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Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.

Identifieur interne : 001A89 ( PubMed/Corpus ); précédent : 001A88; suivant : 001A90

Fine-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. Figueroa

Source :

RBID : pubmed:27556229

English descriptors

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:27556229

Le document en format XML

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<name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
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<name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
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<name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name>
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<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C" last="Southey">Melissa C. Southey</name>
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<nlm:affiliation>Department of Pathology, The University of Melbourne, Melbourne, Australia.</nlm:affiliation>
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<name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K" last="Schmidt">Marjanka K. Schmidt</name>
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<nlm:affiliation>Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.</nlm:affiliation>
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<name sortKey="Broeks, Annegien" sort="Broeks, Annegien" uniqKey="Broeks A" first="Annegien" last="Broeks">Annegien Broeks</name>
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<nlm:affiliation>Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.</nlm:affiliation>
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<name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name>
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<nlm:affiliation>Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.</nlm:affiliation>
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<name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name>
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<nlm:affiliation>Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.</nlm:affiliation>
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<name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A" last="Fasching">Peter A. Fasching</name>
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<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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<name sortKey="Beckmann, Matthias W" sort="Beckmann, Matthias W" uniqKey="Beckmann M" first="Matthias W" last="Beckmann">Matthias W. Beckmann</name>
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<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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<author>
<name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name>
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<nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
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<nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J" last="Sawyer">Elinor J. Sawyer</name>
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<nlm:affiliation>Research Oncology, Guy's Hospital, King's College London, London, UK.</nlm:affiliation>
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<name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name>
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<nlm:affiliation>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.</nlm:affiliation>
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<name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
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<nlm:affiliation>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
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<name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name>
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<nlm:affiliation>Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
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<name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name>
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<nlm:affiliation>Environmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.</nlm:affiliation>
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<name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name>
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<nlm:affiliation>Environmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.</nlm:affiliation>
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<name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E" last="Bojesen">Stig E. Bojesen</name>
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<nlm:affiliation>Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.</nlm:affiliation>
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<name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
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<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>
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<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>
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<nlm:affiliation>Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name>
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<nlm:affiliation>Department of Epidemiology, University of California Irvine, Irvine, CA, United States of America.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L" last="Neuhausen">Susan L. Neuhausen</name>
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<nlm:affiliation>Beckman Research Institute of City of Hope, Duarte, CA, United States of America.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name>
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<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>
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<nlm:affiliation>Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K" last="Schmutzler">Rita K. Schmutzler</name>
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<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>
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<nlm:affiliation>German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
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<nlm:affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
</affiliation>
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<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>
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<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>
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<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>
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</author>
<author>
<name sortKey="Teo, Soo H" sort="Teo, Soo H" uniqKey="Teo S" first="Soo H" last="Teo">Soo H. Teo</name>
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<nlm:affiliation>Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.</nlm:affiliation>
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</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>
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<nlm:affiliation>Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, KualaLumpur, Malaysia.</nlm:affiliation>
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</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>
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<nlm:affiliation>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</nlm:affiliation>
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<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>
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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>
</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>
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<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>
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</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>
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<nlm:affiliation>Shanghai Center for Disease Control and Prevention, Shanghai, China.</nlm:affiliation>
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<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>
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<affiliation>
<nlm:affiliation>Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.</nlm:affiliation>
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<nlm:affiliation>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.</nlm:affiliation>
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<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>
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<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>
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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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<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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<nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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<name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name>
