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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A Genome-wide Association Study of Early-onset Breast Cancer Identifies <italic>PFKM</italic> as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age</title><author><name sortKey="Ahsan, Habibul" sort="Ahsan, Habibul" uniqKey="Ahsan H" first="Habibul" last="Ahsan">Habibul Ahsan</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Human Genetics, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Comprehensive Cancer Center, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Halpern, Jerry" sort="Halpern, Jerry" uniqKey="Halpern J" first="Jerry" last="Halpern">Jerry Halpern</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation></author><author><name sortKey="Kibriya, Muhammad G" sort="Kibriya, Muhammad G" uniqKey="Kibriya M" first="Muhammad G" last="Kibriya">Muhammad G. Kibriya</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Pierce, Brandon L" sort="Pierce, Brandon L" uniqKey="Pierce B" first="Brandon L" last="Pierce">Brandon L. Pierce</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Comprehensive Cancer Center, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Tong, Lin" sort="Tong, Lin" uniqKey="Tong L" first="Lin" last="Tong">Lin Tong</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Gamazon, Eric" sort="Gamazon, Eric" uniqKey="Gamazon E" first="Eric" last="Gamazon">Eric Gamazon</name><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Mcguire, Valerie" sort="Mcguire, Valerie" uniqKey="Mcguire V" first="Valerie" last="Mcguire">Valerie Mcguire</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation></author><author><name sortKey="Felberg, Anna" sort="Felberg, Anna" uniqKey="Felberg A" first="Anna" last="Felberg">Anna Felberg</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation></author><author><name sortKey="Shi, Jianxin" sort="Shi, Jianxin" uniqKey="Shi J" first="Jianxin" last="Shi">Jianxin Shi</name><affiliation><nlm:aff id="A6">Epidemiology and Genetics Research Program, National Cancer Institute, MD</nlm:aff></affiliation></author><author><name sortKey="Jasmine, Farzana" sort="Jasmine, Farzana" uniqKey="Jasmine F" first="Farzana" last="Jasmine">Farzana Jasmine</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Roy, Shantanu" sort="Roy, Shantanu" uniqKey="Roy S" first="Shantanu" last="Roy">Shantanu Roy</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Brutus, Rachelle" sort="Brutus, Rachelle" uniqKey="Brutus R" first="Rachelle" last="Brutus">Rachelle Brutus</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Argos, Maria" sort="Argos, Maria" uniqKey="Argos M" first="Maria" last="Argos">Maria Argos</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Melkonian, Stephanie" sort="Melkonian, Stephanie" uniqKey="Melkonian S" first="Stephanie" last="Melkonian">Stephanie Melkonian</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</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="A7">Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene" sort="Andrulis, Irene" uniqKey="Andrulis I" first="Irene" last="Andrulis">Irene Andrulis</name><affiliation><nlm:aff id="A8">Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto Ontario</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="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="A11">Cancer Prevention Institute of California, Fremont, CA and Department of Health Research and Policy, Stanford University School of Medicine and Stanford Cancer Institute, Stanford, CA</nlm:aff></affiliation></author><author><name sortKey="Malone, Kathi" sort="Malone, Kathi" uniqKey="Malone K" first="Kathi" last="Malone">Kathi Malone</name><affiliation><nlm:aff id="A12">Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Ursin, Giske" sort="Ursin, Giske" uniqKey="Ursin G" first="Giske" last="Ursin">Giske Ursin</name><affiliation><nlm:aff id="A13">Norway Cancer Registry, Norway</nlm:aff></affiliation></author><author><name sortKey="Gammon, Marilie D" sort="Gammon, Marilie D" uniqKey="Gammon M" first="Marilie D" last="Gammon">Marilie D. Gammon</name><affiliation><nlm:aff id="A14">Department of Epidemiology, University of North Carolina at Chapel Hill, NC</nlm:aff></affiliation></author><author><name sortKey="Thomas, Duncan C" sort="Thomas, Duncan C" uniqKey="Thomas D" first="Duncan C" last="Thomas">Duncan C. Thomas</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Seminara, Daniela" sort="Seminara, Daniela" uniqKey="Seminara D" first="Daniela" last="Seminara">Daniela Seminara</name><affiliation><nlm:aff id="A6">Epidemiology and Genetics Research Program, National Cancer Institute, MD</nlm:aff></affiliation></author><author><name sortKey="Casey, Graham" sort="Casey, Graham" uniqKey="Casey G" first="Graham" last="Casey">Graham Casey</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Knight, Julia A" sort="Knight, Julia A" uniqKey="Knight J" first="Julia A" last="Knight">Julia A. Knight</name><affiliation><nlm:aff id="A8">Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto Ontario</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="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Australia</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="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Santella, Regina