Evidence map›Paper›PMID 25529635›Full record

ArticleAmerican journal of human genetics2015

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

Dylan M Glubb, Mel J Maranian, Kyriaki Michailidou, Karen A Pooley, Kerstin B Meyer, Siddhartha Kar, Saskia Carlebur, Martin O'Reilly, Joshua A Betts, Kristine M Hillman and 208 more

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

Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 3 pooled it
4.0field-weighted citation impact, top 5% 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

55 citing papers in PubMed, 3 syntheses or guidelines pooled it, 88 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
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  16. A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.American journal of physiology. Lung cellular and molecular physiology · 2021
    Article
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  20. Observational
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

218 authors at 20 institutions in 26 countries.

Dylan M GlubbCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Mel J MaranianCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Karen A PooleyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Kerstin B MeyerCancer Research UK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Siddhartha KarCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Saskia CarleburCancer Research UK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Martin O'ReillyCancer Research UK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Joshua A BettsCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4072, Australia.
Kristine M HillmanCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Susanne KaufmannCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Jonathan BeesleyCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Sander CanisiusNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia.
Melissa C SoutheyDepartment of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.
Helen TsimiklisDepartment of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.
Carmel ApicellaDepartment of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
Frans B HogervorstNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
C Ellen van der SchootSanquin Research, 1066 CX Amsterdam, the Netherlands.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK; Institute of Population Health, University of Manchester, Manchester M13 9PL, UK.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK.
Sarah Stewart-BrownDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK.
Pornthep SiriwanarangsanMinistry of Public Health, Nonthaburi 11000, Thailand.
Peter A FaschingUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany; Division of Hematology and Oncology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Matthias RuebnerUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany.
Arif B EkiciInstitute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany.
Matthias W BeckmannUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Isabel dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Olivia FletcherBreakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Nichola JohnsonBreakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Elinor J SawyerResearch Oncology, Division of Cancer Studies, King's College London, Guy's Hospital, London SE1 9RT, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford OX3 7BN, UK.
Michael J KerinClinical Science Institute, University Hospital Galway, Galway, Ireland.
Nicola MillerClinical Science Institute, University Hospital Galway, Galway, Ireland.
Barbara BurwinkelDepartment of Obstetrics and Gynecology, University of Heidelberg, 69115 Heidelberg, Germany.
Frederik MarmeDepartment of Obstetrics and Gynecology, University of Heidelberg, 69115 Heidelberg, Germany; National Center for Tumor Diseases, University of Heidelberg, 69120 Heidelberg, Germany.
Rongxi YangDepartment of Obstetrics and Gynecology, University of Heidelberg, 69115 Heidelberg, Germany; Molecular Genetics of Breast Cancer, German Cancer Research Center, 69120 Heidelberg, Germany.
Harald SurowyDepartment of Obstetrics and Gynecology, University of Heidelberg, 69115 Heidelberg, Germany; Molecular Genetics of Breast Cancer, German Cancer Research Center, 69120 Heidelberg, Germany.
Pascal GuénelInstitut National de la Santé et de la Recherche Médicale U1018, Environmental Epidemiology of Cancers, Centre de Recherche en Epidémiologie et Santé des Populations, 94807 Villejuif, France; UMRS 1018, University Paris-Sud, 94807 Villejuif, France.
Thérèse TruongInstitut National de la Santé et de la Recherche Médicale U1018, Environmental Epidemiology of Cancers, Centre de Recherche en Epidémiologie et Santé des Populations, 94807 Villejuif, France; UMRS 1018, University Paris-Sud, 94807 Villejuif, France.
Florence MenegauxInstitut National de la Santé et de la Recherche Médicale U1018, Environmental Epidemiology of Cancers, Centre de Recherche en Epidémiologie et Santé des Populations, 94807 Villejuif, France; UMRS 1018, University Paris-Sud, 94807 Villejuif, France.
Marie SanchezInstitut National de la Santé et de la Recherche Médicale U1018, Environmental Epidemiology of Cancers, Centre de Recherche en Epidémiologie et Santé des Populations, 94807 Villejuif, France; UMRS 1018, University Paris-Sud, 94807 Villejuif, France.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark.
Børge G NordestgaardCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark.
Sune F NielsenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark.
Anna González-NeiraCentro Nacional de Genotipado Human Genotyping Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain.
Javier BenitezCentro de Investigación en Red de Enfermedades Raras, 46010 Valencia, Spain; Human Genetics Group, Spanish National Cancer Centre and Biomedical Network on Rare Diseases, 28029 Madrid, Spain.
M Pilar ZamoraServicio de Oncología Médica, Hospital Universitario La Paz, 28029 Madrid, Spain.
Jose Ignacio Arias PerezServicio de Cirugía General y Especialidades, Hospital Monte Naranco, 33012 Oviedo, Spain.
Hoda Anton-CulverDepartment of Epidemiology, University of California, Irvine, Irvine, CA 92697, USA.
Susan L NeuhausenBeckman Research Institute of City of Hope, Duarte, CA 91010, USA.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, 69120 Heidelberg, Germany; German Cancer Consortium, 69120 Heidelberg, Germany.
Aida Karina DieffenbachDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, 69120 Heidelberg, Germany; German Cancer Consortium, 69120 Heidelberg, Germany.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, 69120 Heidelberg, Germany.
Christa StegmaierSaarland Cancer Registry, 66024 Saarbrücken, Germany.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, 81675 Munich, Germany.
Rita K SchmutzlerDivision of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50931 Cologne, Germany; Centre 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, 50937 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50923 Cologne, Germany; Center for Integrated Oncology, Medical Faculty, University Hospital of Cologne, 50937 Cologne, Germany.
Hiltrud BrauchUniversity of Tübingen, 72074 Tübingen, Germany; Dr. Margarete Fischer-Bosch Institute for Clinical Pharmacology, 70376 Stuttgart, Germany.
