus critically dependent on other members of the DNA repair machinery such as poly ADP ribose polymerase (PARP1) involved in the Base Excision Repair (BER) pathway. The BER pathway is crucial for the replacement of aberrant bases generated by different causes <xref rid="pgen.1004256-Xu1" ref-type="bibr">[12]</xref>. A deficiency in BER can give rise to a further accumulation of double-strand DNA breaks which, in the presence of a defective <italic>BRCA1</italic> or <italic>BRCA2</italic> background, could persist and lead to cell cycle arrest or cell death; this makes BRCA-deficient cells extremely sensitive to PARP inhibitors, as previously demonstrated <xref rid="pgen.1004256-Farmer1" ref-type="bibr">[13]</xref>. We hypothesize that SNPs in <italic>PARP1</italic> and other members of BER may be associated with cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. SNPs in <italic>XRCC1</italic>, one of the main components of BER, have been recently evaluated within the CIMBA consortium <xref rid="pgen.1004256-Osorio1" ref-type="bibr">[14]</xref>, however a comprehensive study has not yet been performed of either <italic>XRCC1</italic> or the other genes participating in BER.</p><p>In the present study, we used a tagging SNP approach to evaluate whether the common genetic variation in the genes involved in the BER pathway could be associated with cancer risk in a large series of <italic>BRCA1/</italic>2 mutation carriers using a two-stage approach. The first stage involved an analysis of 144 tag SNPs in 1,787 Spanish and Italian <italic>BRCA1/2</italic> mutation carriers. In stage II, the 36 SNPs showing the strongest evidence of association in stage I, were evaluated in a further 23,463 CIMBA mutation carriers included in the Collaborative Oncological Gene-environment Study (COGS) and genotyped using the iCOGS custom genotyping array.</p></sec><sec id="s2"><title>Results</title><sec id="s2a"><title>Breast cancer association</title><p>In stage I, 144 selected Tag SNPs covering the 18 selected BER genes were genotyped in 968 <italic>BRCA1</italic> and 819 <italic>BRCA2</italic> mutation carriers from five CIMBA centres (Spanish National Cancer ResearchCentre (CNIO), Hospital Clínico San Carlos (HCSC), Catalan Institute of Oncology (ICO), Demokritos and Milan Breast Cancer Study Group (MBCSG). Of those, 50 were excluded because of low call-rates, minor allele frequency (MAF)<0.05, evidence of deviation from Hardy Weinberg Equilibrium (p-value<10<sup>−3</sup>) or monomorphism. Associations with breast cancer risk were assessed for 94 SNPs, as summarized in <xref ref-type="supplementary-material" rid="pgen.1004256.s002">Table S1</xref>. The 36 SNPs that showed evidence of association at p≤0.05 were selected for analysis in stage II. Of the 36 SNPs successfully genotyped in the whole CIMBA series comprising 15,252 <italic>BRCA1</italic> and 8211 <italic>BRCA2</italic> mutation carriers, consistent evidence of association with breast cancer risk (p-trend<0.05) was observed for six SNPs (<xref ref-type="table" rid="pgen-1004256-t001">Table 1</xref>). The strongest evidence of association was observed for rs1466785 in the <italic>NEIL2</italic> gene (HR: 1.09, 95% CI (1.03–1.16), p = 2.7×10<sup>−3</sup>) for association with breast cancer risk in <italic>BRCA2</italic> mutation carriers. We had observed a consistent association in stage I in <italic>BRCA2</italic> mutation carriers (HR: 1.25, p = 0.06). The SNP was primarily associated with ER-negative breast cancer (HR: 1.20, 95%CI (1.06–1.37), p = 4×10<sup>−3</sup>), although the difference in HRs for ER-positive and ER-negative disease was not statistically significant. The evidence of association in Stage II was somewhat stronger when considering the genotype-specific models, with the dominant being the best fitting (HR: 1.20 95% CI: 1.09–1.37, p = 1×10<sup>−4</sup>). The associations remained significant and the estimated effect sizes remained consistent with the overall analysis when the data were reanalyzed excluding samples used in stage I of the study (data not shown). Imputation using the 1000 genomes data showed that there were several SNPs in strong linkage disequilibrium (LD) with rs1466785 showing more significant associations (p<10<sup>−3</sup>) (<xref ref-type="fig" rid="pgen-1004256-g001">Figure 1</xref>).</p><fig id="pgen-1004256-g001" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pgen.1004256.g001</object-id><label>Figure 1</label><caption><title>p-values of association (−log10 scale) with breast cancer risk in <italic>BRCA2</italic> carriers for genotyped and imputed SNPs in the <italic>NEIL2</italic> gene.</title><p>SNP rs1466785 is indicated with a purple arrow and the best causal imputed SNPs, rs804276 and rs804271 are indicated with a red arrow. Colors represent the pariwise r<sup>2</sup>. Plot generated with LocusZoom <xref rid="pgen.1004256-Pruim1" ref-type="bibr">[42]</xref> (<ext-link ext-link-type="uri" xlink:href="http://csg.sph.umich.edu/locuszoom/">http://csg.sph.umich.edu/locuszoom/</ext-link>).</p></caption><graphic xlink:href="pgen.1004256.g001"></graphic></fig><table-wrap id="pgen-1004256-t001" orientation="portrait" position="float"><object-id pub-id-type="doi">10.1371/journal.pgen.1004256.t001</object-id><label>Table 1</label><caption><title>Associations with breast and ovarian cancer risk for SNPs observed at p-trend<0.05 in stage II of the experiment.</title></caption><alternatives><graphic id="pgen-1004256-t001-1" xlink:href="pgen.1004256.t001"></graphic><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col></colgroup><thead><tr><td align="left" rowspan="1" colspan="1"><italic>BRCA1</italic> carriers</td><td align="left" rowspan="1" colspan="1">SNP name</td><td align="left" rowspan="1" colspan="1">Gene</td><td align="left" rowspan="1" colspan="1">Unaffected (Number)</td><td align="left" rowspan="1" colspan="1">Affected (Number)</td><td align="left" rowspan="1" colspan="1">Unaffected (MAF)</td><td align="left" rowspan="1" colspan="1">Affected (MAF)</td><td align="left" rowspan="1" colspan="1">HR per allele<xref ref-type="table-fn" rid="nt101">a</xref></td><td align="left" rowspan="1" colspan="1">HR heterozygote<xref ref-type="table-fn" rid="nt102">b</xref></td><td align="left" rowspan="1" colspan="1">HR homozygote<xref ref-type="table-fn" rid="nt102">b</xref></td><td align="left" rowspan="1" colspan="1">p-trend<xref ref-type="table-fn" rid="nt103">c</xref></td><td align="left" rowspan="1" colspan="1">p-het<xref ref-type="table-fn" rid="nt103">c</xref></td><td align="left" rowspan="1" colspan="1">p-hom<xref ref-type="table-fn" rid="nt103">c</xref></td></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1"><bold>Breast cancer</bold></td><td align="left" rowspan="1" colspan="1">rs3847954<xref ref-type="table-fn" rid="nt104">d</xref></td><td align="left" rowspan="1" colspan="1"><italic>UNG</italic></td><td align="left" rowspan="1" colspan="1">7455</td><td align="left" rowspan="1" colspan="1">7797</td><td align="left" rowspan="1" colspan="1">0.18</td><td align="left" rowspan="1" colspan="1">0.19</td><td