Evidence map›Paper›PMID 25168388›Full record

ArticleHuman molecular genetics2015

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

Wei-Yu Lin, Nicola J Camp, Maya Ghoussaini, Jonathan Beesley, Kyriaki Michailidou, John L Hopper, Carmel Apicella, Melissa C Southey, Jennifer Stone, Marjanka K Schmidt and 215 more

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

Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 2 pooled it
2.4field-weighted citation impact, top 11% 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

32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Observational
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  5. Review
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  17. Review
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  19. 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
  20. 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

225 authors at 20 institutions in 29 countries.

Wei-Yu LinDepartment of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK Department of Neurosurgery, Chang Gung Memorial Hospital, Taoyuan County 333, Taiwan.
Nicola J CampDepartment of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84108-1266, USA.
Maya GhoussainiCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Jonathan BeesleyDepartment of Genetics.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Carmel ApicellaCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health.
Melissa C SoutheyDepartment of Pathology.
Jennifer StoneCentre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands.
Laura J Van't VeerNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands.
Emiel J Th RutgersNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, 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 9QQ, 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 David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California, Los Angeles, CA 90095, USA.
Lothar HaeberleUniversity Breast Center Franconia, Department of Gynecology and Obstetrics.
Arif B EkiciInstitute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen D-91054, Germany.
Matthias W BeckmannUniversity Breast Center Franconia, Department of Gynecology and Obstetrics.
Julian PetoNon-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Isabel Dos-Santos-SilvaNon-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Olivia FletcherBreakthrough Breast Cancer Research Centre.
Nichola JohnsonBreakthrough Breast Cancer Research Centre.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care.
Elinor J SawyerDivision of Cancer Studies, Kings College London, Guy's Hospital, London SE1 9RT, UK.
Timothy ChengWellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK.
Michael J KerinSchool of Medicine, National University of Ireland, Galway, Ireland.
Nicola MillerSchool of Medicine, National University of Ireland, Galway, Ireland.
Frederik MarméDepartment of Obstetrics and Gynecology National Center for Tumor Diseases, University of Heidelberg, Heidelberg 69117, Germany.
Harald M SurowyDepartment of Obstetrics and Gynecology Molecular Epidemiology Group.
Barbara BurwinkelDepartment of Obstetrics and Gynecology Molecular Epidemiology Group.
Pascal GuénelInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif 94807, France University Paris-Sud, UMRS 1018, Villejuif 94807, France.
Thérèse TruongInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif 94807, France University Paris-Sud, UMRS 1018, Villejuif 94807, France.
Florence MenegauxInserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif 94807, France University Paris-Sud, UMRS 1018, Villejuif 94807, France.
Claire MulotUniversité Paris Sorbonne Cité, UMR-S775 Inserm, Paris 75015, France.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, 2730 Herlev, Copenhagen, Denmark Department of Clinical Biochemistry Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark.
Børge G NordestgaardCopenhagen General Population Study, Herlev Hospital, 2730 Herlev, Copenhagen, Denmark Department of Clinical Biochemistry Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark.
Sune F NielsenCopenhagen General Population Study, Herlev Hospital, 2730 Herlev, Copenhagen, Denmark Department of Clinical Biochemistry.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen 2100, Denmark.
Javier BenitezHuman Genetics Group, Human Cancer Genetics Program Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia 28029, Spain.
M Pilar ZamoraServicio de Oncología Médica, Hospital Universitario La Paz, Madrid 28046, Spain.
Jose Ignacio Arias PerezServicio de Cirugía General y Especialidades.
Primitiva MenéndezServicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo 33012, Spain.
Anna González-NeiraHuman Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain.
Guillermo PitaHuman Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain.
M Rosario AlonsoHuman Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain.
Nuria AlvarezHuman Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain.
Daniel HerreroHuman Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, CA 92697, USA.
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 66024, Germany.
Alfons MeindlDivision of Gynaecology and Obstetrics.
Peter LichtnerInsitute of Human Genetics, Technische Universität München, Munich D-80333, Germany.
Rita K SchmutzlerCenter for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, 50932 Cologne, Germany.
Bertram Müller-MyhsokMax Planck Institute of Psychiatry, Munich 80804, Germany.
Hiltrud BrauchDr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart 70376, Germany University of Tübingen, Tübingen 72074, Germany German Cancer Consortium (DKTK).
Thomas BrüningInstitute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr-University Bochum (IPA), Bochum D-44789, Germany.
Yon-Dschun KoDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn 53113, Germany.
GENICA Network
Daniel C TessierCentre D'innovation Génome Québec et Université McGill, Montréal, QC, Canada H3A 0G1.
Daniel VincentCentre D'innovation Génome Québec et Université McGill, Montréal, QC, Canada H3A 0G1.
Francois BacotCentre D'innovation Génome Québec et Université McGill, Montréal, QC, Canada H3A 0G1.
Heli NevanlinnaDepartment of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland.
Kristiina AittomäkiDepartment of Clinical Genetics Helsinki University Central Hospital, Helsinki 00029, Finland.
