Evidence map›Paper›PMID 24943594›Full record

ArticleHuman molecular genetics2014

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Roger L Milne, Barbara Burwinkel, Kyriaki Michailidou, Jose-Ignacio Arias-Perez, M Pilar Zamora, Primitiva Menéndez-Rodríguez, David Hardisson, Marta Mendiola, Anna González-Neira, Guillermo Pita and 171 more

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

Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 1 pooled it
7.5field-weighted citation impact, top 2% 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

40 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Trial
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Breast Cancer-Related Low Penetrance Genes.Advances in experimental medicine and biology · 2021
    Article
  12. Checking NEKs: Overcoming a Bottleneck in Human Diseases.Molecules (Basel, Switzerland) · 2020
    Review
  13. Article
  14. Article
  15. Shift work, DNA methylation and epigenetic age.International journal of epidemiology · 2019
    Article
  16. Review
  17. Review
  18. Article
  19. Article
  20. Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018
    Review
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

181 authors at 20 institutions in 25 countries.

Roger L MilneCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Human Cancer Genetics Programme, roger.milne@cancervic.org.au.
Barbara BurwinkelDepartment of Obstetrics and Gynecology, Molecular Epidemiology Group.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Jose-Ignacio Arias-PerezServicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
M Pilar ZamoraServicio de Oncología Médica, Hospital Universitario La Paz, Madrid, Spain.
Primitiva Menéndez-RodríguezServicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
David HardissonDepartment of Pathology, Hospital Universitario La Paz, IdiPAZ (Hospital La Paz Institute for Health Research) Universidad Autonoma de Madrid, Madrid, Spain.
Marta MendiolaLaboratory of Pathology and Oncology, Research Unit, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.
Anna González-NeiraHuman Genotyping-CEGEN Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Guillermo PitaHuman Genotyping-CEGEN Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
M Rosario AlonsoHuman Genotyping-CEGEN Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Anthony SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK, Division of Breast Cancer Research.
Alan AshworthBreakthrough Breast Cancer Research Centre, Division of Breast Cancer Research.
Nick OrrBreakthrough Breast Cancer Research Centre, Division of Breast Cancer Research.
Minouk SchoemakerDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.
Yon-Dschun KoDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany.
Hiltrud BrauchDr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany, University of Tübingen, Tübingen, Germany.
Ute HamannMolecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany.
GENICA Network
Irene L AndrulisLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada, Department of Molecular Genetics.
Julia A KnightLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada, Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Gord GlendonOntario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute, Toronto, ON, Canada.
Sandrine TchatchouLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada.
kConFab Investigators
Australian Ovarian Cancer Study Group
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 TajimaDepartment of Public Health & Occupational Medicine, Mie University Graduate School of Medicine, Tsu, Japan.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Singapore.
Judith S BrandDepartment of Medical Epidemiology and Biostatistics.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Consortium (DKTK), Heidelberg, Germany.
Aida Karina DieffenbachDivision of Clinical Epidemiology and Aging Research, German Cancer Consortium (DKTK), Heidelberg, Germany.
Volker ArndtDivision of Clinical Epidemiology and Aging Research.
Christa StegmaierSaarland Cancer Registry, Saarbrücken, Germany.
Diether LambrechtsVesalius Research Center (VRC), VIB, Leuven, Belgium.
Gilian PeutemanVesalius Research Center (VRC), VIB, Leuven, Belgium.
Marie-Rose ChristiaensMultidisciplinary Breast Center, University Hospital Gasthuisberg, Leuven, Belgium.
Ann SmeetsMultidisciplinary Breast Center, University Hospital Gasthuisberg, Leuven, Belgium.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Katarzyna Jaworska-BieniekDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Katazyna DurdaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Mikael HartmanSaw Swee Hock School of Public Health, Department of Surgery, Yong Loo Lin School of Medicine.
Miao HuiSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Wei Yen LimSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Ching Wan ChanDepartment of Surgery, National University Health System, Singapore, Singapore.
Federick MarmeDepartment of Obstetrics and Gynecology, National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
Rongxi YangDepartment of Obstetrics and Gynecology, National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
Peter BugertInstitute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Annika LindblomDepartment of Molecular Medicine and Surgery.
Sara MargolinDepartment of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden.
Montserrat García-ClosasDivision of Breast Cancer Research, Breakthrough Breast Cancer Research Centre, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA, Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Warsaw, Poland.
Jonine D FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Department of Clinical Biochemistry, Herlev Hospital, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Børge G NordestgaardCopenhagen General Population Study, Herlev Hospital, Department of Clinical Biochemistry, Herlev Hospital, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Maartje J HooningDepartment of Medical Oncology.
Mieke KriegeDepartment of Medical Oncology.
Ans M W van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Linetta B KoppertDepartment of Surgical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Olivia FletcherBreakthrough Breast Cancer Research Centre.
Nichola JohnsonBreakthrough Breast Cancer Research Centre.
Isabel dos-Santos-SilvaLondon School of Hygiene and Tropical Medicine, London, UK.
Julian PetoLondon School of Hygiene and Tropical Medicine, London, UK.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Sandra Deming-HalversonDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Martha J ShrubsoleDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Petra SeiboldDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Dieter Flesch-JanysInstitute for Medical Biometrics and Epidemiology, Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Northern Finland Laboratory Centre NordLab, Oulu, Finland.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Northern Finland Laboratory Centre NordLab, Oulu, Finland.
Arja Jukkola-VuorinenDepartment of Oncology.
Mervi GripDepartment of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
Angela CoxCRUK/YCR Sheffield Cancer Research Centre, Department of Oncology.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, South Yorkshire, UK.
Malcolm W R ReedCRUK/YCR Sheffield Cancer Research Centre, Department of Oncology.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Sten CornelissenNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Linde BraafNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Daehee KangDepartment of Preventive Medicine, Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea, Cancer Research Institute, Seoul National University, Seoul, Korea.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea, Cancer Research Institute, Seoul National University, Seoul, Korea.
