No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Identifieur interne : 001F19 ( Pmc/Corpus ); précédent : 001F18; suivant : 001F20No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Auteurs : Douglas F. Easton ; Fabienne Lesueur ; Brennan Decker ; Kyriaki Michailidou ; Jun Li ; Jamie Allen ; Craig Luccarini ; Karen A. Pooley ; Mitul Shah ; Manjeet K. Bolla ; Qin Wang ; Joe Dennis ; Jamil Ahmad ; Ella R. Thompson ; Francesca Damiola ; Maroulio Pertesi ; Catherine Voegele ; Noura Mebirouk ; Nivonirina Robinot ; Geoffroy Durand ; Nathalie Forey ; Robert N. Luben ; Shahana Ahmed ; Kristiina Aittom Ki ; Hoda Anton-Culver ; Volker Arndt ; Caroline Baynes ; Matthias W. Beckman ; Javier Benitez ; David Van Den Berg ; William J. Blot ; Natalia V. Bogdanova ; Stig E. Bojesen ; Hermann Brenner ; Jenny Chang-Claude ; Kee Seng Chia ; Ji-Yeob Choi ; Don M. Conroy ; Angela Cox ; Simon S. Cross ; Kamila Czene ; Hatef Darabi ; Peter Devilee ; Mikael Eriksson ; Peter A. Fasching ; Jonine Figueroa ; Henrik Flyger ; Florentia Fostira ; Montserrat García-Closas ; Graham G. Giles ; Gord Glendon ; Anna González-Neira ; Pascal Guénel ; Christopher A. Haiman ; Per Hall ; Steven N. Hart ; Mikael Hartman ; Maartje J. Hooning ; Chia-Ni Hsiung ; Hidemi Ito ; Anna Jakubowska ; Paul A. James ; Esther M. John ; Nichola Johnson ; Michael Jones ; Maria Kabisch ; Daehee Kang ; Veli-Matti Kosma ; Vessela Kristensen ; Diether Lambrechts ; Na Li ; Annika Lindblom ; Jirong Long ; Artitaya Lophatananon ; Jan Lubinski ; Arto Mannermaa ; Siranoush Manoukian ; Sara Margolin ; Keitaro Matsuo ; Alfons Meindl ; Gillian Mitchell ; Kenneth Muir ; Ines Nevelsteen ; Ans Van Den Ouweland ; Paolo Peterlongo ; Sze Yee Phuah ; Katri Pylk S ; Simone M. Rowley ; Suleeporn Sangrajrang ; Rita K. Schmutzler ; Chen-Yang Shen ; Xiao-Ou Shu ; Melissa C. Southey ; Harald Surowy ; Anthony Swerdlow ; Soo H. Teo ; Rob A E M. Tollenaar ; Ian Tomlinson ; Diana Torres ; Thérèse Truong ; Celine Vachon ; Senno Verhoef ; Michelle Wong-Brown ; Wei Zheng ; Ying Zheng ; Heli Nevanlinna ; Rodney J. Scott ; Irene L. Andrulis ; Anna H. Wu ; John L. Hopper ; Fergus J. Couch ; Robert Winqvist ; Barbara Burwinkel ; Elinor J. Sawyer ; Marjanka K. Schmidt ; Anja Rudolph ; Thilo Dörk ; Hiltrud Brauch ; Ute Hamann ; Susan L. Neuhausen ; Roger L. Milne ; Olivia Fletcher ; Paul D P. Pharoah ; Ian G. Campbell ; Alison M. Dunning ; Florence Le Calvez-Kelm ; David E. Goldgar ; Sean V. Tavtigian ; Georgia Chenevix-TrenchSource :
- Journal of medical genetics [ 0022-2593 ] ; 2016.
Abstract
BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in
We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of
The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).
These results suggest that truncating variants in
Url:
DOI: 10.1136/jmedgenet-2015-103529
PubMed: 26921362
PubMed Central: 4938802
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PMC:4938802Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">No evidence that protein truncating variants in <italic>BRIP1</italic> are associated with breast cancer risk: implications for gene panel testing</title><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="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="A3">Genetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Decker, Brennan" sort="Decker, Brennan" uniqKey="Decker B" first="Brennan" last="Decker">Brennan Decker</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Cancer Genetics and Comparative Genomics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</nlm:aff></affiliation></author><author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name><affiliation><nlm:aff id="A6">Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Allen, Jamie" sort="Allen, Jamie" uniqKey="Allen J" first="Jamie" last="Allen">Jamie Allen</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Luccarini, Craig" sort="Luccarini, Craig" uniqKey="Luccarini C" first="Craig" last="Luccarini">Craig Luccarini</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Pooley, Karen A" sort="Pooley, Karen A" uniqKey="Pooley K" first="Karen A" last="Pooley">Karen A. Pooley</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K" last="Bolla">Manjeet K. Bolla</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Thompson, Ella R" sort="Thompson, Ella R" uniqKey="Thompson E" first="Ella R" last="Thompson">Ella R. Thompson</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</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="A10">Genetic of Breast Cancer Team, Cancer Research Center of Lyon, Centre Léon Bérard, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Pertesi, Maroulio" sort="Pertesi, Maroulio" uniqKey="Pertesi M" first="Maroulio" last="Pertesi">Maroulio Pertesi</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Mebirouk, Noura" sort="Mebirouk, Noura" uniqKey="Mebirouk N" first="Noura" last="Mebirouk">Noura Mebirouk</name><affiliation><nlm:aff id="A3">Genetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Durand, Geoffroy" sort="Durand, Geoffroy" uniqKey="Durand G" first="Geoffroy" last="Durand">Geoffroy Durand</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Forey, Nathalie" sort="Forey, Nathalie" uniqKey="Forey N" first="Nathalie" last="Forey">Nathalie Forey</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Luben, Robert N" sort="Luben, Robert N" uniqKey="Luben R" first="Robert N" last="Luben">Robert N. Luben</name><affiliation><nlm:aff id="A11">Clinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Ahmed, Shahana" sort="Ahmed, Shahana" uniqKey="Ahmed S" first="Shahana" last="Ahmed">Shahana Ahmed</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="A12">Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation><nlm:aff id="A13">Department of Epidemiology, University of California Irvine, Irvine, California, USA</nlm:aff></affiliation></author><author><name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name><affiliation><nlm:aff id="A14">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Baynes, Caroline" sort="Baynes, Caroline" uniqKey="Baynes C" first="Caroline" last="Baynes">Caroline Baynes</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Beckman, Matthias W" sort="Beckman, Matthias W" uniqKey="Beckman M" first="Matthias W" last="Beckman">Matthias W. Beckman</name><affiliation><nlm:aff id="A16">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany</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="A17">Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain</nlm:aff></affiliation></author><author><name sortKey="Van Den Berg, David" sort="Van Den Berg, David" uniqKey="Van Den Berg D" first="David" last="Van Den Berg">David Van Den Berg</name><affiliation><nlm:aff id="A19">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Blot, William J" sort="Blot, William J" uniqKey="Blot W" first="William J" last="Blot">William J. Blot</name><affiliation><nlm:aff id="A20">International Epidemiology Institute, Rockville, Maryland, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Bogdanova, Natalia V" sort="Bogdanova, Natalia V" uniqKey="Bogdanova N" first="Natalia V" last="Bogdanova">Natalia V. Bogdanova</name><affiliation><nlm:aff id="A22">Department of Radiation Oncology, Hannover Medical School, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E" last="Bojesen">Stig E. Bojesen</name><affiliation><nlm:aff id="A23">Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A25">Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name><affiliation><nlm:aff id="A14">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A26">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name><affiliation><nlm:aff