Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/29289
Title: Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Authors: Eriksson M.;Peterlongo P.;Peto J.;Pharoah P.D.P.;Phillips K.-A.;Plaseska-Karanfilska D.;Poppe B.;Pradhan N.;Prajzendanc K.;Presneau N.;Punie K.;Pylkas K.;Radice P.;Rantala J.;Rashid M.U.;Rennert G.;Risch H.A.;Robson M.;Romero A.;Saloustros E.;Sandler D.P.;Santos C.;Sawyer E.J.;Schmidt M.K.;Schmidt D.F.;Schmutzler R.K.;Schoemaker M.J.;Scott R.J.;Sharma P.;Shu X.-O.;Simard J.;Singer C.F.;Skytte A.-B.;Soucy P.;Southey M.C.;Spinelli J.J.;Spurdle A.B.;Stone J.;Swerdlow A.J.;Tapper W.J.;Taylor J.A.;Teixeira M.R.;Terry M.B.;Teule A.;Thomassen M.;Thone K.;Thull D.L.;Tischkowitz M.;Toland A.E.;Tollenaar R.A.E.M.;Torres D.;Truong T.;Tung N.;Vachon C.M.;van Asperen C.J.;van den Ouweland A.M.W.;van Rensburg E.J.;Vega A.;Viel A.;Vieiro-Balo P.;Wang Q.;Wappenschmidt B.;Weinberg C.R.;Weitzel J.N.;Wendt C.;Winqvist R.;Yang X.R.;Yannoukakos D.;Ziogas A.;Milne R.L.;Easton D.F.;Chenevix-Trench G.;Zheng W.;Kraft P.;Jiang X.;Feng H.;Gusev A.;Pasaniuc B.;Wu L.;Long J.;Abu-full Z.;Aittomaki K.;Andrulis I.L.;Anton-Culver H.;Antoniou A.C.;Arason A.;Arndt V.;Aronson K.J.;Arun B.K.;Asseryanis E.;Auer P.L.;Azzollini J.;Balmana J.;Barkardottir R.B.;Barnes D.R.;Barrowdale D.;Beckmann M.W.;Behrens S.;Benitez J.;Bermisheva M.;Bialkowska K.;Blanco A.;Blomqvist C.;Boeckx B.;Bogdanova N.V.;Bojesen S.E.;Bolla M.K.;Bonanni B.;Borg A.;Brauch H.;Brenner H.;Briceno I.;Broeks A.;Bruning T.;Burwinkel B.;Cai Q.;Caldes T.;Caligo M.A.;Campbell I.;Canisius S.;Campa D.;Carter B.D.;Carter J.;Castelao J.E.;Chang-Claude J.;Chanock S.J.;Christiansen H.;Chung W.K.;Claes K.B.M.;Clarke C.L.;Couch F.J.;Cox A.;Cross S.S.;Cybulski C.;Czene K.;Daly M.B.;de la Hoya M.;De Leeneer K.;Dennis J.;Devilee P.;Diez O.;Domchek S.M.;Dork T.;dos-Santos-Silva I.;Dunning A.M.;Dwek M.;Eccles D.M.;Ejlertsen B.;Ellberg C.;Engel C.;Fasching P.A.;Fletcher O.;Flyger H.;Fostira F.;Friedman E.;Fritschi L.;Frost D.;Gabrielson M.;Ganz P.A.;Gapstur S.M.;Garber J.;Garcia-Closas M.;Garcia-Saenz J.A.;Gaudet M.M.;Giles G.G.;Glendon G.;Godwin A.K.;Goldberg M.S.;Goldgar D.E.;Gonzalez-Neira A.;Greene M.H.;Gronwald J.;Guenel P.;Haiman C.A.;Hall P.;Hamann U.;Hake C.;He W.;Heyworth J.;Hogervorst F.B.L.;Hollestelle A.;Hooning M.J.;Hoover R.N.;Hopper J.L.;Huang G.;Hulick P.J.;Humphreys K.;Imyanitov E.N.;Isaacs C.;Jakimovska M.;Jakubowska A.;James P.;Janavicius R.;Jankowitz R.C.;John E.M.;Johnson N.;Joseph V.;Jung A.;Karlan B.Y.;Khusnutdinova E.;Kiiski J.I.;Konstantopoulou I.;Kristensen V.N.;Laitman Y.;Lambrechts D.;Lazaro C.;Leroux D.;Leslie G.;Lester J.;Lesueur F.;Lindor N.;Lindstrom S.;Lo W.-Y.;Loud J.T.;Lubinski J.;Makalic E.;Mannermaa A.;Manoochehri M.;Manoukian S.;Margolin S.;Martens J.W.M.;Martinez M.E.;Matricardi L.;Maurer T.;Mavroudis D.;McGuffog L.;Meindl A.;Menon U.;Michailidou K.;Kapoor P.M.;Miller A.;Montagna M.;Moreno F.;Moserle L.;Mulligan A.M.;Muranen T.A.;Nathanson K.L.;Neuhausen S.L.;Nevanlinna H.;Nevelsteen I.;Nielsen F.C.;Nikitina-Zake L.;Offit K.;Olah E.;Olopade O.I.;Olsson H.;Osorio A.;Papp J.;Park-Simon T.-W.;Parsons M.T.;Pedersen I.S.;Peixoto A.
