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Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Identifieur interne : 001220 ( Pmc/Corpus ); précédent : 001219; suivant : 001221

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Auteurs : Maya Ghoussaini ; Juliet D. French ; Kyriaki Michailidou ; Silje Nord ; Jonathan Beesley ; Sander Canisus ; Kristine M. Hillman ; Susanne Kaufmann ; Haran Sivakumaran ; Mahdi Moradi Marjaneh ; Jason S. Lee ; Joe Dennis ; Manjeet K. Bolla ; Qin Wang ; Ed Dicks ; Roger L. Milne ; 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 ; M. Rosario Alonso ; Guillermo Pita ; Susan L. Neuhausen ; Hoda Anton-Culver ; Hermann Brenner ; Volker Arndt ; Alfons Meindl ; Rita K. Schmutzler ; Hiltrud Brauch ; Ute Hamann ; Daniel C. Tessier ; Daniel Vincent ; Heli Nevanlinna ; Sofia Khan ; Keitaro Matsuo ; Hidemi Ito ; Thilo Dörk ; Natalia V. Bogdanova ; Annika Lindblom ; Sara Margolin ; Arto Mannermaa ; Veli-Matti Kosma ; Anna H. Wu ; David Van Den Berg ; Diether Lambrechts ; Giuseppe Floris ; Jenny Chang-Claude ; Anja Rudolph ; Paolo Radice ; Monica Barile ; Fergus J. Couch ; Emily Hallberg ; Graham G. Giles ; Christopher A. Haiman ; Loic Le Marchand ; Mark S. Goldberg ; Soo H. Teo ; Cheng Har Yip ; Anne-Lise Borresen-Dale ; Wei Zheng ; Qiuyin Cai ; Robert Winqvist ; Katri Pylk S ; Irene L. Andrulis ; Peter Devilee ; Rob A. E. M. Tollenaar ; Montserrat García-Closas ; Jonine Figueroa ; Per Hall ; Kamila Czene ; Judith S. Brand ; Hatef Darabi ; Mikael Eriksson ; Maartje J. Hooning ; Linetta B. Koppert ; Jingmei Li ; Xiao-Ou Shu ; Ying Zheng ; Angela Cox ; Simon S. Cross ; Mitul Shah ; Valerie Rhenius ; Ji-Yeob Choi ; Daehee Kang ; Mikael Hartman ; Kee Seng Chia ; Maria Kabisch ; Diana Torres ; Craig Luccarini ; Don M. Conroy ; Anna Jakubowska ; Jan Lubinski ; Suleeporn Sangrajrang ; Paul Brennan ; Curtis Olswold ; Susan Slager ; Chen-Yang Shen ; Ming-Feng Hou ; Anthony Swerdlow ; Minouk J. Schoemaker ; Jacques Simard ; Paul D. P. Pharoah ; Vessela Kristensen ; Georgia Chenevix-Trench ; Douglas F. Easton ; Alison M. Dunning ; Stacey L. Edwards

Source :

RBID : PMC:5065698

Abstract

Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER+) breast cancer (per-g allele OR ER+ = 1.15; 95% CI 1.13–1.18; p = 8.35 × 10−30). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER) breast cancer (lead SNP rs6864776: per-a allele OR ER = 1.10; 95% CI 1.05–1.14; p conditional = 1.44 × 10−12), and a single signal 3 SNP (rs200229088: per-t allele OR ER+ = 1.12; 95% CI 1.09–1.15; p conditional = 1.12 × 10−05). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas MRPS30 plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis.


Url:
DOI: 10.1016/j.ajhg.2016.07.017
PubMed: 27640304
PubMed Central: 5065698

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PMC:5065698

Le document en format XML

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<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
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<name sortKey="French, Juliet D" sort="French, Juliet D" uniqKey="French J" first="Juliet D." last="French">Juliet D. French</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
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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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<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
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<nlm:aff id="aff4">Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus</nlm:aff>
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<name sortKey="Nord, Silje" sort="Nord, Silje" uniqKey="Nord S" first="Silje" last="Nord">Silje Nord</name>
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<nlm:aff id="aff5">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</nlm:aff>
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<name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
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<name sortKey="Canisus, Sander" sort="Canisus, Sander" uniqKey="Canisus S" first="Sander" last="Canisus">Sander Canisus</name>
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<nlm:aff id="aff6">Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</nlm:aff>
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<name sortKey="Hillman, Kristine M" sort="Hillman, Kristine M" uniqKey="Hillman K" first="Kristine M." last="Hillman">Kristine M. Hillman</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
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<name sortKey="Kaufmann, Susanne" sort="Kaufmann, Susanne" uniqKey="Kaufmann S" first="Susanne" last="Kaufmann">Susanne Kaufmann</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
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<name sortKey="Sivakumaran, Haran" sort="Sivakumaran, Haran" uniqKey="Sivakumaran H" first="Haran" last="Sivakumaran">Haran Sivakumaran</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
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<author>
<name sortKey="Moradi Marjaneh, Mahdi" sort="Moradi Marjaneh, Mahdi" uniqKey="Moradi Marjaneh M" first="Mahdi" last="Moradi Marjaneh">Mahdi Moradi Marjaneh</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
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<author>
<name sortKey="Lee, Jason S" sort="Lee, Jason S" uniqKey="Lee J" first="Jason S." last="Lee">Jason S. Lee</name>
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<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
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<author>
<name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
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<author>
<name sortKey="Dicks, Ed" sort="Dicks, Ed" uniqKey="Dicks E" first="Ed" last="Dicks">Ed Dicks</name>
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<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name>
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<nlm:aff id="aff7">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff8">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
<affiliation>
<nlm:aff id="aff8">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
<affiliation>
<nlm:aff id="aff9">Department of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K." last="Schmidt">Marjanka K. Schmidt</name>
<affiliation>
<nlm:aff id="aff6">Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Broeks, Annegien" sort="Broeks, Annegien" uniqKey="Broeks A" first="Annegien" last="Broeks">Annegien Broeks</name>
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<nlm:aff id="aff6">Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</nlm:aff>
</affiliation>
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<author>
<name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name>
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<nlm:aff id="aff10">Institute of Population Health, University of Manchester, Manchester M13 9PL, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff11">Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name>
<affiliation>
<nlm:aff id="aff10">Institute of Population Health, University of Manchester, Manchester M13 9PL, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff11">Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A." last="Fasching">Peter A. Fasching</name>
<affiliation>
<nlm:aff id="aff12">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff13">David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA 90095, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Beckmann, Matthias W" sort="Beckmann, Matthias W" uniqKey="Beckmann M" first="Matthias W." last="Beckmann">Matthias W. Beckmann</name>
<affiliation>
<nlm:aff id="aff12">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name>
<affiliation>
<nlm:aff id="aff14">Toby Robins Breast Cancer Now Research Centre, The Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff15">Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<affiliation>
<nlm:aff id="aff14">Toby Robins Breast Cancer Now Research Centre, The Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff15">Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J." last="Sawyer">Elinor J. Sawyer</name>
<affiliation>
<nlm:aff id="aff16">Research Oncology, Guy’s Hospital, King’s College London, London SE1 9RT, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name>
<affiliation>
<nlm:aff id="aff17">Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<affiliation>
<nlm:aff id="aff18">Department of Obstetrics and Gynecology, University of Heidelberg, 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff19">Molecular Epidemiology Group, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name>
<affiliation>
<nlm:aff id="aff18">Department of Obstetrics and Gynecology, University of Heidelberg, 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff20">National Center for Tumor Diseases, University of Heidelberg, 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name>
<affiliation>
<nlm:aff id="aff21">Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94807 Villejuif, France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name>
<affiliation>
<nlm:aff id="aff21">Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94807 Villejuif, France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<affiliation>
<nlm:aff id="aff22">Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff23">Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff24">Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
<affiliation>
<nlm:aff id="aff25">Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name>
<affiliation>
<nlm:aff id="aff26">Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff27">Centro de Investigación en Red de Enfermedades Raras, 46010 Valencia, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Gonzalez Neira, Anna" sort="Gonzalez Neira, Anna" uniqKey="Gonzalez Neira A" first="Anna" last="González-Neira">Anna González-Neira</name>
<affiliation>
<nlm:aff id="aff26">Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Alonso, M Rosario" sort="Alonso, M Rosario" uniqKey="Alonso M" first="M. Rosario" last="Alonso">M. Rosario Alonso</name>
<affiliation>
<nlm:aff id="aff28">Human Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pita, Guillermo" sort="Pita, Guillermo" uniqKey="Pita G" first="Guillermo" last="Pita">Guillermo Pita</name>
<affiliation>
<nlm:aff id="aff28">Human Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name>
<affiliation>
<nlm:aff id="aff29">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA 92697, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name>