align="left" rowspan="1" colspan="1">1.05 (1.00–1.11)</td><td align="left" rowspan="1" colspan="1">1.09 (1.02–1.16)</td><td align="left" rowspan="1" colspan="1">0.99 (0.84–1.16)</td><td align="left" rowspan="1" colspan="1">0.04</td><td align="left" rowspan="1" colspan="1">0.011</td><td align="left" rowspan="1" colspan="1">0.713</td></tr><tr><td align="left" rowspan="1" colspan="1"><bold>Ovarian cancer</bold></td><td align="left" rowspan="1" colspan="1">rs2072668</td><td align="left" rowspan="1" colspan="1"><italic>OGG1</italic></td><td align="left" rowspan="1" colspan="1">12786</td><td align="left" rowspan="1" colspan="1">2461</td><td align="left" rowspan="1" colspan="1">0.22</td><td align="left" rowspan="1" colspan="1">0.23</td><td align="left" rowspan="1" colspan="1">1.09 (1.01–1.18)</td><td align="left" rowspan="1" colspan="1">1.16 (1.05–1.27)</td><td align="left" rowspan="1" colspan="1">1.03 (0.82–1.28)</td><td align="left" rowspan="1" colspan="1">0.016</td><td align="left" rowspan="1" colspan="1">3×10<sup>−3</sup></td><td align="left" rowspan="1" colspan="1">0.77</td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">rs2269112</td><td align="left" rowspan="1" colspan="1"><italic>OGG1</italic></td><td align="left" rowspan="1" colspan="1">12789</td><td align="left" rowspan="1" colspan="1">2461</td><td align="left" rowspan="1" colspan="1">0.17</td><td align="left" rowspan="1" colspan="1">0.18</td><td align="left" rowspan="1" colspan="1">1.11 (1.02–1.21)</td><td align="left" rowspan="1" colspan="1">1.11 (1.01–1.23)</td><td align="left" rowspan="1" colspan="1">1.21 (0.92–1.58)</td><td align="left" rowspan="1" colspan="1">0.013</td><td align="left" rowspan="1" colspan="1">0.014</td><td align="left" rowspan="1" colspan="1">0.268</td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1"><bold>rs2304277</bold></td><td align="left" rowspan="1" colspan="1"><bold><italic>OGG1</italic></bold></td><td align="left" rowspan="1" colspan="1">12783</td><td align="left" rowspan="1" colspan="1">2462</td><td align="left" rowspan="1" colspan="1">0.2</td><td align="left" rowspan="1" colspan="1">0.21</td><td align="left" rowspan="1" colspan="1"><bold>1.12 (1.03–1.21)</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.19 (1.08–1.3)</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.01 (0.79–1.30)</bold></td><td align="left" rowspan="1" colspan="1"><bold>4.8×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>6×10<sup>−4</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>0.69</bold></td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">rs10161263</td><td align="left" rowspan="1" colspan="1"><italic>SMUG1</italic></td><td align="left" rowspan="1" colspan="1">12790</td><td align="left" rowspan="1" colspan="1">2462</td><td align="left" rowspan="1" colspan="1">0.34</td><td align="left" rowspan="1" colspan="1">0.32</td><td align="left" rowspan="1" colspan="1">0.92 (0.86–0.99)</td><td align="left" rowspan="1" colspan="1">0.88 (0.80–0.97)</td><td align="left" rowspan="1" colspan="1">0.90 (0.78–1.04)</td><td align="left" rowspan="1" colspan="1">0.024</td><td align="left" rowspan="1" colspan="1">9×10<sup>−3</sup></td><td align="left" rowspan="1" colspan="1">0.49</td></tr></tbody></table><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col><col align="center" span="1"></col></colgroup><thead><tr><td align="left" rowspan="1" colspan="1"><italic>BRCA2</italic> carriers</td><td align="left" rowspan="1" colspan="1">SNP name</td><td align="left" rowspan="1" colspan="1">Gene</td><td align="left" rowspan="1" colspan="1">Unaffected (Number)</td><td align="left" rowspan="1" colspan="1">Affected (Number)</td><td align="left" rowspan="1" colspan="1">Unaffected (MAF)</td><td align="left" rowspan="1" colspan="1">Affected (MAF)</td><td align="left" rowspan="1" colspan="1">HR per allele</td><td align="left" rowspan="1" colspan="1">HR heterozygote</td><td align="left" rowspan="1" colspan="1">HR homozygote</td><td align="left" rowspan="1" colspan="1">p-trend</td><td align="left" rowspan="1" colspan="1">p-het</td><td align="left" rowspan="1" colspan="1">p-hom</td></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1"><bold>Breast cancer</bold></td><td align="left" rowspan="1" colspan="1">rs2072668<xref ref-type="table-fn" rid="nt105">e</xref></td><td align="left" rowspan="1" colspan="1"><italic>OGG1</italic></td><td align="left" rowspan="1" colspan="1">3879</td><td align="left" rowspan="1" colspan="1">4328</td><td align="left" rowspan="1" colspan="1">0.23</td><td align="left" rowspan="1" colspan="1">0.21</td><td align="left" rowspan="1" colspan="1">0.91 (0.85–0.98)</td><td align="left" rowspan="1" colspan="1">0.95 (0.87–1.04)</td><td align="left" rowspan="1" colspan="1">0.75 (0.62–0.91)</td><td align="left" rowspan="1" colspan="1">0.018</td><td align="left" rowspan="1" colspan="1">0.098</td><td align="left" rowspan="1" colspan="1">7×10<sup>−3</sup></td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">rs2269112<xref ref-type="table-fn" rid="nt106">f</xref></td><td align="left" rowspan="1" colspan="1"><italic>OGG1</italic></td><td align="left" rowspan="1" colspan="1">3880</td><td align="left" rowspan="1" colspan="1">4329</td><td align="left" rowspan="1" colspan="1">0.17</td><td align="left" rowspan="1" colspan="1">0.16</td><td align="left" rowspan="1" colspan="1">0.91 (0.84–0.99)</td><td align="left" rowspan="1" colspan="1">0.93 (0.85–1.03)</td><td align="left" rowspan="1" colspan="1">0.76 (0.58–0.99)</td><td align="left" rowspan="1" colspan="1">0.035</td><td align="left" rowspan="1" colspan="1">0.083</td><td align="left" rowspan="1" colspan="1">0.054</td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">rs3136811<xref ref-type="table-fn" rid="nt107">g</xref></td><td align="left" rowspan="1" colspan="1"><italic>POLB</italic></td><td align="left" rowspan="1" colspan="1">3873</td><td align="left" rowspan="1" colspan="1">4321</td><td align="left" rowspan="1" colspan="1">0.06</td><td align="left" rowspan="1" colspan="1">0.07</td><td align="left" rowspan="1" colspan="1">1.12 (1.005–1.25)</td><td align="left" rowspan="1" colspan="1">1.17 (1.03–1.32)</td><td align="left" rowspan="1" colspan="1">0.86 (0.49–1.48)</td><td align="left" rowspan="1" colspan="1">0.032</td><td align="left" rowspan="1" colspan="1">0.019</td><td align="left" rowspan="1" colspan="1">0.715</td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1">rs2304277<xref ref-type="table-fn" rid="nt108">h</xref></td><td align="left" rowspan="1" colspan="1"><italic>OGG1</italic></td><td align="left" rowspan="1" colspan="1">3880</td><td align="left" rowspan="1" colspan="1">4330</td><td align="left" rowspan="1" colspan="1">0.21</td><td align="left" rowspan="1" colspan="1">0.19</td><td align="left" rowspan="1" colspan="1">0.91 (0.84–0.97)</td><td align="left" rowspan="1" colspan="1">0.94 (0.85–1.03)</td><td align="left" rowspan="1" colspan="1">0.74 (0.60–0.91)</td><td align="left" rowspan="1" colspan="1">0.013</td><td align="left" rowspan="1" colspan="1">0.058</td><td