Evidence map›Paper›PMID 26928228›Full record

SynthesisNature genetics2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Jonathan Beesley, Catherine S Healey, Siddhartha Kar, Karen A Pooley, Elena Lopez-Knowles and 242 more

Open access · bronzeAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 5 pooled it
19.2field-weighted citation impact, top 1% 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

104 citing papers in PubMed, 5 syntheses or guidelines pooled it, 169 citations in OpenAlex.

  1. Pooled it
  2. Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023
    Pooled it
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  5. Pooled it
  6. Article
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  12. Review
  13. Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
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  15. Review
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  19. Review
  20. Article

44 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

252 authors at 20 institutions in 36 countries.

Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Karoline B KuchenbaeckerCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Deborah ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Juliet D FrenchCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Jonathan BeesleyCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Catherine S HealeyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Siddhartha KarCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Karen A PooleyCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Elena Lopez-KnowlesBreast Cancer Research, Breakthrough Breast Cancer Research Centre, London, UK.
Ed DicksCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Nicholas A Sinnott-ArmstrongDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Richard C SallariComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Kristine M HillmanCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Susanne KaufmannCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Haran SivakumaranCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Mahdi Moradi MarjanehCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Jason S LeeCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Margaret HillsAcademic Biochemistry, Royal Marsden Hospital, London, UK.
Monika JaroszBreast Cancer Research, Breakthrough Breast Cancer Research Centre, London, UK.
Suzie DruryBreast Cancer Research, Breakthrough Breast Cancer Research Centre, London, UK.
Sander CanisiusNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
John L HopperCentre for Epidemiology and Biostatistics, School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Melissa C SoutheyDepartment of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany.
Peter A FaschingDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany.
Isabel Dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Elinor J SawyerResearch Oncology, Division of Cancer Studies, King's College London, Guy's Hospital, London, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Barbara BurwinkelDivision of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Frederik MarmeNational Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
Pascal GuénelEnvironmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
Thérèse TruongEnvironmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Anna González-NeiraHuman Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Jose I A PerezServicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
Hoda Anton-CulverDepartment of Epidemiology, University of California-Irvine, Irvine, California, USA.
Lee EunjungDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Alfons MeindlDepartment of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany.
Rita K SchmutzlerDivision of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, Cologne, Germany.
Hiltrud BrauchGerman Cancer Consortium, German Cancer Research Center, Heidelberg, Germany.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Carl BlomqvistDepartment of Oncology, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Aichi, Japan.
Keitaro MatsuoDivision of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan.
Natasha BogdanovaRadiation Oncology Research Unit, Hannover Medical School, Hannover, Germany.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Sara MargolinDepartment of Oncology-Pathology, Karolinska University Hospital, Stockholm, Sweden.
Veli-Matti KosmaCancer Center, Kuopio University Hospital, Kuopio, Finland.
Arto MannermaaCancer Center, Kuopio University Hospital, Kuopio, Finland.
Chiu-Chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Diether LambrechtsVesalius Research Center, Leuven, Belgium.
Hans WildiersMultidisciplinary Breast Center, Department of General Medical Oncology, University Hospitals Leuven, Leuven, Belgium.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Paolo PeterlongoIFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.
Paolo RadiceUnit of Molecular Basis of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Janet E OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Graham G GilesCentre for Epidemiology and Biostatistics, School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Roger L MilneCentre for Epidemiology and Biostatistics, School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, Quebec, Canada.
Soo H TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Cheng Har YipBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Silje NordDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
Anne-Lise Borresen-DaleDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
Vessela KristensenDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu University Hospital, Oulu, Finland.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu University Hospital, Oulu, Finland.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Julia A KnightProsserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Caroline SeynaeveDepartment of Medical Oncology, Erasmus University Medical Center, Rotterdam, the Netherlands.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Mark E ShermanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Antoinette HollestelleDepartment of Medical Oncology, Erasmus University Medical Center, Rotterdam, the Netherlands.