id="A28">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A29">University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Chia, Kee Seng" sort="Chia, Kee Seng" uniqKey="Chia K" first="Kee Seng" last="Chia">Kee Seng Chia</name><affiliation><nlm:aff id="A30">Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore</nlm:aff></affiliation></author><author><name sortKey="Choi, Ji Yeob" sort="Choi, Ji Yeob" uniqKey="Choi J" first="Ji-Yeob" last="Choi">Ji-Yeob Choi</name><affiliation><nlm:aff id="A31">Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation></author><author><name sortKey="Conroy, Don M" sort="Conroy, Don M" uniqKey="Conroy D" first="Don M" last="Conroy">Don M. Conroy</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name><affiliation><nlm:aff id="A33">Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Cross, Simon S" sort="Cross, Simon S" uniqKey="Cross S" first="Simon S" last="Cross">Simon S. Cross</name><affiliation><nlm:aff id="A34">Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</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="A36">Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A37">Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Eriksson, Mikael" sort="Eriksson, Mikael" uniqKey="Eriksson M" first="Mikael" last="Eriksson">Mikael Eriksson</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A" last="Fasching">Peter A. Fasching</name><affiliation><nlm:aff id="A16">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A38">David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Figueroa, Jonine" sort="Figueroa, Jonine" uniqKey="Figueroa J" first="Jonine" last="Figueroa">Jonine Figueroa</name><affiliation><nlm:aff id="A39">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A40">Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name><affiliation><nlm:aff id="A41">Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</nlm:aff></affiliation></author><author><name sortKey="Fostira, Florentia" sort="Fostira, Florentia" uniqKey="Fostira F" first="Florentia" last="Fostira">Florentia Fostira</name><affiliation><nlm:aff id="A42">Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Garcia Closas, Montserrat" sort="Garcia Closas, Montserrat" uniqKey="Garcia Closas M" first="Montserrat" last="García-Closas">Montserrat García-Closas</name><affiliation><nlm:aff id="A39">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G" last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="A43">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia</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="A45">Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Gonzalez Neira, Anna" sort="Gonzalez Neira, Anna" uniqKey="Gonzalez Neira A" first="Anna" last="González-Neira">Anna González-Neira</name><affiliation><nlm:aff id="A17">Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name><affiliation><nlm:aff id="A46">University Paris-Sud, UMRS 1018, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Haiman, Christopher A" sort="Haiman, Christopher A" uniqKey="Haiman C" first="Christopher A" last="Haiman">Christopher A. Haiman</name><affiliation><nlm:aff id="A19">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Hart, Steven N" sort="Hart, Steven N" uniqKey="Hart S" first="Steven N" last="Hart">Steven N. Hart</name><affiliation><nlm:aff id="A48">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name><affiliation><nlm:aff id="A30">Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore</nlm:aff></affiliation><affiliation><nlm:aff id="A49">Department of Surgery, National University Health System, Singapore, Singapore</nlm:aff></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J" last="Hooning">Maartje J. Hooning</name><affiliation><nlm:aff id="A50">Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hsiung, Chia Ni" sort="Hsiung, Chia Ni" uniqKey="Hsiung C" first="Chia-Ni" last="Hsiung">Chia-Ni Hsiung</name><affiliation><nlm:aff id="A51">Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Ito, Hidemi" sort="Ito, Hidemi" uniqKey="Ito H" first="Hidemi" last="Ito">Hidemi Ito</name><affiliation><nlm:aff id="A52">Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan</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="A53">Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="James, Paul A" sort="James, Paul A" uniqKey="James P" first="Paul A" last="James">Paul A. James</name><affiliation><nlm:aff id="A54">Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A55">Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia</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="A56">Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A57">Department of Health Research and Policy—Epidemiology, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A58">Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation></author><author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name><affiliation><nlm:aff id="A59">Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A60">Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Jones, Michael" sort="Jones, Michael" uniqKey="Jones M" first="Michael" last="Jones">Michael Jones</name><affiliation><nlm:aff id="A61">Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name><affiliation><nlm:aff id="A62">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name><affiliation><nlm:aff id="A31">Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation><affiliation><nlm:aff id="A63">Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University, Seoul, Korea</nlm:aff></affiliation></author><author><name sortKey="Kosma, Veli Matti" sort="Kosma, Veli Matti" uniqKey="Kosma V" first="Veli-Matti" last="Kosma">Veli-Matti Kosma</name><affiliation><nlm:aff id="A65">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A66">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A67">Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation></author><author><name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name><affiliation><nlm:aff id="A68">Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A69">Faculty of Medicine, K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A70">Department of Clinical Molecular Biology (EpiGen), University of Oslo (UiO), Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Lambrechts, Diether" sort="Lambrechts, Diether" uniqKey="Lambrechts D" first="Diether" last="Lambrechts">Diether Lambrechts</name><affiliation><nlm:aff id="A71">Vesalius Research Center, VIB, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A72">Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Li, Na" sort="Li, Na" uniqKey="Li N" first="Na" last="Li">Na Li</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A73">Cancer Biology Research Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China</nlm:aff></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><nlm:aff id="A74">Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Long, Jirong" sort="Long, Jirong" uniqKey="Long J" first="Jirong" last="Long">Jirong Long</name><affiliation><nlm:aff id="A21">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name><affiliation><nlm:aff id="A75">Division of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK</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="A53">Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name><affiliation><nlm:aff id="A65">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A66">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A67">Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland</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="A76">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name><affiliation><nlm:aff id="A77">Department of Oncology—Pathology, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name><affiliation><nlm:aff