align="left" rowspan="1" colspan="1">0.01</td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1"><bold>rs1466785</bold><xref ref-type="table-fn" rid="nt109">i</xref></td><td align="left" rowspan="1" colspan="1"><bold><italic>NEIL2</italic></bold></td><td align="left" rowspan="1" colspan="1">3879</td><td align="left" rowspan="1" colspan="1">4330</td><td align="left" rowspan="1" colspan="1">0.4</td><td align="left" rowspan="1" colspan="1">0.43</td><td align="left" rowspan="1" colspan="1"><bold>1.09 (1.03–1.16)</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.20 (1.09–1.37)</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.16 (1.03–1.31)</bold></td><td align="left" rowspan="1" colspan="1"><bold>2.7×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>1×10<sup>−4</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>0.455</bold></td></tr><tr><td align="left" rowspan="1" colspan="1"><bold>Ovarian cancer</bold></td><td align="left" rowspan="1" colspan="1"><bold>rs167715</bold></td><td align="left" rowspan="1" colspan="1"><bold><italic>TDG</italic></bold></td><td align="left" rowspan="1" colspan="1">7577</td><td align="left" rowspan="1" colspan="1">631</td><td align="left" rowspan="1" colspan="1">0.12</td><td align="left" rowspan="1" colspan="1">0.09</td><td align="left" rowspan="1" colspan="1"><bold>0.76 (0.62–0.94)</bold></td><td align="left" rowspan="1" colspan="1"><bold>0.72 (0.58–0.90)</bold></td><td align="left" rowspan="1" colspan="1"><bold>0.89 (0.41–1.89)</bold></td><td align="left" rowspan="1" colspan="1"><bold>7.4×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>4.1×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>0.866</bold></td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1"><bold>rs3093926</bold><xref ref-type="table-fn" rid="nt110">j</xref></td><td align="left" rowspan="1" colspan="1"><bold><italic>PARP2</italic></bold></td><td align="left" rowspan="1" colspan="1">7580</td><td align="left" rowspan="1" colspan="1">631</td><td align="left" rowspan="1" colspan="1">0.07</td><td align="left" rowspan="1" colspan="1">0.05</td><td align="left" rowspan="1" colspan="1"><bold>0.64 (0.49–0.84)</bold></td><td align="left" rowspan="1" colspan="1"><bold>_</bold></td><td align="left" rowspan="1" colspan="1"><bold>_</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.5×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>_</bold></td><td align="left" rowspan="1" colspan="1"><bold>_</bold></td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1"><bold>rs4135087</bold></td><td align="left" rowspan="1" colspan="1"><bold><italic>TDG</italic></bold></td><td align="left" rowspan="1" colspan="1">7580</td><td align="left" rowspan="1" colspan="1">631</td><td align="left" rowspan="1" colspan="1">0.09</td><td align="left" rowspan="1" colspan="1">0.11</td><td align="left" rowspan="1" colspan="1"><bold>1.32 (1.09–1.59)</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.33 (1.07–1.65)</bold></td><td align="left" rowspan="1" colspan="1"><bold>1.67 (0.84–3.28)</bold></td><td align="left" rowspan="1" colspan="1"><bold>2.8×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>3.8×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>0.185</bold></td></tr><tr><td align="left" rowspan="1" colspan="1"></td><td align="left" rowspan="1" colspan="1"><bold>rs34259</bold></td><td align="left" rowspan="1" colspan="1"><bold><italic>UNG</italic></bold></td><td align="left" rowspan="1" colspan="1">7580</td><td align="left" rowspan="1" colspan="1">631</td><td align="left" rowspan="1" colspan="1">0.2</td><td align="left" rowspan="1" colspan="1">0.17</td><td align="left" rowspan="1" colspan="1"><bold>0.80 (0.69–0.94)</bold></td><td align="left" rowspan="1" colspan="1"><bold>0.84 (0.70–1.01)</bold></td><td align="left" rowspan="1" colspan="1"><bold>0.51 (0.29–0.90)</bold></td><td align="left" rowspan="1" colspan="1"><bold>7.6×10<sup>−3</sup></bold></td><td align="left" rowspan="1" colspan="1"><bold>0.025</bold></td><td align="left" rowspan="1" colspan="1"><bold>0.028</bold></td></tr></tbody></table></alternatives><table-wrap-foot><fn id="nt101"><label>a</label><p>Hazard Ratio per allele (1 df) estimated from the retrospective likelihood analysis.</p></fn><fn id="nt102"><label>b</label><p>Hazard Ratio under the genotype specific models (2df) estimated from the retrospective likelihood analysis.</p></fn><fn id="nt103"><label>c</label><p>p-values were based on the score test.</p></fn><fn id="nt104"><label>d</label><p>HR per allele of 1.69 and p-trend of 1×10<sup>−4</sup> for <italic>BRCA2</italic> mutation carriers in stage I of the study.</p></fn><fn id="nt105"><label>e</label><p>HR per allele of 1.43 and p-trend of 0.01 for <italic>BRCA1</italic> mutation carriers in stage I of the study.</p></fn><fn id="nt106"><label>f</label><p>HR per allele of 1.30 and p-trend of 0.03 for <italic>BRCA1</italic> mutation carriers in stage I of the study.</p></fn><fn id="nt107"><label>g</label><p>HR per allele of 0.64 and p-trend of 0.057 for <italic>BRCA2</italic> mutation carriers in stage I of the study.</p></fn><fn id="nt108"><label>h</label><p>HR per allele of 1.25 and p-trend of 0.04 for <italic>BRCA1</italic> mutation carriers in stage I of the study.</p></fn><fn id="nt109"><label>i</label><p>HR per allele of 1.25 and p-trend of 0.058 for <italic>BRCA2</italic> mutation carriers in stage I of the study.</p></fn><fn id="nt110"><label>j</label><p>rs3093926 did not yield results under the genotype specific model due to the low minor allele frequency.</p></fn><fn id="nt111"><label></label><p>Complete description of results from stage I are included in Supplementary <xref ref-type="supplementary-material" rid="pgen.1004256.s002">Table S1</xref>.</p></fn><fn id="nt112"><label></label><p>Highlighted in bold are those SNPs showing strongest associations with breast or ovarian cancer risk (p<0.01).</p></fn></table-wrap-foot></table-wrap></sec><sec id="s2b"><title>Ovarian cancer association</title><p>Due to lack of power we did not perform analysis of associations with ovarian cancer in stage I. However, we performed this analysis for the 36 SNPs tested in stage II. Although they had been selected based on their evidence of association with breast cancer risk, under the initial hypothesis they are also plausible modifiers of ovarian cancer risk for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers. We found four SNPs associated with ovarian cancer risk with a p-trend<0.01 in <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation carriers (<xref ref-type="table" rid="pgen-1004256-t001">Table 1</xref>). The strongest association was found for rs2304277 in <italic>OGG1</italic> in <italic>BRCA1</italic> mutation carriers (HR: 1.12, 95%CI: 1.03–1.21, p = 4.8×10<sup>−3</sup>). The association was somewhat stronger under the dominant model (HR: 1.19, 95%CI: 1.08–1.3, p = 6×10<sup>−4</sup>). Although three other SNPs were found to be associated with ovarian cancer risk in <italic>BRCA2</italic> mutation carriers (p-trend<10<sup>−3</sup>), these results were based on a relatively small number of ovarian cancer cases. Imputed data did not show any SNPs with substantially more significant associations with ovarian cancer risk except for rs3093926 in <italic>PARP2</italic>, associated with ovarian cancer risk in <italic>BRCA2</italic> mutation carriers for which there was a SNP, rs61995542, with a stronger association (HR: 0.67, p = 4.6×10<sup>−4</sup>) (<xref ref-type="supplementary-material" rid="pgen.1004256.s001">Figure S1</xref>).