M" sort="Santella, Regina M" uniqKey="Santella R" first="Regina M" last="Santella">Regina M. Santella</name><affiliation><nlm:aff id="A17">Department of Environmental Health Sciences, Columbia University Mailman School of Public Health</nlm:aff></affiliation></author><author><name sortKey="Lee, Eunjung" sort="Lee, Eunjung" uniqKey="Lee E" first="Eunjung" last="Lee">Eunjung Lee</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Conti, David" sort="Conti, David" uniqKey="Conti D" first="David" last="Conti">David Conti</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Duggan, David" sort="Duggan, David" uniqKey="Duggan D" first="David" last="Duggan">David Duggan</name><affiliation><nlm:aff id="A18">Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ</nlm:aff></affiliation></author><author><name sortKey="Gallinger, Steve" sort="Gallinger, Steve" uniqKey="Gallinger S" first="Steve" last="Gallinger">Steve Gallinger</name><affiliation><nlm:aff id="A19">Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Haile, Robert" sort="Haile, Robert" uniqKey="Haile R" first="Robert" last="Haile">Robert Haile</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Jenkins, Mark" sort="Jenkins, Mark" uniqKey="Jenkins M" first="Mark" last="Jenkins">Mark Jenkins</name><affiliation><nlm:aff id="A16">Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane M" sort="Lindor, Noralane M" uniqKey="Lindor N" first="Noralane M" last="Lindor">Noralane M. Lindor</name><affiliation><nlm:aff id="A20">Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, AZ, USA</nlm:aff></affiliation></author><author><name sortKey="Newcomb, Polly" sort="Newcomb, Polly" uniqKey="Newcomb P" first="Polly" last="Newcomb">Polly Newcomb</name><affiliation><nlm:aff id="A12">Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA</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="A21">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Apicella, Carmel" sort="Apicella, Carmel" uniqKey="Apicella C" first="Carmel" last="Apicella">Carmel Apicella</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Park, Daniel J" sort="Park, Daniel J" uniqKey="Park D" first="Daniel J" last="Park">Daniel J. Park</name><affiliation><nlm:aff id="A22">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name><affiliation><nlm:aff id="A23">Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK</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="A24">Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Silva, Isabel Dos Santos" sort="Silva, Isabel Dos Santos" uniqKey="Silva I" first="Isabel Dos Santos" last="Silva">Isabel Dos Santos Silva</name><affiliation><nlm:aff id="A23">Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation><nlm:aff id="A25">Centre National de Genotypage, Evry, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Fondation Jean Dausset – CEPH, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J" last="Hunter">David J. Hunter</name><affiliation><nlm:aff id="A27">Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J" last="Chanock">Stephen J. Chanock</name><affiliation><nlm:aff id="A28">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA</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="A29">Clinic of Gynaecology and Obstetrics, Division for Gynaecological Tumor-Genetics, Technische Universität München, München, 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="A30">Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco-Oncology, University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Müller-Myhsok">Bertram Müller-Myhsok</name><affiliation><nlm:aff id="A31">Max Planck Institute of Psychiatry, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Lochmann, Magdalena" sort="Lochmann, Magdalena" uniqKey="Lochmann M" first="Magdalena" last="Lochmann">Magdalena Lochmann</name><affiliation><nlm:aff id="A29">Clinic of Gynaecology and Obstetrics, Division for Gynaecological Tumor-Genetics, Technische Universität München, München, Germany</nlm:aff></affiliation></author><author><name sortKey="Beckmann, Lars" sort="Beckmann, Lars" uniqKey="Beckmann L" first="Lars" last="Beckmann">Lars Beckmann</name><affiliation><nlm:aff id="A32">Foundation for Quality and Efficiency in Health Care IQWIG, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Hein, Rebecca" sort="Hein, Rebecca" uniqKey="Hein R" first="Rebecca" last="Hein">Rebecca Hein</name><affiliation><nlm:aff id="A7">Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A33">PMV Research Group at the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Makalic, Enes" sort="Makalic, Enes" uniqKey="Makalic E" first="Enes" last="Makalic">Enes Makalic</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Daniel F" sort="Schmidt, Daniel F" uniqKey="Schmidt D" first="Daniel F" last="Schmidt">Daniel F. Schmidt</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Bui, Quang Minh" sort="Bui, Quang Minh" uniqKey="Bui Q" first="Quang Minh" last="Bui">Quang Minh Bui</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Stone, Jennifer" sort="Stone, Jennifer" uniqKey="Stone J" first="Jennifer" last="Stone">Jennifer Stone</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Flesch