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<nlm:affiliation>Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.</nlm:affiliation>
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<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>
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<name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name>
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<nlm:affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</nlm:affiliation>
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<nlm:affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</nlm:affiliation>
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<nlm:affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</nlm:affiliation>
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<nlm:affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</nlm:affiliation>
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<name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name>
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<nlm:affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</nlm:affiliation>
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<name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name>
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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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<name sortKey="Yannoukakos, Drakoulis" sort="Yannoukakos, Drakoulis" uniqKey="Yannoukakos D" first="Drakoulis" last="Yannoukakos">Drakoulis Yannoukakos</name>
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<nlm:affiliation>Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Athens, Greece.</nlm:affiliation>
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<name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name>
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<nlm:affiliation>School of Public Health, China Medical University, Taichung, Taiwan.</nlm:affiliation>
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<nlm:affiliation>Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
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<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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<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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<name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J" last="Chanock">Stephen J. Chanock</name>
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<nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
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<nlm:affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</nlm:affiliation>
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<nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
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<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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<nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<nlm:affiliation>Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.</nlm:affiliation>
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</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>
</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>
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<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>
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<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>
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<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>
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<nlm:affiliation>National Cancer Institute, Bangkok, Thailand.</nlm:affiliation>
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</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>
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<author>
<name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name>
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<nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.</nlm:affiliation>
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</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>
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</author>
<author>
<name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name>
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<nlm:affiliation>School of Public Health, China Medical University, Taichung, Taiwan.</nlm:affiliation>
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<author>
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<nlm:affiliation>Cancer Center and Department of Surgery, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.</nlm:affiliation>
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<name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name>
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<nlm:affiliation>Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<nlm:affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</nlm:affiliation>
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<nlm:affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation>
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<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>
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<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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<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>
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<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>
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<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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<affiliation>
<nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</nlm:affiliation>
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<title level="j">PloS one</title>
<idno type="eISSN">1932-6203</idno>
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<date when="2016" type="published">2016</date>
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<term>Alleles</term>
<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>
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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>
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<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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<Affiliation>Food and Drug Administration, Silver Spring, MD, United States of America.</Affiliation>
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<Affiliation>Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.</Affiliation>
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<Affiliation>Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.</Affiliation>
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<Affiliation>University of Tübingen, Tübingen, Germany.</Affiliation>
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<Affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</Affiliation>
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<Author ValidYN="Y">
<LastName>Nevanlinna</LastName>
<ForeName>Heli</ForeName>
<Initials>H</Initials>
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<Affiliation>Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.</Affiliation>
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</Author>
<Author ValidYN="Y">
<LastName>Khan</LastName>
<ForeName>Sofia</ForeName>
<Initials>S</Initials>
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<Affiliation>Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.</Affiliation>
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<Author ValidYN="Y">
<LastName>Matsuo</LastName>
<ForeName>Keitaro</ForeName>
<Initials>K</Initials>
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<Affiliation>Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.</Affiliation>
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<Author ValidYN="Y">
<LastName>Iwata</LastName>
<ForeName>Hiroji</ForeName>
<Initials>H</Initials>
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<Affiliation>Department of Breast Oncology, Aichi Cancer Center Hospital, Aichi, Japan.</Affiliation>
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<Author ValidYN="Y">
<LastName>Dörk</LastName>
<ForeName>Thilo</ForeName>
<Initials>T</Initials>
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<Affiliation>Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.</Affiliation>
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<Author ValidYN="Y">
<LastName>Bogdanova</LastName>
<ForeName>Natalia V</ForeName>
<Initials>NV</Initials>
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<Affiliation>Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.</Affiliation>
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<Author ValidYN="Y">
<LastName>Lindblom</LastName>