id="A78">Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan</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="A79">Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Gillian" sort="Mitchell, Gillian" uniqKey="Mitchell G" first="Gillian" last="Mitchell">Gillian Mitchell</name><affiliation><nlm:aff id="A9">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A55">Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name><affiliation><nlm:aff id="A75">Division of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A80">Institute of Population Health, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Nevelsteen, Ines" sort="Nevelsteen, Ines" uniqKey="Nevelsteen I" first="Ines" last="Nevelsteen">Ines Nevelsteen</name><affiliation><nlm:aff id="A82">University Hospital Gashuisberg, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans" sort="Van Den Ouweland, Ans" uniqKey="Van Den Ouweland A" first="Ans" last="Van Den Ouweland">Ans Van Den Ouweland</name><affiliation><nlm:aff id="A83">Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands</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="A84">IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Phuah, Sze Yee" sort="Phuah, Sze Yee" uniqKey="Phuah S" first="Sze Yee" last="Phuah">Sze Yee Phuah</name><affiliation><nlm:aff id="A85">Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia</nlm:aff></affiliation><affiliation><nlm:aff id="A86">Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Pylk S, Katri" sort="Pylk S, Katri" uniqKey="Pylk S K" first="Katri" last="Pylk S">Katri Pylk S</name><affiliation><nlm:aff id="A87">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A88">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland</nlm:aff></affiliation></author><author><name sortKey="Rowley, Simone M" sort="Rowley, Simone M" uniqKey="Rowley S" first="Simone M" last="Rowley">Simone M. Rowley</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name><affiliation><nlm:aff id="A89">National Cancer Institute, Bangkok, Thailand</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K" last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="A90">Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A91">Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Center for Molecular Medicine Cologne (CMMC), University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name><affiliation><nlm:aff id="A93">School of Public Health, China Medical University, Taichung, Taiwan</nlm:aff></affiliation><affiliation><nlm:aff id="A94">Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Shu, Xiao Ou" sort="Shu, Xiao Ou" uniqKey="Shu X" first="Xiao-Ou" last="Shu">Xiao-Ou Shu</name><affiliation><nlm:aff id="A95">Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="A54">Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name><affiliation><nlm:aff id="A96">Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A97">Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name><affiliation><nlm:aff id="A60">Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A61">Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Teo, Soo H" sort="Teo, Soo H" uniqKey="Teo S" first="Soo H" last="Teo">Soo H. Teo</name><affiliation><nlm:aff id="A85">Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia</nlm:aff></affiliation><affiliation><nlm:aff id="A86">Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Tollenaar, Rob A E M" sort="Tollenaar, Rob A E M" uniqKey="Tollenaar R" first="Rob A E M" last="Tollenaar">Rob A E M. Tollenaar</name><affiliation><nlm:aff id="A98">Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name><affiliation><nlm:aff id="A99">Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Torres, Diana" sort="Torres, Diana" uniqKey="Torres D" first="Diana" last="Torres">Diana Torres</name><affiliation><nlm:aff id="A62">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A100">Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia</nlm:aff></affiliation></author><author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name><affiliation><nlm:aff id="A46">University Paris-Sud, UMRS 1018, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Vachon, Celine" sort="Vachon, Celine" uniqKey="Vachon C" first="Celine" last="Vachon">Celine Vachon</name><affiliation><nlm:aff id="A48">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Verhoef, Senno" sort="Verhoef, Senno" uniqKey="Verhoef S" first="Senno" last="Verhoef">Senno Verhoef</name><affiliation><nlm:aff id="A101">Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wong Brown, Michelle" sort="Wong Brown, Michelle" uniqKey="Wong Brown M" first="Michelle" last="Wong-Brown">Michelle Wong-Brown</name><affiliation><nlm:aff id="A102">Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name><affiliation><nlm:aff id="A21">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Zheng, Ying" sort="Zheng, Ying" uniqKey="Zheng Y" first="Ying" last="Zheng">Ying Zheng</name><affiliation><nlm:aff id="A103">Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China</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="A104">Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Scott, Rodney J" sort="Scott, Rodney J" uniqKey="Scott R" first="Rodney J" last="Scott">Rodney J. Scott</name><affiliation><nlm:aff id="A102">Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A105">Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L" last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="A45">Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A106">Department of Molecular Genetics, University of Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Wu, Anna H" sort="Wu, Anna H" uniqKey="Wu A" first="Anna H" last="Wu">Anna H. Wu</name><affiliation><nlm:aff id="A19">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="A107">Centre for Epidemiology and Biostatistics, University of Melbourne, Melbourne, Victoria, Australia</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="A108">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name><affiliation><nlm:aff id="A87">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A88">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland</nlm:aff></affiliation></author><author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name><affiliation><nlm:aff id="A96">Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A97">Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J" last="Sawyer">Elinor J. Sawyer</name><affiliation><nlm:aff id="A109">Research Oncology, Division of Cancer Studies, King’s College London, Guy’s Hospital, London, UK</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K" last="Schmidt">Marjanka K. Schmidt</name><affiliation><nlm:aff id="A101">Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name><affiliation><nlm:aff id="A28">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name><affiliation><nlm:aff id="A110">Gynaecology Research Unit, Hannover Medical School, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name><affiliation><nlm:aff id="A26">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A111">Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A112">University of Tübingen, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="A62">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</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="A113">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA</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="A43">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name><affiliation><nlm:aff id="A59">Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A60">Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D P" last="Pharoah">Paul D