Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.,Genetic Epidemiology

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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Genetic Epidemiology ( IF 1.7 ) Pub Date : 2020-03-01 , DOI: 10.1002/gepi.22288
Helian Feng _{1,

2,

3} , Alexander Gusev ₄ , Bogdan Pasaniuc ₅ , Lang Wu ₆ , Jirong Long ₇ , Zomoroda Abu-Full ₈ , Kristiina Aittomäki ₉ , Irene L Andrulis _{10,

11} , Hoda Anton-Culver ₁₂ , Antonis C Antoniou ₁₃ , Adalgeir Arason _{14,

15} , Volker Arndt ₁₆ , Kristan J Aronson ₁₇ , Banu K Arun ₁₈ , Ella Asseryanis ₁₉ , Paul L Auer _{20,

21} , Jacopo Azzollini ₂₂ , Judith Balmaña ₂₃ , Rosa B Barkardottir _{14,

15} , Daniel R Barnes ₁₃ , Daniel Barrowdale ₁₃ , Matthias W Beckmann ₂₄ , Sabine Behrens ₂₅ , Javier Benitez _{26,

27} , Marina Bermisheva ₂₈ , Katarzyna Białkowska ₂₉ , Ana Blanco _{26,

30,

31} , Carl Blomqvist _{32,

33} , Bram Boeckx _{34,

35} , Natalia V Bogdanova _{36,

37,

38} , Stig E Bojesen _{39,

40,

41} , Manjeet K Bolla ₁₃ , Bernardo Bonanni ₄₂ , Ake Borg ₄₃ , Hiltrud Brauch _{44,

45,

46} , Hermann Brenner _{16,

46,

47} , Ignacio Briceno _{48,

49} , Annegien Broeks ₅₀ , Thomas Brüning ₅₁ , Barbara Burwinkel _{52,

53} , Qiuyin Cai ₇ , Trinidad Caldés ₅₄ , Maria A Caligo ₅₅ , Ian Campbell _{56,

57} , Sander Canisius _{50,

58} , Daniele Campa ₅₉ , Brian D Carter ₆₀ , Jonathan Carter ₆₁ , Jose E Castelao ₆₂ , Jenny Chang-Claude _{25,

63} , Stephen J Chanock ₆₄ , Hans Christiansen ₃₆ , Wendy K Chung ₆₅ , Kathleen B M Claes ₆₆ , Christine L Clarke ₆₇ , _{68,

69,

70} , ₁₃ , ₇₁ , Fergus J Couch ₇₂ , Angela Cox ₇₃ , Simon S Cross ₇₄ , Cezary Cybulski ₂₉ , Kamila Czene ₇₅ , Mary B Daly ₇₆ , Miguel de la Hoya ₅₄ , Kim De Leeneer ₆₆ , Joe Dennis ₁₃ , Peter Devilee _{77,

78} , Orland Diez _{79,

80} , Susan M Domchek ₈₁ , Thilo Dörk ₃₇ , Isabel Dos-Santos-Silva ₈₂ , Alison M Dunning ₈₃ , Miriam Dwek ₈₄ , Diana M Eccles ₈₅ , Bent Ejlertsen ₈₆ , Carolina Ellberg ₈₇ , Christoph Engel _{88,

89} , Mikael Eriksson ₇₅ , Peter A Fasching _{24,

90} , Olivia Fletcher ₉₁ , Henrik Flyger ₉₂ , Florentia Fostira ₉₃ , Eitan Friedman _{94,

95} , Lin Fritschi ₉₆ , Debra Frost ₁₃ , Marike Gabrielson ₇₅ , Patricia A Ganz ₉₇ , Susan M Gapstur ₆₀ , Judy Garber ₉₈ , Montserrat García-Closas _{64,

99,

100} , José A García-Sáenz ₅₄ , Mia M Gaudet ₆₀ , Graham G Giles _{101,

102} , Gord Glendon ₁₀ , Andrew K Godwin ₁₀₃ , Mark S Goldberg _{104,

105} , David E Goldgar ₁₀₆ , Anna González-Neira ₂₇ , Mark H Greene ₁₀₇ , Jacek Gronwald ₂₉ , Pascal Guénel ₁₀₈ , Christopher A Haiman ₁₀₉ , Per Hall _{75,