<affiliation>
<nlm:aff id="aff30">Department of Epidemiology, University of California Irvine, Irvine, CA 92697, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name>
<affiliation>
<nlm:aff id="aff31">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff32">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff33">Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name>
<affiliation>
<nlm:aff id="aff31">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name>
<affiliation>
<nlm:aff id="aff34">Division of Gynaecology and Obstetrics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name>
<affiliation>
<nlm:aff id="aff35">Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, 50931 Cologne, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff36">Center for Integrated Oncology (CIO), University Hospital of Cologne, 50937 Cologne, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff37">Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name>
<affiliation>
<nlm:aff id="aff32">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff38">Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376 Stuttgart, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff39">University of Tübingen, 72074 Tübingen, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
<affiliation>
<nlm:aff id="aff40">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tessier, Daniel C" sort="Tessier, Daniel C" uniqKey="Tessier D" first="Daniel C." last="Tessier">Daniel C. Tessier</name>
<affiliation>
<nlm:aff id="aff41">McGill University and Génome Québec Innovation Centre, Montréal, QC H3A OG1, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Vincent, Daniel" sort="Vincent, Daniel" uniqKey="Vincent D" first="Daniel" last="Vincent">Daniel Vincent</name>
<affiliation>
<nlm:aff id="aff41">McGill University and Génome Québec Innovation Centre, Montréal, QC H3A OG1, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name>
<affiliation>
<nlm:aff id="aff42">Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, 00029 Helsinki, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name>
<affiliation>
<nlm:aff id="aff42">Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, 00029 Helsinki, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name>
<affiliation>
<nlm:aff id="aff43">Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Ito, Hidemi" sort="Ito, Hidemi" uniqKey="Ito H" first="Hidemi" last="Ito">Hidemi Ito</name>
<affiliation>
<nlm:aff id="aff44">Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name>
<affiliation>
<nlm:aff id="aff45">Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bogdanova, Natalia V" sort="Bogdanova, Natalia V" uniqKey="Bogdanova N" first="Natalia V." last="Bogdanova">Natalia V. Bogdanova</name>
<affiliation>
<nlm:aff id="aff45">Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff46">Department of Radiation Oncology, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
<affiliation>
<nlm:aff id="aff47">Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
<affiliation>
<nlm:aff id="aff48">Department of Oncology-Pathology, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name>
<affiliation>
<nlm:aff id="aff49">Cancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff50">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff51">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70210 Kuopio, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kosma, Veli Matti" sort="Kosma, Veli Matti" uniqKey="Kosma V" first="Veli-Matti" last="Kosma">Veli-Matti Kosma</name>
<affiliation>
<nlm:aff id="aff49">Cancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff50">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff51">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70210 Kuopio, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Wu, Anna H" sort="Wu, Anna H" uniqKey="Wu A" first="Anna H." last="Wu">Anna H. Wu</name>
<affiliation>
<nlm:aff id="aff52">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Van Den Berg, David" sort="Van Den Berg, David" uniqKey="Van Den Berg D" first="David" last="Van Den Berg">David Van Den Berg</name>
<affiliation>
<nlm:aff id="aff52">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lambrechts, Diether" sort="Lambrechts, Diether" uniqKey="Lambrechts D" first="Diether" last="Lambrechts">Diether Lambrechts</name>
<affiliation>
<nlm:aff id="aff53">Vesalius Research Center, VIB, 3000 Leuven, Belgium</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff54">Laboratory for Translational Genetics, Department of Oncology, University of Leuven, 3000 Leuven, Belgium</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Floris, Giuseppe" sort="Floris, Giuseppe" uniqKey="Floris G" first="Giuseppe" last="Floris">Giuseppe Floris</name>
<affiliation>
<nlm:aff id="aff55">University Hospital Gashuisberg, 3000 Leuven, Belgium</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name>
<affiliation>
<nlm:aff id="aff56">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff57">University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<affiliation>
<nlm:aff id="aff56">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
<affiliation>
<nlm:aff id="aff58">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), 20133 Milan, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name>
<affiliation>
<nlm:aff id="aff59">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, 20141 Milan, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<affiliation>
<nlm:aff id="aff60">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name>
<affiliation>
<nlm:aff id="aff61">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<affiliation>
<nlm:aff id="aff7">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff8">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Haiman, Christopher A" sort="Haiman, Christopher A" uniqKey="Haiman C" first="Christopher A." last="Haiman">Christopher A. Haiman</name>
<affiliation>
<nlm:aff id="aff52">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Le Marchand, Loic" sort="Le Marchand, Loic" uniqKey="Le Marchand L" first="Loic" last="Le Marchand">Loic Le Marchand</name>
<affiliation>
<nlm:aff id="aff62">University of Hawaii Cancer Center, Honolulu, HI 96813, USA</nlm:aff>
</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:aff id="aff63">Department of Medicine, McGill University, Montreal, QC H3G 2M1, Canada</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff64">Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, QC H3A 1A8, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Teo, Soo H" sort="Teo, Soo H" uniqKey="Teo S" first="Soo H." last="Teo">Soo H. Teo</name>
<affiliation>
<nlm:aff id="aff65">Cancer Research Initiatives Foundation, Subang Jaya, 47500 Selangor, Malaysia</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff66">Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Yip, Cheng Har" sort="Yip, Cheng Har" uniqKey="Yip C" first="Cheng Har" last="Yip">Cheng Har Yip</name>
<affiliation>
<nlm:aff id="aff66">Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia</nlm:aff>
</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:aff id="aff5">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name>
<affiliation>
<nlm:aff id="aff67">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Cai, Qiuyin" sort="Cai, Qiuyin" uniqKey="Cai Q" first="Qiuyin" last="Cai">Qiuyin Cai</name>
<affiliation>
<nlm:aff id="aff67">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name>
<affiliation>
<nlm:aff id="aff68">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff69">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pylk S, Katri" sort="Pylk S, Katri" uniqKey="Pylk S K" first="Katri" last="Pylk S">Katri Pylk S</name>
<affiliation>
<nlm:aff id="aff68">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff69">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<affiliation>
<nlm:aff id="aff70">Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff71">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation>
<nlm:aff id="aff72">Department of Pathology, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff73">Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tollenaar, Rob A E M" sort="Tollenaar, Rob A E M" uniqKey="Tollenaar R" first="Rob A. E. M." last="Tollenaar">Rob A. E. M. Tollenaar</name>
<affiliation>
<nlm:aff id="aff74">Department of Surgery, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Garcia Closas, Montserrat" sort="Garcia Closas, Montserrat" uniqKey="Garcia Closas M" first="Montserrat" last="García-Closas">Montserrat García-Closas</name>
<affiliation>
<nlm:aff id="aff75">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Figueroa, Jonine" sort="Figueroa, Jonine" uniqKey="Figueroa J" first="Jonine" last="Figueroa">Jonine Figueroa</name>
<affiliation>
<nlm:aff id="aff75">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff76">Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brand, Judith S" sort="Brand, Judith S" uniqKey="Brand J" first="Judith S." last="Brand">Judith S. Brand</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Eriksson, Mikael" sort="Eriksson, Mikael" uniqKey="Eriksson M" first="Mikael" last="Eriksson">Mikael Eriksson</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name>
<affiliation>
<nlm:aff id="aff78">Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Koppert, Linetta B" sort="Koppert, Linetta B" uniqKey="Koppert L" first="Linetta B." last="Koppert">Linetta B. Koppert</name>
<affiliation>
<nlm:aff id="aff79">Department of Surgical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Li, Jingmei" sort="Li, Jingmei" uniqKey="Li J" first="Jingmei" last="Li">Jingmei Li</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Shu, Xiao Ou" sort="Shu, Xiao Ou" uniqKey="Shu X" first="Xiao-Ou" last="Shu">Xiao-Ou Shu</name>
<affiliation>
<nlm:aff id="aff67">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Zheng, Ying" sort="Zheng, Ying" uniqKey="Zheng Y" first="Ying" last="Zheng">Ying Zheng</name>
<affiliation>
<nlm:aff id="aff80">Shanghai Municipal Center for Disease Control and Prevention, 200336 Shanghai, China</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name>
<affiliation>
<nlm:aff id="aff81">Sheffield Cancer Research, Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Cross, Simon S" sort="Cross, Simon S" uniqKey="Cross S" first="Simon S." last="Cross">Simon S. Cross</name>
<affiliation>
