Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
Identifieur interne : 001A89 ( PubMed/Corpus ); précédent : 001A88; suivant : 001A90Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
Auteurs : Hisani N. Horne ; Charles C. Chung ; Han Zhang ; Kai Yu ; Ludmila Prokunina-Olsson ; Kyriaki Michailidou ; Manjeet K. Bolla ; Qin Wang ; Joe Dennis ; John L. Hopper ; Melissa C. Southey ; Marjanka K. Schmidt ; Annegien Broeks ; Kenneth Muir ; Artitaya Lophatananon ; Peter A. Fasching ; Matthias W. Beckmann ; Olivia Fletcher ; Nichola Johnson ; Elinor J. Sawyer ; Ian Tomlinson ; Barbara Burwinkel ; Frederik Marme ; Pascal Guénel ; Thérèse Truong ; Stig E. Bojesen ; Henrik Flyger ; Javier Benitez ; Anna González-Neira ; Hoda Anton-Culver ; Susan L. Neuhausen ; Hermann Brenner ; Volker Arndt ; Alfons Meindl ; Rita K. Schmutzler ; Hiltrud Brauch ; Ute Hamann ; Heli Nevanlinna ; Sofia Khan ; Keitaro Matsuo ; Hiroji Iwata ; Thilo Dörk ; Natalia V. Bogdanova ; Annika Lindblom ; Sara Margolin ; Arto Mannermaa ; Veli-Matti Kosma ; Georgia Chenevix-Trench ; Anna H. Wu ; David Ven Den Berg ; Ann Smeets ; Hui Zhao ; Jenny Chang-Claude ; Anja Rudolph ; Paolo Radice ; Monica Barile ; Fergus J. Couch ; Celine Vachon ; Graham G. Giles ; Roger L. Milne ; Christopher A. Haiman ; Loic Le Marchand ; Mark S. Goldberg ; Soo H. Teo ; Nur A M. Taib ; Vessela Kristensen ; Anne-Lise Borresen-Dale ; Wei Zheng ; Martha Shrubsole ; Robert Winqvist ; Arja Jukkola-Vuorinen ; Irene L. Andrulis ; Julia A. Knight ; Peter Devilee ; Caroline Seynaeve ; Montserrat García-Closas ; Kamila Czene ; Hatef Darabi ; Antoinette Hollestelle ; John W M. Martens ; Jingmei Li ; Wei Lu ; Xiao-Ou Shu ; Angela Cox ; Simon S. Cross ; William Blot ; Qiuyin Cai ; Mitul Shah ; Craig Luccarini ; Caroline Baynes ; Patricia Harrington ; Daehee Kang ; Ji-Yeob Choi ; Mikael Hartman ; Kee Seng Chia ; Maria Kabisch ; Diana Torres ; Anna Jakubowska ; Jan Lubinski ; Suleeporn Sangrajrang ; Paul Brennan ; Susan Slager ; Drakoulis Yannoukakos ; Chen-Yang Shen ; Ming-Feng Hou ; Anthony Swerdlow ; Nick Orr ; Jacques Simard ; Per Hall ; Paul D P. Pharoah ; Douglas F. Easton ; Stephen J. Chanock ; Alison M. Dunning ; Jonine D. FigueroaSource :
- PloS one [ 1932-6203 ] ; 2016.
English descriptors
- KwdEn :
- Alleles, Breast Neoplasms (epidemiology), Breast Neoplasms (genetics), Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 1, Computational Biology (methods), Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Neoplasm Grading, Polymorphism, Single Nucleotide, Population Surveillance, Quantitative Trait Loci, Risk Assessment.
- MESH :
- epidemiology : Breast Neoplasms.
- genetics : Breast Neoplasms.
- methods : Computational Biology.
- Alleles, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 1, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Neoplasm Grading, Polymorphism, Single Nucleotide, Population Surveillance, Quantitative Trait Loci, Risk Assessment.
Abstract
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.
