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

Wei-Yu Lin^{1, 2} , Reed M.W.R.¹ , Cox A.¹ , Camp N.J.³ , Ghoussaini M.⁴ , Michailidou K.⁴ , Bolla M.K.⁴ , Wang Q.⁴ , Dennis J.⁴ , Pharoah P.D.P.^{4, 5} , Easton D.F.^{4, 5} , Perkins B.⁵ , Shah M.⁵ , Blows F.M.⁵ , Luccarini C.⁵ , Baynes C.⁵ , Ahmed S.⁵ , Maranian M.⁵ , Healey C.S.⁵ , Dunning A.⁵ , Beesley J.⁶ , Chenevix-Trench G.⁶ , Hopper J.L.⁸ , Apicella C.⁸ , Giles G.G.^{8, 92} , Milne R.L.^{8, 92} , Southey M.C.⁹ , Stone J.¹⁰ , Tsimiklis H.¹¹ , Makalic E.¹² , Schmidt D.F.¹² , Bui Q.M.¹² , Schmidt M.K.¹³ , Broeks A.¹³ , Van't Veer L.J.¹³ , Th Rutgers E.J.¹³ , Muir K.^{14, 15} , Lophatananon A.¹⁴ , Stewart-Brown S.¹⁴ , Siriwanarangsan P.¹⁶ , Fasching P.A.^{17, 19} , Haeberle L.¹⁷ , Beckmann M.W.¹⁷ , Ekici A.B.¹⁸ , Peto J.²⁰ , Dos-Santos-Silva I.²⁰ , Fletcher O.²¹ , Johnson N.²¹ , García-Closas M.^{22, 116} , Ashworth A.²² , Orr N.²³ , Sawyer E.J.²⁴ , Cheng T.²⁵ , Tomlinson I.²⁵ , Kerin M.J.²⁶ , Miller N.²⁶ , Frederik Marmé^{27, 28} , Surowy H.M.^{27, 29} , Burwinkel B.^{27, 29} , Brenner H.^{30, 31} , Dieffenbach A.K.^{30, 31} , Arndt V.³⁰ , Brauch H.^{31, 54, 55} , Chang-Claude J.³² , Rudolph A.³² , Seibold P.³² , Hamann U.³³ , Hein R.³⁴ , Guénel P.^{35, 36} , Truong T.^{35, 36} , Menegaux F.^{35, 36} , Mulot C.³⁷ , Bojesen S.E.^{38, 39, 41} , Nordestgaard B.G.^{38, 39, 41} , Nielsen S.F.^{38, 39} , Flyger H.⁴⁰ , Benitez J.^{42, 44} , González-Neira A.⁴³ , Pita G.⁴³ , Rosario Alonso M.⁴³ , Álvarez N.⁴³ , Herrero D.⁴³ , Pilar Zamora M.⁴⁵ , Perez J.I.A.⁴⁶ , Menéndez P.⁴⁷ , Anton-Culver H.⁴⁸ , Stegmaier C.⁴⁹ , Meindl A.⁵⁰ , Lichtner P.⁵¹ , Schmutzler R.K.⁵² , Müller-Myhsok B.⁵³ , Brüning T.⁵⁶ , Ko Y.D.⁵⁷ , Tessier D.C.⁶⁰ , Vincent D.⁶⁰ , Bacot F.⁶⁰ , Nevanlinna H.^{27, 63} , Khan S.^{27, 63} , Aaltonen K.^{27, 63} , Muranen T.A.^{27, 63} , Heikkinen T.^{27, 63} , Aittomäki K.^{63, 61} , Blomqvist C.^{63, 62} , Matsuo K.⁶⁴ , Ito H. ⁶⁵ , Iwata H.⁶⁶ , Horio A.⁶⁶ , Bogdanova N.V. ^{67, 68} , Dörk T. ⁶⁷ , Antonenkova N.N.