<ForeName>Annika</ForeName>
<Initials>A</Initials>
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<Affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.</Affiliation>
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<Author ValidYN="Y">
<LastName>Margolin</LastName>
<ForeName>Sara</ForeName>
<Initials>S</Initials>
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<Affiliation>Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.</Affiliation>
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<Author ValidYN="Y">
<LastName>Mannermaa</LastName>
<ForeName>Arto</ForeName>
<Initials>A</Initials>
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<Affiliation>Cancer Center, Kuopio University Hospital, Kuopio, Finland.</Affiliation>
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<Affiliation>Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.</Affiliation>
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<Affiliation>Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.</Affiliation>
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<Author ValidYN="Y">
<LastName>Kosma</LastName>
<ForeName>Veli-Matti</ForeName>
<Initials>VM</Initials>
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<Affiliation>Cancer Center, Kuopio University Hospital, Kuopio, Finland.</Affiliation>
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<Affiliation>Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.</Affiliation>
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<Affiliation>Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.</Affiliation>
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<Author ValidYN="Y">
<LastName>Chenevix-Trench</LastName>
<ForeName>Georgia</ForeName>
<Initials>G</Initials>
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<Affiliation>Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</Affiliation>
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<CollectiveName>kConFab/AOCS Investigators</CollectiveName>
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<Author ValidYN="Y">
<LastName>Wu</LastName>
<ForeName>Anna H</ForeName>
<Initials>AH</Initials>
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<Affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</Affiliation>
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<Author ValidYN="Y">
<LastName>Ven den Berg</LastName>
<ForeName>David</ForeName>
<Initials>D</Initials>
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<Affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</Affiliation>
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<Author ValidYN="Y">
<LastName>Smeets</LastName>
<ForeName>Ann</ForeName>
<Initials>A</Initials>
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<Affiliation>University Hospital Gashuisberg, Leuven, Belgium.</Affiliation>
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<Author ValidYN="Y">
<LastName>Zhao</LastName>
<ForeName>Hui</ForeName>
<Initials>H</Initials>
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<Affiliation>Vesalius Research Center, Leuven, Belgium.</Affiliation>
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<Affiliation>Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.</Affiliation>
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<Author ValidYN="Y">
<LastName>Chang-Claude</LastName>
<ForeName>Jenny</ForeName>
<Initials>J</Initials>
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<Affiliation>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.</Affiliation>
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<Affiliation>University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</Affiliation>
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<Author ValidYN="Y">
<LastName>Rudolph</LastName>
<ForeName>Anja</ForeName>
<Initials>A</Initials>
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<Affiliation>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.</Affiliation>
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<Author ValidYN="Y">
<LastName>Radice</LastName>
<ForeName>Paolo</ForeName>
<Initials>P</Initials>
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<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.</Affiliation>
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<LastName>Barile</LastName>
<ForeName>Monica</ForeName>
<Initials>M</Initials>
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<Affiliation>Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.</Affiliation>
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<LastName>Couch</LastName>
<ForeName>Fergus J</ForeName>
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<Affiliation>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America.</Affiliation>
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<LastName>Vachon</LastName>
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<Initials>C</Initials>
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<Affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.</Affiliation>
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<ForeName>Graham G</ForeName>
<Initials>GG</Initials>
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<Affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</Affiliation>
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<Affiliation>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.</Affiliation>
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<Author ValidYN="Y">
<LastName>Milne</LastName>
<ForeName>Roger L</ForeName>
<Initials>RL</Initials>
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<Affiliation>Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.</Affiliation>
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<Affiliation>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.</Affiliation>
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<Author ValidYN="Y">
<LastName>Haiman</LastName>
<ForeName>Christopher A</ForeName>
<Initials>CA</Initials>
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<Affiliation>Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.</Affiliation>
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<Author ValidYN="Y">
<LastName>Marchand</LastName>
<ForeName>Loic Le</ForeName>
<Initials>LL</Initials>
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<Affiliation>University of Hawaii Cancer Center, Honolulu, HI, United States of America.</Affiliation>
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<LastName>Goldberg</LastName>
<ForeName>Mark S</ForeName>
<Initials>MS</Initials>
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<Affiliation>Department of Medicine, McGill University, Montreal, Canada.</Affiliation>
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<Affiliation>Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, Canada.</Affiliation>
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<LastName>Teo</LastName>
<ForeName>Soo H</ForeName>
<Initials>SH</Initials>
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<Affiliation>Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.</Affiliation>
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<Affiliation>Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, KualaLumpur, Malaysia.</Affiliation>
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<Initials>NA</Initials>
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<Affiliation>Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, KualaLumpur, Malaysia.</Affiliation>
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<ForeName>Vessela</ForeName>
<Initials>V</Initials>
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<Affiliation>Department of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.</Affiliation>
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<Affiliation>Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.</Affiliation>
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<Affiliation>Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, Oslo, Norway.</Affiliation>
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<Author ValidYN="Y">
<LastName>Borresen-Dale</LastName>
<ForeName>Anne-Lise</ForeName>
<Initials>AL</Initials>
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<Affiliation>Department of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.</Affiliation>
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<Affiliation>Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.</Affiliation>
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<Author ValidYN="Y">
<LastName>Zheng</LastName>
<ForeName>Wei</ForeName>
<Initials>W</Initials>
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<Affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</Affiliation>
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<Initials>M</Initials>
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<Affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</Affiliation>
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<ForeName>Robert</ForeName>
<Initials>R</Initials>
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<Affiliation>Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation>