DOI: 10.1371/journal.pone.0160316
PubMed: 27556229
Links to Exploration step
pubmed:27556229Le document en format XML
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<author><name sortKey="Horne, Hisani N" sort="Horne, Hisani N" uniqKey="Horne H" first="Hisani N" last="Horne">Hisani N. Horne</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chung, Charles C" sort="Chung, Charles C" uniqKey="Chung C" first="Charles C" last="Chung">Charles C. Chung</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zhang, Han" sort="Zhang, Han" uniqKey="Zhang H" first="Han" last="Zhang">Han Zhang</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Yu, Kai" sort="Yu, Kai" uniqKey="Yu K" first="Kai" last="Yu">Kai Yu</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Prokunina Olsson, Ludmila" sort="Prokunina Olsson, Ludmila" uniqKey="Prokunina Olsson L" first="Ludmila" last="Prokunina-Olsson">Ludmila Prokunina-Olsson</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</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:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</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:affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
</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:affiliation>Department of Pathology, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
</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:affiliation>Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Broeks, Annegien" sort="Broeks, Annegien" uniqKey="Broeks A" first="Annegien" last="Broeks">Annegien Broeks</name>
<affiliation><nlm:affiliation>Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name>
<affiliation><nlm:affiliation>Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name>
<affiliation><nlm:affiliation>Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.</nlm:affiliation>
</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:affiliation>Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Beckmann, Matthias W" sort="Beckmann, Matthias W" uniqKey="Beckmann M" first="Matthias W" last="Beckmann">Matthias W. Beckmann</name>
<affiliation><nlm:affiliation>Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name>
<affiliation><nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<affiliation><nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
</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:affiliation>Research Oncology, Guy's Hospital, King's College London, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name>
<affiliation><nlm:affiliation>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name>
<affiliation><nlm:affiliation>Environmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name>
<affiliation><nlm:affiliation>Environmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.</nlm:affiliation>
</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:affiliation>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
<affiliation><nlm:affiliation>Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name>
<affiliation><nlm:affiliation>Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.</nlm:affiliation>
</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:affiliation>Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.</nlm:affiliation>
</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:affiliation>Department of Epidemiology, University of California Irvine, Irvine, CA, United States of America.</nlm:affiliation>
</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:affiliation>Beckman Research Institute of City of Hope, Duarte, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name>
<affiliation><nlm:affiliation>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name>
<affiliation><nlm:affiliation>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name>
<affiliation><nlm:affiliation>Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.</nlm:affiliation>
</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:affiliation>Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, Cologne, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name>
<affiliation><nlm:affiliation>German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
<affiliation><nlm:affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name>
<affiliation><nlm:affiliation>Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Iwata, Hiroji" sort="Iwata, Hiroji" uniqKey="Iwata H" first="Hiroji" last="Iwata">Hiroji Iwata</name>
<affiliation><nlm:affiliation>Department of Breast Oncology, Aichi Cancer Center Hospital, Aichi, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name>
<affiliation><nlm:affiliation>Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
</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:affiliation>Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
<affiliation><nlm:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
<affiliation><nlm:affiliation>Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name>
<affiliation><nlm:affiliation>Cancer Center, Kuopio University Hospital, Kuopio, Finland.</nlm:affiliation>
</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:affiliation>Cancer Center, Kuopio University Hospital, Kuopio, Finland.</nlm:affiliation>
</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:affiliation>Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation>
</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:affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ven Den Berg, David" sort="Ven Den Berg, David" uniqKey="Ven Den Berg D" first="David" last="Ven Den Berg">David Ven Den Berg</name>
<affiliation><nlm:affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Smeets, Ann" sort="Smeets, Ann" uniqKey="Smeets A" first="Ann" last="Smeets">Ann Smeets</name>
<affiliation><nlm:affiliation>University Hospital Gashuisberg, Leuven, Belgium.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zhao, Hui" sort="Zhao, Hui" uniqKey="Zhao H" first="Hui" last="Zhao">Hui Zhao</name>
<affiliation><nlm:affiliation>Vesalius Research Center, Leuven, Belgium.</nlm:affiliation>
</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:affiliation>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
<affiliation><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name>
<affiliation><nlm:affiliation>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.</nlm:affiliation>
</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:affiliation>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Vachon, Celine" sort="Vachon, Celine" uniqKey="Vachon C" first="Celine" last="Vachon">Celine Vachon</name>
<affiliation><nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
</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:affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