110} , Ute Hamann ₁₁₁ , Christopher Hake ₁₁₂ , Wei He ₇₅ , Jane Heyworth ₁₁₃ , Frans B L Hogervorst ₁₁₄ , Antoinette Hollestelle ₁₁₅ , Maartje J Hooning ₁₁₅ , Robert N Hoover ₆₄ , John L Hopper ₁₀₁ , Guanmengqian Huang ₁₁₁ , Peter J Hulick _{116,

117} , Keith Humphreys ₇₅ , Evgeny N Imyanitov ₁₁₈ , ₁₁₉ , ₁₂₀ , ₁₂₁ , ₁₂₂ , Claudine Isaacs ₁₂₃ , Milena Jakimovska ₁₂₄ , Anna Jakubowska _{29,

125} , Paul James _{57,

126} , Ramunas Janavicius ₁₂₇ , Rachel C Jankowitz ₁₂₈ , Esther M John ₁₂₁ , Nichola Johnson ₉₁ , Vijai Joseph ₁₂₉ , Audrey Jung ₂₅ , Beth Y Karlan ₁₃₀ , Elza Khusnutdinova _{28,

131} , Johanna I Kiiski ₁₃₂ , Irene Konstantopoulou ₉₃ , Vessela N Kristensen _{133,

134} , Yael Laitman ₉₄ , Diether Lambrechts _{34,

35} , Conxi Lazaro ₁₃₅ , Dominique Leroux ₁₃₆ , Goska Leslie ₁₃ , Jenny Lester ₁₃₀ , Fabienne Lesueur _{69,

70,

137} , Noralane Lindor ₁₃₈ , Sara Lindström _{139,

140} , Wing-Yee Lo _{44,

45} , Jennifer T Loud ₁₀₇ , Jan Lubiński ₂₉ , Enes Makalic ₁₀₁ , Arto Mannermaa _{141,

142,

143} , Mehdi Manoochehri ₁₁₁ , Siranoush Manoukian ₂₂ , Sara Margolin _{110,

144} , John W M Martens ₁₁₅ , Maria E Martinez _{145,

146} , Laura Matricardi ₁₄₇ , Tabea Maurer ₆₃ , Dimitrios Mavroudis ₁₄₈ , Lesley McGuffog ₁₃ , Alfons Meindl ₁₄₉ , Usha Menon ₁₅₀ , Kyriaki Michailidou _{13,

151} , Pooja M Kapoor _{25,

152} , Austin Miller ₁₅₃ , Marco Montagna ₁₄₇ , Fernando Moreno ₅₄ , Lidia Moserle ₁₄₇ , Anna M Mulligan _{154,

155} , Taru A Muranen ₁₃₂ , Katherine L Nathanson ₈₁ , Susan L Neuhausen ₁₅₆ , Heli Nevanlinna ₁₃₂ , Ines Nevelsteen ₁₅₇ , Finn C Nielsen ₁₅₈ , Liene Nikitina-Zake ₁₅₉ , Kenneth Offit _{129,

160} , Edith Olah ₁₆₁ , Olufunmilayo I Olopade ₁₆₂ , Håkan Olsson ₈₇ , Ana Osorio _{26,

27} , Janos Papp ₁₆₁ , Tjoung-Won Park-Simon ₃₇ , Michael T Parsons ₁₆₃ , Inge S Pedersen ₁₆₄ , Ana Peixoto ₁₆₅ , Paolo Peterlongo ₁₆₆ , Julian Peto ₈₂ , Paul D P Pharoah _{13,

83} , Kelly-Anne Phillips _{56,

57,

101,

167} , Dijana Plaseska-Karanfilska ₁₂₄ , Bruce Poppe ₆₆ , Nisha Pradhan ₁₂₉ , Karolina Prajzendanc ₂₉ , Nadege Presneau ₈₄ , Kevin Punie ₁₅₇ , Katri Pylkäs _{168,

169} , Paolo Radice ₁₇₀ , Johanna Rantala ₁₇₁ , Muhammad Usman Rashid _{111,

172} , Gad Rennert ₈ , Harvey A Risch ₁₇₃ , Mark Robson ₁₆₀ , Atocha Romero ₁₇₄ , Emmanouil Saloustros ₁₇₅ , Dale P Sandler ₁₇₆ , Catarina Santos ₁₆₅ , Elinor J Sawyer ₁₇₇ , Marjanka K Schmidt _{50,