Sue K ParkDepartment of Preventive Medicine, Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea, Cancer Research Institute, Seoul National University, Seoul, Korea.
Dong-Young NohDepartment of Surgery, Seoul National University College of Medicine, Seoul, Korea.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, QC, Canada.
Martine DumontGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, QC, Canada.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, QC, Canada, Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, QC, Canada.
France LabrècheDépartement de médecine sociale et préventive, Département de santé environnementale et santé au travail, Université de Montréal, Montreal, QC, Canada.
Peter A FaschingUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, CA, USA.
Alexander HeinUniversity Breast Center Franconia, Department of Gynecology and Obstetrics.
Arif B EkiciInstitute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Matthias W BeckmannUniversity Breast Center Franconia, Department of Gynecology and Obstetrics.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
Paolo PeterlongoIFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.
Jacopo AzzolliniUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Monica BarileDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
Elinor SawyerDivision of Cancer Studies, NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust in partnership with King's College London, London, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Michael KerinSchool of Medicine, Clinical Science Institute, National University of Ireland, Galway, Ireland.
Nicola MillerSchool of Medicine, Clinical Science Institute, National University of Ireland, Galway, Ireland.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Daniel F SchmidtCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Enes MakalicCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Melissa C SoutheyDepartment of Pathology, The University of Melbourne, Melbourne, Australia.
Soo Hwang TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia, Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Cheng Har YipBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Kavitta SivanandanCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Wan-Ting TaySingapore Eye Research Institute, National University of Singapore, Singapore, Singapore.
Chen-Yang ShenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, College of Public Health, China Medical University, Taichong, Taiwan.
Chia-Ni HsiungInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Jyh-Cherng YuTri-Service General Hospital, Taipei, Taiwan.
Ming-Feng HouCancer Center, Department of Surgery, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan.
Pascal GuénelInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France, University Paris-Sud, UMRS 1018, Villejuif, France.
Therese TruongInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France, University Paris-Sud, UMRS 1018, Villejuif, France.
Marie SanchezInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France, University Paris-Sud, UMRS 1018, Villejuif, France.
Claire MulotInserm (National Institute of Health and Medical Research), U775, Paris, France, Centre de Ressources Biologiques EPIGENETEC, Paris, France.
William BlotDepartment of Medicine, Vanderbilt University, Nashville, TN, USA.
Qiuyin CaiDepartment of Medicine, Vanderbilt University, Nashville, TN, USA.
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.
Carl BlomqvistDepartment of Oncology, Helsinki University Central Hospital, Helsinki, Finland.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Chiu-Chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
David Van Den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Daniel O StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Natalia BogdanovaDepartment of Obstetrics and Gynaecology, Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Thilo DörkDepartment of Obstetrics and Gynaecology.
Kenneth MuirInstitute of Population Health, University of Manchester, Manchester, UK, Division of Health Sciences, Warwick Medical School, Coventry, UK.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Coventry, UK.
Sarah Stewart-BrownDivision of Health Sciences, Warwick Medical School, Coventry, UK.
Pornthep SiriwanarangsanMinistry of Public Health, Thailand.
Arto MannermaaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, Biocenter Kuopio, Department of Clinical Pathology.
Vesa KatajaBiocenter Kuopio, School of Medicine, Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio, Finland, Cancer Center, Kuopio University Hospital, Kuopio, Finland.
Veli-Matti KosmaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, Biocenter Kuopio, Department of Clinical Pathology.
Jaana M HartikainenSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, Biocenter Kuopio, Department of Clinical Pathology.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Wei LuShanghai Center for Disease Control and Prevention, Shanghai, China.
Yu-Tang GaoShanghai Cancer Institute, Shanghai, China.
Ben ZhangDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Department of Health Sciences Research.
Amanda E TolandDepartment of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
TNBCC
Drakoulis YannoukakosMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.
Suleeporn SangrajrangNational Cancer Institute, Bangkok, Thailand.
James McKayGenetic Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Xianshu WangDepartment of Laboratory Medicine and Pathology.
Janet E OlsonDepartment of Health Sciences Research.
Celine VachonDepartment of Health Sciences Research.
Kristen PurringtonDepartment of Health Sciences Research.
Gianluca SeveriCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Laura BagliettoCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Fredrick SchumacherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Loic Le MarchandUniversity of Hawaii Cancer Center, Honolulu, HI, USA.
Peter DevileeDepartment of Human Genetics and.
Robert A E M TollenaarDepartment of Surgical Oncology, Leiden University Medical Center, Leiden, The Netherlands.
Caroline SeynaeveDepartment of Medical Oncology.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics.
Shahana AhmedCentre 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.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Per HallDepartment of Medical Epidemiology and Biostatistics.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Javier BenítezHuman Cancer Genetics Programme, Human Genotyping-CEGEN Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Georgia Chenevix-TrenchQIMR Berghofer Institute of Medical Research, Brisbane, Australia.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
University of Southern California · USGerman Cancer Research Center · DEUniversity of Cambridge · GBSeoul National University · KRBreast Cancer Research Foundation · USCancer Council Victoria · AUMount Sinai Hospital · CAUniversité Paris-Sud · FROllscoil na Gaillimhe – University of Galway · IEPomeranian Medical University · PLSpanish National Cancer Research Centre · ESYorkshire Cancer Research · GBAichi Cancer Center · JPHeidelberg University · DEInstitute of Cancer Research · GBNational University of Singapore · SGQIMR Berghofer Medical Research Institute · AUUniversity Malaya Medical Centre · MYUniversity of Copenhagen · DKUniversity of Hawaiʻi at Mānoa · US

