Evidence map›Paper›PMID 25751625›Full record

SynthesisNature genetics2015

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Kyriaki Michailidou, Jonathan Beesley, Sara Lindstrom, Sander Canisius, Joe Dennis, Michael J Lush, Mel J Maranian, Manjeet K Bolla, Qin Wang, Mitul Shah and 238 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 381 papers, 17 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
381citing papers in PubMed, 17 pooled it
64.0field-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

381 citing papers in PubMed, 17 syntheses or guidelines pooled it, 628 citations in OpenAlex.

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  8. Genetic alterations inFrontiers in oncology · 2023
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  11. Association ofJCO global oncology · 2022
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  17. TERT rs10069690 polymorphism and cancers risk: A meta-analysis.Molecular genetics & genomic medicine · 2019
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  18. Trial
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321 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

248 authors at 20 institutions in 25 countries.

Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jonathan BeesleyDepartment of Genetics, QIMR (Queensland Institute for Medical Research) Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Sara LindstromProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts, USA.
Sander CanisiusDivision of Molecular Carcinogenesis, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Michael J LushCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Mel J MaranianCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Manjeet K BollaCentre 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.
Mitul ShahCentre 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.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Judith S BrandDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Stig E Bojesen1] Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [2] Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [3] Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Børge G Nordestgaard1] Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [2] Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [3] Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Sune F Nielsen1] Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [2] Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Nazneen RahmanDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Clare TurnbullDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
BOCS
Olivia FletcherBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Lorna GibsonDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Isabel dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Dieter Flesch-Janys1] Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany. [2] Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ursula EilberDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Taru A MuranenDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Carl BlomqvistDepartment of Oncology, 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.
Kirsimari AaltonenDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Habibul Ahsan1] Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA. [2] Department of Health Studies, University of Chicago, Chicago, Illinois, USA. [3] Department of Medicine, University of Chicago, Chicago, Illinois, USA. [4] Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. [5] Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA.
Muhammad G Kibriya1] Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA. [2] Department of Health Studies, University of Chicago, Chicago, Illinois, USA.
Alice S Whittemore1] Department of Health Research and Policy-Epidemiology, Stanford University School of Medicine, Stanford, California, USA. [2] Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA.
Esther M John1] Department of Health Research and Policy-Epidemiology, Stanford University School of Medicine, Stanford, California, USA. [2] Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA. [3] Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA.
Kathleen E MaloneDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Marilie D GammonDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Regina M SantellaDepartment of Environmental Health Sciences, Columbia University Mailman School of Public Health, New York, New York, USA.
Giske UrsinCancer Registry of Norway, Oslo, Norway.
Enes MakalicCentre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Melbourne, Victoria, Australia.
Daniel F SchmidtCentre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Melbourne, Victoria, Australia.
Graham CaseyDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
David J HunterProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts, USA.
Susan M GapsturEpidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
Mia M GaudetEpidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
W Ryan DiverEpidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Fredrick SchumacherDepartment 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.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii, USA.
Christine D BergDepartment of Radiation Oncology and Molecular Radiation Sciences, Johns Hopkins Medicine, Baltimore, Maryland, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Robert N HooverDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Diether Lambrechts1] Vesalius Research Center, VIB, Leuven, Belgium. [2] Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
Patrick NevenMultidisciplinary Breast Center, University Hospitals Leuven, Leuven, Belgium.
Hans WildiersMultidisciplinary Breast Center, University Hospitals Leuven, Leuven, Belgium.
Erik van LimbergenMultidisciplinary Breast Center, University Hospitals Leuven, Leuven, Belgium.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Senno VerhoefNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Sten CornelissenNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Janet E OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Emily HallbergDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Quinten WaisfiszDepartment of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam, the Netherlands.