Janys, Dieter" sort="Flesch Janys, Dieter" uniqKey="Flesch Janys D" first="Dieter" last="Flesch-Janys">Dieter Flesch-Janys</name><affiliation><nlm:aff id="A34">Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A35">Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Dahmen, Norbert" sort="Dahmen, Norbert" uniqKey="Dahmen N" first="Norbert" last="Dahmen">Norbert Dahmen</name><affiliation><nlm:aff id="A36">Department of Psychiatry, University of Mainz, Mainz, Germany</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="A37">Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="A38">Department of Clinical Genetics, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Blomqvist, Carl" sort="Blomqvist, Carl" uniqKey="Blomqvist C" first="Carl" last="Blomqvist">Carl Blomqvist</name><affiliation><nlm:aff id="A39">Department of Oncology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</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="A40">Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, 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="A40">Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden</nlm:aff></affiliation></author><author><name sortKey="Irwanto, Astrid" sort="Irwanto, Astrid" uniqKey="Irwanto A" first="Astrid" last="Irwanto">Astrid Irwanto</name><affiliation><nlm:aff id="A41">Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore</nlm:aff></affiliation></author><author><name sortKey="Liu, Jianjun" sort="Liu, Jianjun" uniqKey="Liu J" first="Jianjun" last="Liu">Jianjun Liu</name><affiliation><nlm:aff id="A41">Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore</nlm:aff></affiliation></author><author><name sortKey="Rahman, Nazneen" sort="Rahman, Nazneen" uniqKey="Rahman N" first="Nazneen" last="Rahman">Nazneen Rahman</name><affiliation><nlm:aff id="A42">Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK</nlm:aff></affiliation></author><author><name sortKey="Turnbull, Clare" sort="Turnbull, Clare" uniqKey="Turnbull C" first="Clare" last="Turnbull">Clare Turnbull</name><affiliation><nlm:aff id="A42">Section of Cancer Genetics, Institute of Cancer Research, Sutton, 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="A43">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul" sort="Pharoah, Paul" uniqKey="Pharoah P" first="Paul" last="Pharoah">Paul Pharoah</name><affiliation><nlm:aff id="A21">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Waisfisz, Quinten" sort="Waisfisz, Quinten" uniqKey="Waisfisz Q" first="Quinten" last="Waisfisz">Quinten Waisfisz</name><affiliation><nlm:aff id="A44">Department of Clinical Genetics, VU University Medical Center, section Oncogenetics, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne" sort="Meijers Heijboer, Hanne" uniqKey="Meijers Heijboer H" first="Hanne" last="Meijers-Heijboer">Hanne Meijers-Heijboer</name><affiliation><nlm:aff id="A44">Department of Clinical Genetics, VU University Medical Center, section Oncogenetics, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="Andre G." last="Uitterlinden">Andre G. Uitterlinden</name><affiliation><nlm:aff id="A45">Department of Internal Medicine and Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rivadeneira, Fernando" sort="Rivadeneira, Fernando" uniqKey="Rivadeneira F" first="Fernando" last="Rivadeneira">Fernando Rivadeneira</name><affiliation><nlm:aff id="A45">Department of Internal Medicine and Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Nicolae, Dan" sort="Nicolae, Dan" uniqKey="Nicolae D" first="Dan" last="Nicolae">Dan Nicolae</name><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</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="A21">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Cox, Nancy J" sort="Cox, Nancy J" uniqKey="Cox N" first="Nancy J" last="Cox">Nancy J. Cox</name><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Human Genetics, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Comprehensive Cancer Center, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Whittemore, Alice S" sort="Whittemore, Alice S" uniqKey="Whittemore A" first="Alice S" last="Whittemore">Alice S. Whittemore</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation><affiliation><nlm:aff id="A46">Stanford Cancer Institute, Palo Alto, CA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24493630</idno><idno type="pmc">3990360</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990360</idno><idno type="RBID">PMC:3990360</idno><idno type="doi">10.1158/1055-9965.EPI-13-0340</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002091</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002091</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Genome-wide Association Study of Early-onset Breast Cancer Identifies <italic>PFKM</italic> as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age</title><author><name sortKey="Ahsan, Habibul" sort="Ahsan, Habibul" uniqKey="Ahsan H" first="Habibul" last="Ahsan">Habibul Ahsan</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Human Genetics, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Comprehensive Cancer Center, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Halpern, Jerry" sort="Halpern, Jerry" uniqKey="Halpern