Yon-Dschun KoDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, 53113 Bonn, Germany.
Thomas BrüningInstitute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, 44789 Bochum, Germany.
GENICA Network
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Hospital District of Helsinki and Uusimaa, 00029 Helsinki, Finland.
Taru A MuranenDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Hospital District of Helsinki and Uusimaa, 00029 Helsinki, Finland.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Central Hospital, 00029 Helsinki, Finland.
Carl BlomqvistDepartment of Oncology, University of Helsinki and Helsinki University Central Hospital, 00029 Helsinki, Finland.
Keitaro MatsuoDepartment of Preventive Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan.
Hiroji IwataDepartment of Breast Oncology, Aichi Cancer Center Hospital, Nagoya 464-8681, Japan.
Hideo TanakaDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan.
Thilo DörkGynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, 30625 Hannover, Germany.
Sonja HelbigGynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.
Sara MargolinDepartment of Oncology-Pathology, Karolinska Institutet, 171 77 Stockholm, Sweden.
Arto MannermaaCancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70211 Kuopio, Finland; School of Medicine, Institute of Clinical Medicine, Pathology, and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland.
Vesa KatajaCancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70211 Kuopio, Finland; School of Medicine, Institute of Clinical Medicine, Pathology, and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland; Cancer Center, Kuopio University Hospital, 70211 Kuopio, Finland.
Veli-Matti KosmaCancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70211 Kuopio, Finland; School of Medicine, Institute of Clinical Medicine, Pathology, and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland.
Jaana M HartikainenCancer Center of Eastern Finland, University of Eastern Finland, 70211 Kuopio, Finland; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, 70211 Kuopio, Finland; School of Medicine, Institute of Clinical Medicine, Pathology, and Forensic Medicine, University of Eastern Finland, 70211 Kuopio, Finland.
kConFab Investigators
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
Chiu-chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
David Van Den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
Daniel O StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
Diether LambrechtsLaboratory for Translational Genetics, Department of Oncology, University of Leuven, 3000 Leuven, Belgium; Vesalius Research Center, VIB, 3000 Leuven, Belgium.
Hui ZhaoLaboratory for Translational Genetics, Department of Oncology, University of Leuven, 3000 Leuven, Belgium; Vesalius Research Center, VIB, 3000 Leuven, Belgium.
Caroline WeltensUniversity Hospital Gashuisberg, 3000 Leuven, Belgium.
Erik van LimbergenUniversity Hospital Gashuisberg, 3000 Leuven, Belgium.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center, 69120 Heidelberg, Germany.
Dieter Flesch-JanysDepartment of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, 20246 Hamburg, Germany.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center, 69120 Heidelberg, Germany.
Petra SeiboldDivision of Cancer Epidemiology, German Cancer Research Center, 69120 Heidelberg, Germany.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Istituto Nazionale Tumori, Fondazione Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Paolo PeterlongoIstituto Fondazione Italiana per la Ricerca sul Cancro di Oncologia Molecolare, 20139 Milan, Italy.
Monica BarileDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, 20141 Milan, Italy.
Fabio CapraIstituto Fondazione Italiana per la Ricerca sul Cancro di Oncologia Molecolare, 20139 Milan, Italy; Cogentech Cancer Genetic Test Laboratory, 20139 Milan, Italy.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Janet E OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Emily HallbergDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Graham G GilesNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3053, Australia.
Roger L MilneNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3053, Australia.
Catriona McLeanAnatomical Pathology, The Alfred, Melbourne, VIC 3004, Australia.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
Fredrick SchumacherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90089, USA.
Loic Le MarchandUniversity of Hawaii Cancer Centre Honolulu, HI 96813, USA.
Jacques SimardCentre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC G1V 4G2, Canada.
Mark S GoldbergDivision of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, QC H3A 1A1, Canada; Department of Medicine, McGill University, Montreal, QC H3A 1A1, Canada.
France LabrècheDépartement de Médecine Sociale et Préventive, Département de Santé Environnementale et Santé au Travail, Université de Montréal, Montreal, QC H3A 3C2, Canada.
Martine DumontCentre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC G1V 4G2, Canada.
Soo Hwang TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, 47500 Subang Jaya, Malaysia; Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, 50603 Kuala Lumpur, Malaysia.
Cheng Har YipBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, 50603 Kuala Lumpur, Malaysia.
Mee-Hoong SeeBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, 50603 Kuala Lumpur, Malaysia.
Belinda CornesSingapore Eye Research Institute, National University of Singapore, Singapore 168751, Singapore.
Ching-Yu ChengSingapore Eye Research Institute, National University of Singapore, Singapore 168751, Singapore.
M Kamran IkramSingapore Eye Research Institute, National University of Singapore, Singapore 168751, Singapore.
Vessela KristensenInstitute of Clinical Medicine, University of Oslo, 0450 Oslo, Norway; Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0310 Oslo, Norway; Department of Clinical Molecular Biology, University of Oslo, 0450 Oslo, Norway.
Norwegian Breast Cancer Study
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Sandra L HalversonDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Martha ShrubsoleDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu, Oulu University Hospital, 90210 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, 90210 Oulu, Finland.
Arja Jukkola-VuorinenDepartment of Oncology, Oulu University Hospital, University of Oulu, 90014 Oulu, Finland.
Saila KauppilaDepartment of Pathology, Oulu University Hospital, University of Oulu, 90014 Oulu, Finland.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X5, Canada.
Julia A KnightDivision of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada; Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.
Gord GlendonOntario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.
Sandrine TchatchouOntario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.
Peter DevileeDepartments of Human Genetics and Pathology, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
Robert A E M TollenaarDepartments of Human Genetics and Pathology, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
Caroline SeynaeveFamily Cancer Clinic, Netherlands Cancer Institute, 1066 CX Amsterdam, the Netherlands.
Christi J Van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
