Evidence map›Paper›PMID 32115800›Full record

ArticleGenetic epidemiology2020

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

Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, Jirong Long, Zomoroda Abu-Full, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou and 249 more

Abstract read
In one paragraph

Article in Genetic epidemiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
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  8. Observational
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  16. Challenges and Opportunities for Data Science in Women's Health.Annual review of biomedical data science · 2023
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  19. Identifying Biomarkers Using Support Vector Machine to Understand the Racial Disparity in Triple-Negative Breast Cancer.Journal of computational biology : a journal of computational molecular cell biology · 2023
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

259 authors.

Helian FengProgram in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Alexander GusevDana-Farber Cancer Institute, Boston, Massachusetts.
Bogdan PasaniucUCLA Path & Lab Med, Los Angeles, California.
Lang WuEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Zomoroda Abu-FullClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Irene L AndrulisFred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Hoda Anton-CulverDepartment of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Adalgeir ArasonDepartment of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.
Banu K ArunDepartment of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas.
Ella AsseryanisDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Paul L AuerCancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Jacopo AzzolliniUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Judith BalmañaHigh Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Rosa B BarkardottirDepartment of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
Daniel R BarnesCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Javier BenitezCentro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Marina BermishevaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Katarzyna BiałkowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Ana BlancoCentro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Carl BlomqvistDepartment of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Bram BoeckxVIB Center for Cancer Biology, VIB, Leuven, Belgium.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Bernardo BonanniDivision of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Ake BorgDepartment of Oncology, Lund University and Skåne University Hospital, Lund, Sweden.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ignacio BricenoInstitute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
Annegien BroeksDivision of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Thomas BrüningInstitute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.
Barbara BurwinkelMolecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Trinidad CaldésMedical 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.
Maria A CaligoSection of Molecular Genetics, Dept, of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
Ian CampbellResearch Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Sander CanisiusDivision of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Daniele CampaGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Brian D CarterBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, Georgia.
Jonathan CarterDepartment of Gynaecological Oncology, Chris OÕBrien Lifehouse and The University of Sydney, Camperdown, New South Wales, Australia.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Hans ChristiansenDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, New York.
Kathleen B M ClaesCentre for Medical Genetics, Ghent University, Gent, Belgium.
Christine L ClarkeWestmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
GEMO Study CollaboratorsDepartment of Tumour Biology, INSERM U830, Paris, France.
EMBRACE CollaboratorsCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
GC-HBOC study CollaboratorsCenter for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Angela CoxDepartment of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Cezary CybulskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Miguel de la HoyaMedical 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.
Kim De LeeneerCentre for Medical Genetics, Ghent University, Gent, Belgium.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Orland DiezHereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall dHebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Barcelona, Spain.
Susan M DomchekDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Isabel Dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Miriam DwekDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
Diana M EcclesCancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Carolina EllbergDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Florentia FostiraMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritosဩ, Athens, Greece.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Lin FritschiSchool of Public Health, Curtin University, Perth, Western Australia, Australia.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Patricia A GanzSchools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, California.
Susan M GapsturBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, Georgia.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
José A García-SáenzMedical 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.
Mia M GaudetBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, Georgia.
Graham G GilesCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Gord GlendonFred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, Kanas.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, Quebec, Canada.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
Anna González-NeiraHuman Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Pascal GuénelCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Christopher HakeCity of Hope Clinical Cancer Genetics Community Research Network, Duarte, California.
