Evidence map›Paper›PMID 30988301›Full record

ArticleNature communications2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Manuel A Ferreira, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun and 206 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed, 5 pooled it
6.3field-weighted citation impact, top 3% of its field
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

79 citing papers in PubMed, 5 syntheses or guidelines pooled it, 138 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Pooled it
  5. Pooled it
  6. Review
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  14. Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
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  16. Observational
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19 more citing papers are in PubMed but not listed here.

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

216 authors at 20 institutions in 31 countries.

Manuel A FerreiraDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia. Manuel.Ferreira@qimr.edu.au.
Eric R GamazonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN, 37235, USA.ORCID http://orcid.org/0000-0003-4204-8734
Fares Al-EjehDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital, University of Helsinki, 00290, Helsinki, Finland.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.ORCID http://orcid.org/0000-0002-4226-6435
Hoda Anton-CulverDepartment of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA, 92617.
Adalgeir ArasonDepartment of Pathology, Landspitali University Hospital, 101, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0480-886X
Volker ArndtDivision of Clinical Epidemiology and Aging Research, C070, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-9320-8684
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, K7L 3N6, Canada.
Banu K ArunDepartment of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.
Ella AsseryanisDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, 1090, Vienna, Austria.
Jacopo AzzolliniUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 20133, Milan, Italy.
Judith BalmañaOncogenetics Group, Vall dHebron Institute of Oncology (VHIO), 8035, Barcelona, Spain.
Daniel R BarnesCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0002-3781-7570
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Javier BenitezCentro de Investigación en Red de Enfermedades Raras (CIBERER), 46010, Valencia, Spain.
Marina BermishevaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of Russian Academy of Sciences, 450054, Ufa, Russia.
Katarzyna BiałkowskaDepartment of Genetics and Pathology, Pomeranian Medical University, 71-252, Szczecin, Poland.
Carl BlomqvistDepartment of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, 00290, Finland.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, 30625, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730, Herlev, Denmark.ORCID http://orcid.org/0000-0002-4061-4133
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Ake BorgDepartment of Oncology, Lund University and Skåne University Hospital, 222 41, Lund, Sweden.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376, Stuttgart, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, C070, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Annegien BroeksDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, 1066 CX, Amsterdam, The Netherlands.
Barbara BurwinkelMolecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Trinidad CaldésMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), 28040, Madrid, Spain.
Maria A CaligoSection of Molecular Genetics, Dept. of Laboratory Medicine, University Hospital of Pisa, 56126, Pisa, Italy.
Daniele CampaDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Ian CampbellResearch Department, Peter MacCallum Cancer Center, Melbourne, VIC, 3000, Australia.ORCID http://orcid.org/0000-0002-7773-4155
Federico CanzianGenomic Epidemiology Group, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Jonathan CarterDepartment of Gynaecological Oncology, Chris O'Brien Lifehouse and The University of Sydney, Camperdown, NSW, 2050, Australia.
Brian D CarterBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA, 30303.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, 36312, Vigo, Spain.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20850, USA.ORCID http://orcid.org/0000-0002-2324-3393
Hans ChristiansenDepartment of Radiation Oncology, Hannover Medical School, 30625, Hannover, Germany.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, 10032, USA.
Kathleen B M ClaesCentre for Medical Genetics, Ghent University, Gent, 9000, Belgium.ORCID http://orcid.org/0000-0003-0841-7372
Christine L ClarkeWestmead Institute for Medical Research, University of Sydney, Sydney, NSW, 2145, Australia.
EMBRACE Collaborators
GC-HBOC Study Collaborators
GEMO Study Collaborators
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Angela CoxSheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, S10 2TN, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, S10 2TN, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA.
Miguel de la HoyaMolecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), 28040, Madrid, Spain.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0003-4591-1214
Peter DevileeDepartment of Pathology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.ORCID http://orcid.org/0000-0002-8023-2009
Orland DiezOncogenetics Group, Vall dHebron Institute of Oncology (VHIO), 8035, Barcelona, Spain.
Thilo DörkGynaecology Research Unit, Hannover Medical School, 30625, Hannover, Germany.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK.
Miriam DwekDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, W1B 2HW, UK.
Diana M EcclesFaculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, Copenhagen University Hospital, DK-2100, Copenhagen, Denmark.
Carolina EllbergDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, 222 42, Lund, Sweden.ORCID http://orcid.org/0000-0001-7297-0645
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.ORCID http://orcid.org/0000-0003-4885-8471
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW7 3RP, UK.ORCID http://orcid.org/0000-0001-9387-7116
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730, Herlev, Denmark.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Manuela Gago-DominguezGenomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, 15706, Santiago de Compostela, Spain.
Patricia A GanzSchools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, CA, 90096-6900, USA.
Susan M GapsturBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA, 30303.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, 02215, USA.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20850, USA.