Montserrat García-ClosasBreakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5NG, UK.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, USA.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, 02-781 Warsaw, Poland.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden.
Daniel KlevebringDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden.
Maartje J HooningDepartment of Medical Oncology, Erasmus University Medical Center Cancer Institute, 3075 EA Rotterdam, the Netherlands.
Antoinette HollestelleDepartment of Medical Oncology, Erasmus University Medical Center Cancer Institute, 3075 EA Rotterdam, the Netherlands.
John W M MartensDepartment of Medical Oncology, Erasmus University Medical Center Cancer Institute, 3075 EA Rotterdam, the Netherlands.
J Margriet ColléeDepartment of Clinical Genetics, Erasmus University Medical Center, 3008 AE Rotterdam, the Netherlands.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77 Stockholm, Sweden.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Wei LuShanghai Center for Disease Control and Prevention, Changning, Shanghai 200336, China.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai 200032, China.
Hui CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Angela CoxSheffield Cancer Research Centre, Department of Oncology, University of Sheffield, Sheffield S10 2RX, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield S10 2RX, UK.
Malcolm W R ReedSheffield Cancer Research Centre, Department of Oncology, University of Sheffield, Sheffield S10 2RX, UK.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA; International Epidemiology Institute, Rockville, MD 20850, USA.
Lisa B SignorelloDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA; International Epidemiology Institute, Rockville, MD 20850, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Maya GhoussainiCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Daehee KangDepartment of Preventive Medicine, Seoul National University College of Medicine and Cancer Research Institute, Seoul National University, Seoul 110-799, Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 151-742, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul 110-799, Korea.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul 151-742, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul 110-799, Korea.
Sue K ParkDepartment of Preventive Medicine, Seoul National University College of Medicine and Cancer Research Institute, Seoul National University, Seoul 110-799, Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 151-742, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul 110-799, Korea.
Dong-Young NohDepartment of Surgery, Seoul National University, Bundang Hospital, Seongnam 110-744, Korea.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore 119228, Singapore.
Hui MiaoSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore.
Wei Yen LimSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore.
Anthony TangDivision of General Surgery, National University Health System, Singapore 119228, Singapore.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center, 69120 Heidelberg, Germany.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center, 69120 Heidelberg, Germany; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland.
Katarzyna JaworskaDepartment of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland.
Katarzyna DurdaDepartment of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland.
Suleeporn SangrajrangNational Cancer Institute, Bangkok 10400, Thailand.
Valerie GaborieauInternational Agency for Research on Cancer, 69372 Lyon, France.
Paul BrennanInternational Agency for Research on Cancer, 69372 Lyon, France.
James McKayInternational Agency for Research on Cancer, 69372 Lyon, France.
Curtis OlswoldDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Amanda E TolandDepartment of Molecular Virology, Immunology, and Medical Genetics, Ohio State University, Columbus, OH 43210, USA.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products, National Centre for Scientific Research "Demokritos," Aghia Paraskevi Attikis, Athens 15310, Greece.
Chen-Yang ShenInstitute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan; School of Public Health, China Medical University, Taichung 40402, Taiwan; Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan.
Pei-Ei WuInstitute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan; Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan.
Jyh-Cherng YuDepartment of Surgery, Tri-Service General Hospital, Taipei 114, Taiwan.
Ming-Feng HouCancer Center and Department of Surgery, Kaohsiung Medical University, Chung-Ho Memorial Hospital, Kaohsiung 807, Taiwan.
Anthony SwerdlowDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5NG, UK; Division of Breast Cancer Research, Institute of Cancer Research, Sutton SM2 5NG, UK.
Alan AshworthBreakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Nick OrrBreakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Michael JonesDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5NG, UK.
Guillermo PitaCentro Nacional de Genotipado Human Genotyping Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain.
M Rosario AlonsoCentro Nacional de Genotipado Human Genotyping Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain.
Nuria ÁlvarezCentro Nacional de Genotipado Human Genotyping Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain.
Daniel HerreroCentro Nacional de Genotipado Human Genotyping Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre, 28029 Madrid, Spain.
Daniel C TessierMcGill University and Génome Québec Innovation Centre, Montreal, QC H3A 0G1, Canada.
Daniel VincentMcGill University and Génome Québec Innovation Centre, Montreal, QC H3A 0G1, Canada.
Francois BacotMcGill University and Génome Québec Innovation Centre, Montreal, QC H3A 0G1, Canada.
Craig LuccariniCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Shahana AhmedCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Catherine S HealeyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Melissa A BrownSchool of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4072, Australia.
Bruce A J PonderCancer Research UK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Georgia Chenevix-TrenchCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Deborah J ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Stacey L EdwardsCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4072, Australia.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK. Electronic address: amd24@medschl.cam.ac.uk.
Juliet D FrenchCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4072, Australia. Electronic address: juliet.french@qimrberghofer.edu.au.
University of Cambridge · GBGerman Cancer Research Center · DEVanderbilt University · USKarolinska Institutet · SEInstitute of Cancer Research · GBUniversity of Southern California · USNational University of Singapore · SGMayo Clinic in Florida · USQIMR Berghofer Medical Research Institute · AUSpanish National Cancer Research Centre · ESThe Netherlands Cancer Institute · NLErasmus MC · NLMount Sinai Hospital · CAOulu University Hospital · FIPomeranian Medical University · PLThe University of Melbourne · AUThe University of Queensland · AUUniversité Paris-Sud · FRUniversity of Eastern Finland · FIAichi Cancer Center · JP