Wei HeDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jane HeyworthSchool of Population and Global Health, The University of Western Australia, Perth, Western Australia, Australia.
Frans B L HogervorstFamily Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Antoinette HollestelleDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Maartje J HooningDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Robert N HooverDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Guanmengqian HuangMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Evgeny N ImyanitovNN Petrov Institute of Oncology, St. Petersburg, Russia.
ABCTB InvestigatorsAustralian Breast Cancer Tissue Bank, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
HEBON InvestigatorsThe Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Coordinating Center, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
BCFR InvestigatorsDepartment of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California.
OCGN InvestigatorsOntario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia.
Milena JakimovskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D, Efremov', Macedonian Academy of Sciences and Arts, Skopje Republic of North Macedonia, North Macedonia.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Paul JamesSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Ramunas JanaviciusState Research Institute Innovative Medicine Center, Vilnius, Lithuania.
Rachel C JankowitzDepartment of Medicine, Division of Hematology/Oncology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Esther M JohnDepartment of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California.
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Vijai JosephClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York.
Audrey JungDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Beth Y KarlanDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, California.
Elza KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Johanna I KiiskiDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritosဩ, Athens, Greece.
Vessela N KristensenDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
Diether LambrechtsVIB Center for Cancer Biology, VIB, Leuven, Belgium.
Conxi LazaroMolecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Bellvitge Biomedical Research Institute, Catalan Institute of Oncology), CIBERONC, Barcelona, Spain.
Dominique LerouxDepartement de Ge netique, CHU de Grenoble, Grenoble, France.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jenny LesterDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, California.
Fabienne LesueurInstitut Curie, Paris, France.
Noralane LindorDepartment of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona.
Sara LindströmDepartment of Epidemiology, University of Washington School of Public Health, Seattle, Washington.
Wing-Yee LoDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Jennifer T LoudClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
Jan LubińskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Enes MakalicCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Mehdi ManoochehriMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Sara MargolinDepartment of Oncology, Sšdersjukhuset, Stockholm, Sweden.
John W M MartensDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Maria E MartinezMoores Cancer Center, University of California San Diego, La Jolla, California.
Laura MatricardiImmunology and Molecular Oncology Unit, Veneto Institute of Oncology ÊIOV-IRCCS, Padua, Italy.
Tabea MaurerCancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Alfons MeindlDepartment of Gynecology and Obstetrics, Ludwig Maximilian University of Munich, Munich, Germany.
Usha MenonMRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, UK.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Pooja M KapoorDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Austin MillerNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology ÊIOV-IRCCS, Padua, Italy.
Fernando MorenoMedical 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.
Lidia MoserleImmunology and Molecular Oncology Unit, Veneto Institute of Oncology ÊIOV-IRCCS, Padua, Italy.
Anna M MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Taru A MuranenDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Ines NevelsteenLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Finn C NielsenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Liene Nikitina-ZakeLatvian Biomedical Research and Study Centre, Riga, Latvia.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Håkan OlssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Ana OsorioCentro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Janos PappDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Michael T ParsonsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Inge S PedersenSection of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Ana PeixotoDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Paolo PeterlongoGenome Diagnostics Program, IFOM-The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kelly-Anne PhillipsResearch Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D, Efremov', Macedonian Academy of Sciences and Arts, Skopje Republic of North Macedonia, North Macedonia.
Bruce PoppeCentre for Medical Genetics, Ghent University, Gent, Belgium.
Nisha PradhanClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York.
Karolina PrajzendancDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Nadege PresneauDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
Kevin PunieLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Johanna RantalaClinical Genetics, Karolinska Institutet, Stockholm, Sweden.
Muhammad Usman RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Harvey A RischDepartment of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut.
Mark RobsonClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York.
Atocha RomeroMedical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