Ans M W van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Angela CoxSheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Maya GhoussainiCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Barbara J PerkinsCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Ji-Yeob ChoiDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
Daehee KangDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
Soo Chin LeeDepartment of Haematology-Oncology, National University Health System, Singapore.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, Singapore.
Maria KabischMolecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Paul BrennanInternational Agency for Research on Cancer, Lyon, France.
Suleeporn SangrajrangNational Cancer Institute, Bangkok, Thailand.
Christine B AmbrosoneRoswell Park Cancer Institute, Buffalo, New York, USA.
Amanda E TolandDepartment of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA.
Chen-Yang ShenSchool of Public Health, China Medical University, Taichung, Taiwan.
Pei-Ei WuTaiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Nick OrrDivision of Cancer Studies, Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK.
Anthony SwerdlowDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Sue HealeyCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Andrew LeeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Miroslav KapuscinskiCentre for Epidemiology and Biostatistics, University of Melbourne, Melbourne, Victoria, Australia.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Ramunas JanaviciusState Research Institute Centre for Innovative Medicine, Vilnius, Lithuania.
Laima TihomirovaLatvian Biomedical Research and Study Centre, Riga, Latvia.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Cecilia M DorflingDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Thomas V O HansenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Ana OsorioHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Javier BenitezHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Rachel RandoCity of Hope Clinical Cancer Genomics Community Research Network, Duarte, California, USA.
Jeffrey N WeitzelClinical Cancer Genetics, City of Hope, Duarte, California, USA.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Bernard PeisselUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Nazionale Tumori, Milan, Italy.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Nazionale Tumori, Milan, Italy.
Laura PapiUnit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
Laura OttiniDepartment of Molecular Medicine, University La Sapienza, Rome, Italy.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens, Greece.
Paraskevi ApostolouMolecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens, Greece.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Muhammad Usman RashidMolecular Genetics of Breast Cancer, German Cancer Research Center, Heidelberg, Germany.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
EMBRACE
Louise IzattClinical Genetics, Guy's and St. Thomas' National Health Service (NHS) Foundation Trust, London, UK.
Steve EllisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.
Norbert ArnoldDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian Albrechts University Kiel, Kiel, Germany.
Dieter NiederacherUniversity Düsseldorf, Dusseldorf, Germany.
Kerstin RhiemCentre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology, Center for Molecular Medicine Cologne, University Hospital of Cologne, Cologne, Germany.
Nadja Bogdanova-MarkovInstitute of Human Genetics, Münster, Germany.
Charlotte SagneINSERM U1052, CNRS UMR 5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Dominique Stoppa-LyonnetInstitut Curie, Department of Tumour Biology, Paris, France.
Francesca DamiolaINSERM U1052, CNRS UMR 5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
GEMO Study Collaborators
Olga M SinilnikovaINSERM U1052, CNRS UMR 5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Sylvie MazoyerINSERM U1052, CNRS UMR 5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.
Kathleen B M ClaesCenter for Medical Genetics, Ghent University, Ghent, Belgium.
Kim De LeeneerCenter for Medical Genetics, Ghent University, Ghent, Belgium.
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Trinidad CaldesMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Sofia KhanDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Arjen R MensenkampDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
HEBON
Maartje J HooningDepartment of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, the Netherlands.
Matti A RookusDepartment of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Orland DiezOncogenetics Laboratory, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital, Barcelona, Spain.
Joan BrunetGenetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Girona, Spain.
Miquel Angel PujanaBreast Cancer and Systems Biology Unit, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Tomasz HuzarskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Rosa B BarkardottirDepartment of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Rachel LaframboiseMedical Genetic Division, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Quebec, Canada.
Penny SoucyCentre Hospitalier Universitaire de Québec and Laval University, Quebec City, Quebec, Canada.
Marco MontagnaImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Padua, Italy.
Simona AgataImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Padua, Italy.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
kConFab Investigators
Sue Kyung ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
Noralane LindorDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Fergus J CouchDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Marc TischkowitzProgram in Cancer Genetics, McGill University, Montreal, Quebec, Canada.
Lenka ForetovaMasaryk Memorial Cancer Institute and Medical Faculty, Masaryk University, Brno, Czech Republic.
Joseph VijaiDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Kenneth OffitDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Christian F SingerDepartment of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Christine RappaportDepartment of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Catherine M PhelanDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Rockville, Maryland, USA.