J" first="Jerry" last="Halpern">Jerry Halpern</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation></author><author><name sortKey="Kibriya, Muhammad G" sort="Kibriya, Muhammad G" uniqKey="Kibriya M" first="Muhammad G" last="Kibriya">Muhammad G. Kibriya</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Pierce, Brandon L" sort="Pierce, Brandon L" uniqKey="Pierce B" first="Brandon L" last="Pierce">Brandon L. Pierce</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Comprehensive Cancer Center, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Tong, Lin" sort="Tong, Lin" uniqKey="Tong L" first="Lin" last="Tong">Lin Tong</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Gamazon, Eric" sort="Gamazon, Eric" uniqKey="Gamazon E" first="Eric" last="Gamazon">Eric Gamazon</name><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Mcguire, Valerie" sort="Mcguire, Valerie" uniqKey="Mcguire V" first="Valerie" last="Mcguire">Valerie Mcguire</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation></author><author><name sortKey="Felberg, Anna" sort="Felberg, Anna" uniqKey="Felberg A" first="Anna" last="Felberg">Anna Felberg</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation></author><author><name sortKey="Shi, Jianxin" sort="Shi, Jianxin" uniqKey="Shi J" first="Jianxin" last="Shi">Jianxin Shi</name><affiliation><nlm:aff id="A6">Epidemiology and Genetics Research Program, National Cancer Institute, MD</nlm:aff></affiliation></author><author><name sortKey="Jasmine, Farzana" sort="Jasmine, Farzana" uniqKey="Jasmine F" first="Farzana" last="Jasmine">Farzana Jasmine</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Roy, Shantanu" sort="Roy, Shantanu" uniqKey="Roy S" first="Shantanu" last="Roy">Shantanu Roy</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Brutus, Rachelle" sort="Brutus, Rachelle" uniqKey="Brutus R" first="Rachelle" last="Brutus">Rachelle Brutus</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Argos, Maria" sort="Argos, Maria" uniqKey="Argos M" first="Maria" last="Argos">Maria Argos</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Melkonian, Stephanie" sort="Melkonian, Stephanie" uniqKey="Melkonian S" first="Stephanie" last="Melkonian">Stephanie Melkonian</name><affiliation><nlm:aff id="A1">Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</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="A7">Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene" sort="Andrulis, Irene" uniqKey="Andrulis I" first="Irene" last="Andrulis">Irene Andrulis</name><affiliation><nlm:aff id="A8">Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto Ontario</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="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="A11">Cancer Prevention Institute of California, Fremont, CA and Department of Health Research and Policy, Stanford University School of Medicine and Stanford Cancer Institute, Stanford, CA</nlm:aff></affiliation></author><author><name sortKey="Malone, Kathi" sort="Malone, Kathi" uniqKey="Malone K" first="Kathi" last="Malone">Kathi Malone</name><affiliation><nlm:aff id="A12">Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Ursin, Giske" sort="Ursin, Giske" uniqKey="Ursin G" first="Giske" last="Ursin">Giske Ursin</name><affiliation><nlm:aff id="A13">Norway Cancer Registry, Norway</nlm:aff></affiliation></author><author><name sortKey="Gammon, Marilie D" sort="Gammon, Marilie D" uniqKey="Gammon M" first="Marilie D" last="Gammon">Marilie D. Gammon</name><affiliation><nlm:aff id="A14">Department of Epidemiology, University of North Carolina at Chapel Hill, NC</nlm:aff></affiliation></author><author><name sortKey="Thomas, Duncan C" sort="Thomas, Duncan C" uniqKey="Thomas D" first="Duncan C" last="Thomas">Duncan C. Thomas</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Seminara, Daniela" sort="Seminara, Daniela" uniqKey="Seminara D" first="Daniela" last="Seminara">Daniela Seminara</name><affiliation><nlm:aff id="A6">Epidemiology and Genetics Research Program, National Cancer Institute, MD</nlm:aff></affiliation></author><author><name sortKey="Casey, Graham" sort="Casey, Graham" uniqKey="Casey G" first="Graham" last="Casey">Graham Casey</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Knight, Julia A" sort="Knight, Julia A" uniqKey="Knight J" first="Julia A" last="Knight">Julia A. Knight</name><affiliation><nlm:aff id="A8">Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto Ontario</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="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Australia</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="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Santella, Regina M" sort="Santella, Regina M" uniqKey="Santella R" first="Regina M" last="Santella">Regina M. Santella</name><affiliation><nlm:aff id="A17">Department of Environmental Health Sciences, Columbia University Mailman School of Public Health</nlm:aff></affiliation></author><author><name sortKey="Lee, Eunjung" sort="Lee, Eunjung" uniqKey="Lee E" first="Eunjung" last="Lee">Eunjung Lee</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Conti, David" sort="Conti, David" uniqKey="Conti D" first="David" last="Conti">David