Catarina SantosDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Elinor J SawyerResearch Oncology, GuyÕs Hospital, King's College London, London, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Daniel F SchmidtCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Rita K SchmutzlerCenter for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Minouk J SchoemakerDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Rodney J ScottDivision of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia.
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, Kanas.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Quebec-Universite Laval, Research Center, Quebec City, Qubec, Canada.
Christian F SingerDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Anne-Bine SkytteDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Quebec-Universite Laval, Research Center, Quebec City, Qubec, Canada.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
John J SpinelliPopulation Oncology, BC Cancer, Vancouver, British of Columbia, Canada.
Amanda B SpurdleDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Anthony J SwerdlowDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
William J TapperFaculty of Medicine, University of Southampton, Southampton, UK.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York.
Alex TeuléGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
Kathrin ThöneCancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Darcy L ThullDepartment of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio.
Rob A E M TollenaarDepartment of Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Diana TorresInstitute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
Thérèse TruongCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Celine M VachonDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota.
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ans M W van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Arcadia, South Africa.
Ana VegaCentro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Alessandra VielDivision of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
Paula Vieiro-BaloHospital Clínico Universitario (SERGAS), Universidad de Santiago de Compostela, CIMUS, Santiago de Compostela, España.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Barbara WappenschmidtCenter for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Clarice R WeinbergBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
Jeffrey N WeitzelClinical Cancer Genomics, City of Hope, Duarte, California.
Camilla WendtDepartment of Clinical Science and Education, Sšdersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Xiaohong R YangDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritosဩ, Athens, Greece.
Argyrios ZiogasDepartment of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California.
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Xia JiangProgram in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ben Ho Park · 1995 to 2026
$172.8M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, TAMIMI, RULLA M · 2000 to 2019
$77.8M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI MARCUS S NOEL · 1990 to 2026
$71.5M
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENJAMIN CARLISLE CALHOUN · 1992 to 2026
$59.3M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Understanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4M
CALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7M
Cancer Research UK 10119Cancer Research UK 14136Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK 20861Cancer Research UK 23382Cancer Research UK 26886Cancer Research UK C12292/A11174Cancer Research UK C1275/A11699Cancer Research UK C1275/A15956Cancer Research UK C1275/A19187Cancer Research UK C1275/C22524Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A16563Cancer Research UK C18281/A19169Cancer Research UK C490/A10124Cancer Research UK C490/A16561Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C570/A16491Cancer Research UK C8197/A16565Cancer Research UK C8221/A19170Cancer Research UK C8620/A8372/A15106Department of Health IS‐BRC‐1215‐20007Department of Health PGFAR 0707‐10031FIC NIH HHS D43 TW009112Intramural NIH HHS Z01 CP010119Intramural NIH HHS Z01 ES044005Intramural NIH HHS Z01 ES049030Intramural NIH HHS Z01 ES049033Intramural NIH HHS ZIA ES102245Medical Research Council 1000143Medical Research Council G0401527Medical Research Council G0500300Medical Research Council G1000143Medical Research Council MC_PC_14105Medical Research Council MC_UU_12023/20Medical Research Council MR/M012190/1Medical Research Council MR/N003284/1NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001881NCI NIH HHS K07 CA092044NCI NIH HHS K24 CA169004NCI NIH HHS N01 CN025403NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS N02CP21003NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA051008NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA047147NCI NIH HHS R01 CA047305NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA069664NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA089085NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA120120NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA140286NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA177150NCI NIH HHS R01 CA192393NCI NIH HHS R03 CA224196NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA058860NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA176726NCI NIH HHS U01 CA179715NCI NIH HHS U01 CA199277NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156733NCI NIH HHS UM1 CA164917NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA182910NCI NIH HHS UM1 CA186107NHGRI NIH HHS R01 HG009120NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100002INHLBI NIH HHS HHSN268201100003INHLBI NIH HHS HHSN268201100004INHLBI NIH HHS HHSN268201100046CNIA NIH HHS HHSN271201100004CNIGMS NIH HHS P20 GM130423NIMH NIH HHS R01 MH101244WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
6 · The paper itself

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.

Indexed as

Genome-Wide Association StudyBreast NeoplasmsEstrogensFemaleGenetic Predisposition to DiseaseGenomicsHumansReceptors, EstrogenRisk AssessmentTranscriptomeVesicular Transport ProteinsEstrogensReceptors, EstrogenSTXBP4 protein, humanVesicular Transport Proteinsbreast cancer subtypecausal geneGWASTWAS

Identifiers

PMID32115800
PMCPMC7987299

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