⁶⁹ , Lindblom A.⁷⁰ , Margolin S.⁷¹ , Czene K.⁷² , Darabi H.⁷² , Eriksson M.⁷² , Brand J.S.⁷² , Humphreys K.⁷² , Hall P.⁷² , Mannermaa A.^{73, 75} , Kosma V.M.^{73, 75} , Hartikainen J.M.^{73, 75} , Kataja V.^{74, 76} , Wu A.H.⁷⁸ , Tseng C.C.⁷⁸ , Van Den Berg D.⁷⁸ , Stram D.O.⁷⁸ , Haiman C.A.⁷⁸ , Henderson B.E.⁷⁸ , Schumacher F.⁷⁸ , Neven P.⁷⁹ , Wauters E.^{80, 81} , Lambrechts D.^{80, 82} , Wildiers H.⁸³ , Flesch-Janys D.⁸⁴ , Radice P.⁸⁵ , Manoukian S.⁸⁶ , Peterlongo P.⁸⁷ , Bonanni B.⁸⁸ , Couch F.J.⁸⁹ , Wang X. ⁸⁹ , Vachon C.⁹⁰ , Slager S.⁹⁰ , Purrington K.⁹¹ , Mclean C.⁹³ , Marchand L.L.⁹⁴ , Simard J.⁹⁵ , Dumont M.⁹⁵ , Goldberg M.S.^{96, 97} , Labrèche F.⁹⁸ , Teo S.H.^{99, 100} , Hassan N.^{99, 100} , Yip C.H.¹⁰⁰ , Vithana E.N.¹⁰¹ , Kristensen V.^{102, 103} , Zheng W.¹⁰⁴ , Deming-Halverson S.¹⁰⁴ , Shrubsole M.J.¹⁰⁴ , Long J. ¹⁰⁴ , Shu X.O.¹⁰⁴ , Cai H.¹⁰⁴ , Blot W.^{104, 126} , Signorello L.B.^{104, 126} , Cai Q.¹⁰⁴ , Winqvist R.¹⁰⁵ , Pylkäs K.¹⁰⁵ , Jukkola-Vuorinen A.⁸¹ , Kauppila S.¹⁰⁶ , Andrulis I.L.^{107, 110} , Glendon G.¹⁰⁷ , Knight J.A.^{108, 111} , Tchatchou S.¹⁰⁹ , Devilee P.¹¹² , Tollenaar R.A.E.M.¹¹³ , Van Asperen C.J.¹¹⁴ , Seynaeve C.¹¹⁵ , Hooning M.J.¹¹⁵ , Hollestelle A.¹¹⁵ , Jager A.¹¹⁵ , Jones M.¹¹⁶ , Swerdlow A.J.^{116, 117} , Rahman N.¹¹⁶ , Turnbull C.A.¹¹⁶ , Van Der Luijt R.B.¹¹⁸ , Figueroa J.¹¹⁹ , Brinton L.¹¹⁹ , Chanock S.J.¹¹⁹ , Lissowska J.¹²⁰ , Van DenOuweland A.M.W.¹²¹ , Liu J.¹²² , Irwanto A.¹²² , Li J. ¹²³ , Lu W.¹²³ , Gao Y.T.¹²⁴ , Cross S.S.¹²⁵ , Kang D.^{127, 130} , Noh D.Y.¹²⁸ , Yoo K.Y.¹²⁹ , Hartman M.^{131, 132, 134} , Miao H.^{131, 134} , Chia K.S.^{131, 134} , Putti T.C.¹³³ , Jakubowska A.¹³⁵ , Lubinski J.¹³⁵ , Jaworska-Bieniek K.¹³⁵ , Durda K.¹³⁵ , Sangrajrang S.¹³⁶ , Gaborieau V.¹³⁷ , Brennan P.¹³⁷ , Mckay J.¹³⁷ , Toland A.E.¹³⁸ , Yannoukakos D.¹³⁹ , Shen C.Y.^{140, 142} , Hsiung C.N.¹⁴⁰ , Wu P.E.¹⁴¹ , Ding S.L.¹⁴³ , Hunter D.J.¹⁴⁴ , Dahmen N. , Beckmann L. , Waisfisz Q. , Meijers-Heijboer H.E.J. , Adank M.A.