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<Affiliation>Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland.</Affiliation>
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<Author ValidYN="Y">
<LastName>Jukkola-Vuorinen</LastName>
<ForeName>Arja</ForeName>
<Initials>A</Initials>
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<Affiliation>Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.</Affiliation>
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<Author ValidYN="Y">
<LastName>Andrulis</LastName>
<ForeName>Irene L</ForeName>
<Initials>IL</Initials>
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<Affiliation>Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</Affiliation>
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<Affiliation>Department of Molecular Genetics, University of Toronto, Toronto, Canada.</Affiliation>
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<LastName>Knight</LastName>
<ForeName>Julia A</ForeName>
<Initials>JA</Initials>
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<Affiliation>Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.</Affiliation>
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<Affiliation>Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.</Affiliation>
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<Author ValidYN="Y">
<LastName>Devilee</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
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<Affiliation>Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.</Affiliation>
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<Affiliation>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.</Affiliation>
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<Author ValidYN="Y">
<LastName>Seynaeve</LastName>
<ForeName>Caroline</ForeName>
<Initials>C</Initials>
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<Affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</Affiliation>
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<Affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.</Affiliation>
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<Affiliation>Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.</Affiliation>
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<ForeName>Kamila</ForeName>
<Initials>K</Initials>
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<Affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</Affiliation>
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<LastName>Darabi</LastName>
<ForeName>Hatef</ForeName>
<Initials>H</Initials>
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<Affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</Affiliation>
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<LastName>Hollestelle</LastName>
<ForeName>Antoinette</ForeName>
<Initials>A</Initials>
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<Affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</Affiliation>
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<ForeName>John W M</ForeName>
<Initials>JW</Initials>
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<Affiliation>Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.</Affiliation>
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<LastName>Li</LastName>
<ForeName>Jingmei</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</Affiliation>
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<LastName>Lu</LastName>
<ForeName>Wei</ForeName>
<Initials>W</Initials>
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<Affiliation>Shanghai Center for Disease Control and Prevention, Shanghai, China.</Affiliation>
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<Author ValidYN="Y">
<LastName>Shu</LastName>
<ForeName>Xiao-Ou</ForeName>
<Initials>XO</Initials>
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<Affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</Affiliation>
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<LastName>Cox</LastName>
<ForeName>Angela</ForeName>
<Initials>A</Initials>
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<Affiliation>Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.</Affiliation>
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<ForeName>Simon S</ForeName>
<Initials>SS</Initials>
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<Affiliation>Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.</Affiliation>
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<Author ValidYN="Y">
<LastName>Blot</LastName>
<ForeName>William</ForeName>
<Initials>W</Initials>
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<Affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</Affiliation>
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<Affiliation>International Epidemiology Institute, Rockville, MD, United States of America.</Affiliation>
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<Affiliation>Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.</Affiliation>
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<Initials>M</Initials>
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<Affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</Affiliation>
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<ForeName>Craig</ForeName>
<Initials>C</Initials>
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<Affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</Affiliation>
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<ForeName>Caroline</ForeName>
<Initials>C</Initials>
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<Affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</Affiliation>
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<ForeName>Patricia</ForeName>
<Initials>P</Initials>
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<Affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</Affiliation>
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<ForeName>Daehee</ForeName>
<Initials>D</Initials>
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<Affiliation>Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.</Affiliation>
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<Affiliation>Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.</Affiliation>
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<Affiliation>Cancer Research Institute, Seoul National University, Seoul, Korea.</Affiliation>
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<Author ValidYN="Y">
<LastName>Choi</LastName>
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<Initials>JY</Initials>
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<Affiliation>Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.</Affiliation>
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<Affiliation>Cancer Research Institute, Seoul National University, Seoul, Korea.</Affiliation>
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<Initials>M</Initials>
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<Affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</Affiliation>
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<Initials>KS</Initials>
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<Affiliation>Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.</Affiliation>
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<ForeName>Diana</ForeName>
<Initials>D</Initials>
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<Affiliation>Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.</Affiliation>
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<ForeName>Anna</ForeName>
<Initials>A</Initials>
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<Affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</Affiliation>
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<ForeName>Jan</ForeName>
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<Affiliation>Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.</Affiliation>
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<Initials>D</Initials>
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<Initials>CY</Initials>
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<Affiliation>School of Public Health, China Medical University, Taichung, Taiwan.</Affiliation>
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<Initials>MF</Initials>
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<Affiliation>Cancer Center and Department of Surgery, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.</Affiliation>
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<Affiliation>Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.</Affiliation>
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<Affiliation>Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.</Affiliation>
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<Affiliation>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</Affiliation>
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<AffiliationInfo>
<Affiliation>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.</Affiliation>
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