</p></sec></sec><sec id="s3"><title>Discussion</title><p>Based on the interaction of synthetic lethality that has been described between <italic>PARP1</italic> and both <italic>BRCA1</italic> and <italic>BRCA2</italic>, we hypothesize that this and other genes involved in the BER pathway could potentially be associated with cancer risk in <italic>BRCA1/2</italic> mutation carriers. Several studies have recently investigated the association of some of the BER genes with breast cancer, however, no definitive conclusions can be drawn, given that some publications suggest that SNPs in these genes can be associated with breast cancer risk with marginal p-values while others rule out a major role of these genes in the disease <xref rid="pgen.1004256-Zhang1" ref-type="bibr">[15]</xref>–<xref rid="pgen.1004256-Zipprich2" ref-type="bibr">[21]</xref>. There is only one study from the CIMBA consortium which has evaluated the role of three of the most studied SNPs in the <italic>XRCC1</italic> gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487), ruling out associations of these variants with cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers <xref rid="pgen.1004256-Osorio1" ref-type="bibr">[14]</xref>. However, a comprehensive analysis of neither <italic>XRCC1</italic> nor the other genes involved in the pathway in the context of BRCA mutation carriers has been performed. In the present study we have assessed the common genetic variation of 18 genes participating in BER by using a two stage strategy.</p><p>Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in stage II of the experiment (<xref ref-type="table" rid="pgen-1004256-t001">Table 1</xref>). Of those, six showed a p-trend value<0.01 and were therefore considered the best candidates for further evaluation. Only one of those six, rs1466785 in the <italic>NEIL2</italic> gene (endonuclease VIII-like 2) showed an association with breast cancer risk while the other five, rs2304277 in <italic>OGG1</italic> (8-guanine DNA glycosylase), rs167715 and rs4135087 in <italic>TDG</italic> (thymine-DNA glycosylase), rs3093926 in <italic>PARP2</italic> (Poly(ADP-ribose) polymerase 2) and rs34259 in <italic>UNG</italic> (uracil-DNA glycosylase) were associated with ovarian cancer risk.</p><p>The minor allele of <italic>NEIL2-</italic>rs1466785 was associated with increased breast cancer risk in <italic>BRCA2</italic> mutation carriers; moreover, when considering the genotype-specific risks observed that the best fitting model was the dominant one. <italic>NEIL2</italic> is one of the oxidized base-specific DNA glycosylases that participate in the initial steps of BER and specifically removes oxidized bases from transcribing genes <xref rid="pgen.1004256-Banerjee1" ref-type="bibr">[22]</xref>. By imputing using the 1000 genome data we found six correlated SNPs in strong LD with rs1466785 (r<sup>2</sup>>0.8), located closer or inside the gene and showing slightly stronger and more significant associations with the disease and therefore being better candidate causal variants. From those, we considered rs804276 and rs804271 as the best candidates given that they showed the most significant associations (p = 6×10<sup>−4</sup> and p = 8×10<sup>−4</sup> respectively) and there were available epidemiological or functional data supporting their putative role in cancer. SNP rs804276 has been associated with disease recurrence in patients with bladder cancer treated with Bacillus Calmette-Guérin (BCG) (HR: 2.71, 95%CI (1.75–4.20), p = 9×10<sup>−6</sup>) <xref rid="pgen.1004256-Wei1" ref-type="bibr">[23]</xref>. SNP rs804271 is located in a positive regulatory region in the promoter of the gene, between two potential cis- binding sites for reactive oxygen species responsive transcription factors in which sequence variation has been proven to alter the transcriptional response to oxidative stress <xref rid="pgen.1004256-Kinslow1" ref-type="bibr">[24]</xref>. Moreover, this SNP has been proposed to partly explain the inter-individual variability observed in <italic>NEIL2</italic> expression levels in the general population and has been proposed as a potential risk modifier of disease susceptibility <xref rid="pgen.1004256-Kinslow2" ref-type="bibr">[25]</xref>.</p><p>Several studies have been published showing associations between SNPs in <italic>NEIL2</italic> and lung or oropharyngeal cancer risk <xref rid="pgen.1004256-Dey1" ref-type="bibr">[26]</xref>, <xref rid="pgen.1004256-Zhai1" ref-type="bibr">[27]</xref> but to our knowledge, no association with breast cancer risk has been reported. We hypothesize that the potential association observed in the present study could be explained by the interaction between <italic>NEIL2</italic> and <italic>BRCA2</italic>, each of them causing a deficiency in the BER and HR DNA repair pathways, respectively. This would explain why the breast cancer risk modification due to rs1466785 would only be detected in the context of <italic>BRCA2</italic> mutation carriers and not in the general population.</p><p>The strongest evidence of association found in <italic>BRCA1</italic> carriers was between rs2304277 in the <italic>OGG1</italic> gene and ovarian cancer risk. The association was more significant when considering the dominant model. <italic>OGG1</italic> removes 8-oxodeoxyguanosine which is generated by oxidative stress and is highly mutagenic, and it has been suggested that SNPs in the gene could be associated with cancer risk <xref rid="pgen.1004256-Arcand1" ref-type="bibr">[28]</xref>–<xref rid="pgen.1004256-Xie1" ref-type="bibr">[31]</xref>. This is an interesting result, given that to date only one SNP, rs4691139 in the 4q35.3 region, also identified through the iCOGS effort, has been found to modify ovarian cancer risk specifically in <italic>BRCA1</italic> carriers <xref rid="pgen.1004256-Couch1" ref-type="bibr">[32]</xref>. SNP rs2304277 is located in the 3′UTR (untranslated region) of the gene and is probably not the causal variant, however, in this case imputations through the 1000 Genome did not show better results for a more plausible causal SNP.</p><p>We have identified four SNPs associated with ovarian cancer risk in <italic>BRCA2</italic> mutation carriers, rs167715 and rs4135087 in the <italic>TDG</italic> gene, rs34259 in the <italic>UNG</italic> gene and rs3093926 in <italic>PARP2</italic>. However, these last results should be interpreted with caution given that the number of <italic>BRCA2</italic> carriers affected with ovarian cancer is four-fold lower than for <italic>BRCA1</italic> carriers and the statistical power was therefore more limited, increasing the possibility of false-positives. In the case of <italic>PARP2</italic>, imputed data showed a lower p-value of association (4×10<sup>−4</sup>) for another SNP, rs61995542, that had a slightly higher MAF than rs3093926 (0.074 vs. 0.067) (<xref ref-type="supplementary-material" rid="pgen.1004256.s001">Figure S1</xref>). However, it must still be interpreted with caution due to small number of ovarian cancer cases in the <italic>BRCA2</italic> group.