P. Pharoah</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Campbell, Ian G" sort="Campbell, Ian G" uniqKey="Campbell I" first="Ian G" last="Campbell">Ian G. Campbell</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A54">Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M" last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, Florence" sort="Le Calvez Kelm, Florence" uniqKey="Le Calvez Kelm F" first="Florence" last="Le Calvez-Kelm">Florence Le Calvez-Kelm</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A114">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A115">Cancer Control and Population Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name><affiliation><nlm:aff id="A116">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="A6">Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26921362</idno><idno type="pmc">4938802</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938802</idno><idno type="RBID">PMC:4938802</idno><idno type="doi">10.1136/jmedgenet-2015-103529</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001F19</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F19</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">No evidence that protein truncating variants in <italic>BRIP1</italic> are associated with breast cancer risk: implications for gene panel testing</title><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="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="A3">Genetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Decker, Brennan" sort="Decker, Brennan" uniqKey="Decker B" first="Brennan" last="Decker">Brennan Decker</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Cancer Genetics and Comparative Genomics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</nlm:aff></affiliation></author><author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name><affiliation><nlm:aff id="A6">Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Allen, Jamie" sort="Allen, Jamie" uniqKey="Allen J" first="Jamie" last="Allen">Jamie Allen</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Luccarini, Craig" sort="Luccarini, Craig" uniqKey="Luccarini C" first="Craig" last="Luccarini">Craig Luccarini</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Pooley, Karen A" sort="Pooley, Karen A" uniqKey="Pooley K" first="Karen A" last="Pooley">Karen A. Pooley</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K" last="Bolla">Manjeet K. Bolla</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Thompson, Ella R" sort="Thompson, Ella R" uniqKey="Thompson E" first="Ella R" last="Thompson">Ella R. Thompson</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</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="A10">Genetic of Breast Cancer Team, Cancer Research Center of Lyon, Centre Léon Bérard, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Pertesi, Maroulio" sort="Pertesi, Maroulio" uniqKey="Pertesi M" first="Maroulio" last="Pertesi">Maroulio Pertesi</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Mebirouk, Noura" sort="Mebirouk, Noura" uniqKey="Mebirouk N" first="Noura" last="Mebirouk">Noura Mebirouk</name><affiliation><nlm:aff id="A3">Genetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Durand, Geoffroy" sort="Durand, Geoffroy" uniqKey="Durand G" first="Geoffroy" last="Durand">Geoffroy Durand</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Forey, Nathalie" sort="Forey, Nathalie" uniqKey="Forey N" first="Nathalie" last="Forey">Nathalie Forey</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Luben, Robert N" sort="Luben, Robert N" uniqKey="Luben R" first="Robert N" last="Luben">Robert N. Luben</name><affiliation><nlm:aff id="A11">Clinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Ahmed, Shahana" sort="Ahmed, Shahana" uniqKey="Ahmed S" first="Shahana" last="Ahmed">Shahana Ahmed</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="A12">Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation><nlm:aff id="A13">Department of Epidemiology, University of California Irvine, Irvine, California, USA</nlm:aff></affiliation></author><author><name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name><affiliation><nlm:aff id="A14">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Baynes, Caroline" sort="Baynes, Caroline" uniqKey="Baynes C" first="Caroline" last="Baynes">Caroline Baynes</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Beckman, Matthias W" sort="Beckman, Matthias W" uniqKey="Beckman M" first="Matthias W" last="Beckman">Matthias W. Beckman</name><affiliation><nlm:aff id="A16">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany</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="A17">Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain</nlm:aff></affiliation></author><author><name sortKey="Van Den Berg, David" sort="Van Den Berg, David" uniqKey="Van Den Berg D" first="David" last="Van Den Berg">David Van Den Berg</name><affiliation><nlm:aff id="A19">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Blot, William J" sort="Blot, William J" uniqKey="Blot W" first="William J" last="Blot">William J. Blot</name><affiliation><nlm:aff id="A20">International Epidemiology Institute, Rockville, Maryland, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Bogdanova, Natalia V" sort="Bogdanova, Natalia V" uniqKey="Bogdanova N" first="Natalia V" last="Bogdanova">Natalia V. Bogdanova</name><affiliation><nlm:aff id="A22">Department of Radiation Oncology, Hannover Medical School, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E" last="Bojesen">Stig E. Bojesen</name><affiliation><nlm:aff id="A23">Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A25">Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name><affiliation><nlm:aff id="A14">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A26">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name><affiliation><nlm:aff id="A28">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A29">University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Chia, Kee Seng" sort="Chia, Kee Seng" uniqKey="Chia K" first="Kee Seng" last="Chia">Kee Seng Chia</name><affiliation><nlm:aff id="A30">Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore</nlm:aff></affiliation></author><author><name sortKey="Choi, Ji Yeob" sort="Choi, Ji Yeob" uniqKey="Choi J" first="Ji-Yeob" last="Choi">Ji-Yeob Choi</name><affiliation><nlm:aff id="A31">Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation></author><author><name sortKey="Conroy, Don M" sort="Conroy, Don M" uniqKey="Conroy D" first="Don M" last="Conroy">Don M. Conroy</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name><affiliation><nlm:aff id="A33">Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Cross, Simon S" sort="Cross, Simon S" uniqKey="Cross S" first="Simon S" last="Cross">Simon S. Cross</name><affiliation><nlm:aff id="A34">Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</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="A36">Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A37">Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Eriksson, Mikael" sort="Eriksson, Mikael" uniqKey="Eriksson M" first="Mikael" last="Eriksson">Mikael Eriksson</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A" last="Fasching">Peter A. Fasching</name><affiliation><nlm:aff id="A16">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A38">David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Figueroa, Jonine" sort="Figueroa, Jonine" uniqKey="Figueroa J" first="Jonine" last="Figueroa">Jonine Figueroa</name><affiliation><nlm:aff id="A39">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A40">Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name><affiliation><nlm:aff