Funding

Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8M
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3M
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 PETER C LUCAS · 2005 to 2026
$49.9M
CALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7M
GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2M
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
Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
Shanghai Breast Cancer StudyR01CA064277 · NCI · VANDERBILT UNIVERSITY · PI SHU, XIAO-OU · 1996 to 2012
$4.8M
Cancer Research UK 10124Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A12014Cancer Research UK C490/A10124Cancer Research UK C8197/A16565CIHR CRN-87521Intramural NIH HHSMedical Research Council MC_PC_14105NCI NIH HHS CA098758NCI NIH HHS CA116167NCI NIH HHS CA116201NCI NIH HHS CA128978NCI NIH HHS CA132839NCI NIH HHS CA176785NCI NIH HHS CA54281NCI NIH HHS CA63464NCI NIH HHS N01CN25403NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA68485NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA148667NCI NIH HHS R01CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R01CA64277NCI NIH HHS R01 CA77398NCI NIH HHS R37CA70867NCI NIH HHS U01 CA116167NCI NIH HHS U19 CA148065NCI NIH HHS UM1 CA164920World Health Organization 001
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER(+): odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10(-44)) and estrogen-receptor-negative (ER(-): OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10(-4)) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10(-5)]) and five variants composing iCHAV3 (lead rs11949391; ER(+): OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10(-4)). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.

Indexed as

Chromosome MappingQuantitative Trait LociAllelesBreast NeoplasmsCase-Control StudiesCell Line, TumorChromosomes, Human, Pair 5FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotyping TechniquesHumansMAP Kinase Kinase Kinase 1MCF-7 CellsPolymorphism, Single NucleotidePromoter Regions, GeneticMAP3K1 protein, humanMAP Kinase Kinase Kinase 1

Identifiers

PMID25529635
PMCPMC4289692
OpenAlexW2170022976

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