</p><p>It is worth noting that, four of the five genes for which strongest evidence of association was observed, are all DNA glycosylases participating in the initiation of BER by removing damaged or mismatched bases. Apart from the already mentioned <italic>NEIL2</italic> and <italic>OGG1</italic>, <italic>TDG</italic> initiates repair of G/T and G/U mismatches commonly associated with CpG islands, while <italic>UNG</italic> removes uracil in DNA resulting from deamination of cytosine or replicative incorporation of dUMP. We have not found strong associations with SNPs in genes involved in any other parts of the pathway, such as strand incision, trimming of ends, gap filling or ligation. It has been suggested that at least in the case of uracil repair, base removal is the major rate-limiting step of BER <xref rid="pgen.1004256-Visnes1" ref-type="bibr">[33]</xref>. This is consistent with our findings, suggesting that SNPs causing impairment in the function of these specific DNA glycosylases could give rise to accumulation of single strand breaks and subsequently DNA double strand breaks that, in the HR defective context of <italic>BRCA1/2</italic> mutation carriers would increase breast and ovarian cancer risk.</p><p>The fact that the SNPs tested are located in genes participating in the same DNA repair pathway as PARP1, make them especially interesting, not only as risk modifiers but also because they could have an impact on patients' response to treatment with PARP inhibitors. <italic>BRCA1/2</italic> mutation carriers harboring a potential modifier SNP in DNA glycosylases could be even more sensitive to PARPi due to a constitutional slight impairment of the BER activity. This is a hypothesis that should be confirmed in further studies. The design of this study in two stages, the hypothesis-based approach adopted to select genes, and that it is based on the largest possible series of <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers available nowadays, mean that the results obtained are quite solid However, the study still has some limitations such as the possible existence of residual confounding due to environmental risk factors for which we did not have information.</p><p>In summary, we have identified at least two SNPs, rs1466785 and rs2304277, in the DNA glycolylases <italic>NEIL2</italic> and <italic>OGG1</italic>, potentially associated with increased breast and ovarian cancer risks in <italic>BRCA2</italic> and <italic>BRCA1</italic> mutation carriers, respectively. Our results suggest that glycosylases involved in the first steps of the BER pathway may be cancer risk modifiers in <italic>BRCA1/2</italic> mutation carriers and should be more comprehensively studied. If confirmed, these findings could have implications not only for risk assessment, but also for treatment of <italic>BRCA1/2</italic> mutation carriers with PARP inhibitors.</p></sec><sec sec-type="materials|methods" id="s4"><title>Materials and Methods</title><sec id="s4a"><title>Subjects</title><p>Eligible subjects were female carriers of deleterious mutations in <italic>BRCA1</italic> or <italic>BRCA2</italic> aged 18 years or older <xref rid="pgen.1004256-Antoniou3" ref-type="bibr">[6]</xref>. A total of 55 collaborating CIMBA studies contributed genotypes for the study. Numbers of samples included from each are provided in <xref ref-type="supplementary-material" rid="pgen.1004256.s003">Table S2</xref>. A total of 1,787 mutation carriers (968 with mutations in <italic>BRCA1</italic> and 819 with mutations in <italic>BRCA2</italic>) from the CNIO, HCSC, ICO, Demokritos and MBCSG were genotyped in the first stage of the study. Stage II included 23,463 CIMBA samples (15,252 with mutations in <italic>BRCA1</italic> and 8,211 with mutations in <italic>BRCA2</italic>). All carriers participated in clinical and/or research studies at the host institution under IRB-approved protocols.</p></sec><sec id="s4b"><title>Methods stage I</title><sec id="s4b1"><title>Selection and genotyping of SNPs</title><p>Eighteen genes (<italic>UNG</italic>, <italic>SMUG1</italic>, <italic>MBD4</italic>, <italic>TDG</italic>, <italic>OGG1</italic>, <italic>MUTYH</italic>, <italic>NTHL1</italic>, <italic>MPG</italic>, <italic>NEIL1</italic>, <italic>NEIL2</italic>, <italic>APEX1</italic>, <italic>APEX2</italic>, <italic>LIG3</italic>, <italic>XRCC1</italic>, <italic>PNKP</italic>, <italic>POLB</italic>, <italic>PARP1 and PARP2</italic>) involved in the BER pathway were selected, based on the information available at <ext-link ext-link-type="uri" xlink:href="http://www.cgal.icnet.uk/DNA_Repair_Genes.html">http://www.cgal.icnet.uk/DNA_Repair_Genes.html</ext-link> as at the 31<sup>st</sup> December, 2009. Tag SNPs for the selected genes were defined using Haploview v.4.0 (<ext-link ext-link-type="uri" xlink:href="http://www.broad.mit.edu/mpg/haploview">http://www.broad.mit.edu/mpg/haploview</ext-link>) with an r<sup>2</sup> threshold of 0.8 and a minimum minor allele frequency of 0.05. In addition, SNPs with potentially functional effects already described in the literature were selected. A final number of 144 SNPs was included in an oligonucleotide pool assay for genotyping using the Illumina Veracode technology (Illumina Inc., San Diego, CA). Three hundred nanograms of DNA from each sample were genotyped using the GoldenGate Genotyping Assay with Veracode technology according to the published Illumina protocol. Genotype clustering and calling were carried out using the GenomeStudio software. SNPs with a call rate <0.95 were excluded from further analysis. Duplicate samples and CEPH trios (Coriell Cell Repository, Camden, NJ) were genotyped across the plates. SNPs showing Mendelian allele-transmission errors or showing discordant genotypes across duplicates were excluded.</p></sec><sec id="s4b2"><title>Statistical analysis</title><p>To test for departure from Hardy-Weinberg equilibrium (HWE), a single individual was randomly selected from each family and Pearson's X<sup>2</sup> Test (1df) was applied to genotypes from this set of individuals. The association of the SNPs with breast cancer risk was assessed by estimating hazard ratios (HR) and their corresponding 95% confidence intervals (CI) using weighted multivariable Cox proportional hazards regression with robust estimates of variance <xref rid="pgen.1004256-Antoniou7" ref-type="bibr">[34]</xref>. For each mutation carrier, we modeled the time to diagnosis of breast cancer from birth, censoring at the first of the following events: bilateral prophylactic mastectomy, breast cancer diagnosis, ovarian cancer diagnosis, death or date last know to be alive. Subjects were considered affected if their age at censoring corresponded to their age at diagnosis of breast cancer and unaffected otherwise. Weights were assigned separately for carriers of mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic>, by age and affection status, so that the weighted observed incidences in the sample agreed with established estimates for mutation carriers <xref rid="pgen.1004256-Antoniou1" ref-type="bibr">[1]</xref>; <xref rid="pgen.1004256-Antoniou7" ref-type="bibr">[34]</xref>.