Hanne Meijers-HeijboerDepartment of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam, the Netherlands.
Muriel A AdankDepartment of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam, the Netherlands.
Rob B van der LuijtDivision of Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Jingmei LiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jianjun LiuHuman Genetics Division, Genome Institute of Singapore, Singapore.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Daehee Kang1] Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea. [2] Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. [3] Cancer Research Institute, Seoul National University, Seoul, Korea.
Ji-Yeob Choi1] Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. [2] Cancer Research Institute, Seoul National University, Seoul, Korea.
Sue K Park1] Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea. [2] Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. [3] Cancer Research Institute, Seoul National University, Seoul, Korea.
Keun-Young YooSeoul National University College of Medicine, Seoul, Korea.
Keitaro MatsuoDepartment of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
Hiroji IwataDepartment of Breast Oncology, Aichi Cancer Center Hospital, Nagoya, Japan.
Kazuo TajimaEpidemiology Center for Disease Control and Prevention, Mie University Hospital, Tsu, Japan.
Pascal Guénel1] INSERM), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France. [2] University Paris-Sud, UMRS 1018, Villejuif, France.
Thérèse Truong1] INSERM), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France. [2] University Paris-Sud, UMRS 1018, Villejuif, France.
Claire MulotUniversité Paris Sorbonne Cité, UMRS 775, INSERM, Paris, France.
Marie Sanchez1] INSERM), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France. [2] University Paris-Sud, UMRS 1018, Villejuif, France.
Barbara Burwinkel1] Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany. [2] Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Frederik Marme1] Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany. [2] National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
Harald Surowy1] Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany. [2] Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Christof SohnDepartment of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Chiu-chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
David Van Den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Daniel O StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Anna González-NeiraHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Javier Benitez1] Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. [2] Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
M Pilar ZamoraServicio de Oncología Médica, Hospital Universitario La Paz, Madrid, Spain.
Jose Ignacio Arias PerezServicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
Xiao-Ou ShuDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Wei LuShanghai Center for Disease Control and Prevention, Changning, China.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
Hui CaiDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Angela Cox1] Sheffield Cancer Research Centre, University of Sheffield, Sheffield, UK. [2] Department of Oncology, University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Malcolm W R Reed1] Sheffield Cancer Research Centre, University of Sheffield, Sheffield, UK. [2] Department of Oncology, University of Sheffield, Sheffield, UK.
Irene L Andrulis1] Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada. [2] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Julia A Knight1] Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada. [2] Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Gord GlendonLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Anna Marie Mulligan1] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. [2] Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
Elinor J SawyerResearch Oncology, Division of Cancer Studies, King's College London, Guy's Hospital, London, UK.
Ian Tomlinson1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. [2] Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Michael J KerinDepartment of Surgery, School of Medicine, National University of Ireland, Galway, Ireland.
Nicola MillerDepartment of Surgery, School of Medicine, National University of Ireland, Galway, Ireland.
kConFab Investigators
AOCS Group
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Sara MargolinDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Soo Hwang Teo1] Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia. [2] Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.
Cheng Har YipBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.
Nur Aishah Mohd TaibBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.
Gie-Hooi TanBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Antoinette HollestelleDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
John W M MartensDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
J Margriet ColléeDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
William Blot1] Department of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. [2] International Epidemiology Institute, Rockville, Maryland, USA.
Lisa B SignorelloDepartment of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Qiuyin CaiDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Melissa C SoutheyDepartment of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
Helen TsimiklisDepartment of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
Carmel ApicellaCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Chen-Yang Shen1] Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [3] School of Public Health, China Medical University, Taichung, Taiwan.