<nlm:aff id="aff82">Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rhenius, Valerie" sort="Rhenius, Valerie" uniqKey="Rhenius V" first="Valerie" last="Rhenius">Valerie Rhenius</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Choi, Ji Yeob" sort="Choi, Ji Yeob" uniqKey="Choi J" first="Ji-Yeob" last="Choi">Ji-Yeob Choi</name>
<affiliation>
<nlm:aff id="aff83">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799, Korea</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff84">Cancer Research Institute, Seoul National University, Seoul 110-799, Korea</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name>
<affiliation>
<nlm:aff id="aff83">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799, Korea</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff84">Cancer Research Institute, Seoul National University, Seoul 110-799, Korea</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff85">Department of Preventive Medicine, Seoul National University College of Medicine, Seoul 110-799, Korea</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name>
<affiliation>
<nlm:aff id="aff86">Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff87">Department of Surgery, National University Health System, Singapore 117597, Singapore</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Chia, Kee Seng" sort="Chia, Kee Seng" uniqKey="Chia K" first="Kee Seng" last="Chia">Kee Seng Chia</name>
<affiliation>
<nlm:aff id="aff86">Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name>
<affiliation>
<nlm:aff id="aff40">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Torres, Diana" sort="Torres, Diana" uniqKey="Torres D" first="Diana" last="Torres">Diana Torres</name>
<affiliation>
<nlm:aff id="aff40">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff88">Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, DC 11001000, Colombia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Luccarini, Craig" sort="Luccarini, Craig" uniqKey="Luccarini C" first="Craig" last="Luccarini">Craig Luccarini</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Conroy, Don M" sort="Conroy, Don M" uniqKey="Conroy D" first="Don M." last="Conroy">Don M. Conroy</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name>
<affiliation>
<nlm:aff id="aff89">Department of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name>
<affiliation>
<nlm:aff id="aff89">Department of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name>
<affiliation>
<nlm:aff id="aff90">National Cancer Institute, Bangkok 10400, Thailand</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brennan, Paul" sort="Brennan, Paul" uniqKey="Brennan P" first="Paul" last="Brennan">Paul Brennan</name>
<affiliation>
<nlm:aff id="aff91">International Agency for Research on Cancer, Lyon Cedex 08, France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name>
<affiliation>
<nlm:aff id="aff62">University of Hawaii Cancer Center, Honolulu, HI 96813, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name>
<affiliation>
<nlm:aff id="aff62">University of Hawaii Cancer Center, Honolulu, HI 96813, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name>
<affiliation>
<nlm:aff id="aff92">School of Public Health, China Medical University, Taichung 40402, Taiwan</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff93">Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hou, Ming Feng" sort="Hou, Ming Feng" uniqKey="Hou M" first="Ming-Feng" last="Hou">Ming-Feng Hou</name>
<affiliation>
<nlm:aff id="aff94">Department of Surgery, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung 812, Taiwan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name>
<affiliation>
<nlm:aff id="aff15">Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff95">Division of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schoemaker, Minouk J" sort="Schoemaker, Minouk J" uniqKey="Schoemaker M" first="Minouk J." last="Schoemaker">Minouk J. Schoemaker</name>
<affiliation>
<nlm:aff id="aff95">Division of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
<affiliation>
<nlm:aff id="aff96">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, QC G1V 4G2, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D. P." last="Pharoah">Paul D. P. Pharoah</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name>
<affiliation>
<nlm:aff id="aff5">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff97">Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, 0450 Oslo, Norway</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Edwards, Stacey L" sort="Edwards, Stacey L" uniqKey="Edwards S" first="Stacey L." last="Edwards">Stacey L. Edwards</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
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<idno type="doi">10.1016/j.ajhg.2016.07.017</idno>
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<title xml:lang="en" level="a" type="main">Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
Regulation</title>
<author>
<name sortKey="Ghoussaini, Maya" sort="Ghoussaini, Maya" uniqKey="Ghoussaini M" first="Maya" last="Ghoussaini">Maya Ghoussaini</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="French, Juliet D" sort="French, Juliet D" uniqKey="French J" first="Juliet D." last="French">Juliet D. French</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff4">Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Nord, Silje" sort="Nord, Silje" uniqKey="Nord S" first="Silje" last="Nord">Silje Nord</name>
<affiliation>
<nlm:aff id="aff5">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Canisus, Sander" sort="Canisus, Sander" uniqKey="Canisus S" first="Sander" last="Canisus">Sander Canisus</name>
<affiliation>
<nlm:aff id="aff6">Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hillman, Kristine M" sort="Hillman, Kristine M" uniqKey="Hillman K" first="Kristine M." last="Hillman">Kristine M. Hillman</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kaufmann, Susanne" sort="Kaufmann, Susanne" uniqKey="Kaufmann S" first="Susanne" last="Kaufmann">Susanne Kaufmann</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sivakumaran, Haran" sort="Sivakumaran, Haran" uniqKey="Sivakumaran H" first="Haran" last="Sivakumaran">Haran Sivakumaran</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Moradi Marjaneh, Mahdi" sort="Moradi Marjaneh, Mahdi" uniqKey="Moradi Marjaneh M" first="Mahdi" last="Moradi Marjaneh">Mahdi Moradi Marjaneh</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lee, Jason S" sort="Lee, Jason S" uniqKey="Lee J" first="Jason S." last="Lee">Jason S. Lee</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Dicks, Ed" sort="Dicks, Ed" uniqKey="Dicks E" first="Ed" last="Dicks">Ed Dicks</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name>
<affiliation>
<nlm:aff id="aff7">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff8">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
<affiliation>
<nlm:aff id="aff8">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
<affiliation>
<nlm:aff id="aff9">Department of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schmidt, Marjanka K" sort="Schmidt, Marjanka K" uniqKey="Schmidt M" first="Marjanka K." last="Schmidt">Marjanka K. Schmidt</name>
<affiliation>
<nlm:aff id="aff6">Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Broeks, Annegien" sort="Broeks, Annegien" uniqKey="Broeks A" first="Annegien" last="Broeks">Annegien Broeks</name>
<affiliation>
<nlm:aff id="aff6">Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Muir, Kenneth" sort="Muir, Kenneth" uniqKey="Muir K" first="Kenneth" last="Muir">Kenneth Muir</name>
<affiliation>
<nlm:aff id="aff10">Institute of Population Health, University of Manchester, Manchester M13 9PL, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff11">Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lophatananon, Artitaya" sort="Lophatananon, Artitaya" uniqKey="Lophatananon A" first="Artitaya" last="Lophatananon">Artitaya Lophatananon</name>
<affiliation>
<nlm:aff id="aff10">Institute of Population Health, University of Manchester, Manchester M13 9PL, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff11">Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Fasching, Peter A" sort="Fasching, Peter A" uniqKey="Fasching P" first="Peter A." last="Fasching">Peter A. Fasching</name>
<affiliation>
<nlm:aff id="aff12">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff13">David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA 90095, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Beckmann, Matthias W" sort="Beckmann, Matthias W" uniqKey="Beckmann M" first="Matthias W." last="Beckmann">Matthias W. Beckmann</name>
<affiliation>
<nlm:aff id="aff12">Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Fletcher, Olivia" sort="Fletcher, Olivia" uniqKey="Fletcher O" first="Olivia" last="Fletcher">Olivia Fletcher</name>
<affiliation>
<nlm:aff id="aff14">Toby Robins Breast Cancer Now Research Centre, The Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff15">Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<affiliation>
<nlm:aff id="aff14">Toby Robins Breast Cancer Now Research Centre, The Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff15">Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sawyer, Elinor J" sort="Sawyer, Elinor J" uniqKey="Sawyer E" first="Elinor J." last="Sawyer">Elinor J. Sawyer</name>
<affiliation>
<nlm:aff id="aff16">Research Oncology, Guy’s Hospital, King’s College London, London SE1 9RT, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name>
<affiliation>
<nlm:aff id="aff17">Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<affiliation>
<nlm:aff id="aff18">Department of Obstetrics and Gynecology, University of Heidelberg, 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff19">Molecular Epidemiology Group, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Marme, Frederik" sort="Marme, Frederik" uniqKey="Marme F" first="Frederik" last="Marme">Frederik Marme</name>
<affiliation>
<nlm:aff id="aff18">Department of Obstetrics and Gynecology, University of Heidelberg, 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff20">National Center for Tumor Diseases, University of Heidelberg, 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Guenel, Pascal" sort="Guenel, Pascal" uniqKey="Guenel P" first="Pascal" last="Guénel">Pascal Guénel</name>
<affiliation>
<nlm:aff id="aff21">Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94807 Villejuif, France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Truong, Therese" sort="Truong, Therese" uniqKey="Truong T" first="Thérèse" last="Truong">Thérèse Truong</name>
<affiliation>
<nlm:aff id="aff21">Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94807 Villejuif, France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<affiliation>