</p><p>We considered log-additive and co-dominant genetic models and tested for departure from HR = 1 by applying a Wald test based on the log-HR estimate and its standard error. Additional independent variables included in all analyses were year of study, centre and country. All statistical analyses were carried out using Stata: Release 10 (StataCorp. 2007. Stata Statistical Software: Release 10.0. College Station, TX: Stata Corporation LP). Robust estimates of variance were calculated using the <italic>cluster</italic> subcommand, applied to an identifier variable unique to each family.</p></sec></sec><sec id="s4c"><title>Methods stage II</title><sec id="s4c1"><title>iCOGS SNP array</title><p>Stage II of the experiment was performed as part of the iCOGS genotyping experiment. The iCOGS custom array was designed in collaboration between the Breast Cancer Association Consortium (BCAC), the Ovarian Cancer Association Consortium (OCAC), the Prostate Cancer Association Group to Investigate Cancer Associated in the Genome (PRACTICAL) and CIMBA. The final design comprised 211,155 successfully manufactured SNPs of which approximately 17.5% had been proposed by CIMBA. A total of 43 SNPs were nominated for inclusion on iCOGS based on statistical evidence of association in stage I of the present study (p≤0.05). Of these, 36 were successfully manufactured and genotyped in CIMBA mutation carriers.</p></sec><sec id="s4c2"><title>iCOGS genotyping and quality control</title><p>Genotyping was performed at Mayo Clinic and the McGill University and Génome Québec Innovation Centre (Montreal, Canada). Genotypes were called using Illumina's GenCall algorithm. Sample and quality control process have been described in detail elsewhere <xref rid="pgen.1004256-Couch1" ref-type="bibr">[32]</xref>, <xref rid="pgen.1004256-Gaudet1" ref-type="bibr">[35]</xref>. After the quality control process a total of 23,463 carriers were genotyped for the 36 selected SNPs.</p></sec><sec id="s4c3"><title>Statistical analysis</title><p>Both breast and ovarian cancer associations were evaluated in stage II. Censoring for breast cancer followed the same approach as in stage I. Censoring for ovarian cancer risk occurred at risk-reducing salpingo-oophorectomy or last follow-up.</p><p>The genotype-disease associations were evaluated within a survival analysis framework, by modelling the retrospective likelihood of the observed genotypes conditional on the disease phenotypes <xref rid="pgen.1004256-Antoniou6" ref-type="bibr">[9]</xref>, <xref rid="pgen.1004256-Antoniou7" ref-type="bibr">[34]</xref>, <xref rid="pgen.1004256-Barnes1" ref-type="bibr">[36]</xref>, <xref rid="pgen.1004256-Barnes2" ref-type="bibr">[37]</xref>. The associations between genotype and breast or ovarian cancer risk were assessed using the 1 d.f. score test statistic based on this retrospective likelihood. To allow for the non-independence among related individuals, we accounted for the correlation between the genotypes by estimating the kinship coefficient for each pair of individuals using the available genomic data <xref rid="pgen.1004256-Antoniou7" ref-type="bibr">[34]</xref>, <xref rid="pgen.1004256-Amin1" ref-type="bibr">[38]</xref>, <xref rid="pgen.1004256-Leutenegger1" ref-type="bibr">[39]</xref>. These analyses were performed in R using the GenABELlibraries and custom-written functions in FORTRAN and Python.</p><p>To estimate the magnitude of the associations (HRs), the effect of each SNP was modeled either as a per-allele HR (multiplicative model) or as genotype-specific HRs, and was estimated on the log-scale by maximizing the retrospective likelihood. The retrospective likelihood was fitted using the pedigree-analysis software MENDEL. The variances of the parameter estimates were obtained by robust variance estimation based on reported family membership. All analyses were stratified by country of residence and based on calendar-year and cohort-specific breast cancer incidence rates for mutation carriers. Countries with small number of mutation carriers were combined with neighbouring countries to ensure sufficiently large numbers within each stratum. USA and Canada were further stratified by reported Ashkenazi Jewish (AJ) ancestry.</p></sec><sec id="s4c4"><title>Imputation</title><p>Genotypes were imputed separately for <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers using the v3 April 2012 release (Genomes Project et al., 2012) as reference panel. To improve computation efficiency we used a two-step procedure which involved pre-phasing in the first step and imputation of the phased data in the second. Pre-phasing was carried out using the SHAPEIT software <xref rid="pgen.1004256-Delaneau1" ref-type="bibr">[40]</xref>. The IMPUTE version 2 software was used for the subsequent imputation <xref rid="pgen.1004256-Howie1" ref-type="bibr">[41]</xref>. SNPs were excluded from the association analysis if their imputation accuracy was r2<0.3 or MAF<0.005 in any of the data sets. For the final analysis we only took in account those SNPs with an imputation accuracy r2>0.7, MAF>0.01 and being located in the region comprised within 15 kilo bases (kb) downstream and upstream the gene where the genotyped SNP showing an association was located (<xref ref-type="table" rid="pgen-1004256-t001">Table 1</xref>). Associations between imputed genotypes and breast cancer risk were evaluated using a version of the score test as described above but with the posterior genotype probabilities replacing the genotypes.</p></sec></sec></sec><sec sec-type="supplementary-material" id="s5"><title>Supporting Information</title><supplementary-material content-type="local-data" id="pgen.1004256.s001"><label>Figure S1</label><caption><p>p-values of association (−log10 scale) with breast and ovarian cancer risk in <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers for genotyped and imputed SNPs considering 15 kb upstream and downstream the genes in which SNPs described in <xref ref-type="table" rid="pgen-1004256-t001">Table 1</xref> were located. rs numbers of SNPs from <xref ref-type="table" rid="pgen-1004256-t001">Table 1</xref> are indicated at the top of each panel and in the graph with a purple arrow. For <italic>PARP2</italic> gene, the imputed SNP with the strongest association, rs61995542 is indicated with a red arrow. Colors represent the pariwise r<sup>2</sup>.</p><p>(PPT)</p></caption><media xlink:href="pgen.1004256.s001.ppt"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pgen.1004256.s002"><label>Table S1</label><caption><p>Association with breast cancer for the 94 SNPs selected for analysis in stage I.