Carl BlomqvistDepartment of Oncology, University of Helsinki Helsinki University Central Hospital, Helsinki 00029, Finland.
Sofia KhanDepartment of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland.
Keitaro MatsuoDepartment of Preventive Medicine, Kyushu University Faculty of Medical Sciences, 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.
Akiyo HorioDepartment of Breast Oncology, Aichi Cancer Center Hospital, Nagoya 464-8681, Japan.
Natalia V BogdanovaDepartment of Obstetrics and Gynaecology Department of Radiation Oncology, Hannover Medical School, Hannover 30625, Germany.
Natalia N AntonenkovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk 223040, Belarus.
Thilo DörkDepartment of Obstetrics and Gynaecology.
Annika LindblomDepartment of Molecular Medicine and Surgery.
Sara MargolinDepartment of Oncology-Pathology.
Arto MannermaaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland Imaging Center, Department of Clinical Pathology.
Vesa KatajaSchool of Medicine, Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio 70210, Finland Cancer Center, Kuopio University Hospital, Kuopio 70029, Finland.
Veli-Matti KosmaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland Imaging Center, Department of Clinical Pathology.
Jaana M HartikainenSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland Imaging Center, Department of Clinical Pathology.
kConFab Investigators
Australian Ovarian Cancer Study Group
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Chiu-Chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
David Van Den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Daniel O StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Patrick NevenUniversity Hospital Gashuisberg, Leuven 3000, Belgium.
Els WautersVesalius Research Center (VRC), VIB, Leuven 3000, Belgium Department of Oncology.
Hans WildiersDepartment of General Medical Oncology, University Hospitals Leuven, Leuven 3000, Belgium.
Diether LambrechtsVesalius Research Center (VRC), VIB, Leuven 3000, Belgium Laboratory for Translational Genetics, Department of Oncology.
Jenny Chang-ClaudeDivision of Cancer Epidemiology.
Anja RudolphDivision of Cancer Epidemiology.
Petra SeiboldDivision of Cancer Epidemiology.
Dieter Flesch-JanysDepartment of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg D-20246, Germany.
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 20139, Italy.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan 20133, Italy.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan 20141, Italy.
Fergus J CouchDepartment of Laboratory Medicine and Pathology.
Xianshu WangDepartment of Laboratory Medicine and Pathology.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Kristen PurringtonKarmanos Cancer Center, Detroit, MI 48201, USA.
Graham G GilesCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia.
Roger L MilneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia.
Catriona McleanAnatomical Pathology, The Alfred Hospital, Melbourne, VIC 3004, Australia.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Fredrick SchumacherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Jacques SimardCentre Hospitalier Universitaire de Québec Research Centre and Laval University, Quebec City, QC, Canada G1V 4G2.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, QC, Canada H3A 0G4 Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, QC, Canada H3A 1A1.
France LabrècheDépartements de Santé Environnementale et Santé au Travail et de Médecine Sociale et Préventive, École de Santé Publique, Université de Montréal, Montreal, QC, Canada H3T 1J4.
Martine DumontCentre Hospitalier Universitaire de Québec Research Centre and Laval University, Quebec City, QC, Canada G1V 4G2.
Soo Hwang TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur 50603, Malaysia.
Cheng Har YipBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur 50603, Malaysia.
Norhashimah HassanCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur 50603, Malaysia.
Eranga Nishanthie VithanaSingapore Eye Research Institute, National University of Singapore, Singapore 119077, Singapore.
Vessela KristensenDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo 0372, Norway Faculty of Medicine (Faculty Division Ahus), University of Oslo (UiO), Oslo 0316, Norway.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Sandra Deming-HalversonDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Martha J ShrubsoleDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, Northern Finland Laboratory Centre NordLab.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, Northern Finland Laboratory Centre NordLab.
Arja Jukkola-VuorinenDepartment of Oncology.
Saila KauppilaDepartment of Pathology, Oulu University Hospital, University of Oulu, Oulu 90570, Finland.
Irene L AndrulisOntario Cancer Genetics Network Department of Molecular Genetics.
Julia A KnightProsserman Centre for Health Research Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada M5S 2J7.
Gord GlendonOntario Cancer Genetics Network.
Sandrine TchatchouLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada M5G 1X5.
Peter DevileeDepartment of Human Genetics & Department of Pathology.
Robert A E M TollenaarDepartment of Surgical Oncology.
Caroline SeynaeveFamily Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands.
Christi J Van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Montserrat García-ClosasBreakthrough Breast Cancer Research Centre, Division of Breast Cancer Research Division of Genetics and Epidemiology.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Warsaw 02-781, Poland.
Louise BrintonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Judith S BrandDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Maartje J HooningFamily Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands.
Antoinette HollestelleFamily Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands.
Ans M W Van Den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3075 EA, The Netherlands.
Agnes JagerFamily Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands.
Jingmei LiShanghai Center for Disease Control and Prevention, Shanghai 200336, China.
Jianjun LiuHuman Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Wei LuShanghai Center for Disease Control and Prevention, Shanghai 200336, China.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai 220025, China.