id="A41">Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</nlm:aff></affiliation></author><author><name sortKey="Fostira, Florentia" sort="Fostira, Florentia" uniqKey="Fostira F" first="Florentia" last="Fostira">Florentia Fostira</name><affiliation><nlm:aff id="A42">Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Athens, Greece</nlm:aff></affiliation></author><author><name sortKey="Garcia Closas, Montserrat" sort="Garcia Closas, Montserrat" uniqKey="Garcia Closas M" first="Montserrat" last="García-Closas">Montserrat García-Closas</name><affiliation><nlm:aff id="A39">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G" last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="A43">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia</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="A45">Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Gonzalez Neira, Anna" sort="Gonzalez Neira, Anna" uniqKey="Gonzalez Neira A" first="Anna" last="González-Neira">Anna González-Neira</name><affiliation><nlm:aff id="A17">Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name><affiliation><nlm:aff id="A46">University Paris-Sud, UMRS 1018, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Haiman, Christopher A" sort="Haiman, Christopher A" uniqKey="Haiman C" first="Christopher A" last="Haiman">Christopher A. Haiman</name><affiliation><nlm:aff id="A19">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name><affiliation><nlm:aff id="A35">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Hart, Steven N" sort="Hart, Steven N" uniqKey="Hart S" first="Steven N" last="Hart">Steven N. Hart</name><affiliation><nlm:aff id="A48">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name><affiliation><nlm:aff id="A30">Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore</nlm:aff></affiliation><affiliation><nlm:aff id="A49">Department of Surgery, National University Health System, Singapore, Singapore</nlm:aff></affiliation></author><author><name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J" last="Hooning">Maartje J. Hooning</name><affiliation><nlm:aff id="A50">Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hsiung, Chia Ni" sort="Hsiung, Chia Ni" uniqKey="Hsiung C" first="Chia-Ni" last="Hsiung">Chia-Ni Hsiung</name><affiliation><nlm:aff id="A51">Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Ito, Hidemi" sort="Ito, Hidemi" uniqKey="Ito H" first="Hidemi" last="Ito">Hidemi Ito</name><affiliation><nlm:aff id="A52">Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan</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="A53">Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="James, Paul A" sort="James, Paul A" uniqKey="James P" first="Paul A" last="James">Paul A. James</name><affiliation><nlm:aff id="A54">Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A55">Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia</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="A56">Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A57">Department of Health Research and Policy—Epidemiology, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A58">Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation></author><author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name><affiliation><nlm:aff id="A59">Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A60">Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Jones, Michael" sort="Jones, Michael" uniqKey="Jones M" first="Michael" last="Jones">Michael Jones</name><affiliation><nlm:aff id="A61">Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name><affiliation><nlm:aff id="A62">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name><affiliation><nlm:aff id="A31">Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea</nlm:aff></affiliation><affiliation><nlm:aff id="A63">Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University, Seoul, Korea</nlm:aff></affiliation></author><author><name sortKey="Kosma, Veli Matti" sort="Kosma, Veli Matti" uniqKey="Kosma V" first="Veli-Matti" last="Kosma">Veli-Matti Kosma</name><affiliation><nlm:aff id="A65">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A66">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A67">Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation></author><author><name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name><affiliation><nlm:aff id="A68">Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A69">Faculty of Medicine, K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A70">Department of Clinical Molecular Biology (EpiGen), University of Oslo (UiO), Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Lambrechts, Diether" sort="Lambrechts, Diether" uniqKey="Lambrechts D" first="Diether" last="Lambrechts">Diether Lambrechts</name><affiliation><nlm:aff id="A71">Vesalius Research Center, VIB, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A72">Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Li, Na" sort="Li, Na" uniqKey="Li N" first="Na" last="Li">Na Li</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A73">Cancer Biology Research Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China</nlm:aff></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><nlm:aff id="A74">Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Long, Jirong" sort="Long, Jirong" uniqKey="Long J" first="Jirong" last="Long">Jirong Long</name><affiliation><nlm:aff id="A21">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name><affiliation><nlm:aff id="A75">Division of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK</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="A53">Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name><affiliation><nlm:aff id="A65">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A66">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A67">Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland</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="A76">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name><affiliation><nlm:aff id="A77">Department of Oncology—Pathology, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name><affiliation><nlm:aff id="A78">Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan</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="A79">Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Gillian" sort="Mitchell, Gillian" uniqKey="Mitchell G" first="Gillian" last="Mitchell">Gillian Mitchell</name><affiliation><nlm:aff id="A9">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A55">Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name><affiliation><nlm:aff id="A75">Division of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A80">Institute of Population Health, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Nevelsteen, Ines" sort="Nevelsteen, Ines" uniqKey="Nevelsteen I" first="Ines" last="Nevelsteen">Ines Nevelsteen</name><affiliation><nlm:aff id="A82">University Hospital Gashuisberg, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Den Ouweland, Ans" sort="Van Den Ouweland, Ans" uniqKey="Van Den Ouweland A" first="Ans" last="Van Den Ouweland">Ans Van Den Ouweland</name><affiliation><nlm:aff id="A83">Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands</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="A84">IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Phuah, Sze Yee" sort="Phuah, Sze Yee" uniqKey="Phuah S" first="Sze Yee" last="Phuah">Sze Yee Phuah</name><affiliation><nlm:aff id="A85">Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia</nlm:aff></affiliation><affiliation><nlm:aff id="A86">Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Pylk S, Katri" sort="Pylk S, Katri" uniqKey="Pylk S K" first="Katri" last="Pylk S">Katri