Monash Health Department(s): Monash University - School of Clinical Sciences at Monash Health
Institution: (Feng, Kraft, Jiang) Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, MA, United States (Feng, Kraft, Jiang) Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, United States (Feng) Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, MA, United States (Gusev) Dana-Farber Cancer Institute, Boston, MA, United States (Pasaniuc) UCLA Path & Lab Med, Los Angeles, CA, United States (Wu) Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, United States (Long, Cai, Shu, Zheng) Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States (Abu-full, Rennert) Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel (Aittomaki) Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland (Andrulis, Glendon) Fred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada (Andrulis) Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada (Anton-Culver, Ziogas) Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, United States (Arason, Barkardottir) Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland (Arason, Barkardottir) BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland (Arndt, Brenner) Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany (Aronson) Department of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, Canada (Arun) Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, United States (Asseryanis, Singer) Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria (Auer) Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA, United States (Auer) Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, United States (Azzollini, Manoukian) Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy (Balmana) High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain (Beckmann, Fasching) Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany (Behrens, Chang-Claude, Jung, Kapoor) Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany (Benitez, Blanco, Osorio, Vega) Centro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain (Benitez, Gonzalez-Neira, Osorio) Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain (Bermisheva, Khusnutdinova) Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russian Federation (Bialkowska, Cybulski, Gronwald, Jakubowska, Lubinski, Prajzendanc) Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland (Blanco, Vega) Fundaci-n Poeblica Galega Medicina Xen-mica, Santiago De Compostela, Spain (Blanco, Vega) Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain (Blomqvist) Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland (Blomqvist) Department of Oncology, University Hospital, Karolinska Institute, Stockholm, Sweden (Boeckx, Lambrechts) VIB Center for Cancer Biology, VIB, Leuven, Belgium (Boeckx, Lambrechts) Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium (Bogdanova, Christiansen) Department of Radiation Oncology, Hannover Medical School, Hannover, Germany (Bogdanova, Dork, Park-Simon) Gynaecology Research Unit, Hannover Medical School, Hannover, Germany (Bogdanova) NN Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus (Bojesen) Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark (Bojesen) Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark (Bojesen) Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark (Bonanni) Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy (Borg) Department of Oncology, Lund University and Skane University Hospital, Lund, Sweden (Brauch, Lo) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany (Brauch, Lo) iFIT-Cluster of Excellence, University of Tuebingen, Tuebingen, Germany (Brauch, Brenner) German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany (Brenner) Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany (Briceno, Torres) Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia (Briceno) Medical Faculty, Universidad de La Sabana, Bogota, Colombia (Broeks, Canisius, Schmidt) Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands (Bruning) Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany (Burwinkel) Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany (Burwinkel) Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany (Caldes, de la Hoya, Garcia-Saenz, Moreno) Medical Oncology Department, Hospital Cl'nico San Carlos, Instituto de Investigaci-n Sanitaria San Carlos (IdISSC), Centro Investigacion Biomedica en Red de Cancer (CIBERONC), Madrid, Spain (Caligo) Section of Molecular Genetics, Dept, of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy (Campbell, Phillips) Research Department, Peter MacCallum Cancer Center, Melbourne, VIC, Australia (Campbell, James, Phillips) Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia (Canisius) Division of Molecular Carcinogenesis, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, Netherlands (Campa) Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany (Carter, Gapstur, Gaudet) Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, United States (Carter) Department of Gynaecological Oncology, Chris OOBrien Lifehouse and The University of Sydney, Camperdown, NSW, Australia (Castelao) Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain (Chang-Claude, Maurer, Thone) Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany (Chanock, Garcia-Closas, Hoover, Yang) Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States (Chung) Departments of Pediatrics and Medicine, Columbia University, New York, NY, United States (Claes, De Leeneer, Poppe) Centre for Medical Genetics, Ghent University, Gent, Belgium (Clarke) Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, Australia (Couch) Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States (Cox) Department of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, United Kingdom (Cross) Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom (Czene, Eriksson, Gabrielson, Hall, He, Humphreys) Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (Daly) Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States (Devilee) Department of Pathology, Leiden University Medical Center, Leiden, Netherlands (Devilee) Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands (Diez) Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall dHebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Barcelona, Spain (Diez) Clinical and Molecular Genetics Area, University Hospital Vall dHebron, Barcelona, Spain (Domchek, Nathanson) Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States (dos-Santos-Silva, Peto) Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, United Kingdom (Dunning, Pharoah, Easton) Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom (Dwek, Presneau) Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, United Kingdom (Eccles) Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, United Kingdom (Ejlertsen) Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark (Ellberg, Olsson) Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden (Engel) Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany (Engel) LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany (Fasching) David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA, United States (Fletcher, Johnson) The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, United Kingdom (Flyger) Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark (Fostira, Konstantopoulou, Yannoukakos) Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos, Athens, Greece (Friedman, Laitman) The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel (Friedman) Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel (Fritschi) School of Public Health, Curtin University, Perth, WA, Australia (Ganz) Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, CA, United States (Garber) Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, United States (Garcia-Closas, Schoemaker, Swerdlow) Division of Genetics and Epidemiology, Institute of Cancer Research, London, United Kingdom (Garcia-Closas, Milne) Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia (Giles, Hopper, Makalic, Phillips, Schmidt, Stone, Milne) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia (Giles) Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, Australia (Godwin) Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, Kanas, United States (Goldberg) Department of Medicine, McGill University, Montreal, QC, Canada (Goldberg) Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, QC, Canada (Goldgar) Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, United States (Greene, Loud) Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States (Guenel, Truong) Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France (Haiman) Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States (Hall, Margolin) Department of Oncology, Ssdersjukhuset, Stockholm, Sweden (Hamann, Huang, Manoochehri, Rashid, Torres) Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany (Hake) City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, United States (Heyworth) School of Population and Global Health, The University of Western Australia, Perth, WA, Australia (Hogervorst) Family Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands (Hollestelle, Hooning, Martens) Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, Netherlands (Hulick) Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, United States (Hulick) The University of Chicago Pritzker School of Medicine, Chicago, IL, United States (Imyanitov) NN Petrov Institute of Oncology, St. Petersburg, Russian Federation (Isaacs) Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, United States (Jakimovska, Plaseska-Karanfilska) Research Centre for Genetic Engineering and Biotechnology 'Georgi D, Efremov', Macedonian Academy of Sciences and Arts, Skopje Republic of North Macedonia, North Macedonia (Jakubowska) Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland (James) Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, VIC, Australia (Janavicius) State Research Institute Innovative Medicine Center, Vilnius, Lithuania (Jankowitz) Department of Medicine, Division of Hematology/Oncology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States (Joseph, Offit, Pradhan) Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, United States (Karlan, Lester) David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, CA, United States (Khusnutdinova) Department of Genetics and Fundamental Medicine, Bashkir State Medical University, Ufa, Russian Federation (Kiiski, Muranen, Nevanlinna) Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland (Kristensen) Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway (Kristensen) Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (Lazaro) Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Bellvitge Biomedical Research Institute, Catalan Institute of Oncology), CIBERONC, Barcelona, Spain (Leroux) Departement de Ge netique, CHU de Grenoble, Grenoble, France (Lesueur) Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France (Lindor) Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ, United States (Lindstrom) Department of Epidemiology, University of Washington School of Public Health, Seattle, WA, United States (Lindstrom) Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States (Mannermaa) Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland (Mannermaa) Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland (Mannermaa) Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland (Margolin, Wendt) Department of Clinical Science and Education, Ssdersjukhuset, Karolinska Institutet, Stockholm, Sweden (Martinez) Moores Cancer Center, University of California San Diego, La Jolla, CA, United States (Martinez) Department of Family Medicine and Public Health, University of California San Diego, La Jolla, CA, United States (Matricardi, Montagna, Moserle) Immunology and Molecular Oncology Unit, Veneto Institute of Oncology EIOV-IRCCS, Padua, Italy (Mavroudis) Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece (Meindl) Department of Gynecology and Obstetrics, Ludwig Maximilian University of Munich, Munich, Germany (Menon) MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, United Kingdom (Michailidou) Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus (Kapoor) Faculty of Medicine, University of