178} , Daniel F Schmidt _{101,

179} , Rita K Schmutzler _{71,

180} , Minouk J Schoemaker ₉₉ , Rodney J Scott _{181,

182,

183} , Priyanka Sharma ₁₈₄ , Xiao-Ou Shu ₇ , Jacques Simard ₁₈₅ , Christian F Singer ₁₉ , Anne-Bine Skytte ₁₈₆ , Penny Soucy ₁₈₅ , Melissa C Southey _{187,

188} , John J Spinelli _{189,

190} , Amanda B Spurdle ₁₆₃ , Jennifer Stone _{101,

191} , Anthony J Swerdlow _{99,

192} , William J Tapper ₁₉₃ , Jack A Taylor _{176,

194} , Manuel R Teixeira _{165,

195} , Mary Beth Terry ₁₉₆ , Alex Teulé ₁₉₇ , Mads Thomassen ₁₉₈ , Kathrin Thöne ₆₃ , Darcy L Thull ₁₉₉ , Marc Tischkowitz _{200,

201} , Amanda E Toland ₂₀₂ , Rob A E M Tollenaar ₂₀₃ , Diana Torres _{48,

111} , Thérèse Truong ₁₀₈ , Nadine Tung ₂₀₄ , Celine M Vachon ₂₀₅ , Christi J van Asperen ₂₀₆ , Ans M W van den Ouweland ₂₀₇ , Elizabeth J van Rensburg ₂₀₈ , Ana Vega _{26,

30,

31} , Alessandra Viel ₂₀₉ , Paula Vieiro-Balo ₂₁₀ , Qin Wang ₁₃ , Barbara Wappenschmidt _{71,

180} , Clarice R Weinberg ₂₁₁ , Jeffrey N Weitzel ₂₁₂ , Camilla Wendt ₁₄₄ , Robert Winqvist _{168,

169} , Xiaohong R Yang ₆₄ , Drakoulis Yannoukakos ₉₃ , Argyrios Ziogas ₁₂ , Roger L Milne _{100,