<nlm:aff id="aff22">Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff23">Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff24">Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
<affiliation>
<nlm:aff id="aff25">Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name>
<affiliation>
<nlm:aff id="aff26">Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff27">Centro de Investigación en Red de Enfermedades Raras, 46010 Valencia, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Gonzalez Neira, Anna" sort="Gonzalez Neira, Anna" uniqKey="Gonzalez Neira A" first="Anna" last="González-Neira">Anna González-Neira</name>
<affiliation>
<nlm:aff id="aff26">Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Alonso, M Rosario" sort="Alonso, M Rosario" uniqKey="Alonso M" first="M. Rosario" last="Alonso">M. Rosario Alonso</name>
<affiliation>
<nlm:aff id="aff28">Human Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pita, Guillermo" sort="Pita, Guillermo" uniqKey="Pita G" first="Guillermo" last="Pita">Guillermo Pita</name>
<affiliation>
<nlm:aff id="aff28">Human Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name>
<affiliation>
<nlm:aff id="aff29">Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA 92697, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Anton Culver, Hoda" sort="Anton Culver, Hoda" uniqKey="Anton Culver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name>
<affiliation>
<nlm:aff id="aff30">Department of Epidemiology, University of California Irvine, Irvine, CA 92697, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brenner, Hermann" sort="Brenner, Hermann" uniqKey="Brenner H" first="Hermann" last="Brenner">Hermann Brenner</name>
<affiliation>
<nlm:aff id="aff31">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff32">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff33">Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Arndt, Volker" sort="Arndt, Volker" uniqKey="Arndt V" first="Volker" last="Arndt">Volker Arndt</name>
<affiliation>
<nlm:aff id="aff31">Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name>
<affiliation>
<nlm:aff id="aff34">Division of Gynaecology and Obstetrics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name>
<affiliation>
<nlm:aff id="aff35">Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, 50931 Cologne, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff36">Center for Integrated Oncology (CIO), University Hospital of Cologne, 50937 Cologne, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff37">Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name>
<affiliation>
<nlm:aff id="aff32">German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff38">Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376 Stuttgart, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff39">University of Tübingen, 72074 Tübingen, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
<affiliation>
<nlm:aff id="aff40">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tessier, Daniel C" sort="Tessier, Daniel C" uniqKey="Tessier D" first="Daniel C." last="Tessier">Daniel C. Tessier</name>
<affiliation>
<nlm:aff id="aff41">McGill University and Génome Québec Innovation Centre, Montréal, QC H3A OG1, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Vincent, Daniel" sort="Vincent, Daniel" uniqKey="Vincent D" first="Daniel" last="Vincent">Daniel Vincent</name>
<affiliation>
<nlm:aff id="aff41">McGill University and Génome Québec Innovation Centre, Montréal, QC H3A OG1, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name>
<affiliation>
<nlm:aff id="aff42">Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, 00029 Helsinki, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Khan, Sofia" sort="Khan, Sofia" uniqKey="Khan S" first="Sofia" last="Khan">Sofia Khan</name>
<affiliation>
<nlm:aff id="aff42">Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, 00029 Helsinki, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Matsuo, Keitaro" sort="Matsuo, Keitaro" uniqKey="Matsuo K" first="Keitaro" last="Matsuo">Keitaro Matsuo</name>
<affiliation>
<nlm:aff id="aff43">Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Ito, Hidemi" sort="Ito, Hidemi" uniqKey="Ito H" first="Hidemi" last="Ito">Hidemi Ito</name>
<affiliation>
<nlm:aff id="aff44">Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Dork, Thilo" sort="Dork, Thilo" uniqKey="Dork T" first="Thilo" last="Dörk">Thilo Dörk</name>
<affiliation>
<nlm:aff id="aff45">Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bogdanova, Natalia V" sort="Bogdanova, Natalia V" uniqKey="Bogdanova N" first="Natalia V." last="Bogdanova">Natalia V. Bogdanova</name>
<affiliation>
<nlm:aff id="aff45">Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff46">Department of Radiation Oncology, Hannover Medical School, 30625 Hannover, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
<affiliation>
<nlm:aff id="aff47">Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
<affiliation>
<nlm:aff id="aff48">Department of Oncology-Pathology, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Mannermaa, Arto" sort="Mannermaa, Arto" uniqKey="Mannermaa A" first="Arto" last="Mannermaa">Arto Mannermaa</name>
<affiliation>
<nlm:aff id="aff49">Cancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff50">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff51">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70210 Kuopio, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kosma, Veli Matti" sort="Kosma, Veli Matti" uniqKey="Kosma V" first="Veli-Matti" last="Kosma">Veli-Matti Kosma</name>
<affiliation>
<nlm:aff id="aff49">Cancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff50">Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff51">Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70210 Kuopio, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Wu, Anna H" sort="Wu, Anna H" uniqKey="Wu A" first="Anna H." last="Wu">Anna H. Wu</name>
<affiliation>
<nlm:aff id="aff52">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Van Den Berg, David" sort="Van Den Berg, David" uniqKey="Van Den Berg D" first="David" last="Van Den Berg">David Van Den Berg</name>
<affiliation>
<nlm:aff id="aff52">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lambrechts, Diether" sort="Lambrechts, Diether" uniqKey="Lambrechts D" first="Diether" last="Lambrechts">Diether Lambrechts</name>
<affiliation>
<nlm:aff id="aff53">Vesalius Research Center, VIB, 3000 Leuven, Belgium</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff54">Laboratory for Translational Genetics, Department of Oncology, University of Leuven, 3000 Leuven, Belgium</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Floris, Giuseppe" sort="Floris, Giuseppe" uniqKey="Floris G" first="Giuseppe" last="Floris">Giuseppe Floris</name>
<affiliation>
<nlm:aff id="aff55">University Hospital Gashuisberg, 3000 Leuven, Belgium</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name>
<affiliation>
<nlm:aff id="aff56">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff57">University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<affiliation>
<nlm:aff id="aff56">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
<affiliation>
<nlm:aff id="aff58">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), 20133 Milan, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name>
<affiliation>
<nlm:aff id="aff59">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, 20141 Milan, Italy</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<affiliation>
<nlm:aff id="aff60">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name>
<affiliation>
<nlm:aff id="aff61">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<affiliation>
<nlm:aff id="aff7">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff8">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Haiman, Christopher A" sort="Haiman, Christopher A" uniqKey="Haiman C" first="Christopher A." last="Haiman">Christopher A. Haiman</name>
<affiliation>
<nlm:aff id="aff52">Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Le Marchand, Loic" sort="Le Marchand, Loic" uniqKey="Le Marchand L" first="Loic" last="Le Marchand">Loic Le Marchand</name>
<affiliation>
<nlm:aff id="aff62">University of Hawaii Cancer Center, Honolulu, HI 96813, USA</nlm:aff>
</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:aff id="aff63">Department of Medicine, McGill University, Montreal, QC H3G 2M1, Canada</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff64">Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, QC H3A 1A8, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Teo, Soo H" sort="Teo, Soo H" uniqKey="Teo S" first="Soo H." last="Teo">Soo H. Teo</name>
<affiliation>
<nlm:aff id="aff65">Cancer Research Initiatives Foundation, Subang Jaya, 47500 Selangor, Malaysia</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff66">Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Yip, Cheng Har" sort="Yip, Cheng Har" uniqKey="Yip C" first="Cheng Har" last="Yip">Cheng Har Yip</name>
<affiliation>
<nlm:aff id="aff66">Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia</nlm:aff>
</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:aff id="aff5">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Zheng, Wei" sort="Zheng, Wei" uniqKey="Zheng W" first="Wei" last="Zheng">Wei Zheng</name>
<affiliation>
<nlm:aff id="aff67">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Cai, Qiuyin" sort="Cai, Qiuyin" uniqKey="Cai Q" first="Qiuyin" last="Cai">Qiuyin Cai</name>
<affiliation>
<nlm:aff id="aff67">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Winqvist, Robert" sort="Winqvist, Robert" uniqKey="Winqvist R" first="Robert" last="Winqvist">Robert Winqvist</name>
<affiliation>
<nlm:aff id="aff68">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff69">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pylk S, Katri" sort="Pylk S, Katri" uniqKey="Pylk S K" first="Katri" last="Pylk S">Katri Pylk S</name>
<affiliation>
<nlm:aff id="aff68">Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff69">Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, 90220 Oulu, Finland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<affiliation>
<nlm:aff id="aff70">Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff71">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation>
<nlm:aff id="aff72">Department of Pathology, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff73">Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tollenaar, Rob A E M" sort="Tollenaar, Rob A E M" uniqKey="Tollenaar R" first="Rob A. E. M." last="Tollenaar">Rob A. E. M. Tollenaar</name>