Conti</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Duggan, David" sort="Duggan, David" uniqKey="Duggan D" first="David" last="Duggan">David Duggan</name><affiliation><nlm:aff id="A18">Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ</nlm:aff></affiliation></author><author><name sortKey="Gallinger, Steve" sort="Gallinger, Steve" uniqKey="Gallinger S" first="Steve" last="Gallinger">Steve Gallinger</name><affiliation><nlm:aff id="A19">Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Haile, Robert" sort="Haile, Robert" uniqKey="Haile R" first="Robert" last="Haile">Robert Haile</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, University of Southern California, CA</nlm:aff></affiliation></author><author><name sortKey="Jenkins, Mark" sort="Jenkins, Mark" uniqKey="Jenkins M" first="Mark" last="Jenkins">Mark Jenkins</name><affiliation><nlm:aff id="A16">Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane M" sort="Lindor, Noralane M" uniqKey="Lindor N" first="Noralane M" last="Lindor">Noralane M. Lindor</name><affiliation><nlm:aff id="A20">Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, AZ, USA</nlm:aff></affiliation></author><author><name sortKey="Newcomb, Polly" sort="Newcomb, Polly" uniqKey="Newcomb P" first="Polly" last="Newcomb">Polly Newcomb</name><affiliation><nlm:aff id="A12">Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA</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="A21">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Apicella, Carmel" sort="Apicella, Carmel" uniqKey="Apicella C" first="Carmel" last="Apicella">Carmel Apicella</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Park, Daniel J" sort="Park, Daniel J" uniqKey="Park D" first="Daniel J" last="Park">Daniel J. Park</name><affiliation><nlm:aff id="A22">Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name><affiliation><nlm:aff id="A23">Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK</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="A24">Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK</nlm:aff></affiliation></author><author><name sortKey="Silva, Isabel Dos Santos" sort="Silva, Isabel Dos Santos" uniqKey="Silva I" first="Isabel Dos Santos" last="Silva">Isabel Dos Santos Silva</name><affiliation><nlm:aff id="A23">Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation><nlm:aff id="A25">Centre National de Genotypage, Evry, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Fondation Jean Dausset – CEPH, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Hunter, David J" sort="Hunter, David J" uniqKey="Hunter D" first="David J" last="Hunter">David J. Hunter</name><affiliation><nlm:aff id="A27">Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Chanock, Stephen J" sort="Chanock, Stephen J" uniqKey="Chanock S" first="Stephen J" last="Chanock">Stephen J. Chanock</name><affiliation><nlm:aff id="A28">Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA</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="A29">Clinic of Gynaecology and Obstetrics, Division for Gynaecological Tumor-Genetics, Technische Universität München, München, 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="A30">Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco-Oncology, University of Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Müller-Myhsok">Bertram Müller-Myhsok</name><affiliation><nlm:aff id="A31">Max Planck Institute of Psychiatry, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Lochmann, Magdalena" sort="Lochmann, Magdalena" uniqKey="Lochmann M" first="Magdalena" last="Lochmann">Magdalena Lochmann</name><affiliation><nlm:aff id="A29">Clinic of Gynaecology and Obstetrics, Division for Gynaecological Tumor-Genetics, Technische Universität München, München, Germany</nlm:aff></affiliation></author><author><name sortKey="Beckmann, Lars" sort="Beckmann, Lars" uniqKey="Beckmann L" first="Lars" last="Beckmann">Lars Beckmann</name><affiliation><nlm:aff id="A32">Foundation for Quality and Efficiency in Health Care IQWIG, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Hein, Rebecca" sort="Hein, Rebecca" uniqKey="Hein R" first="Rebecca" last="Hein">Rebecca Hein</name><affiliation><nlm:aff id="A7">Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A33">PMV Research Group at the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany</nlm:aff></affiliation></author><author><name sortKey="Makalic, Enes" sort="Makalic, Enes" uniqKey="Makalic E" first="Enes" last="Makalic">Enes Makalic</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Daniel F" sort="Schmidt, Daniel F" uniqKey="Schmidt D" first="Daniel F" last="Schmidt">Daniel F. Schmidt</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Bui, Quang Minh" sort="Bui, Quang Minh" uniqKey="Bui Q" first="Quang Minh" last="Bui">Quang Minh Bui</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Stone, Jennifer" sort="Stone, Jennifer" uniqKey="Stone J" first="Jennifer" last="Stone">Jennifer Stone</name><affiliation><nlm:aff id="A9">Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Flesch Janys, Dieter" sort="Flesch Janys, Dieter" uniqKey="Flesch Janys D" first="Dieter" last="Flesch-Janys">Dieter Flesch-Janys</name><affiliation><nlm:aff