</p><p>(XLS)</p></caption><media xlink:href="pgen.1004256.s002.xls"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="pgen.1004256.s003"><label>Table S2</label><caption><p>number of <italic>BRCA1</italic> and <italic>BRCA2</italic> carriers by study.</p><p>(XLS)</p></caption><media xlink:href="pgen.1004256.s003.xls"><caption><p>Click here for additional data file.</p></caption></media></supplementary-material></sec></body><back><ack><p>CNIO acknowledgments: Genotyping was provided by ‘Centro Nacional de Genotipado - Instituto de Salud Carlos III’ (CeGen-ISCIII; <ext-link ext-link-type="uri" xlink:href="http://www.cegen.org">www.cegen.org</ext-link>).</p><p>COGS acknowledgments: this study would not have been possible without the contributions of the following: Per Hall (COGS); Douglas F. Easton (BCAC), Andrew Berchuck (OCAC), Rosalind A. Eeles, Douglas F. Easton, Ali Amin Al Olama, Zsofia Kote-Jarai (PRACTICAL), Georgia Chenevix-Trench, Antonis Antoniou, Fergus Couch and Ken Offit (CIMBA), Joe Dennis, Alison M. Dunning, Andrew Lee, and Ed Dicks (Cambridge), Javier Benitez, Anna Gonzalez-Neira and the staff of the CNIO genotyping unit, Jacques Simard and Daniel C. Tessier, Francois Bacot, Daniel Vincent, Sylvie LaBoissière and Frederic Robidoux and the staff of the McGill University and Génome Québec Innovation Centre, Stig E. Bojesen, Sune F. Nielsen, Borge G. Nordestgaard, and the staff of the Copenhagen DNA laboratory, and Julie M. Cunningham, Sharon A. Windebank, Christopher A. Hilker, Jeffret Meyer and the staff of Mayo Clinic Genotyping Core Facility.</p><p>Swedish Breast Cancer Study (SWE-BRCA): SWE-BRCA members are Ake Borg, Department of Oncology, Lund University, Lund. Anna Öfverholm, Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden. Anna von Wachenfeldt, Department of Oncology, Karolinska University Hospital, Stockholm, Sweden. Annelie Liljegren, Department of Oncology, Karolinska University Hospital, Stockholm, Sweden. Annika Lindblom, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Beatrice Melin, Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden. Brita Arver, Department of Oncology, Karolinska University Hospital, Stockholm, Sweden. Christina Edwinsdotter Ardnor, Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden. Gisela Barbany Bustinza, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Håkan Olsson, Department of Oncology, Lund University Hospital, Lund, Sweden. Hans Ehrencrona, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, and Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. Helena Jernström, Department of Oncology, Lund University, Lund, Sweden. Johanna Rantala, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Karin Henriksson, Oncologic Centre, Regional Tumour Registry, Lund University Hospital, Lund, Sweden. Katja Harbst, Department of Oncology, Lund University, Lund, Sweden. Margareta Nordling, Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden. Maria Soller, Department of Clinical Genetics. Lund University Hospital, Lund, Sweden. Marie Stenmark-Askmalm, Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden. Maritta Hellström Pigg, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala. Monica Emanuelsson, Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden. Niklas Loman, Department of Oncology, Lund University Hospital, Lund, Sweden. Per Karlsson, Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden. Richard Rosenquist, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden. Sigrun Liedgren, Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden, SWE-BRCA, Ulf Kristoffersson, Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. Zakaria Einbeigi, Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden.</p><p>The University of Chicago Center for Clinical Cancer Genetics and Global Health (UCHICAGO) wish to thank Cecilia Zvocec, Qun Niu, physicians, genetic counselors, research nurses and staff of the Cancer Risk Clinic for their contributions to this resource, and the many families who contribute to our program.</p><p>UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center: We would like to thank Ms. Salina Chan for her data management and the following genetic counselors for participant recruitment: Beth Crawford, Nicola Stewart, Julie Mak, and Kate Lamvik.</p><p>Baltic Familial Breast Ovarian Cancer Consortium (BFBOCC) study: we acknowledge Vilius Rudaitis, Laimonas Griškevičius, BFBOCC-LV acknowledge Drs. Janis Eglitis, Anna Krilova and Aivars Stengrevics.</p><p>BRCA-gene mutations and breast cancer in South African women (BMBSA) wish to thank the families who contribute to the BMBSA study.</p><p>Beckman Research Institute of the City of Hope (BRICOH) study: we wish to thank Greg Wilhoite, Linda Steele, and Marie Pinto for their work in participant enrollment and biospecimen and data management.</p><p>The City of Hope Clinical Genetics Community Research Network: we wish to thank the collaborating clinicians in the Clinical Cancer Genetics Community Research Network for patient recruitment and follow up; Kai Yang for masterful assistance with the database, and Hazel Mariveles for network coordination.</p><p>CONsorzio Studi ITaliani sui Tumori Ereditary Alla Mamella (CONSIT TEAM) acknowledgments: Monica Barile and Irene Feroce of the Istituto Europeo di Oncologia, Milan, Italy; Antonella Savarese and Aline Martayan of the Istituto Nazionale Tumori Regina Elena, Rome, Italy; Stefania Tommasi, Brunella Pilato and Rossana Lambo of the Istituto Nazionale Tumori “Giovanni Paolo II” - Bari, Italy and the personnnel of the Cogentech Cancer Genetic Test Laboratory, Milan, Italy.</p><p>Epidemiological study of BRCA1 & BRCA2 mutation carriers (EMBRACE): Douglas F. Easton is the PI of the study. EMBRACE Collaborating Centres are: Coordinating Centre, Cambridge: Susan Peock, Debra Frost, Steve D. Ellis, Elena Fineberg, Radka Platte. North of Scotland Regional Genetics Service, Aberdeen: Zosia Miedzybrodzka, Helen Gregory. Northern Ireland Regional Genetics Service, Belfast: Patrick Morrison, Lisa Jeffers. West Midlands Regional Clinical Genetics Service, Birmingham: Trevor Cole, Kai-ren Ong, Jonathan Hoffman. South West Regional Genetics Service, Bristol: Alan Donaldson, Margaret James. East Anglian Regional Genetics Service, Cambridge: Marc Tischkowitz, Joan Paterson, Amy Taylor. Medical Genetics Services for Wales, Cardiff: Alexandra Murray, Mark T. Rogers, Emma McCann. St James's Hospital, Dublin & National Centre for Medical Genetics, Dublin: M. John Kennedy, David Barton. South East of Scotland Regional Genetics Service, Edinburgh: Mary Porteous, Sarah Drummond. Peninsula Clinical Genetics Service, Exeter: Carole Brewer, Emma Kivuva, Anne Searle, Selina Goodman, Kathryn Hill. West of Scotland Regional Genetics Service, Glasgow: Rosemarie Davidson, Victoria Murday, Nicola Bradshaw, Lesley Snadden, Mark Longmuir, Catherine Watt, Sarah Gibson, Eshika Haque, Ed Tobias, Alexis Duncan. South East Thames Regional Genetics Service, Guy's Hospital London: Louise