José A García-SáenzMedical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), 28040, Madrid, Spain.ORCID http://orcid.org/0000-0001-6880-0301
Mia M GaudetBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA, 30303.
Graham G GilesCancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, VIC, 3004, Australia.
Gord GlendonFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, KS, 66160, USA.
Mark S GoldbergDepartment of Medicine, McGill University, Montréal, QC, H4A 3J1, Canada.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA.
Anna González-NeiraHuman Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), 28029, Madrid, Spain.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20850-9772, USA.ORCID http://orcid.org/0000-0003-1852-9239
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, 71-252, Szczecin, Poland.
Pascal GuénelCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94805, Villejuif, France.ORCID http://orcid.org/0000-0002-8359-518X
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Wei HeDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Jane HeyworthSchool of Population and Global Health, The University of Western Australia, Perth, WA, 6009, Australia.
Frans B L HogervorstFamily Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, 1066 CX, The Netherlands.
Antoinette HollestelleDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, 3015 CN, The Netherlands.ORCID http://orcid.org/0000-0003-1166-1966
Robert N HooverDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20850, USA.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, 60201, USA.ORCID http://orcid.org/0000-0001-8397-4078
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology. St., Petersburg, 197758, Russia.
ABCTB Investigators
HEBON Investigators
BCFR Investigators
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, 20007, USA.
Milena JakimovskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, 1000, Republic of Macedonia.ORCID http://orcid.org/0000-0002-1506-0669
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, 71-252, Szczecin, Poland.
Paul A JamesSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, 3000, Australia.ORCID http://orcid.org/0000-0002-4361-4657
Ramunas JanaviciusHematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, 08410, Lithuania.
Rachel C JankowitzDepartment of Medicine, Division of Hematology/Oncology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15232, USA.
Esther M JohnDepartment of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, 94304, USA.
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW7 3RP, UK.
Vijai JosephClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA.ORCID http://orcid.org/0000-0002-7933-151X
Beth Y KarlanDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Elza KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of Russian Academy of Sciences, 450054, Ufa, Russia.
Johanna I KiiskiDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, 00290, Finland.
Yon-Dschun KoDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, 53177, Germany.
Michael E JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece.
Vessela N KristensenDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, 0379, Norway.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
Diether LambrechtsVIB Center for Cancer Biology, VIB, Leuven, 3001, Belgium.ORCID http://orcid.org/0000-0002-3429-302X
Conxi LazaroMolecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Bellvitge Biomedical Research Institute, Catalan Institute of Oncology), CIBERONC, Barcelona, 08908, Spain.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0001-5756-6222
Jenny LesterDavid Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Fabienne LesueurGenetic Epidemiology of Cancer team, Inserm U900, Paris, 75005, France.
Sara LindströmDepartment of Epidemiology, University of Washington School of Public Health, Seattle, WA, 98195, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37232, USA.
Jennifer T LoudClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20850-9772, USA.
Jan LubińskiDepartment of Genetics and Pathology, Pomeranian Medical University, 71-252, Szczecin, Poland.
Enes MakalicCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, 70210, Finland.
Mehdi ManoochehriMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Sara MargolinDepartment of Oncology, Södersjukhuset, 118 83, Stockholm, Sweden.
Tabea MaurerCancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, 711 10, Greece.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Alfons MeindlDepartment of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, 81377, Germany.
Usha MenonMRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, WC1V 6LJ, UK.ORCID http://orcid.org/0000-0003-3708-1732
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0001-7065-1237
Austin MillerNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, 14263, USA.ORCID http://orcid.org/0000-0001-9739-8462
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, 35128, Italy.
Fernando MorenoMedical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), 28040, Madrid, Spain.
Lidia MoserleImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, 35128, Italy.
Anna Marie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A8, Canada.
Katherine L NathansonBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, 19066, USA.ORCID http://orcid.org/0000-0002-6740-0901
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, 91010, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, 00290, Finland.ORCID http://orcid.org/0000-0002-0916-2976
Ines NevelsteenLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, 3000, Belgium.
Finn C NielsenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DK-2100, Denmark.
Liene Nikitina-ZakeLatvian Biomedical Research and Study Centre, Riga, LV-1067, Latvia.ORCID http://orcid.org/0000-0003-2491-5187
Robert L NussbaumCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, 94143-1714, USA.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, 1122, Hungary.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, 60637, USA.ORCID http://orcid.org/0000-0002-9936-1599
Håkan OlssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, 222 42, Lund, Sweden.
Ana OsorioCentro de Investigación en Red de Enfermedades Raras (CIBERER), 46010, Valencia, Spain.
Janos PappDepartment of Molecular Genetics, National Institute of Oncology, Budapest, 1122, Hungary.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, 30625, Hannover, Germany.
Michael T ParsonsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.ORCID http://orcid.org/0000-0003-3242-8477