id="A34">Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A35">Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Dahmen, Norbert" sort="Dahmen, Norbert" uniqKey="Dahmen N" first="Norbert" last="Dahmen">Norbert Dahmen</name><affiliation><nlm:aff id="A36">Department of Psychiatry, University of Mainz, Mainz, Germany</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="A37">Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Aittom Ki, Kristiina" sort="Aittom Ki, Kristiina" uniqKey="Aittom Ki K" first="Kristiina" last="Aittom Ki">Kristiina Aittom Ki</name><affiliation><nlm:aff id="A38">Department of Clinical Genetics, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Blomqvist, Carl" sort="Blomqvist, Carl" uniqKey="Blomqvist C" first="Carl" last="Blomqvist">Carl Blomqvist</name><affiliation><nlm:aff id="A39">Department of Oncology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</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="A40">Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, 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="A40">Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden</nlm:aff></affiliation></author><author><name sortKey="Irwanto, Astrid" sort="Irwanto, Astrid" uniqKey="Irwanto A" first="Astrid" last="Irwanto">Astrid Irwanto</name><affiliation><nlm:aff id="A41">Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore</nlm:aff></affiliation></author><author><name sortKey="Liu, Jianjun" sort="Liu, Jianjun" uniqKey="Liu J" first="Jianjun" last="Liu">Jianjun Liu</name><affiliation><nlm:aff id="A41">Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore</nlm:aff></affiliation></author><author><name sortKey="Rahman, Nazneen" sort="Rahman, Nazneen" uniqKey="Rahman N" first="Nazneen" last="Rahman">Nazneen Rahman</name><affiliation><nlm:aff id="A42">Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK</nlm:aff></affiliation></author><author><name sortKey="Turnbull, Clare" sort="Turnbull, Clare" uniqKey="Turnbull C" first="Clare" last="Turnbull">Clare Turnbull</name><affiliation><nlm:aff id="A42">Section of Cancer Genetics, Institute of Cancer Research, Sutton, 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="A43">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Pharoah, Paul" sort="Pharoah, Paul" uniqKey="Pharoah P" first="Paul" last="Pharoah">Paul Pharoah</name><affiliation><nlm:aff id="A21">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Waisfisz, Quinten" sort="Waisfisz, Quinten" uniqKey="Waisfisz Q" first="Quinten" last="Waisfisz">Quinten Waisfisz</name><affiliation><nlm:aff id="A44">Department of Clinical Genetics, VU University Medical Center, section Oncogenetics, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Meijers Heijboer, Hanne" sort="Meijers Heijboer, Hanne" uniqKey="Meijers Heijboer H" first="Hanne" last="Meijers-Heijboer">Hanne Meijers-Heijboer</name><affiliation><nlm:aff id="A44">Department of Clinical Genetics, VU University Medical Center, section Oncogenetics, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="Andre G." last="Uitterlinden">Andre G. Uitterlinden</name><affiliation><nlm:aff id="A45">Department of Internal Medicine and Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rivadeneira, Fernando" sort="Rivadeneira, Fernando" uniqKey="Rivadeneira F" first="Fernando" last="Rivadeneira">Fernando Rivadeneira</name><affiliation><nlm:aff id="A45">Department of Internal Medicine and Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Nicolae, Dan" sort="Nicolae, Dan" uniqKey="Nicolae D" first="Dan" last="Nicolae">Dan Nicolae</name><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</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="A21">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Cox, Nancy J" sort="Cox, Nancy J" uniqKey="Cox N" first="Nancy J" last="Cox">Nancy J. Cox</name><affiliation><nlm:aff id="A2">Department of Medicine, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Human Genetics, University of Chicago, IL</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Comprehensive Cancer Center, University of Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Whittemore, Alice S" sort="Whittemore, Alice S" uniqKey="Whittemore A" first="Alice S" last="Whittemore">Alice S. Whittemore</name><affiliation><nlm:aff id="A5">Department of Health Research and Policy, Stanford University School of Medicine, CA</nlm:aff></affiliation><affiliation><nlm:aff id="A46">Stanford Cancer Institute, Palo Alto, CA</nlm:aff></affiliation></author></analytic><series><title level="j">Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology</title><idno type="ISSN">1055-9965</idno><idno type="eISSN">1538-7755</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 SNPs among a discovery set of 3,523 EOBC incident case and 2,702 population control women aged <=51 years. The SNPs with smallest P-values were examined in a replication set of 3,470 EOBC case and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P-values to obtain a gene-based P-value. We examined the gene with smallest P-value for replication in 1,145 breast cancer case and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC (P<4×10<sup>−8</sup>) located in six genomic regions previously