<affiliation>
<nlm:aff id="aff74">Department of Surgery, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Garcia Closas, Montserrat" sort="Garcia Closas, Montserrat" uniqKey="Garcia Closas M" first="Montserrat" last="García-Closas">Montserrat García-Closas</name>
<affiliation>
<nlm:aff id="aff75">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Figueroa, Jonine" sort="Figueroa, Jonine" uniqKey="Figueroa J" first="Jonine" last="Figueroa">Jonine Figueroa</name>
<affiliation>
<nlm:aff id="aff75">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff76">Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brand, Judith S" sort="Brand, Judith S" uniqKey="Brand J" first="Judith S." last="Brand">Judith S. Brand</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Darabi, Hatef" sort="Darabi, Hatef" uniqKey="Darabi H" first="Hatef" last="Darabi">Hatef Darabi</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Eriksson, Mikael" sort="Eriksson, Mikael" uniqKey="Eriksson M" first="Mikael" last="Eriksson">Mikael Eriksson</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hooning, Maartje J" sort="Hooning, Maartje J" uniqKey="Hooning M" first="Maartje J." last="Hooning">Maartje J. Hooning</name>
<affiliation>
<nlm:aff id="aff78">Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Koppert, Linetta B" sort="Koppert, Linetta B" uniqKey="Koppert L" first="Linetta B." last="Koppert">Linetta B. Koppert</name>
<affiliation>
<nlm:aff id="aff79">Department of Surgical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Li, Jingmei" sort="Li, Jingmei" uniqKey="Li J" first="Jingmei" last="Li">Jingmei Li</name>
<affiliation>
<nlm:aff id="aff77">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Shu, Xiao Ou" sort="Shu, Xiao Ou" uniqKey="Shu X" first="Xiao-Ou" last="Shu">Xiao-Ou Shu</name>
<affiliation>
<nlm:aff id="aff67">Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Zheng, Ying" sort="Zheng, Ying" uniqKey="Zheng Y" first="Ying" last="Zheng">Ying Zheng</name>
<affiliation>
<nlm:aff id="aff80">Shanghai Municipal Center for Disease Control and Prevention, 200336 Shanghai, China</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Cox, Angela" sort="Cox, Angela" uniqKey="Cox A" first="Angela" last="Cox">Angela Cox</name>
<affiliation>
<nlm:aff id="aff81">Sheffield Cancer Research, Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Cross, Simon S" sort="Cross, Simon S" uniqKey="Cross S" first="Simon S." last="Cross">Simon S. Cross</name>
<affiliation>
<nlm:aff id="aff82">Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rhenius, Valerie" sort="Rhenius, Valerie" uniqKey="Rhenius V" first="Valerie" last="Rhenius">Valerie Rhenius</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Choi, Ji Yeob" sort="Choi, Ji Yeob" uniqKey="Choi J" first="Ji-Yeob" last="Choi">Ji-Yeob Choi</name>
<affiliation>
<nlm:aff id="aff83">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799, Korea</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff84">Cancer Research Institute, Seoul National University, Seoul 110-799, Korea</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kang, Daehee" sort="Kang, Daehee" uniqKey="Kang D" first="Daehee" last="Kang">Daehee Kang</name>
<affiliation>
<nlm:aff id="aff83">Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799, Korea</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff84">Cancer Research Institute, Seoul National University, Seoul 110-799, Korea</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff85">Department of Preventive Medicine, Seoul National University College of Medicine, Seoul 110-799, Korea</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hartman, Mikael" sort="Hartman, Mikael" uniqKey="Hartman M" first="Mikael" last="Hartman">Mikael Hartman</name>
<affiliation>
<nlm:aff id="aff86">Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff87">Department of Surgery, National University Health System, Singapore 117597, Singapore</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Chia, Kee Seng" sort="Chia, Kee Seng" uniqKey="Chia K" first="Kee Seng" last="Chia">Kee Seng Chia</name>
<affiliation>
<nlm:aff id="aff86">Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kabisch, Maria" sort="Kabisch, Maria" uniqKey="Kabisch M" first="Maria" last="Kabisch">Maria Kabisch</name>
<affiliation>
<nlm:aff id="aff40">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Torres, Diana" sort="Torres, Diana" uniqKey="Torres D" first="Diana" last="Torres">Diana Torres</name>
<affiliation>
<nlm:aff id="aff40">Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff88">Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, DC 11001000, Colombia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Luccarini, Craig" sort="Luccarini, Craig" uniqKey="Luccarini C" first="Craig" last="Luccarini">Craig Luccarini</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Conroy, Don M" sort="Conroy, Don M" uniqKey="Conroy D" first="Don M." last="Conroy">Don M. Conroy</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name>
<affiliation>
<nlm:aff id="aff89">Department of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lubinski, Jan" sort="Lubinski, Jan" uniqKey="Lubinski J" first="Jan" last="Lubinski">Jan Lubinski</name>
<affiliation>
<nlm:aff id="aff89">Department of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sangrajrang, Suleeporn" sort="Sangrajrang, Suleeporn" uniqKey="Sangrajrang S" first="Suleeporn" last="Sangrajrang">Suleeporn Sangrajrang</name>
<affiliation>
<nlm:aff id="aff90">National Cancer Institute, Bangkok 10400, Thailand</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Brennan, Paul" sort="Brennan, Paul" uniqKey="Brennan P" first="Paul" last="Brennan">Paul Brennan</name>
<affiliation>
<nlm:aff id="aff91">International Agency for Research on Cancer, Lyon Cedex 08, France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Olswold, Curtis" sort="Olswold, Curtis" uniqKey="Olswold C" first="Curtis" last="Olswold">Curtis Olswold</name>
<affiliation>
<nlm:aff id="aff62">University of Hawaii Cancer Center, Honolulu, HI 96813, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Slager, Susan" sort="Slager, Susan" uniqKey="Slager S" first="Susan" last="Slager">Susan Slager</name>
<affiliation>
<nlm:aff id="aff62">University of Hawaii Cancer Center, Honolulu, HI 96813, USA</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Shen, Chen Yang" sort="Shen, Chen Yang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name>
<affiliation>
<nlm:aff id="aff92">School of Public Health, China Medical University, Taichung 40402, Taiwan</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff93">Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hou, Ming Feng" sort="Hou, Ming Feng" uniqKey="Hou M" first="Ming-Feng" last="Hou">Ming-Feng Hou</name>
<affiliation>
<nlm:aff id="aff94">Department of Surgery, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung 812, Taiwan</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Swerdlow, Anthony" sort="Swerdlow, Anthony" uniqKey="Swerdlow A" first="Anthony" last="Swerdlow">Anthony Swerdlow</name>
<affiliation>
<nlm:aff id="aff15">Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff95">Division of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schoemaker, Minouk J" sort="Schoemaker, Minouk J" uniqKey="Schoemaker M" first="Minouk J." last="Schoemaker">Minouk J. Schoemaker</name>
<affiliation>
<nlm:aff id="aff95">Division of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
<affiliation>
<nlm:aff id="aff96">Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, QC G1V 4G2, Canada</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D. P." last="Pharoah">Paul D. P. Pharoah</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kristensen, Vessela" sort="Kristensen, Vessela" uniqKey="Kristensen V" first="Vessela" last="Kristensen">Vessela Kristensen</name>
<affiliation>
<nlm:aff id="aff5">Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff97">Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, 0450 Oslo, Norway</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
<affiliation>
<nlm:aff id="aff3">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M." last="Dunning">Alison M. Dunning</name>
<affiliation>
<nlm:aff id="aff1">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Edwards, Stacey L" sort="Edwards, Stacey L" uniqKey="Edwards S" first="Stacey L." last="Edwards">Stacey L. Edwards</name>
<affiliation>
<nlm:aff id="aff2">Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
</affiliation>
</author>
</analytic>
<series>
<title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint>
<date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER
<sup>+</sup>
) breast cancer (per-
<italic>g</italic>
allele OR ER
<sup>+</sup>
= 1.15; 95% CI 1.13–1.18; p = 8.35 × 10
<sup>−30</sup>
). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER
<sup></sup>
) breast cancer (lead SNP rs6864776: per-
<italic>a</italic>
allele OR ER
<sup></sup>
= 1.10; 95% CI 1.05–1.14; p conditional = 1.44 × 10
<sup>−12</sup>
), and a single signal 3 SNP (rs200229088: per-
<italic>t</italic>
allele OR ER
<sup>+</sup>
= 1.12; 95% CI 1.09–1.15; p conditional
<italic>=</italic>
1.12 × 10
<sup>−05</sup>
). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the
<italic>g</italic>
(risk) allele of rs10941679 was associated with increased expression of
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas
<italic>MRPS30</italic>
plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
, two candidate genes for breast cancer pathogenesis.</p>
</div>
</front>
</TEI>
<pmc article-type="brief-report">
<pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front>
<journal-meta>
<journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id>
<journal-title-group>
<journal-title>American Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher>
<publisher-name>Elsevier</publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">27640304</article-id>
<article-id pub-id-type="pmc">5065698</article-id>
<article-id pub-id-type="publisher-id">S0002-9297(16)30291-9</article-id>
<article-id pub-id-type="doi">10.1016/j.ajhg.2016.07.017</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Report</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
Regulation</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Ghoussaini</surname>
<given-names>Maya</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn1" ref-type="fn">98</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>French</surname>
<given-names>Juliet D.</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