Chia-Ni HsiungInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Pei-Ei Wu1] Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Ming-Feng Hou1] Cancer Center, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan. [2] Department of Surgery, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan.
Vessela N Kristensen1] Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway. [2] Institute of Clinical Medicine, University of Oslo, Oslo, Norway. [3] Department of Clinical Molecular Biology (EpiGen), University of Oslo, Oslo, Norway.
Silje NordDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
Grethe I Grenaker AlnaesDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
NBCS
Graham G Giles1] Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia.
Roger L Milne1] Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia.
Catriona McLeanDepartment of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.
Federico CanzianGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Dimitrios Trichopoulos1] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA. [2] Bureau of Epidemiologic Research, Academy of Athens, Athens, Greece. [3] Hellenic Health Foundation, Athens, Greece.
Petra Peeters1] Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center, Utrecht, the Netherlands. [2] Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Eiliv LundDepartment of Community Medicine, Faculty of Health Sciences, University of Tromsø, Arctic University of Norway, Tromsø, Norway.
Malin SundDepartment of Surgical and Perioperative Sciences, Umea University, Umea, Sweden.
Kay-Tee KhawSchool of Clinical Medicine, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.
Marc J GunterDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Domenico PalliMolecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute, Istituto per lo Studio e la Prevenzione Oncologica (ISPO), Florence, Italy.
Lotte Maxild MortensenSection for Epidemiology, Aarhus University, Aarhus, Denmark.
Laure Dossus1] INSERM Centre for Research in Epidemiology and Population Health (CESP), U1018, Nutrition, Hormones and Women's Health Team, Villejuif, France. [2] Université Paris-Sud, Villejuif, France.
Jose-Maria HuertaDepartment of Epidemiology, Consejería de Sanidad y Política Social, CIBER de Epidemiología y Salud Pública, Murcia, Spain.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Rita K Schmutzler1] Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany. [2] Center for Integrated Oncology (CIO), University Hospital Cologne, Cologne, Germany. [3] Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
Christian SutterInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Rongxi Yang1] Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany. [2] Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Kenneth Muir1] Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK. [2] Institute of Population Health, University of Manchester, Manchester, UK.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Sarah Stewart-BrownDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Pornthep SiriwanarangsanMinistry of Public Health, Nonthaburi, Thailand.
Mikael Hartman1] Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore. [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
Hui MiaoSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
Kee Seng ChiaSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
Ching Wan ChanDivision of General Surgery, National University Health System, Singapore.
Peter A Fasching1] Department of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center of the Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany. [2] Department of Medicine, Division of Hematology and Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Alexander HeinDepartment of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center of the Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center of the Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany.
Lothar HaeberleDepartment of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center of the Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany.
Hermann Brenner1] Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] German Cancer Consortium (DKTK), Heidelberg, Germany.
Aida Karina Dieffenbach1] Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] German Cancer Consortium (DKTK), Heidelberg, Germany.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Christa StegmaierSaarland Cancer Registry, Saarbrücken, Germany.
Alan AshworthBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Nick OrrBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Minouk J SchoemakerDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Anthony J Swerdlow1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Division of Breast Cancer Research, Institute of Cancer Research, London, UK.
Louise BrintonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Montserrat Garcia-Closas1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Wei ZhengDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Sandra L HalversonDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Martha ShrubsoleDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Jirong LongDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Mark S Goldberg1] Department of Medicine, McGill University, Montreal, Quebec, Canada. [2] Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada.
France Labrèche1] Département de Santé Environnementale et Santé au Travail, Ecole de Santé Publique, Université de Montréal, Montreal, Quebec, Canada. [2] Département de Médecine Sociale et Préventive, Ecole de Santé Publique, Université de Montréal, Montreal, Quebec, Canada.
Martine Dumont1] Centre Hospitalier Universitaire de Québec Research Center, Quebec City, Quebec, Canada. [2] Department of Molecular Medicine, Laval University, Quebec City, Quebec, Canada.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital, Oulu, Finland.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital, Oulu, Finland.
Arja Jukkola-VuorinenDepartment of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.