reported to contain SNPs associated largely with later-onset breast cancer (LOBC). SNP rs2229882 and 10 other SNPs on chromosome 5q11.2 remained associated (P<6×10<sup>−4</sup>) after adjustment for the strongest published SNPs in the region. Thirty-two of the 82 currently known LOBC SNPs were associated with EOBC (P<0.05). Low power is likely responsible for the remaining 50 unassociated known LOBC SNPs. The gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genomewide gene-based threshold of 2.5×10<sup>−6</sup>. In conclusion, EOBC and LOBC appear to have similar genetic etiologies; the 5q11.2 region may contain multiple distinct breast cancer loci; and the PFKM gene region is worthy of further investigation. These findings should enhance our understanding of the etiology of breast cancer.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9200608</journal-id><journal-id journal-id-type="pubmed-jr-id">2299</journal-id><journal-id journal-id-type="nlm-ta">Cancer Epidemiol Biomarkers Prev</journal-id><journal-id journal-id-type="iso-abbrev">Cancer Epidemiol. Biomarkers Prev.</journal-id><journal-title-group><journal-title>Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology</journal-title></journal-title-group><issn pub-type="ppub">1055-9965</issn><issn pub-type="epub">1538-7755</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24493630</article-id><article-id pub-id-type="pmc">3990360</article-id><article-id pub-id-type="doi">10.1158/1055-9965.EPI-13-0340</article-id><article-id pub-id-type="manuscript">NIHMS563387</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A Genome-wide Association Study of Early-onset Breast Cancer Identifies <italic>PFKM</italic> as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ahsan</surname><given-names>Habibul</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref><xref rid="FN1" ref-type="author-notes">#</xref></contrib><contrib contrib-type="author"><name><surname>Halpern</surname><given-names>Jerry</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Kibriya</surname><given-names>Muhammad G</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Pierce</surname><given-names>Brandon L</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Tong</surname><given-names>Lin</given-names></name><xref ref-type="aff" 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contrib-type="author"><name><surname>Dunning</surname><given-names>Alison M.</given-names></name><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Pharoah</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="A21">21</xref><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Waisfisz</surname><given-names>Quinten</given-names></name><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Meijers-Heijboer</surname><given-names>Hanne</given-names></name><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Uitterlinden</surname><given-names>Andre G.</given-names></name><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Rivadeneira</surname><given-names>Fernando</given-names></name><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Nicolae</surname><given-names>Dan</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F</given-names></name><xref ref-type="aff" rid="A21">21</xref><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Cox</surname><given-names>Nancy J</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Whittemore</surname><given-names>Alice S</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A46">46</xref></contrib></contrib-group><aff id="A1"><label>1</label>Center for Cancer Epidemiology and Prevention, Departments of Health Studies, University of Chicago, IL</aff><aff id="A2"><label>2</label>Department of Medicine, University of Chicago, IL</aff><aff id="A3"><label>3</label>Department of Human Genetics, University of Chicago, IL</aff><aff id="A4"><label>4</label>Comprehensive Cancer Center, University of Chicago, IL</aff><aff id="A5"><label>5</label>Department of Health Research and Policy, Stanford University School of Medicine, CA</aff><aff id="A6"><label>6</label>Epidemiology and Genetics Research Program, National Cancer Institute, MD</aff><aff id="A7"><label>7</label>Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany</aff><aff id="A8"><label>8</label>Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto Ontario</aff><aff id="A9"><label>9</label>Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Australia</aff><aff id="A10"><label>10</label>Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Australia</aff><aff id="A11"><label>11</label>Cancer Prevention Institute of California, Fremont, CA and Department of Health Research and Policy, Stanford University School of Medicine and Stanford Cancer Institute, Stanford, CA</aff><aff id="A12"><label>12</label>Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA</aff><aff id="A13"><label>13</label>Norway Cancer Registry, Norway</aff><aff id="A14"><label>14</label>Department of Epidemiology, University of North Carolina at Chapel Hill, NC</aff><aff id="A15"><label>15</label>Department of Preventive Medicine, University of Southern California, CA</aff><aff id="A16"><label>16</label>Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia</aff><aff