Heidelberg, Heidelberg, Germany (Miller) NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, United States (Mulligan) Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada (Mulligan) Laboratory Medicine Program, University Health Network, Toronto, ON, Canada (Neuhausen) Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, United States (Nevelsteen, Punie) Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium (Nielsen) Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark (Nikitina-Zake) Latvian Biomedical Research and Study Centre, Riga, Latvia (Offit, Robson) Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, United States (Olah, Papp) Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary (Olopade) Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, United States (Parsons, Spurdle, Chenevix-Trench) Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia (Pedersen) Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark (Peixoto, Santos, Teixeira) Department of Genetics, Portuguese Oncology Institute, Porto, Portugal (Peterlongo) Genome Diagnostics Program, IFOM-The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy (Phillips) Department of Medicine Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia (Pylkas, Winqvist) Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland (Pylkas, Winqvist) Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland (Radice) Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy (Rantala) Clinical Genetics, Karolinska Institutet, Stockholm, Sweden (Rashid) Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan (Risch) Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, United States (Romero) Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain (Saloustros) Department of Oncology, University Hospital of Larissa, Larissa, Greece (Sandler, Taylor) Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, United States (Sawyer) Research Oncology, GuyOs Hospital, King's College London, London, United Kingdom (Schmidt) Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands (Schmidt) Faculty of Information Technology, Monash University, Melbourne, VIC, Australia (Schmutzler, Wappenschmidt) Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (Scott) Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, Australia (Scott) Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, University of Newcastle, Callaghan, NSW, Australia (Scott) Hunter Medical Research Institute, John Hunter Hospital, Newcastle, NSW, Australia (Sharma) Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, Kanas, United States (Simard, Soucy) Genomics Center, Centre Hospitalier Universitaire de Quebec-Universite Laval, Research Center, Quebec City, Qubec, Canada (Skytte) Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark (Southey, Milne) Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia (Southey) Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC, Australia (Spinelli) Population Oncology, BC Cancer, Vancouver, British of Columbia, Canada (Spinelli) School of Population and Public Health, University of British Columbia, Vancouver, British of Columbia, Canada (Stone) The Curtin UWA Centre for Genetic Origins of Health and Disease, Curtin University and University of Western Australia, Perth, WA, Australia (Swerdlow) Division of Breast Cancer Research, The Institute of Cancer Research, London, United Kingdom (Tapper) Faculty of Medicine, University of Southampton, Southampton, United Kingdom (Taylor) Epigenetic and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, United States (Teixeira) Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal (Terry) Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, United States (Teule) Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain (Thomassen) Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark (Thull) Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States (Tischkowitz) Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada (Tischkowitz) Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom (Toland) Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, United States (Tollenaar) Department of Surgery, Leiden University Medical Center, Leiden, Netherlands (Tung) Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, United States (Vachon) Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, United States (van Asperen) Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands (van den Ouweland) Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands (van Rensburg) Department of Genetics, University of Pretoria, Arcadia, South Africa (Viel) Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy (Vieiro-Balo) Hospital Clinico Universitario (SERGAS), Universidad de Santiago de Compostela, CIMUS, Santiago de Compostela, Spain (Weinberg) Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, United States (Weitzel) Clinical Cancer Genomics, City of Hope, Duarte, CA, United States
Issue Date: 17-Jun-2020
Copyright year: 2020
Publisher: Wiley-Liss Inc. (E-mail: info@wiley.com)
Place of publication: United States
Publication information: Genetic Epidemiology. 44 (5) (pp 442-468), 2020. Date of Publication: 01 Jul 2020.
Journal: Genetic Epidemiology
Abstract: Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.Copyright © 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals, Inc.
DOI: http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1002/gepi.22288
ISSN: 0741-0395
URI: https://repository.monashhealth.org/monashhealthjspui/handle/1/29289
Type: Article
Subjects: STXBP4 gene
ZNF404 gene
ZNF155 gene
HIST2H2BA gene
KANSL1 AS1 gene
L3MBTL3 gene
LRRC37A gene
LRRC37A2 gene
LRRC37A4P gene
MRPL23 AS1 gene
NUDT17 gene
RP11 15A1.7 gene
RP11 250B2.5 gene
RP11 554A11.9 gene
RP11 73O6.3 gene
cancer genetics
cancer risk
estrogen receptor negative breast cancer
estrogen receptor positive breast cancer
gene expression
gene identification
genetic association
genome-wide association study
multigene family
transcriptome sequencing
tumor gene
estrogen receptor
ALS2CR12 gene
ATG10 gene
ATP6AP1L gene
CASP8 gene
Crhr1 gene
CRHR1 IT1 gene
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