Phuong L MaiClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Rockville, Maryland, USA.
Gad RennertDepartment of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Haifa, Israel.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Peter J HulickCenter for Medical Genetics, NorthShore University Health System, Evanston, Illinois, USA.
Kelly-Anne PhillipsDivision of Cancer Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
Marion PiedmonteNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York, USA.
Anna Marie MulliganLaboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
Gord GlendonLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Anders BojesenDepartment of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Maria A CaligoSection of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy.
Sook-Yee YoonCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Eitan FriedmanSusanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel.
Yael LaitmanSusanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel.
Ake BorgDepartment of Oncology, Lund University, Lund, Sweden.
Anna von WachenfeldtDepartment of Oncology-Pathology, Karolinska University Hospital, Stockholm, Sweden.
Hans EhrencronaDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Johanna RantalaDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, USA.
Patricia A GanzDivision of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center, University of California Los Angeles School of Medicine and School of Public Health, Los Angeles, California, USA.
Robert L NussbaumDepartment of Medicine and Genetics, University of California, San Francisco, San Francisco, California, USA.
Simon A GaytherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Katherine L NathansonAbramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Susan M DomchekAbramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Banu K ArunUniversity of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Gillian MitchellFamilial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gertraud MaskarinecUniversity of Hawaii Cancer Center, Honolulu, Hawaii, USA.
Christy WoolcottDepartment of Obstetrics, Gynaecology and Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Jennifer StoneCentre for Genetic Origins of Health and Disease, University of Western Australia, Perth, Western Australia, Australia.
Carmel ApicellaCentre for Epidemiology and Biostatistics, School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Rulla TamimiChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Robert LubenClinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kay-Tee KhawClinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Åslaug HellandDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
Vilde HaakensenDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
Mitch DowsettBreast Cancer Research, Breakthrough Breast Cancer Research Centre, London, UK.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Jacques SimardCentre Hospitalier Universitaire de Québec and Laval University, Quebec City, Quebec, Canada.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Montserrat García-ClosasDivision of Cancer Studies, Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Georgia Chenevix-TrenchCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Stacey L EdwardsCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
University of Cambridge · GBQIMR Berghofer Medical Research Institute · AUUniversity of Southern California · USGerman Cancer Research Center · DEOslo University Hospital · NOUniversité Claude Bernard Lyon 1 · FRErasmus MC · NLMount Sinai Hospital · CASeoul National University · KRThe University of Melbourne · AUUniversity of Helsinki · FIInstitute of Cancer Research · GBCedars-Sinai Medical Center · USKarolinska Institutet · SENational University of Singapore · SGRoswell Park Comprehensive Cancer Center · USSpanish National Cancer Research Centre · ESUniversité Paris-Sud · FRUniversity of Eastern Finland · FIVanderbilt University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
WORD PROCESSING CENTER--COREP30CA006927 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI Dietmar J Kappes · 1985 to 2026
$138.8M
Two-Spirit Films in Indigenous Cancer HealthP30CA016056 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI Dean G. Tang · 1985 to 2026
$116.6M
Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9M
CALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7M
Multiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Characterizing Genetic Susceptibility to Breast and Prostate Cancer; the BPC3U01CA098758 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2003 to 2010
$11.0M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 11174Cancer Research UK 14136Cancer Research UK 16561Cancer Research UK 16565Cancer Research UK C12292/A11174Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C8197/A16565CIHRMedical Research Council G0401527Medical Research Council MR/N003284/1NCI NIH HHS 1U19 CA148065NCI NIH HHS 1U19 CA148112NCI NIH HHS 1U19 CA148537NCI NIH HHS CA116167NCI NIH HHS CA116201NCI NIH HHS CA128978NCI NIH HHS CA176785NCI NIH HHS CA192393NCI NIH HHS P30 CA006927NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016056NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA122340NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R25 CA090956NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U10 CA180868NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UG1 CA189867NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA182910World Health Organization 001
6 · The paper itself

Abstract

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.

Indexed as

Base SequenceBreast NeoplasmsCarrier ProteinsCell Cycle ProteinsChromosomes, Human, Pair 6Estrogen Receptor alphaFemaleGene ExpressionGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseHumansPhenotypePolymorphism, Single NucleotideProtein BindingRisk FactorsCarrier ProteinsCCDC170 protein, humanCell Cycle ProteinsESR1 protein, humanEstrogen Receptor alphaRMND1 protein, human

Identifiers

PMID26928228
PMCPMC4938803
OpenAlexW2291123596

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.