101,

187} , Douglas F Easton _{13,

83} , Georgia Chenevix-Trench ₁₆₃ , Wei Zheng ₇ , Peter Kraft _{1,

2} , Xia Jiang _{1,

2}

Affiliation

Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Dana-Farber Cancer Institute, Boston, Massachusetts.
UCLA Path & Lab Med, Los Angeles, California.
Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Fred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California.
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.
Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas.
Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin.
Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Centro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Fundaci-n Pœblica Galega Medicina Xen-mica, Santiago De Compostela, Spain.
Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.
Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Department of Oncology, University Hospital, Karolinska Institute, Stockholm, Sweden.
VIB Center for Cancer Biology, VIB, Leuven, Belgium.
Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.
Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
NN Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden.
Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
iFIT-Cluster of Excellence, University of Tuebingen, Tuebingen, Germany.
German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
Medical Faculty, Universidad de La Sabana, Bogota, Colombia.
Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.
Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.
Medical Oncology Department, Hospital Cl'nico San Carlos, Instituto de Investigaci-n Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Section of Molecular Genetics, Dept, of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
Research Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Division of Molecular Carcinogenesis, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, Georgia.
Department of Gynaecological Oncology, Chris OÕBrien Lifehouse and The University of Sydney, Camperdown, New South Wales, Australia.
Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Departments of Pediatrics and Medicine, Columbia University, New York, New York.
Centre for Medical Genetics, Ghent University, Gent, Belgium.
Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Department of Tumour Biology, INSERM U830, Paris, France.
Institut Curie, Paris, France.
Mines ParisTech, Fontainebleau, France.
Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Department of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, UK.
Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall dHebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Barcelona, Spain.
Clinical and Molecular Genetics Area, University Hospital Vall dHebron, Barcelona, Spain.
Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.
David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, California.
The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritosဩ, Athens, Greece.
The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
School of Public Health, Curtin University, Perth, Western Australia, Australia.
Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, California.
Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts.
Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.
Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, Kanas.
Department of Medicine, McGill University, Montreal, Quebec, Canada.
Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, Quebec, Canada.
Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Department of Oncology, Sšdersjukhuset, Stockholm, Sweden.
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California.
School of Population and Global Health, The University of Western Australia, Perth, Western Australia, Australia.
Family Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois.
The University of Chicago Pritzker School of Medicine, Chicago, Illinois.
NN Petrov Institute of Oncology, St. Petersburg, Russia.
Australian Breast Cancer Tissue Bank, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Coordinating Center, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California.
Ontario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Lombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia.
Research Centre for Genetic Engineering and Biotechnology 'Georgi D, Efremov', Macedonian Academy of Sciences and Arts, Skopje Republic of North Macedonia, North Macedonia.
Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland.
Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
State Research Institute Innovative Medicine Center, Vilnius, Lithuania.
Department of Medicine, Division of Hematology/Oncology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York.
David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, California.
Department of Genetics and Fundamental Medicine, Bashkir State Medical University, Ufa, Russia.
Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Bellvitge Biomedical Research Institute, Catalan Institute of Oncology), CIBERONC, Barcelona, Spain.
Departement de Ge netique, CHU de Grenoble, Grenoble, France.
Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France.
Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona.
Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington.
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
Department of Clinical Science and Education, Sšdersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Moores Cancer Center, University of California San Diego, La Jolla, California.
Department of Family Medicine and Public Health, University of California San Diego, La Jolla, California.
Immunology and Molecular Oncology Unit, Veneto Institute of Oncology ÊIOV-IRCCS, Padua, Italy.
Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Department of Gynecology and Obstetrics, Ludwig Maximilian University of Munich, Munich, Germany.
MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, UK.
Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Faculty of Medicine, University of Heidelberg, Heidelberg, Germany.
NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California.
Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Latvian Biomedical Research and Study Centre, Riga, Latvia.
Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York.
Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Center for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Genome Diagnostics Program, IFOM-The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Department of Medicine Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.
Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Clinical Genetics, Karolinska Institutet, Stockholm, Sweden.
Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan.
Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut.
Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Department of Oncology, University Hospital of Larissa, Larissa, Greece.
Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
Research Oncology, GuyÕs Hospital, King's College London, London, UK.
Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Faculty of Information Technology, Monash University, Melbourne, Victoria, Australia.
Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia.
Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, University of Newcastle, Callaghan, New South Wales, Australia.
Hunter Medical Research Institute, John Hunter Hospital, Newcastle, New South Wales, Australia.
Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, Kanas.
Genomics Center, Centre Hospitalier Universitaire de Quebec-Universite Laval, Research Center, Quebec City, Qubec, Canada.
Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
Population Oncology, BC Cancer, Vancouver, British of Columbia, Canada.
School of Population and Public Health, University of British Columbia, Vancouver, British of Columbia, Canada.
The Curtin UWA Centre for Genetic Origins of Health and Disease, Curtin University and University of Western Australia, Perth, Western Australia, Australia.
Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
Faculty of Medicine, University of Southampton, Southampton, UK.
Epigenetic and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York.
Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada.
Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio.
Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Department of Genetics, University of Pretoria, Arcadia, South Africa.
Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
Hospital Clínico Universitario (SERGAS), Universidad de Santiago de Compostela, CIMUS, Santiago de Compostela, España.
Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
Clinical Cancer Genomics, City of Hope, Duarte, California.

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.

中文翻译：

雌激素受体状态对乳腺癌风险的全转录组关联研究。

先前的全转录组关联研究（TWAS）通过整合表达定量位点和全基因组关联研究（GWAS）的数据来识别乳腺癌风险基因，但对乳腺癌亚型特异性关联的分析有限。在这项研究中，我们使用 GTEx 的基因表达数据和迄今为止针对乳腺癌整体以及按雌激素受体亚型（ER+ 和 ER−）进行的最大 GWAS 荟萃分析的汇总统计数据进行了 TWAS。我们使用仅案例 TWAS 方法进一步比较了与 ER+ 和 ER− 亚型的关联。我们还在具有多个 TWAS 关联的区域进行了多基因条件分析。 STXBP4和HIST2H2BA这两个基因与 ER+ 乳腺癌特别相关，但与 ER- 乳腺癌无关。我们进一步确定了 30 个与总体乳腺癌风险相关的 TWAS 显着基因，其中包括 4 个在之前的研究中未发现的基因。条件分析在含有多个 TWAS 显着基因的六个区域中的三个中发现了单个独立的乳腺癌基因。我们的研究提供了有关乳腺癌遗传学和生物学的新信息，特别是有关 ER+ 和 ER− 乳腺癌之间的基因组差异的信息。

更新日期：2020-03-01

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