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
Epidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4M
Cancer Research UK 10118Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A12014Cancer Research UK C490/A10124CIHR CRN-87521NCI NIH HHS 1U19 CA148065NCI NIH HHS 1U19 CA148112NCI NIH HHS 1U19 CA148537NCI NIH HHS CA098758NCI NIH HHS CA116201NCI NIH HHS CA122340NCI NIH HHS CA128978NCI NIH HHS CA132839NCI NIH HHS CA54281NCI NIH HHS CA63464NCI NIH HHS N01 CN025403NCI NIH HHS N01CN25403NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA068485NCI NIH HHS P30 CA68485NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA100374NCI NIH HHS R01CA100374NCI NIH HHS R01 CA122340NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA148667NCI NIH HHS R01CA148667NCI NIH HHS R01CA64277NCI NIH HHS R01 CA77398NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS R37CA70867NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA182910Wellcome Trust 090532Wellcome Trust 090532/Z/09/ZWorld Health Organization 001
6 · The paper itself

Abstract

Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04-1.10, P = 2.9 × 10(-6)], AKAP9-M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03-1.07, P = 1.7 × 10(-6)) and NEK10-L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07-1.12, P = 5.1 × 10(-17)). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for ATXN7-K264R, OR = 1.07 (95% CI = 1.05-1.10, P = 1.0 × 10(-8)); for AKAP9-M463I, OR = 1.05 (95% CI = 1.04-1.07, P = 2.0 × 10(-10)). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultA Kinase Anchor ProteinsAllelesAtaxin-7Breast NeoplasmsCase-Control StudiesCytoskeletal ProteinsFemaleGenome-Wide Association StudyHumansMiddle AgedNerve Tissue ProteinsNIMA-Related KinasesProtein Serine-Threonine KinasesAKAP9 protein, humanA Kinase Anchor ProteinsAtaxin-7ATXN7 protein, humanCytoskeletal ProteinsNek10 protein, humanNerve Tissue ProteinsNIMA-Related KinasesProtein Serine-Threonine Kinases

Identifiers

PMID24943594
PMCPMC4204770
OpenAlexW2118903635

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Registered trials

None linked

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.