</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:affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
</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:affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Marchand, Loic Le" sort="Marchand, Loic Le" uniqKey="Marchand L" first="Loic Le" last="Marchand">Loic Le Marchand</name>
<affiliation><nlm:affiliation>University of Hawaii Cancer Center, Honolulu, HI, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Goldberg, Mark S" sort="Goldberg, Mark S" uniqKey="Goldberg M" first="Mark S" last="Goldberg">Mark S. Goldberg</name>
<affiliation><nlm:affiliation>Department of Medicine, McGill University, Montreal, Canada.</nlm:affiliation>
</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:affiliation>Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Taib, Nur A M" sort="Taib, Nur A M" uniqKey="Taib N" first="Nur A M" last="Taib">Nur A M. Taib</name>
<affiliation><nlm:affiliation>Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, KualaLumpur, Malaysia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name>
<affiliation><nlm:affiliation>Department of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Borresen Dale, Anne Lise" sort="Borresen Dale, Anne Lise" uniqKey="Borresen Dale A" first="Anne-Lise" last="Borresen-Dale">Anne-Lise Borresen-Dale</name>
<affiliation><nlm:affiliation>Department of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name>
<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Shrubsole, Martha" sort="Shrubsole, Martha" uniqKey="Shrubsole M" first="Martha" last="Shrubsole">Martha Shrubsole</name>
<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name>
<affiliation><nlm:affiliation>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
</affiliation>
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<affiliation><nlm:affiliation>Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.</nlm:affiliation>
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</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:affiliation>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</nlm:affiliation>
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<affiliation><nlm:affiliation>Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</nlm:affiliation>
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</author>
<author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation><nlm:affiliation>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.</nlm:affiliation>
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</author>
<author><name sortKey="Seynaeve, Caroline" sort="Seynaeve, Caroline" uniqKey="Seynaeve C" first="Caroline" last="Seynaeve">Caroline Seynaeve</name>
<affiliation><nlm:affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</nlm:affiliation>
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<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
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<author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name>
<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
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<affiliation><nlm:affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</nlm:affiliation>
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<author><name sortKey="Martens, John W M" sort="Martens, John W M" uniqKey="Martens J" first="John W M" last="Martens">John W M. Martens</name>
<affiliation><nlm:affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</nlm:affiliation>
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</author>
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<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
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</author>
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<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
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<affiliation><nlm:affiliation>Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
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<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.</nlm:affiliation>
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<affiliation><nlm:affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
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<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2016">2016</date>
<idno type="RBID">pubmed:27556229</idno>
<idno type="pmid">27556229</idno>
<idno type="doi">10.1371/journal.pone.0160316</idno>
<idno type="wicri:Area/PubMed/Corpus">001A89</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001A89</idno>
</publicationStmt>
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<affiliation><nlm:affiliation>Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.</nlm:affiliation>
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<affiliation><nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.</nlm:affiliation>
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<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
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<author><name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
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</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:affiliation>Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.</nlm:affiliation>
</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:affiliation>Department of Epidemiology, University of California Irvine, Irvine, CA, United States of America.</nlm:affiliation>
</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:affiliation>Beckman Research Institute of City of Hope, Duarte, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name>
<affiliation><nlm:affiliation>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name>
<affiliation><nlm:affiliation>Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name>
<affiliation><nlm:affiliation>Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.</nlm:affiliation>
</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:affiliation>Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, Cologne, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name>
<affiliation><nlm:affiliation>German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
<affiliation><nlm:affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name>
<affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name>
<affiliation><nlm:affiliation>Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Iwata, Hiroji" sort="Iwata, Hiroji" uniqKey="Iwata H" first="Hiroji" last="Iwata">Hiroji Iwata</name>
<affiliation><nlm:affiliation>Department of Breast Oncology, Aichi Cancer Center Hospital, Aichi, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name>
<affiliation><nlm:affiliation>Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