Pylk S</name><affiliation><nlm:aff id="A87">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A88">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland</nlm:aff></affiliation></author><author><name sortKey="Rowley, Simone M" sort="Rowley, Simone M" uniqKey="Rowley S" first="Simone M" last="Rowley">Simone M. Rowley</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name><affiliation><nlm:aff id="A89">National Cancer Institute, Bangkok, Thailand</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K" last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="A90">Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A91">Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Center for Molecular Medicine Cologne (CMMC), University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name><affiliation><nlm:aff id="A93">School of Public Health, China Medical University, Taichung, Taiwan</nlm:aff></affiliation><affiliation><nlm:aff id="A94">Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Shu, Xiao Ou" sort="Shu, Xiao Ou" uniqKey="Shu X" first="Xiao-Ou" last="Shu">Xiao-Ou Shu</name><affiliation><nlm:aff id="A95">Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="A54">Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name><affiliation><nlm:aff id="A96">Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A97">Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name><affiliation><nlm:aff id="A60">Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A61">Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Teo, Soo H" sort="Teo, Soo H" uniqKey="Teo S" first="Soo H" last="Teo">Soo H. Teo</name><affiliation><nlm:aff id="A85">Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia</nlm:aff></affiliation><affiliation><nlm:aff id="A86">Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia</nlm:aff></affiliation></author><author><name sortKey="Tollenaar, Rob A E M" sort="Tollenaar, Rob A E M" uniqKey="Tollenaar R" first="Rob A E M" last="Tollenaar">Rob A E M. Tollenaar</name><affiliation><nlm:aff id="A98">Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name><affiliation><nlm:aff id="A99">Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Torres, Diana" sort="Torres, Diana" uniqKey="Torres D" first="Diana" last="Torres">Diana Torres</name><affiliation><nlm:aff id="A62">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A100">Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia</nlm:aff></affiliation></author><author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name><affiliation><nlm:aff id="A46">University Paris-Sud, UMRS 1018, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Vachon, Celine" sort="Vachon, Celine" uniqKey="Vachon C" first="Celine" last="Vachon">Celine Vachon</name><affiliation><nlm:aff id="A48">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Verhoef, Senno" sort="Verhoef, Senno" uniqKey="Verhoef S" first="Senno" last="Verhoef">Senno Verhoef</name><affiliation><nlm:aff id="A101">Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wong Brown, Michelle" sort="Wong Brown, Michelle" uniqKey="Wong Brown M" first="Michelle" last="Wong-Brown">Michelle Wong-Brown</name><affiliation><nlm:aff id="A102">Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name><affiliation><nlm:aff id="A21">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</nlm:aff></affiliation></author><author><name sortKey="Zheng, Ying" sort="Zheng, Ying" uniqKey="Zheng Y" first="Ying" last="Zheng">Ying Zheng</name><affiliation><nlm:aff id="A103">Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China</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="A104">Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Scott, Rodney J" sort="Scott, Rodney J" uniqKey="Scott R" first="Rodney J" last="Scott">Rodney J. Scott</name><affiliation><nlm:aff id="A102">Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A105">Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L" last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="A45">Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A106">Department of Molecular Genetics, University of Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Wu, Anna H" sort="Wu, Anna H" uniqKey="Wu A" first="Anna H" last="Wu">Anna H. Wu</name><affiliation><nlm:aff id="A19">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="A107">Centre for Epidemiology and Biostatistics, University of Melbourne, Melbourne, Victoria, Australia</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="A108">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff></affiliation></author><author><name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name><affiliation><nlm:aff id="A87">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A88">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland</nlm:aff></affiliation></author><author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name><affiliation><nlm:aff id="A96">Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A97">Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J" last="Sawyer">Elinor J. Sawyer</name><affiliation><nlm:aff id="A109">Research Oncology, Division of Cancer Studies, King’s College London, Guy’s Hospital, London, UK</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K" last="Schmidt">Marjanka K. Schmidt</name><affiliation><nlm:aff id="A101">Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name><affiliation><nlm:aff id="A28">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name><affiliation><nlm:aff id="A110">Gynaecology Research Unit, Hannover Medical School, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name><affiliation><nlm:aff id="A26">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A111">Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A112">University of Tübingen, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name><affiliation><nlm:aff id="A62">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</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="A113">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA</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="A43">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name><affiliation><nlm:aff id="A59">Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A60">Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D P" last="Pharoah">Paul D P. Pharoah</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Campbell, Ian G" sort="Campbell, Ian G" uniqKey="Campbell I" first="Ian G" last="Campbell">Ian G. Campbell</name><affiliation><nlm:aff id="A8">Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A54">Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M" last="Dunning">Alison M. Dunning</name><affiliation><nlm:aff id="A1">Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, Florence" sort="Le Calvez Kelm, Florence" uniqKey="Le Calvez Kelm F" first="Florence" last="Le Calvez-Kelm">Florence Le Calvez-Kelm</name><affiliation><nlm:aff id="A7">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A114">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A115">Cancer Control and Population Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name><affiliation><nlm:aff id="A116">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="A6">Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in <italic>BRIP1</italic> are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in <italic>BRIP1</italic> are associated with an increased risk of breast cancer. These studies have led to inclusion of <italic>BRIP1</italic> on targeted sequencing panels for breast cancer risk prediction.