Izatt, Chris Jacobs, Caroline Langman. North West Thames Regional Genetics Service, Harrow: Huw Dorkins. Leicestershire Clinical Genetics Service, Leicester: Julian Barwell. Yorkshire Regional Genetics Service, Leeds: Julian Adlard, Gemma Serra-Feliu. Cheshire & Merseyside Clinical Genetics Service, Liverpool: Ian Ellis, Catherine Houghton. Manchester Regional Genetics Service, Manchester: D Gareth Evans, Fiona Lalloo, Jane Taylor. North East Thames Regional Genetics Service, NE Thames, London: Lucy Side, Alison Male, Cheryl Berlin. Nottingham Centre for Medical Genetics, Nottingham: Jacqueline Eason, Rebecca Collier. Northern Clinical Genetics Service, Newcastle: Fiona Douglas, Oonagh Claber, Irene Jobson. Oxford Regional Genetics Service, Oxford: Lisa Walker, Diane McLeod, Dorothy Halliday, Sarah Durell, Barbara Stayner. The Institute of Cancer Research and Royal Marsden NHS Foundation Trust: Ros Eeles, Susan Shanley, Nazneen Rahman, Richard Houlston, Elizabeth Bancroft, Elizabeth Page, Audrey Ardern-Jones, Kelly Kohut, Jennifer Wiggins, Elena Castro, Emma Killick, Sue Martin, Gillian Rea, Anjana Kulkarni. North Trent Clinical Genetics Service, Sheffield: Jackie Cook, Oliver Quarrell, Cathryn Bardsley. South West Thames Regional Genetics Service, London: Shirley Hodgson, Sheila Goff, Glen Brice, Lizzie Winchester, Charlotte Eddy, Vishakha Tripathi, Virginia Attard, Anna Lehmann. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton: Diana Eccles, Anneke Lucassen, Gillian Crawford, Donna McBride, Sarah Smalley. Medical Genetics Services for Wales, Cardiff thanks Alexandra Murray, Mark T. Rogers, Emma McCann. North West Thames Regional Genetics Service, Harrow thanks Huw Dorkins. Leicestershire Clinical Genetics Service, Leicester thanks Julian Barwell. Nottingham Centre for Medical Genetics, Nottingham thanks Jacqueline Eason, Rebecca Collier. North of Scotland Regional Genetics Service, Aberdeen thanks Zosia Miedzybrodzka, Helen Gregory.</p><p>Fox Chase Cancer Center (FCCC study): we thank Ms. JoEllen Weaver and Dr. Betsy Bove for their technical support.</p><p>The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC): we are very thankful to all family members who participated in this study, Wolfram Heinritz, Center Leipzig, and Dieter Schäfer, Center Frankfurt, for providing DNA samples and Juliane Köhler for excellent technical assistance.</p><p>Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) study: National Cancer Genetics Network «UNICANCER Genetic Group», France. We wish to thank all the GEMO collaborating groups for their contribution to this study. GEMO Collaborating Centers are: Coordinating Centres, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, & Equipe «Génétique du cancer du sein», Centre de Recherche en Cancérologie de Lyon: Olga Sinilnikova, Sylvie Mazoyer, Francesca Damiola, Laure Barjhoux, Carole Verny-Pierre, Alain Calender, Sophie Giraud, Mélanie Léone; and Service de Génétique Oncologique, Institut Curie, Paris: Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Claude Houdayer, Virginie Moncoutier, Muriel Belotti, Carole Tirapo, Antoine de Pauw. Institut Gustave Roussy, Villejuif: Brigitte Bressac-de-Paillerets, Olivier Caron. Centre Jean Perrin, Clermont–Ferrand: Yves-Jean Bignon, Nancy Uhrhammer. Centre Léon Bérard, Lyon: Christine Lasset, Valérie Bonadona, Sandrine Handallou. Centre François Baclesse, Caen: Agnès Hardouin, Pascaline Berthet. Institut Paoli Calmettes, Marseille: Hagay Sobol, Violaine Bourdon, Tetsuro Noguchi, Audrey Remenieras, François Eisinger. CHU Arnaud-de-Villeneuve, Montpellier: Isabelle Coupier, Pascal Pujol. Centre Oscar Lambret, Lille: Jean-Philippe Peyrat, Joëlle Fournier, Françoise Révillion, Philippe Vennin, Claude Adenis. Hôpital René Huguenin/Institut Curie, St Cloud: Etienne Rouleau, Rosette Lidereau, Liliane Demange, Catherine Nogues. Centre Paul Strauss, Strasbourg: Danièle Muller, Jean-Pierre Fricker. Institut Bergonié, Bordeaux: Emmanuelle Barouk-Simonet, Françoise Bonnet, Virginie Bubien, Nicolas Sevenet, Michel Longy. Institut Claudius Regaud, Toulouse: Christine Toulas, Rosine Guimbaud, Laurence Gladieff, Viviane Feillel. CHU Grenoble: Dominique Leroux, Hélène Dreyfus, Christine Rebischung, Magalie Peysselon. CHU Dijon: Fanny Coron, Laurence Faivre. CHU St-Etienne: Fabienne Prieur, Marine Lebrun, Caroline Kientz. Hôtel Dieu Centre Hospitalier, Chambéry: Sandra Fert Ferrer. Centre Antoine Lacassagne, Nice: Marc Frénay. CHU Limoges: Laurence Vénat-Bouvet. CHU Nantes: Capucine Delnatte. CHU Bretonneau, Tours: Isabelle Mortemousque. Groupe Hospitalier Pitié-Salpétrière, Paris: Florence Coulet, Chrystelle Colas, Florent Soubrier. CHU Vandoeuvre-les-Nancy: Johanna Sokolowska, Myriam Bronner. CHU Besançon: Marie-Agnès Collonge-Rame, Alexandre Damette. Creighton University, Omaha, USA: Henry T. Lynch, Carrie L. Snyder.</p><p>G-FAST: we acknowledge the contribution of Kim De Leeneer and Anne De Paepe. We wish to thank the technical support of Ilse Coene en Brecht Crombez.</p><p>Hospital Clínico San Carlos (HCSC) study: we acknowledge Alicia Tosar for her technical assistance.</p><p>Helsinki Breast Cancer Study (HEBCS) would like to thank Drs. Kristiina Aittomäki, Carl Blomqvist and Kirsimari Aaltonen and Taru A. Muranen and RN Irja Erkkilä for their help with the HEBCS data and samples.</p><p>The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) consists of the following Collaborating Centers: Coordinating center: Netherlands Cancer Institute, Amsterdam, NL: M. A. Rookus, F. B. L. Hogervorst, F. E. van Leeuwen, S. Verhoef, M. K. Schmidt, J. L. de Lange; Erasmus Medical Center, Rotterdam, NL: J. M. Collée, A.M.W. van den Ouweland, M. J. Hooning, C. Seynaeve, C. H. M. van Deurzen, I. M. Obdeijn; Leiden University Medical Center, NL: C. J. van Asperen, J. T. Wijnen, R. A. E. M. Tollenaar, P. Devilee, T. C. T. E. F. van Cronenburg; Radboud University Nijmegen Medical Center, NL: C. M. Kets, A. R. Mensenkamp; University Medical Center Utrecht, NL: M. G. E. M. Ausems, R. B. van der Luijt; Amsterdam Medical Center, NL: C. M. Aalfs, T. A. M. van Os; VU University Medical Center, Amsterdam, NL: J. J. P. Gille, Q. Waisfisz, H. E. J. Meijers-Heijboer; University Hospital Maastricht, NL: E. B. Gómez-Garcia, M. J. Blok; University Medical Center Groningen, NL: J. C. Oosterwijk, A. H. van der Hout, M. J. Mourits, G. H. de Bock. The Netherlands Foundation for the detection of hereditary tumours, Leiden, NL: H. F. Vasen. Hungarian Breast and Ovarian Cancer Study: we wish to thank to Hungarian Breast and Ovarian Cancer Study Group members (Janos Papp, Tibor Vaszko, Aniko Bozsik, Judit Franko, Maria Balogh, Gabriella Domokos, Judit Ferenczi, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) and the clinicians and patients for their contributions to this study.</p><p>Interdisciplinary Health Research Internal Team Breast Cancer susceptibility (INHERIT): we would like to thank Dr Martine Dumont, Martine Tranchant for sample management and skillful technical assistance. 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