Human Molecular Genetics

Oxford University Press

1

Английский

285-298

Опубликовано

24

2015

• ¹ Department of Oncology, University of Sheffield Medical School
• ² Department of Neurosurgery, Chang Gung Memorial Hospital
• ³ Department of Internal Medicine, University of Utah School of Medicine
• ⁴ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care
• ⁵ Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge
• ⁶ Department of Genetics
• ⁷ Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health
• ⁸ Cancer Epidemiology Centre, Cancer Council Victoria
• ⁹ Department of Pathology, Melbourne School of Population Health
• ¹⁰ Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, MelbourneSchool of Population Health
• ¹¹ Genetic Epidemiology Laboratory, Department of Pathology
• ¹² Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne
• ¹³ Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital
• ¹⁴ Division of Health Sciences, Warwick Medical School, Warwick University
• ¹⁵ Institute of Population Health, University of Manchester
• ¹⁶ Ministry of Public Health
• ¹⁷ University Breast Center Franconia, Department of Gynecology and Obstetrics
• ¹⁸ David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California
• ¹⁹ Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg
• ²⁰ Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine
• ²¹ Breakthrough Breast Cancer Research Centre
• ²² Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research
• ²³ Division of Genetics and Epidemiology
• ²⁴ Breakthrough Breast Cancer Research Centre and Division of Breast Cancer Research, The Institute of Cancer Research
• ²⁵ Division of Cancer Studies, Kings College London, Guy's Hospital
• ²⁶ Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford
• ²⁷ School of Medicine, National University of Ireland
• ²⁸ Department of Obstetrics and Gynecology
• ²⁹ National Center for Tumor Diseases, University of Heidelberg
• ³⁰ Molecular Epidemiology Group
• ³¹ Division of Clinical Epidemiology and Aging Research
• ³² German Cancer Consortium (DKTK)
• ³³ Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology
• ³⁴ University of Tübingen
• ³⁵ Division of Cancer Epidemiology
• ³⁶ Molecular Genetics of Breast Cancer
• ³⁷ Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
• ³⁸ PMV Research Group, Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne
• ³⁹ Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer
• ⁴⁰ University Paris-Sud, UMRS1018
• ⁴¹ Université Paris Sorbonne Cité, UMR-S775 Inserm
• ⁴² Copenhagen General Population Study, Herlev Hospital
• ⁴³ Department of Clinical Biochemistry
• ⁴⁴ Faculty of Health and Medical Sciences, University of Copenhagen
• ⁴⁵ Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital
• ⁴⁶ Human Genetics Group
• ⁴⁷ Centro de Investigación en Red de Enfermedades Raras (CIBERER)
• ⁴⁸ Human Genotyping-CEGEN Unit, Spanish National Cancer Research Centre (CNIO)
• ⁴⁹ Servicio de Oncología Médica, Hospital Universitario La Paz
• ⁵⁰ Servicio de Cirugía General y Especialidades
• ⁵¹ Servicio de Anatomía Patológica, Hospital Monte Naranco
• ⁵² Department of Epidemiology, University of California Irvine
• ⁵³ Saarland Cancer Registry
• ⁵⁴ Division of Gynaecology and Obstetrics
• ⁵⁵ Insitute of Human Genetics, Technische Universität München
• ⁵⁶ Center 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
• ⁵⁷ Max Planck Institute of Psychiatry
• ⁵⁸ Institute for Prevention and Occupational Medicine of theGerman Social Accident Insurance, Institute of the Ruhr-University Bochum(IPA)
• ⁵⁹ Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus
• ⁶⁰ Centre D'innovation Génome Québec et Université McGill
• ⁶¹ Helsinki University Central Hospital
• ⁶² Department of Clinical Genetics
• ⁶³ Department of Oncology, University of Helsinki
• ⁶⁴ Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences
• ⁶⁵ Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute
• ⁶⁶ Department of Breast Oncology, Aichi Cancer Center Hospital
• ⁶⁷ Department of Obstetrics and Gynaecology
• ⁶⁸ Department of Radiation Oncology, Hannover Medical School
• ⁶⁹ N.N. Alexandrov Research Institute of Oncology and Medical Radiology
• ⁷⁰ Department of Molecular Medicine and Surgery
• ⁷¹ Department of Oncology-Pathology
• ⁷² Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
• ⁷³ School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland
• ⁷⁴ Imaging Center, Department of Clinical Pathology
• ⁷⁵ School of Medicine, Institute of Clinical Medicine, Oncology, University of Eastern Finland
• ⁷⁶ Cancer Center, Kuopio University Hospital
• ⁷⁷ Department of Preventive Medicine, Keck School of Medicine, University of Southern California
• ⁷⁸ University Hospital Gashuisberg
• ⁷⁹ Vesalius Research Center (VRC), VIB
• ⁸⁰ Department of Oncology
• ⁸¹ Laboratory for Translational Genetics, Department of Oncology
• ⁸² Department of General Medical Oncology, University Hospitals Leuven
• ⁸³ Department of Cancer Epidemiology/Clinical Cancer Registry, Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf
• ⁸⁴ Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine
• ⁸⁵ Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT)
• ⁸⁶ IFOM, Fondazione Istituto FIRC di Oncologia Molecolare
• ⁸⁷ Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO)
• ⁸⁸ Department of Laboratory Medicine and Pathology
• ⁸⁹ Department of Health Sciences Research, Mayo Clinic
• ⁹⁰ Karmanos Cancer Center
• ⁹¹ Anatomical Pathology, The Alfred Hospital
• ⁹² University of Hawaii Cancer Center
• ⁹³ Centre Hospitalier Universitaire de Québec Research Centre and Laval University
• ⁹⁴ Department of Medicine, McGill University
• ⁹⁵ Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital
• ⁹⁶ Departements de Sante Environnementale et Sante au Travail et de Medecine Sociale et Preventive, É cole de Santé Publique, Université de Montré al
• ⁹⁷ Cancer Research Initiatives Foundation, Sime Darby Medical Centre
• ⁹⁸ Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre
• ⁹⁹ Singapore Eye Research Institute, National University of Singapore
• ¹⁰⁰ Department of Genetics, Institute for Cancer Research, Oslo University Hospital
• ¹⁰¹ Faculty of Medicine (Faculty Division Ahus), University of Oslo (UiO)
• ¹⁰² Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine
• ¹⁰³ International Epidemiology Institute
• ¹⁰⁴ Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, Northern Finland Laboratory Centre NordLab
• ¹⁰⁵ Department of Pathology, Oulu University Hospital, University of Oulu
• ¹⁰⁶ Ontario Cancer Genetics Network
• ¹⁰⁷ Department of Molecular Genetics
• ¹⁰⁸ Prosserman Centre for Health Research
• ¹⁰⁹ Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto
• ¹¹⁰ Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital
• ¹¹¹ Department of Human Genetics and Department of Pathology
• ¹¹² Department of Surgical Oncology
• ¹¹³ Department of Clinical Genetics, Leiden University Medical Center
• ¹¹⁴ Family Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute
• ¹¹⁵ Division of Breast Cancer Research
• ¹¹⁶ Department of Medical Genetics, University Medical Center Utrecht
• ¹¹⁷ Division of Cancer Epidemiology and Genetics, National Cancer Institute
• ¹¹⁸ Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology
• ¹¹⁹ Department of Clinical Genetics, Erasmus University Medical Center
• ¹²⁰ Human Genetics Division, Genome Institute of Singapore
• ¹²¹ Shanghai Center for Disease Control and Prevention
• ¹²² Department of Epidemiology, Shanghai Cancer Institute
• ¹²³ Department of Neuroscience, University of Sheffield, Royal Hallamshire Hospital
• ¹²⁴ Department of Preventive Medicine
• ¹²⁵ Department of Biomedical Sciences, Seoul National University Graduate School
• ¹²⁶ Department of Surgery
• ¹²⁷ Seoul National University College of Medicine
• ¹²⁸ SawSwee Hock School of Public Health
• ¹²⁹ Department of Surgery, Yong Loo Lin School of Medicine
• ¹³⁰ National University Health System
• ¹³¹ Department of Pathology, Yong Loo Lin School of Medicine, National University of Singapore
• ¹³² Department of Genetics and Pathology, Pomeranian Medical University
• ¹³³ National Cancer Institute
• ¹³⁴ International Agency for Research on Cancer
• ¹³⁵ Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University
• ¹³⁶ Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis
• ¹³⁷ Institute of Biomedical Sciences
• ¹³⁸ College of Public Health, China Medical University
• ¹³⁹ Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica
• ¹⁴⁰ Department of Nursing, Kang-Ning Junior College of Medical Care and Management
• ¹⁴¹ Harvard School of Public Health
• ¹⁴² Department of Psychiatry, University of Mainz
• ¹⁴³ Institute for Quality and Efficiency in Health Care (IQWiG)
• ¹⁴⁴ Department of Clinical Genetics, Section Oncogenetics, VU University Medical Center