Hui CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Simon S CrossDepartment of Neuroscience, University of Sheffield, Royal Hallamshire Hospital, Sheffield S10 2JF, UK.
Malcolm W R ReedDepartment of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA International Epidemiology Institute, Rockville, MD 20850, USA.
Lisa B SignorelloDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA International Epidemiology Institute, Rockville, MD 20850, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
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 CB1 8RN, UK.
Barbara PerkinsCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Fiona M BlowsCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Daehee KangDepartment of Preventive Medicine Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 151-742, Korea.
Keun-Young YooSeoul National University College of Medicine, Seoul 110-799, Korea.
Dong-Young NohDepartment of Surgery.
Mikael HartmanSaw Swee Hock School of Public Health Department of Surgery, Yong Loo Lin School of Medicine National University Health System, Singapore 119228, Singapore.
Hui MiaoSaw Swee Hock School of Public Health National University Health System, Singapore 119228, Singapore.
Kee Seng ChiaSaw Swee Hock School of Public Health National University Health System, Singapore 119228, Singapore.
Thomas Choudary PuttiDepartment of Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597, Singapore.
Ute HamannMolecular Genetics of Breast Cancer.
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.
Mel MaranianCentre 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.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland.
Katarzyna Jaworska-BieniekDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland.
Katarzyna DurdaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland.
Suleeporn SangrajrangNational Cancer Institute, Bangkok 10400, Thailand.
Valerie GaborieauInternational Agency for Research on Cancer, Lyon 69372, France.
Paul BrennanInternational Agency for Research on Cancer, Lyon 69372, France.
James MckayInternational Agency for Research on Cancer, Lyon 69372, France.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Amanda E TolandDepartment of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens 153 10, Greece.
Chen-Yang ShenInstitute of Biomedical Sciences College of Public Health, China Medical University, Taichung 40402, Taiwan.
Chia-Ni HsiungInstitute of Biomedical Sciences.
Pei-Ei WuTaiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan.
Shian-Ling DingDepartment of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei 11529, Taiwan.
Alan AshworthBreakthrough Breast Cancer Research Centre, Division of Breast Cancer Research.
Michael JonesDivision of Genetics and Epidemiology.
Nick OrrBreakthrough Breast Cancer Research Centre and Division of Breast Cancer Research, The Institute of Cancer Research, London SW3 6JB, UK.
Anthony J SwerdlowDivision of Genetics and Epidemiology Division of Breast Cancer Research.
Helen TsimiklisGenetic Epidemiology Laboratory, Department of Pathology.
Enes MakalicCentre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
Daniel F SchmidtCentre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
Quang M BuiCentre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA.
David J HunterProgram in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Rebecca HeinDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany PMV Research Group at the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne 50923, Germany.
Norbert DahmenDepartment of Psychiatry, University of Mainz, Mainz 55122, Germany.
Lars BeckmannInstitute for Quality and Efficiency in Health Care (IQWiG), Cologne 50670, Germany.
Kirsimari AaltonenDepartment of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland.
Taru A MuranenDepartment of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland.
Tuomas HeikkinenDepartment of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland.
Astrid IrwantoHuman Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore.
Nazneen RahmanDivision of Genetics and Epidemiology.
Clare A TurnbullDivision of Genetics and Epidemiology.
Breast and Ovarian Cancer Susceptibility (BOCS) Study
Quinten WaisfiszDepartment of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam 1081 HZ, The Netherlands and.
Hanne E J Meijers-HeijboerDepartment of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam 1081 HZ, The Netherlands and.
Muriel A AdankDepartment of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam 1081 HZ, The Netherlands and.
Rob B Van Der LuijtDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Georgia Chenevix-TrenchDepartment of Genetics.
Alison DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
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 CB1 8RN, UK.
Angela CoxDepartment of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK a.cox@sheffield.ac.uk.
University of Cambridge · GBUniversity of Southern California · USVanderbilt University · USKarolinska Institutet · SEHelsinki University Hospital · FIBreast Cancer Research Foundation · USSpanish National Cancer Research Centre · ESUniversity Malaya Medical Centre · MYInstitute of Cancer Research · GBSeoul National University · KRThe Netherlands Cancer Institute · NLUniversity of Eastern Finland · FICentre international de recherche sur le cancer · FRGerman Cancer Research Center · DEInstitute of Cytology and Genetics · RUMcGill University and Génome Québec Innovation Centre · CAThe University of Melbourne · AUUniversité Paris-Sud · FR3M (United States) · USAichi 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
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
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6 · The paper itself

Abstract

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 × 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.

Indexed as

Breast NeoplasmsCase-Control StudiesCASP8 and FADD-Like Apoptosis Regulating ProteinCaspase 8Chromosomes, Human, Pair 2FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotyping TechniquesHumansPolymorphism, Single NucleotideProteinsWhite PeopleCASP8 and FADD-Like Apoptosis Regulating ProteinCASP8 protein, humanCaspase 8CFLAR protein, humanProteins

Identifiers

PMID25168388
PMCPMC4334820
OpenAlexW2129380367

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