</p></sec><sec id="S2"><title>Methods</title><p id="P2">We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of <italic>BRIP1,</italic> in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of <italic>BRIP1</italic> in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia.</p></sec><sec id="S3"><title>Results</title><p id="P3">The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">These results suggest that truncating variants in <italic>BRIP1</italic>, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">2985087R</journal-id><journal-id journal-id-type="pubmed-jr-id">4945</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="iso-abbrev">J. Med. Genet.</journal-id><journal-title-group><journal-title>Journal of medical genetics</journal-title></journal-title-group><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26921362</article-id><article-id pub-id-type="pmc">4938802</article-id><article-id pub-id-type="doi">10.1136/jmedgenet-2015-103529</article-id><article-id pub-id-type="manuscript">NIHMS783860</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>No evidence that protein truncating variants in <italic>BRIP1</italic> are associated with breast cancer risk: implications for gene panel testing</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib 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contrib-type="author"><name><surname>Hamann</surname><given-names>Ute</given-names></name><xref ref-type="aff" rid="A62">62</xref></contrib><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L</given-names></name><xref ref-type="aff" rid="A113">113</xref></contrib><contrib contrib-type="author"><name><surname>Milne</surname><given-names>Roger L</given-names></name><xref ref-type="aff" rid="A43">43</xref><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Fletcher</surname><given-names>Olivia</given-names></name><xref ref-type="aff" rid="A59">59</xref><xref ref-type="aff" rid="A60">60</xref></contrib><contrib contrib-type="author"><name><surname>Pharoah</surname><given-names>Paul D P</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Ian G</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A54">54</xref></contrib><contrib contrib-type="author"><name><surname>Dunning</surname><given-names>Alison M</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Le Calvez-Kelm</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E</given-names></name><xref ref-type="aff" rid="A114">114</xref><xref ref-type="aff" rid="A115">115</xref></contrib><contrib contrib-type="author"><name><surname>Tavtigian</surname><given-names>Sean V</given-names></name><xref ref-type="aff" rid="A116">116</xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</aff><aff id="A2"><label>2</label>Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK</aff><aff id="A3"><label>3</label>Genetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France</aff><aff id="A4"><label>4</label>Cancer Genetics and Comparative Genomics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA</aff><aff id="A5"><label>5</label>Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</aff><aff id="A6"><label>6</label>Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia</aff><aff id="A7"><label>7</label>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France</aff><aff id="A8"><label>8</label>Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia</aff><aff id="A9"><label>9</label>Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia</aff><aff id="A10"><label>10</label>Genetic of Breast Cancer Team, Cancer Research Center of Lyon, Centre Léon Bérard, Lyon, France</aff><aff id="A11"><label>11</label>Clinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff><aff id="A12"><label>12</label>Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</aff><aff id="A13"><label>13</label>Department of Epidemiology, University of California Irvine, Irvine, California, USA</aff><aff id="A14"><label>14</label>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany</aff><aff id="A15"><label>15</label>Peter MacCallum Cancer Centre, The University of Melbourne, Melbourne, Australia</aff><aff id="A16"><label>16</label>Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany</aff><aff id="A17"><label>17</label>Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain</aff><aff id="A18"><label>18</label>Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain</aff><aff id="A19"><label>19</label>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA</aff><aff id="A20"><label>20</label>International Epidemiology Institute, Rockville, Maryland, USA</aff><aff id="A21"><label>21</label>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</aff><aff id="A22"><label>22</label>Department of Radiation Oncology, Hannover Medical School, Hannover, Germany</aff><aff id="A23"><label>23</label>Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</aff><aff id="A24"><label>24</label>Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</aff><aff id="A25"><label>25</label>Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark</aff><aff id="A26"><label>26</label>German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany</aff><aff id="A27"><label>27</label>Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany</aff><aff id="A28"><label>28</label>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany</aff><aff id="A29"><label>29</label>University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany</aff><aff id="A30"><label>30</label>Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore</aff><aff id="A31"><label>31</label>Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea</aff><aff id="A32"><label>32</label>Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea</aff><aff id="A33"><label>33</label>Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK</aff><aff id="A34"><label>34</label>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK</aff><aff id="A35"><label>35</label>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</aff><aff id="A36"><label>36</label>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</aff><aff id="A37"><label>37</label>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands</aff><aff id="A38"><label>38</label>David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California, Los Angeles, California, USA</aff><aff id="A39"><label>39</label>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA</aff><aff id="A40"><label>40</label>Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK</aff><aff id="A41"><label>41</label>Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark</aff><aff id="A42"><label>42</label>Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research “Demokritos”, Athens, Greece</aff><aff id="A43"><label>43</label>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia</aff><aff id="A44"><label>44</label>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia</aff><aff id="A45"><label>45</label>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada</aff><aff id="A46"><label>46</label>University Paris-Sud, UMRS 1018, Villejuif, France</aff><aff id="A47"><label>47</label>Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France</aff><aff id="A48"><label>48</label>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</aff><aff id="A49"><label>49</label>Department of Surgery, National University Health System, Singapore, Singapore</aff><aff id="A50"><label>50</label>Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</aff><aff id="A51"><label>51</label>Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</aff><aff id="A52"><label>52</label>Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan</aff><aff id="A53"><label>53</label>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</aff><aff id="A54"><label>54</label>Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia</aff><aff