Mervi GripDepartment of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
Hiltrud Brauch1] German Cancer Consortium (DKTK), Heidelberg, Germany. [2] Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany. [3] University of Tübingen, Tübingen, Germany. [4] German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thomas BrüningInstitute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.
GENICA Network
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy.
Paolo PeterlongoFondazione Istituto FIRC (Italian Foundation for Cancer Research) di Oncologia Molecolare (IFOM), Milan, Italy.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy.
Loris Bernard1] Department of Experimental Oncology, Istituto Europeo di Oncologia, Milan, Italy. [2] Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Arto Mannermaa1] School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland. [2] Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland. [3] Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
Vesa Kataja1] Cancer Center, Kuopio University Hospital, Kuopio, Finland. [2] Central Finland Hospital District, Jyväskylä Central Hospital, Jyväskylä, Finland.
Veli-Matti Kosma1] School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland. [2] Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland. [3] Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
Jaana M Hartikainen1] School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland. [2] Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland. [3] Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
Peter Devilee1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Robert A E M TollenaarDepartment of Surgical Oncology, Leiden University Medical Center, Leiden, the Netherlands.
Caroline SeynaeveDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Christi J Van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Katarzyna JaworskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Tomasz HuzarskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Suleeporn SangrajrangNational Cancer Institute of Thailand, Bangkok, Thailand.
Valerie GaborieauInternational Agency for Research on Cancer, Lyon, France.
Paul BrennanInternational Agency for Research on Cancer, Lyon, France.
James McKayInternational Agency for Research on Cancer, Lyon, France.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Amanda E TolandDepartment of Molecular Virology, Immunology and Medical Genetics, Ohio State University, Columbus, Ohio, USA.
Christine B AmbrosoneRoswell Park Cancer Institute, Buffalo, New York, USA.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens, Greece.
Maria KabischMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Diana Torres1] Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
Hoda Anton-CulverDepartment of Epidemiology, University of California-Irvine, Irvine, California, USA.
Craig LuccariniCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Shahana AhmedCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Catherine S HealeyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Daniel C TessierMcGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Daniel VincentMcGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Francois BacotMcGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Guillermo PitaHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
M Rosario AlonsoHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Nuria ÁlvarezHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Daniel HerreroHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Jacques Simard1] Centre Hospitalier Universitaire de Québec Research Center, Quebec City, Quebec, Canada. [2] Department of Molecular Medicine, Laval University, Quebec City, Quebec, Canada.
Paul P D P Pharoah1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts, USA.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR (Queensland Institute for Medical Research) Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Douglas F Easton1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
University of Cambridge · GBGerman Cancer Research Center · DEInstitute of Cancer Research · GBUniversity of Southern California · USThe Netherlands Cancer Institute · NLVanderbilt University · USUniversity Malaya Medical Centre · MYUniversity of Helsinki · FIHarvard University · USOslo University Hospital · NOSeoul National University · KRThe University of Melbourne · AUUniversity of Eastern Finland · FIHerlev Hospital · DKInserm · FRKarolinska Institutet · SEOulu University Hospital · FIAmerican Cancer Society · USCancer Council Victoria · AULeiden University Medical Center · NL

Funding

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
True Metal fac coreP30ES009089 · NIEHS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MATTHEW S PERZANOWSKI · 1998 to 2026
$44.7M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
Identifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4M
Consortium Study to Identify Breast Cancer Susceptibility LociR01CA148667 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LONG, JIRONG, ZHENG, WEI · 2011 to 2015
$3.3M
BRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7M
Cancer Research UK 10124Cancer Research UK 14136Cancer Research UK 15106Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A12014Cancer Research UK C8197/A16565CIHRMedical Research Council G0401527Medical Research Council G0700491Medical Research Council G1000143Medical Research Council MC_PC_14105NCI NIH HHS 1 U19 CA148065-01NCI NIH HHS P30 CA016056NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS U01 CA116167NCI NIH HHS U19 CA148065NCI NIH HHS UM1 CA164920NIEHS NIH HHS P30 ES009089World Health Organization 001
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

Indexed as

Breast NeoplasmsGenetic LociGenetic Predisposition to DiseaseCase-Control StudiesCohort StudiesFemaleGenome-Wide Association StudyHumansMicroarray AnalysisPolymorphism, Single Nucleotide

Identifiers

PMID25751625
PMCPMC4549775
OpenAlexW2002715948

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