</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:affiliation>Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
<affiliation><nlm:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
<affiliation><nlm:affiliation>Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name>
<affiliation><nlm:affiliation>Cancer Center, Kuopio University Hospital, Kuopio, Finland.</nlm:affiliation>
</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:affiliation>Cancer Center, Kuopio University Hospital, Kuopio, Finland.</nlm:affiliation>
</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:affiliation>Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation>
</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:affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ven Den Berg, David" sort="Ven Den Berg, David" uniqKey="Ven Den Berg D" first="David" last="Ven Den Berg">David Ven Den Berg</name>
<affiliation><nlm:affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Smeets, Ann" sort="Smeets, Ann" uniqKey="Smeets A" first="Ann" last="Smeets">Ann Smeets</name>
<affiliation><nlm:affiliation>University Hospital Gashuisberg, Leuven, Belgium.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zhao, Hui" sort="Zhao, Hui" uniqKey="Zhao H" first="Hui" last="Zhao">Hui Zhao</name>
<affiliation><nlm:affiliation>Vesalius Research Center, Leuven, Belgium.</nlm:affiliation>
</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:affiliation>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
<affiliation><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name>
<affiliation><nlm:affiliation>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.</nlm:affiliation>
</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:affiliation>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Vachon, Celine" sort="Vachon, Celine" uniqKey="Vachon C" first="Celine" last="Vachon">Celine Vachon</name>
<affiliation><nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
</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:affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
</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:affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
</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:affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Marchand, Loic Le" sort="Marchand, Loic Le" uniqKey="Marchand L" first="Loic Le" last="Marchand">Loic Le Marchand</name>
<affiliation><nlm:affiliation>University of Hawaii Cancer Center, Honolulu, HI, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Goldberg, Mark S" sort="Goldberg, Mark S" uniqKey="Goldberg M" first="Mark S" last="Goldberg">Mark S. Goldberg</name>
<affiliation><nlm:affiliation>Department of Medicine, McGill University, Montreal, Canada.</nlm:affiliation>
</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:affiliation>Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Taib, Nur A M" sort="Taib, Nur A M" uniqKey="Taib N" first="Nur A M" last="Taib">Nur A M. Taib</name>
<affiliation><nlm:affiliation>Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, KualaLumpur, Malaysia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name>
<affiliation><nlm:affiliation>Department of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Borresen Dale, Anne Lise" sort="Borresen Dale, Anne Lise" uniqKey="Borresen Dale A" first="Anne-Lise" last="Borresen-Dale">Anne-Lise Borresen-Dale</name>
<affiliation><nlm:affiliation>Department of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name>
<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Shrubsole, Martha" sort="Shrubsole, Martha" uniqKey="Shrubsole M" first="Martha" last="Shrubsole">Martha Shrubsole</name>
<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name>
<affiliation><nlm:affiliation>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jukkola Vuorinen, Arja" sort="Jukkola Vuorinen, Arja" uniqKey="Jukkola Vuorinen A" first="Arja" last="Jukkola-Vuorinen">Arja Jukkola-Vuorinen</name>
<affiliation><nlm:affiliation>Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.</nlm:affiliation>
</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:affiliation>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Knight, Julia A" sort="Knight, Julia A" uniqKey="Knight J" first="Julia A" last="Knight">Julia A. Knight</name>
<affiliation><nlm:affiliation>Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation><nlm:affiliation>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Seynaeve, Caroline" sort="Seynaeve, Caroline" uniqKey="Seynaeve C" first="Caroline" last="Seynaeve">Caroline Seynaeve</name>
<affiliation><nlm:affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</nlm:affiliation>
</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:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name>
<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hollestelle, Antoinette" sort="Hollestelle, Antoinette" uniqKey="Hollestelle A" first="Antoinette" last="Hollestelle">Antoinette Hollestelle</name>
<affiliation><nlm:affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Martens, John W M" sort="Martens, John W M" uniqKey="Martens J" first="John W M" last="Martens">John W M. Martens</name>
<affiliation><nlm:affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Li, Jingmei" sort="Li, Jingmei" uniqKey="Li J" first="Jingmei" last="Li">Jingmei Li</name>
<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lu, Wei" sort="Lu, Wei" uniqKey="Lu W" first="Wei" last="Lu">Wei Lu</name>
<affiliation><nlm:affiliation>Shanghai Center for Disease Control and Prevention, Shanghai, China.</nlm:affiliation>
</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:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name>
<affiliation><nlm:affiliation>Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.</nlm:affiliation>
</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:affiliation>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Blot, William" sort="Blot, William" uniqKey="Blot W" first="William" last="Blot">William Blot</name>
<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cai, Qiuyin" sort="Cai, Qiuyin" uniqKey="Cai Q" first="Qiuyin" last="Cai">Qiuyin Cai</name>
<affiliation><nlm:affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Luccarini, Craig" sort="Luccarini, Craig" uniqKey="Luccarini C" first="Craig" last="Luccarini">Craig Luccarini</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Baynes, Caroline" sort="Baynes, Caroline" uniqKey="Baynes C" first="Caroline" last="Baynes">Caroline Baynes</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Harrington, Patricia" sort="Harrington, Patricia" uniqKey="Harrington P" first="Patricia" last="Harrington">Patricia Harrington</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name>