id="A55"><label>55</label>Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia</aff><aff id="A56"><label>56</label>Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA</aff><aff id="A57"><label>57</label>Department of Health Research and Policy—Epidemiology, Stanford University School of Medicine, Stanford, California, USA</aff><aff id="A58"><label>58</label>Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA</aff><aff id="A59"><label>59</label>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK</aff><aff id="A60"><label>60</label>Division of Breast Cancer Research, The Institute of Cancer Research, London, UK</aff><aff id="A61"><label>61</label>Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK</aff><aff id="A62"><label>62</label>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany</aff><aff id="A63"><label>63</label>Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University, Seoul, Korea</aff><aff id="A64"><label>64</label>kConFab: Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia</aff><aff id="A65"><label>65</label>Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland</aff><aff id="A66"><label>66</label>Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland</aff><aff id="A67"><label>67</label>Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland</aff><aff id="A68"><label>68</label>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway</aff><aff id="A69"><label>69</label>Faculty of Medicine, K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway</aff><aff id="A70"><label>70</label>Department of Clinical Molecular Biology (EpiGen), University of Oslo (UiO), Oslo, Norway</aff><aff id="A71"><label>71</label>Vesalius Research Center, VIB, Leuven, Belgium</aff><aff id="A72"><label>72</label>Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium</aff><aff id="A73"><label>73</label>Cancer Biology Research Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China</aff><aff id="A74"><label>74</label>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</aff><aff id="A75"><label>75</label>Division of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK</aff><aff id="A76"><label>76</label>Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy</aff><aff id="A77"><label>77</label>Department of Oncology—Pathology, Karolinska Institutet, Stockholm, Sweden</aff><aff id="A78"><label>78</label>Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan</aff><aff id="A79"><label>79</label>Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany</aff><aff id="A80"><label>80</label>Institute of Population Health, University of Manchester, Manchester, UK</aff><aff id="A81"><label>81</label>Norwegian Breast Cancer Study, Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway</aff><aff id="A82"><label>82</label>University Hospital Gashuisberg, Leuven, Belgium</aff><aff id="A83"><label>83</label>Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands</aff><aff id="A84"><label>84</label>IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy</aff><aff id="A85"><label>85</label>Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia</aff><aff id="A86"><label>86</label>Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia</aff><aff id="A87"><label>87</label>Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland</aff><aff id="A88"><label>88</label>Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland</aff><aff id="A89"><label>89</label>National Cancer Institute, Bangkok, Thailand</aff><aff id="A90"><label>90</label>Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Germany</aff><aff id="A91"><label>91</label>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Germany</aff><aff id="A92"><label>92</label>Center for Molecular Medicine Cologne (CMMC), University of Cologne, Germany</aff><aff id="A93"><label>93</label>School of Public Health, China Medical University, Taichung, Taiwan</aff><aff id="A94"><label>94</label>Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</aff><aff id="A95"><label>95</label>Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA</aff><aff id="A96"><label>96</label>Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany</aff><aff id="A97"><label>97</label>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany</aff><aff id="A98"><label>98</label>Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands</aff><aff id="A99"><label>99</label>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK</aff><aff id="A100"><label>100</label>Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia</aff><aff id="A101"><label>101</label>Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands</aff><aff id="A102"><label>102</label>Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia</aff><aff id="A103"><label>103</label>Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China</aff><aff id="A104"><label>104</label>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</aff><aff id="A105"><label>105</label>Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia</aff><aff id="A106"><label>106</label>Department of Molecular Genetics, University of Toronto, Ontario, Canada</aff><aff id="A107"><label>107</label>Centre for Epidemiology and Biostatistics, University of Melbourne, Melbourne, Victoria, Australia</aff><aff id="A108"><label>108</label>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</aff><aff id="A109"><label>109</label>Research Oncology, Division of Cancer Studies, King’s College London, Guy’s Hospital, London, UK</aff><aff id="A110"><label>110</label>Gynaecology Research Unit, Hannover Medical School, Hannover, Germany</aff><aff id="A111"><label>111</label>Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany</aff><aff id="A112"><label>112</label>University of Tübingen, Tübingen, Germany</aff><aff id="A113"><label>113</label>Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA</aff><aff id="A114"><label>114</label>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA</aff><aff id="A115"><label>115</label>Cancer Control and Population Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, USA</aff><aff id="A116"><label>116</label>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA</aff><author-notes><corresp id="FN1">Correspondence to Dr G Chenevix-Trench, Department of Genetics and Computational Biology, QIMR Berghofer, c/o Locked Bag 2000, RBH Post Office, Herston, QLD 4029, Australia; <email>georgiaT@qimr.edu.au</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>22</day><month>6</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>26</day><month>2</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>11</month><year>2016</year></pub-date><volume>53</volume><issue>5</issue><fpage>298</fpage><lpage>309</lpage><pmc-comment>elocation-id from pubmed: 10.1136/jmedgenet-2015-103529</pmc-comment>
<abstract><sec id="S1"><title>Background</title><p id="P1">BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in <italic>BRIP1</italic> are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in <italic>BRIP1</italic> are associated with an increased risk of breast cancer. These studies have led to inclusion of <italic>BRIP1</italic> on targeted sequencing panels for breast cancer risk prediction.</p></sec><sec id="S2"><title>Methods</title><p id="P2">We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of <italic>BRIP1,</italic> in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of <italic>BRIP1</italic> in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia.</p></sec><sec id="S3"><title>Results</title><p id="P3">The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">These results suggest that truncating variants in <italic>BRIP1</italic>, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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