Inge Sokilde PedersenMolecular Diagnostics, Aalborg University Hospital, Aalborg, 9000, Denmark.ORCID http://orcid.org/0000-0002-9902-8040
Ana PeixotoDepartment of Genetics, Portuguese Oncology Institute, Porto, 4220-072, Portugal.
Paolo PeterlongoGenome Diagnostics Program, IFOM - the FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, 20139, Italy.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0001-8494-732X
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, 1000, Republic of Macedonia.
Bruce PoppeCentre for Medical Genetics, Ghent University, Gent, 9000, Belgium.
Nadege PresneauDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, W1B 2HW, UK.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, 20133, Italy.
Johanna RantalaClinical Genetics, Karolinska Institutet, Stockholm, 171 76, Sweden.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, 35254, Israel.ORCID http://orcid.org/0000-0002-8512-068X
Harvey A RischChronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, 06510, USA.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, 411 10, Greece.ORCID http://orcid.org/0000-0002-0485-0120
Kristin SandenCity of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, 91010, USA.
Elinor J SawyerResearch Oncology, Guy's Hospital, King's College London, London, SE1 9RT, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, 1066 CX, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-2228-429X
Rita K SchmutzlerCenter for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
Priyanka SharmaDepartment of Internal Medicine, Division of Oncology, University of Kansas Medical Center, Westwood, KS, 66205, USA.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37232, USA.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval, Research Center, Québec City, QC, G1V 4G2, Canada.
Christian F SingerDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, 1090, Vienna, Austria.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval, Research Center, Québec City, QC, G1V 4G2, Canada.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.
John J SpinelliPopulation Oncology, BC Cancer, Vancouver, BC, V5Z 1G1, Canada.ORCID http://orcid.org/0000-0002-9119-3287
Amanda B SpurdleDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, 3010, Australia.ORCID http://orcid.org/0000-0001-5077-0124
Anthony J SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
William J TapperFaculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, 27709, USA.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, 4220-072, Portugal.ORCID http://orcid.org/0000-0002-4896-5982
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, 10032, USA.
Alex TeuléGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute),Catalan Institute of Oncology, CIBERONC, Barcelona, 08908, Spain.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odence C, 5000, Denmark.
Kathrin ThöneCancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Darcy L ThullDepartment of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, H4A 3J1, Canada.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, 43210, USA.ORCID http://orcid.org/0000-0002-0271-1792
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Thérèse TruongCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, 94805, Villejuif, France.ORCID http://orcid.org/0000-0002-2943-6786
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, 02215, USA.
Celine M VachonDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, 55905, USA.
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
Ans M W van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 CN, The Netherlands.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Arcadia, 0007, South Africa.
Ana VegaFundación Pública galega Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Alessandra VielDivision of Functional onco-genomics and genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, 33081, Italy.ORCID http://orcid.org/0000-0003-2804-0840
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Barbara WappenschmidtCenter for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.
Jeffrey N WeitzelClinical Cancer Genomics, City of Hope, Duarte, CA, 91010, USA.
Camilla WendtDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, 118 83, Sweden.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, 90570, Finland.
Xiaohong R YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20850, USA.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece.
Argyrios ZiogasDepartment of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA, 92617.ORCID http://orcid.org/0000-0003-4529-3727
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37232, USA.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0003-2444-3247
Roger L MilneCancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, VIC, 3004, Australia.
Jonathan BeesleyDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.ORCID http://orcid.org/0000-0001-5764-7268
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
University of Cambridge · GBThe University of Melbourne · AUGerman Cancer Research Center · DEUniversity of Cologne · DEInstitute of Cancer Research · GBQIMR Berghofer Medical Research Institute · AUThe Netherlands Cancer Institute · NLVanderbilt University · USKarolinska Institutet · SENational Institutes of Health · USUniversity of Helsinki · FIAmerican Cancer Society · USInserm · FRMedizinische Hochschule Hannover · DEThe University of Sydney · AUUniversity of California, Los Angeles · USCopenhagen University Hospital · DKLund University · SEMemorial Sloan Kettering Cancer Center · USErasmus MC · NL

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Genetic Susceptibility And The Environment In Cancer RiskZIAES049033 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI TAYLOR, JACK A · 2009 to 2022
$7.7M
Network Lead Academic Participating Site Grant from the Roswell Park Cancer InstituteUG1CA233191 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI LELE, SHASHIKANT, LEVINE, ELLIS G · 2019 to 2025
$3.1M
Cancer Research UK 11174Cancer Research UK 16565Cancer Research UK 19187Cancer Research UK 20861Cancer Research UK 23382Medical Research Council MC_PC_14105NCATS NIH HHS UL1 TR001863NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016672NCI NIH HHS U10 CA180868NCI NIH HHS UG1 CA233191
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.

Indexed as

Genetic Predisposition to DiseaseBreast NeoplasmsFemaleGene Expression ProfilingGenome-Wide Association StudyHumansQuantitative Trait Loci

Identifiers

PMID30988301
PMCPMC6465407
OpenAlexW2918982382

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