id="A17"><label>17</label>Department of Environmental Health Sciences, Columbia University Mailman School of Public Health</aff><aff id="A18"><label>18</label>Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ</aff><aff id="A19"><label>19</label>Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada</aff><aff id="A20"><label>20</label>Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, AZ, USA</aff><aff id="A21"><label>21</label>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff><aff id="A22"><label>22</label>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Australia</aff><aff id="A23"><label>23</label>Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK</aff><aff id="A24"><label>24</label>Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK</aff><aff id="A25"><label>25</label>Centre National de Genotypage, Evry, France</aff><aff id="A26"><label>26</label>Fondation Jean Dausset – CEPH, Paris, France</aff><aff id="A27"><label>27</label>Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA</aff><aff id="A28"><label>28</label>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA</aff><aff id="A29"><label>29</label>Clinic of Gynaecology and Obstetrics, Division for Gynaecological Tumor-Genetics, Technische Universität München, München, Germany</aff><aff id="A30"><label>30</label>Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco-Oncology, University of Cologne, Germany</aff><aff id="A31"><label>31</label>Max Planck Institute of Psychiatry, Munich, Germany</aff><aff id="A32"><label>32</label>Foundation for Quality and Efficiency in Health Care IQWIG, Cologne, Germany</aff><aff id="A33"><label>33</label>PMV Research Group at the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany</aff><aff id="A34"><label>34</label>Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany</aff><aff id="A35"><label>35</label>Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany</aff><aff id="A36"><label>36</label>Department of Psychiatry, University of Mainz, Mainz, Germany</aff><aff id="A37"><label>37</label>Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A38"><label>38</label>Department of Clinical Genetics, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A39"><label>39</label>Department of Oncology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A40"><label>40</label>Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden</aff><aff id="A41"><label>41</label>Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore</aff><aff id="A42"><label>42</label>Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK</aff><aff id="A43"><label>43</label>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK</aff><aff id="A44"><label>44</label>Department of Clinical Genetics, VU University Medical Center, section Oncogenetics, Amsterdam, The Netherlands</aff><aff id="A45"><label>45</label>Department of Internal Medicine and Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands</aff><aff id="A46"><label>46</label>Stanford Cancer Institute, Palo Alto, CA</aff><author-notes><corresp id="FN1"><label>#</label>Correspondence to: Habibul Ahsan, Louis Block Professor of Health Studies, Medicine and Human Genetics, University of Chicago Medical Center, 5841 S. Maryland Ave, Chicago, IL 60615, USA. Tel: +1 773 834 9956; <email>habib@uchicago.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>28</day><month>3</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>03</day><month>2</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>4</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>4</month><year>2015</year></pub-date><volume>23</volume><issue>4</issue><fpage>658</fpage><lpage>669</lpage><pmc-comment>elocation-id from pubmed: 10.1158/1055-9965.EPI-13-0340</pmc-comment>
<abstract><p id="P1">Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 SNPs among a discovery set of 3,523 EOBC incident case and 2,702 population control women aged <=51 years. The SNPs with smallest P-values were examined in a replication set of 3,470 EOBC case and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P-values to obtain a gene-based P-value. We examined the gene with smallest P-value for replication in 1,145 breast cancer case and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC (P<4×10<sup>−8</sup>) located in six genomic regions previously reported to contain SNPs associated largely with later-onset breast cancer (LOBC). SNP rs2229882 and 10 other SNPs on chromosome 5q11.2 remained associated (P<6×10<sup>−4</sup>) after adjustment for the strongest published SNPs in the region. Thirty-two of the 82 currently known LOBC SNPs were associated with EOBC (P<0.05). Low power is likely responsible for the remaining 50 unassociated known LOBC SNPs. The gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genomewide gene-based threshold of 2.5×10<sup>−6</sup>. In conclusion, EOBC and LOBC appear to have similar genetic etiologies; the 5q11.2 region may contain multiple distinct breast cancer loci; and the PFKM gene region is worthy of further investigation. These findings should enhance our understanding of the etiology of breast cancer.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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