<xref rid="fn1" ref-type="fn">98</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Michailidou</surname>
<given-names>Kyriaki</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Nord</surname>
<given-names>Silje</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Beesley</surname>
<given-names>Jonathan</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Canisus</surname>
<given-names>Sander</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hillman</surname>
<given-names>Kristine M.</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kaufmann</surname>
<given-names>Susanne</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sivakumaran</surname>
<given-names>Haran</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Moradi Marjaneh</surname>
<given-names>Mahdi</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lee</surname>
<given-names>Jason S.</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Dennis</surname>
<given-names>Joe</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bolla</surname>
<given-names>Manjeet K.</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Wang</surname>
<given-names>Qin</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Dicks</surname>
<given-names>Ed</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Milne</surname>
<given-names>Roger L.</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hopper</surname>
<given-names>John L.</given-names>
</name>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Southey</surname>
<given-names>Melissa C.</given-names>
</name>
<xref rid="aff9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Schmidt</surname>
<given-names>Marjanka K.</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Broeks</surname>
<given-names>Annegien</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Muir</surname>
<given-names>Kenneth</given-names>
</name>
<xref rid="aff10" ref-type="aff">10</xref>
<xref rid="aff11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lophatananon</surname>
<given-names>Artitaya</given-names>
</name>
<xref rid="aff10" ref-type="aff">10</xref>
<xref rid="aff11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Fasching</surname>
<given-names>Peter A.</given-names>
</name>
<xref rid="aff12" ref-type="aff">12</xref>
<xref rid="aff13" ref-type="aff">13</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Beckmann</surname>
<given-names>Matthias W.</given-names>
</name>
<xref rid="aff12" ref-type="aff">12</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Fletcher</surname>
<given-names>Olivia</given-names>
</name>
<xref rid="aff14" ref-type="aff">14</xref>
<xref rid="aff15" ref-type="aff">15</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Johnson</surname>
<given-names>Nichola</given-names>
</name>
<xref rid="aff14" ref-type="aff">14</xref>
<xref rid="aff15" ref-type="aff">15</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sawyer</surname>
<given-names>Elinor J.</given-names>
</name>
<xref rid="aff16" ref-type="aff">16</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tomlinson</surname>
<given-names>Ian</given-names>
</name>
<xref rid="aff17" ref-type="aff">17</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Burwinkel</surname>
<given-names>Barbara</given-names>
</name>
<xref rid="aff18" ref-type="aff">18</xref>
<xref rid="aff19" ref-type="aff">19</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Marme</surname>
<given-names>Frederik</given-names>
</name>
<xref rid="aff18" ref-type="aff">18</xref>
<xref rid="aff20" ref-type="aff">20</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Guénel</surname>
<given-names>Pascal</given-names>
</name>
<xref rid="aff21" ref-type="aff">21</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Truong</surname>
<given-names>Thérèse</given-names>
</name>
<xref rid="aff21" ref-type="aff">21</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bojesen</surname>
<given-names>Stig E.</given-names>
</name>
<xref rid="aff22" ref-type="aff">22</xref>
<xref rid="aff23" ref-type="aff">23</xref>
<xref rid="aff24" ref-type="aff">24</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Flyger</surname>
<given-names>Henrik</given-names>
</name>
<xref rid="aff25" ref-type="aff">25</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Benitez</surname>
<given-names>Javier</given-names>
</name>
<xref rid="aff26" ref-type="aff">26</xref>
<xref rid="aff27" ref-type="aff">27</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>González-Neira</surname>
<given-names>Anna</given-names>
</name>
<xref rid="aff26" ref-type="aff">26</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Alonso</surname>
<given-names>M. Rosario</given-names>
</name>
<xref rid="aff28" ref-type="aff">28</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Pita</surname>
<given-names>Guillermo</given-names>
</name>
<xref rid="aff28" ref-type="aff">28</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Neuhausen</surname>
<given-names>Susan L.</given-names>
</name>
<xref rid="aff29" ref-type="aff">29</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Anton-Culver</surname>
<given-names>Hoda</given-names>
</name>
<xref rid="aff30" ref-type="aff">30</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Brenner</surname>
<given-names>Hermann</given-names>
</name>
<xref rid="aff31" ref-type="aff">31</xref>
<xref rid="aff32" ref-type="aff">32</xref>
<xref rid="aff33" ref-type="aff">33</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Arndt</surname>
<given-names>Volker</given-names>
</name>
<xref rid="aff31" ref-type="aff">31</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Meindl</surname>
<given-names>Alfons</given-names>
</name>
<xref rid="aff34" ref-type="aff">34</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Schmutzler</surname>
<given-names>Rita K.</given-names>
</name>
<xref rid="aff35" ref-type="aff">35</xref>
<xref rid="aff36" ref-type="aff">36</xref>
<xref rid="aff37" ref-type="aff">37</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Brauch</surname>
<given-names>Hiltrud</given-names>
</name>
<xref rid="aff32" ref-type="aff">32</xref>
<xref rid="aff38" ref-type="aff">38</xref>
<xref rid="aff39" ref-type="aff">39</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hamann</surname>
<given-names>Ute</given-names>
</name>
<xref rid="aff40" ref-type="aff">40</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tessier</surname>
<given-names>Daniel C.</given-names>
</name>
<xref rid="aff41" ref-type="aff">41</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Vincent</surname>
<given-names>Daniel</given-names>
</name>
<xref rid="aff41" ref-type="aff">41</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Nevanlinna</surname>
<given-names>Heli</given-names>
</name>
<xref rid="aff42" ref-type="aff">42</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Khan</surname>
<given-names>Sofia</given-names>
</name>
<xref rid="aff42" ref-type="aff">42</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Matsuo</surname>
<given-names>Keitaro</given-names>
</name>
<xref rid="aff43" ref-type="aff">43</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Ito</surname>
<given-names>Hidemi</given-names>
</name>
<xref rid="aff44" ref-type="aff">44</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Dörk</surname>
<given-names>Thilo</given-names>
</name>
<xref rid="aff45" ref-type="aff">45</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bogdanova</surname>
<given-names>Natalia V.</given-names>
</name>
<xref rid="aff45" ref-type="aff">45</xref>
<xref rid="aff46" ref-type="aff">46</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lindblom</surname>
<given-names>Annika</given-names>
</name>
<xref rid="aff47" ref-type="aff">47</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Margolin</surname>
<given-names>Sara</given-names>
</name>
<xref rid="aff48" ref-type="aff">48</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Mannermaa</surname>
<given-names>Arto</given-names>
</name>
<xref rid="aff49" ref-type="aff">49</xref>
<xref rid="aff50" ref-type="aff">50</xref>
<xref rid="aff51" ref-type="aff">51</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kosma</surname>
<given-names>Veli-Matti</given-names>
</name>
<xref rid="aff49" ref-type="aff">49</xref>
<xref rid="aff50" ref-type="aff">50</xref>
<xref rid="aff51" ref-type="aff">51</xref>
</contrib>
<contrib contrib-type="author">
<collab>kConFab/AOCS Investigators</collab>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Wu</surname>
<given-names>Anna H.</given-names>
</name>
<xref rid="aff52" ref-type="aff">52</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Van Den Berg</surname>
<given-names>David</given-names>
</name>
<xref rid="aff52" ref-type="aff">52</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lambrechts</surname>
<given-names>Diether</given-names>
</name>
<xref rid="aff53" ref-type="aff">53</xref>
<xref rid="aff54" ref-type="aff">54</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Floris</surname>
<given-names>Giuseppe</given-names>
</name>
<xref rid="aff55" ref-type="aff">55</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Chang-Claude</surname>
<given-names>Jenny</given-names>
</name>
<xref rid="aff56" ref-type="aff">56</xref>
<xref rid="aff57" ref-type="aff">57</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rudolph</surname>
<given-names>Anja</given-names>
</name>
<xref rid="aff56" ref-type="aff">56</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Radice</surname>
<given-names>Paolo</given-names>
</name>
<xref rid="aff58" ref-type="aff">58</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Barile</surname>
<given-names>Monica</given-names>
</name>
<xref rid="aff59" ref-type="aff">59</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Couch</surname>
<given-names>Fergus J.</given-names>
</name>
<xref rid="aff60" ref-type="aff">60</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hallberg</surname>
<given-names>Emily</given-names>
</name>
<xref rid="aff61" ref-type="aff">61</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Giles</surname>
<given-names>Graham G.</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Haiman</surname>
<given-names>Christopher A.</given-names>
</name>
<xref rid="aff52" ref-type="aff">52</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Le Marchand</surname>
<given-names>Loic</given-names>
</name>
<xref rid="aff62" ref-type="aff">62</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Goldberg</surname>
<given-names>Mark S.</given-names>
</name>
<xref rid="aff63" ref-type="aff">63</xref>