<affiliation><nlm:affiliation>Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.</nlm:affiliation>
</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:affiliation>Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name>
<affiliation><nlm:affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</nlm:affiliation>
</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:affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name>
<affiliation><nlm:affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Torres, Diana" sort="Torres, Diana" uniqKey="Torres D" first="Diana" last="Torres">Diana Torres</name>
<affiliation><nlm:affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name>
<affiliation><nlm:affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name>
<affiliation><nlm:affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name>
<affiliation><nlm:affiliation>National Cancer Institute, Bangkok, Thailand.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brennan, Paul" sort="Brennan, Paul" uniqKey="Brennan P" first="Paul" last="Brennan">Paul Brennan</name>
<affiliation><nlm:affiliation>International Agency for Research on Cancer, Lyon, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name>
<affiliation><nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Yannoukakos, Drakoulis" sort="Yannoukakos, Drakoulis" uniqKey="Yannoukakos D" first="Drakoulis" last="Yannoukakos">Drakoulis Yannoukakos</name>
<affiliation><nlm:affiliation>Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Athens, Greece.</nlm:affiliation>
</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:affiliation>School of Public Health, China Medical University, Taichung, Taiwan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hou, Ming Feng" sort="Hou, Ming Feng" uniqKey="Hou M" first="Ming-Feng" last="Hou">Ming-Feng Hou</name>
<affiliation><nlm:affiliation>Cancer Center and Department of Surgery, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name>
<affiliation><nlm:affiliation>Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Orr, Nick" sort="Orr, Nick" uniqKey="Orr N" first="Nick" last="Orr">Nick Orr</name>
<affiliation><nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
<affiliation><nlm:affiliation>Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name>
<affiliation><nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
</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:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name>
<affiliation><nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J" last="Chanock">Stephen J. Chanock</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</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:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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</author>
<author><name sortKey="Figueroa, Jonine D" sort="Figueroa, Jonine D" uniqKey="Figueroa J" first="Jonine D" last="Figueroa">Jonine D. Figueroa</name>
<affiliation><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series><title level="j">PloS one</title>
<idno type="eISSN">1932-6203</idno>
<imprint><date when="2016" type="published">2016</date>
</imprint>
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<term>Breast Neoplasms (epidemiology)</term>
<term>Breast Neoplasms (genetics)</term>
<term>Case-Control Studies</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 1</term>
<term>Computational Biology (methods)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Association Studies</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linkage Disequilibrium</term>
<term>Neoplasm Grading</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Population Surveillance</term>
<term>Quantitative Trait Loci</term>
<term>Risk Assessment</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Breast Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Breast Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Computational Biology</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Case-Control Studies</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 1</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Association Studies</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linkage Disequilibrium</term>
<term>Neoplasm Grading</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Population Surveillance</term>
<term>Quantitative Trait Loci</term>
<term>Risk Assessment</term>
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<front><div type="abstract" xml:lang="en">The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27556229</PMID>
<DateCreated><Year>2016</Year>
<Month>08</Month>
<Day>25</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>07</Month>
<Day>26</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>22</Day>
</DateRevised>
<Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Electronic">1932-6203</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>11</Volume>
<Issue>8</Issue>
<PubDate><Year>2016</Year>
</PubDate>
</JournalIssue>
<Title>PloS one</Title>
<ISOAbbreviation>PLoS ONE</ISOAbbreviation>
</Journal>
<ArticleTitle>Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.</ArticleTitle>
<Pagination><MedlinePgn>e0160316</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1371/journal.pone.0160316</ELocationID>
<Abstract><AbstractText>The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.</AbstractText>
</Abstract>
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<Initials>HN</Initials>
<AffiliationInfo><Affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</Affiliation>
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<Initials>CC</Initials>
<AffiliationInfo><Affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</Affiliation>
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<AffiliationInfo><Affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</Affiliation>
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</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>R01 CA176785</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R01 CA092447</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U01 CA116167</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 CA116201</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>10124</GrantID>
<Agency>Cancer Research UK</Agency>
<Country>United Kingdom</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>08</Month>
<Day>24</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>PLoS One</MedlineTA>
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<ISSNLinking>1932-6203</ISSNLinking>
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<CoiStatement>The authors have declared that no competing interests exist.</CoiStatement>
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