<xref rid="aff64" ref-type="aff">64</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Teo</surname>
<given-names>Soo H.</given-names>
</name>
<xref rid="aff65" ref-type="aff">65</xref>
<xref rid="aff66" ref-type="aff">66</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Yip</surname>
<given-names>Cheng Har</given-names>
</name>
<xref rid="aff66" ref-type="aff">66</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Borresen-Dale</surname>
<given-names>Anne-Lise</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author">
<collab>NBCS Collaborators</collab>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Zheng</surname>
<given-names>Wei</given-names>
</name>
<xref rid="aff67" ref-type="aff">67</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Cai</surname>
<given-names>Qiuyin</given-names>
</name>
<xref rid="aff67" ref-type="aff">67</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Winqvist</surname>
<given-names>Robert</given-names>
</name>
<xref rid="aff68" ref-type="aff">68</xref>
<xref rid="aff69" ref-type="aff">69</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Pylkäs</surname>
<given-names>Katri</given-names>
</name>
<xref rid="aff68" ref-type="aff">68</xref>
<xref rid="aff69" ref-type="aff">69</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Andrulis</surname>
<given-names>Irene L.</given-names>
</name>
<xref rid="aff70" ref-type="aff">70</xref>
<xref rid="aff71" ref-type="aff">71</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Devilee</surname>
<given-names>Peter</given-names>
</name>
<xref rid="aff72" ref-type="aff">72</xref>
<xref rid="aff73" ref-type="aff">73</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tollenaar</surname>
<given-names>Rob A.E.M.</given-names>
</name>
<xref rid="aff74" ref-type="aff">74</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>García-Closas</surname>
<given-names>Montserrat</given-names>
</name>
<xref rid="aff75" ref-type="aff">75</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Figueroa</surname>
<given-names>Jonine</given-names>
</name>
<xref rid="aff75" ref-type="aff">75</xref>
<xref rid="aff76" ref-type="aff">76</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hall</surname>
<given-names>Per</given-names>
</name>
<xref rid="aff77" ref-type="aff">77</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Czene</surname>
<given-names>Kamila</given-names>
</name>
<xref rid="aff77" ref-type="aff">77</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Brand</surname>
<given-names>Judith S.</given-names>
</name>
<xref rid="aff77" ref-type="aff">77</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Darabi</surname>
<given-names>Hatef</given-names>
</name>
<xref rid="aff77" ref-type="aff">77</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Eriksson</surname>
<given-names>Mikael</given-names>
</name>
<xref rid="aff77" ref-type="aff">77</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hooning</surname>
<given-names>Maartje J.</given-names>
</name>
<xref rid="aff78" ref-type="aff">78</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Koppert</surname>
<given-names>Linetta B.</given-names>
</name>
<xref rid="aff79" ref-type="aff">79</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Li</surname>
<given-names>Jingmei</given-names>
</name>
<xref rid="aff77" ref-type="aff">77</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Shu</surname>
<given-names>Xiao-Ou</given-names>
</name>
<xref rid="aff67" ref-type="aff">67</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Zheng</surname>
<given-names>Ying</given-names>
</name>
<xref rid="aff80" ref-type="aff">80</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Cox</surname>
<given-names>Angela</given-names>
</name>
<xref rid="aff81" ref-type="aff">81</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Cross</surname>
<given-names>Simon S.</given-names>
</name>
<xref rid="aff82" ref-type="aff">82</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Shah</surname>
<given-names>Mitul</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rhenius</surname>
<given-names>Valerie</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Choi</surname>
<given-names>Ji-Yeob</given-names>
</name>
<xref rid="aff83" ref-type="aff">83</xref>
<xref rid="aff84" ref-type="aff">84</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kang</surname>
<given-names>Daehee</given-names>
</name>
<xref rid="aff83" ref-type="aff">83</xref>
<xref rid="aff84" ref-type="aff">84</xref>
<xref rid="aff85" ref-type="aff">85</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hartman</surname>
<given-names>Mikael</given-names>
</name>
<xref rid="aff86" ref-type="aff">86</xref>
<xref rid="aff87" ref-type="aff">87</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Chia</surname>
<given-names>Kee Seng</given-names>
</name>
<xref rid="aff86" ref-type="aff">86</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kabisch</surname>
<given-names>Maria</given-names>
</name>
<xref rid="aff40" ref-type="aff">40</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Torres</surname>
<given-names>Diana</given-names>
</name>
<xref rid="aff40" ref-type="aff">40</xref>
<xref rid="aff88" ref-type="aff">88</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Luccarini</surname>
<given-names>Craig</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Conroy</surname>
<given-names>Don M.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Jakubowska</surname>
<given-names>Anna</given-names>
</name>
<xref rid="aff89" ref-type="aff">89</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lubinski</surname>
<given-names>Jan</given-names>
</name>
<xref rid="aff89" ref-type="aff">89</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sangrajrang</surname>
<given-names>Suleeporn</given-names>
</name>
<xref rid="aff90" ref-type="aff">90</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Brennan</surname>
<given-names>Paul</given-names>
</name>
<xref rid="aff91" ref-type="aff">91</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Olswold</surname>
<given-names>Curtis</given-names>
</name>
<xref rid="aff62" ref-type="aff">62</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Slager</surname>
<given-names>Susan</given-names>
</name>
<xref rid="aff62" ref-type="aff">62</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Shen</surname>
<given-names>Chen-Yang</given-names>
</name>
<xref rid="aff92" ref-type="aff">92</xref>
<xref rid="aff93" ref-type="aff">93</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hou</surname>
<given-names>Ming-Feng</given-names>
</name>
<xref rid="aff94" ref-type="aff">94</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Swerdlow</surname>
<given-names>Anthony</given-names>
</name>
<xref rid="aff15" ref-type="aff">15</xref>
<xref rid="aff95" ref-type="aff">95</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Schoemaker</surname>
<given-names>Minouk J.</given-names>
</name>
<xref rid="aff95" ref-type="aff">95</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Simard</surname>
<given-names>Jacques</given-names>
</name>
<xref rid="aff96" ref-type="aff">96</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Pharoah</surname>
<given-names>Paul D.P.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kristensen</surname>
<given-names>Vessela</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
<xref rid="aff97" ref-type="aff">97</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Chenevix-Trench</surname>
<given-names>Georgia</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Easton</surname>
<given-names>Douglas F.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Dunning</surname>
<given-names>Alison M.</given-names>
</name>
<email>amd24@medschl.cam.ac.uk</email>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn2" ref-type="fn">99</xref>
<xref rid="cor1" ref-type="corresp"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Edwards</surname>
<given-names>Stacey L.</given-names>
</name>
<email>stacey.edwards@qimrberghofer.edu.au</email>
<xref rid="aff2" ref-type="aff">2</xref>
<xref rid="fn2" ref-type="fn">99</xref>
<xref rid="cor2" ref-type="corresp">∗∗</xref>
</contrib>
</contrib-group>
<aff id="aff1">
<label>1</label>
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</aff>
<aff id="aff2">
<label>2</label>
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</aff>
<aff id="aff3">
<label>3</label>
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</aff>
<aff id="aff4">
<label>4</label>
Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus</aff>
<aff id="aff5">
<label>5</label>
Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, 0310 Oslo, Norway</aff>
<aff id="aff6">
<label>6</label>
Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands</aff>
<aff id="aff7">
<label>7</label>
Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</aff>
<aff id="aff8">
<label>8</label>
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, VIC 3010, Australia</aff>
<aff id="aff9">
<label>9</label>
Department of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia</aff>
<aff id="aff10">
<label>10</label>
Institute of Population Health, University of Manchester, Manchester M13 9PL, UK</aff>
<aff id="aff11">
<label>11</label>
Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK</aff>
<aff id="aff12">
<label>12</label>
Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany</aff>
<aff id="aff13">
<label>13</label>
David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA 90095, USA</aff>
<aff id="aff14">
<label>14</label>
Toby Robins Breast Cancer Now Research Centre, The Institute of Cancer Research, London SW3 6JB, UK</aff>
<aff id="aff15">
<label>15</label>
Division of Breast Cancer Research, The Institute of Cancer Research, London SW7 3RP, UK</aff>
<aff id="aff16">
<label>16</label>
Research Oncology, Guy’s Hospital, King’s College London, London SE1 9RT, UK</aff>
<aff id="aff17">
<label>17</label>
Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK</aff>
<aff id="aff18">
<label>18</label>
Department of Obstetrics and Gynecology, University of Heidelberg, 69120 Heidelberg, Germany</aff>
<aff id="aff19">
<label>19</label>
Molecular Epidemiology Group, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</aff>
<aff id="aff20">
<label>20</label>
National Center for Tumor Diseases, University of Heidelberg, 69120 Heidelberg, Germany</aff>
<aff id="aff21">
<label>21</label>
Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94807 Villejuif, France</aff>
<aff id="aff22">
<label>22</label>
Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</aff>
<aff id="aff23">
<label>23</label>
Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</aff>
<aff id="aff24">
<label>24</label>
Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark</aff>
<aff id="aff25">
<label>25</label>
Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark</aff>
<aff id="aff26">
<label>26</label>
Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</aff>
<aff id="aff27">
<label>27</label>
Centro de Investigación en Red de Enfermedades Raras, 46010 Valencia, Spain</aff>
<aff id="aff28">
<label>28</label>
Human Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain</aff>
<aff id="aff29">
<label>29</label>
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA 92697, USA</aff>
<aff id="aff30">
<label>30</label>
Department of Epidemiology, University of California Irvine, Irvine, CA 92697, USA</aff>
<aff id="aff31">
<label>31</label>
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</aff>
<aff id="aff32">
<label>32</label>
German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</aff>
<aff id="aff33">
<label>33</label>
Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany</aff>
<aff id="aff34">
<label>34</label>
Division of Gynaecology and Obstetrics, Technische Universität München, 81675 Munich, Germany</aff>
<aff id="aff35">
<label>35</label>
Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, 50931 Cologne, Germany</aff>
<aff id="aff36">
<label>36</label>
Center for Integrated Oncology (CIO), University Hospital of Cologne, 50937 Cologne, Germany</aff>
<aff id="aff37">
<label>37</label>
Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</aff>
<aff id="aff38">
<label>38</label>
Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376 Stuttgart, Germany</aff>
<aff id="aff39">
<label>39</label>
University of Tübingen, 72074 Tübingen, Germany</aff>
<aff id="aff40">
<label>40</label>
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</aff>
<aff id="aff41">
<label>41</label>
McGill University and Génome Québec Innovation Centre, Montréal, QC H3A OG1, Canada</aff>
<aff id="aff42">
<label>42</label>
Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, 00029 Helsinki, Finland</aff>
<aff id="aff43">
<label>43</label>
Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan</aff>
<aff id="aff44">
<label>44</label>
Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan</aff>
<aff id="aff45">
<label>45</label>
Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany</aff>
<aff id="aff46">
<label>46</label>
Department of Radiation Oncology, Hannover Medical School, 30625 Hannover, Germany</aff>
<aff id="aff47">
<label>47</label>
Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177 Stockholm, Sweden</aff>
<aff id="aff48">
<label>48</label>
Department of Oncology-Pathology, Karolinska Institutet, 17177 Stockholm, Sweden</aff>
<aff id="aff49">
<label>49</label>
Cancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland</aff>
<aff id="aff50">
<label>50</label>
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland</aff>
<aff id="aff51">
<label>51</label>
Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70210 Kuopio, Finland</aff>
<aff id="aff52">
<label>52</label>
Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA</aff>
<aff id="aff53">
<label>53</label>
Vesalius Research Center, VIB, 3000 Leuven, Belgium</aff>
<aff id="aff54">
<label>54</label>
Laboratory for Translational Genetics, Department of Oncology, University of Leuven, 3000 Leuven, Belgium</aff>
<aff id="aff55">
<label>55</label>
University Hospital Gashuisberg, 3000 Leuven, Belgium</aff>
<aff id="aff56">
<label>56</label>
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany</aff>
<aff id="aff57">
<label>57</label>
University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</aff>
<aff id="aff58">
<label>58</label>
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), 20133 Milan, Italy</aff>
<aff id="aff59">
<label>59</label>
Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, 20141 Milan, Italy</aff>
<aff id="aff60">
<label>60</label>
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA</aff>
<aff id="aff61">
<label>61</label>
Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</aff>
<aff id="aff62">
<label>62</label>
University of Hawaii Cancer Center, Honolulu, HI 96813, USA</aff>
<aff id="aff63">
<label>63</label>
Department of Medicine, McGill University, Montreal, QC H3G 2M1, Canada</aff>
<aff id="aff64">
<label>64</label>
Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, QC H3A 1A8, Canada</aff>
<aff id="aff65">
<label>65</label>
Cancer Research Initiatives Foundation, Subang Jaya, 47500 Selangor, Malaysia</aff>
<aff id="aff66">
<label>66</label>
Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia</aff>
<aff id="aff67">
<label>67</label>
Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</aff>
<aff id="aff68">
<label>68</label>
Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland</aff>
<aff id="aff69">
<label>69</label>
Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, 90220 Oulu, Finland</aff>
<aff id="aff70">
<label>70</label>
Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</aff>
<aff id="aff71">
<label>71</label>
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</aff>
<aff id="aff72">
<label>72</label>
Department of Pathology, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</aff>
<aff id="aff73">
<label>73</label>
Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</aff>
<aff id="aff74">
<label>74</label>
Department of Surgery, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</aff>
<aff id="aff75">
<label>75</label>
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA</aff>
<aff id="aff76">
<label>76</label>
Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK</aff>
<aff id="aff77">
<label>77</label>
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden</aff>
<aff id="aff78">
<label>78</label>
Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands</aff>
<aff id="aff79">
<label>79</label>
Department of Surgical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands</aff>
<aff id="aff80">
<label>80</label>
Shanghai Municipal Center for Disease Control and Prevention, 200336 Shanghai, China</aff>
<aff id="aff81">
<label>81</label>
Sheffield Cancer Research, Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK</aff>
<aff id="aff82">
<label>82</label>
Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK</aff>
<aff id="aff83">
<label>83</label>
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799, Korea</aff>
<aff id="aff84">
<label>84</label>
Cancer Research Institute, Seoul National University, Seoul 110-799, Korea</aff>
<aff id="aff85">
<label>85</label>
Department of Preventive Medicine, Seoul National University College of Medicine, Seoul 110-799, Korea</aff>
<aff id="aff86">
<label>86</label>
Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore</aff>
<aff id="aff87">
<label>87</label>
Department of Surgery, National University Health System, Singapore 117597, Singapore</aff>
<aff id="aff88">
<label>88</label>
Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, DC 11001000, Colombia</aff>
<aff id="aff89">
<label>89</label>
Department of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland</aff>
<aff id="aff90">
<label>90</label>
National Cancer Institute, Bangkok 10400, Thailand</aff>
<aff id="aff91">
<label>91</label>
International Agency for Research on Cancer, Lyon Cedex 08, France</aff>
<aff id="aff92">
<label>92</label>
School of Public Health, China Medical University, Taichung 40402, Taiwan</aff>
<aff id="aff93">
<label>93</label>
Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan</aff>
<aff id="aff94">
<label>94</label>
Department of Surgery, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung 812, Taiwan</aff>
<aff id="aff95">
<label>95</label>
Division of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK</aff>
<aff id="aff96">
<label>96</label>
Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, QC G1V 4G2, Canada</aff>
<aff id="aff97">
<label>97</label>
Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, 0450 Oslo, Norway</aff>
<author-notes>
<corresp id="cor1">
<label></label>
Corresponding author
<email>amd24@medschl.cam.ac.uk</email>
</corresp>
<corresp id="cor2">
<label>∗∗</label>
Corresponding author
<email>stacey.edwards@qimrberghofer.edu.au</email>
</corresp>
<fn id="fn1">
<label>98</label>
<p id="ntpara0010">These authors contributed equally to this study</p>
</fn>
<fn id="fn2">
<label>99</label>
<p id="ntpara0015">These authors contributed equally to this study</p>
</fn>
</author-notes>
<pub-date pub-type="pmc-release">
<day>15</day>
<month>9</month>
<year>2016</year>
</pub-date>
<pmc-comment> PMC Release delay is 0 months and 0 days and was based on .</pmc-comment>
<pub-date pub-type="ppub">
<day>06</day>
<month>10</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>15</day>
<month>9</month>
<year>2016</year>
</pub-date>
<volume>99</volume>
<issue>4</issue>
<fpage>903</fpage>
<lpage>911</lpage>
<history>
<date date-type="received">
<day>27</day>
<month>1</month>
<year>2016</year>
</date>
<date date-type="accepted">
<day>16</day>
<month>7</month>
<year>2016</year>
</date>
</history>
<permissions>
<copyright-statement>© 2016 The Author(s)</copyright-statement>
<copyright-year>2016</copyright-year>
<license license-type="CC BY" xlink:href="http://creativecommons.org/licenses/by/4.0/">
<license-p>This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).</license-p>
</license>
</permissions>
<abstract id="abs0010">
<p>Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER
<sup>+</sup>
) breast cancer (per-
<italic>g</italic>
allele OR ER
<sup>+</sup>
= 1.15; 95% CI 1.13–1.18; p = 8.35 × 10
<sup>−30</sup>
). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER
<sup></sup>
) breast cancer (lead SNP rs6864776: per-
<italic>a</italic>
allele OR ER
<sup></sup>
= 1.10; 95% CI 1.05–1.14; p conditional = 1.44 × 10
<sup>−12</sup>
), and a single signal 3 SNP (rs200229088: per-
<italic>t</italic>
allele OR ER
<sup>+</sup>
= 1.12; 95% CI 1.09–1.15; p conditional
<italic>=</italic>
1.12 × 10
<sup>−05</sup>
). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the
<italic>g</italic>
(risk) allele of rs10941679 was associated with increased expression of
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas
<italic>MRPS30</italic>
plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of
<italic>FGF10</italic>
and
<italic>MRPS30</italic>
, two candidate genes for breast cancer pathogenesis.</p>
</abstract>
</article-meta>
<notes>
<p id="misc0010">Published: September 15, 2016</p>
</notes>
</front>
</pmc>
</record>

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