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Title: | Genome-wide association study of germline variants and breast cancer-specific mortality. | Authors: | Garcia-Closas M.;Moreno F.;Mulligan A.M.;Mulot C.;Nassir R.;Neuhausen S.L.;Newman W.T.;Nielsen S.F.;Nordestgaard B.G.;Norman A.;Olsson H.;Orr N.;Pankratz V.S.;Park-Simon T.-W.;Perez J.I.A.;Perez-Barrios C.;Peterlongo P.;Petridis C.;Pinchev M.;Prajzendanc K.;Prentice R.;Presneau N.;Prokofieva D.;Pylkas K.;Rack B.;Radice P.;Ramachandran D.;Rennert G.;Rennert H.S.;Rhenius V.;Romero A.;Roylance R.;Saloustros E.;Sawyer E.J.;Schmidt D.F.;Schmutzler R.K.;Schneeweiss A.;Schoemaker M.J.;Schumacher F.;Schwentner L.;Scott R.J.;Scott C.;Seynaeve C.;Shah M.;Simard J.;Smeets A.;Sohn C.;Southey M.C.;Swerdlow A.J.;Talhouk A.;Tamimi R.M.;Tapper W.J.;Teixeira M.R.;Tengstrom M.;Terry M.B.;Thone K.;Tollenaar R.A.E.M.;Tomlinson I.;Torres D.;Truong T.;Turman C.;Turnbull C.;Ulmer H.-U.;Untch M.;Vachon C.;van Asperen C.J.;van den Ouweland A.M.W.;van Veen E.M.;Wendt C.;Whittemore A.S.;Willett W.;Winqvist R.;Wolk A.;Yang X.R.;Zhang Y.;Easton D.F.;Fasching P.A.;Nevanlinna H.;Eccles D.M.;Pharoah P.D.P.;Schmidt M.K.;Escala-Garcia M.;Guo Q.;Dork T.;Canisius S.;Keeman R.;Dennis J.;Beesley J.;Lecarpentier J.;Bolla M.K.;Wang Q.;Abraham J.;Andrulis I.L.;Anton-Culver H.;Arndt V.;Auer P.L.;Beckmann M.W.;Behrens S.;Benitez J.;Bermisheva M.;Bernstein L.;Blomqvist C.;Boeckx B.;Bojesen S.E.;Bonanni B.;Borresen-Dale A.-L.;Brauch H.;Brenner H.;Brentnall A.;Brinton L.;Broberg P.;Brock I.W.;Brucker S.Y.;Burwinkel B.;Caldas C.;Caldes T.;Campa D.;Canzian F.;Carracedo A.;Carter B.D.;Castelao J.E.;Chang-Claude J.;Chanock S.J.;Chenevix-Trench G.;Cheng T.-Y.D.;Chin S.-F.;Clarke C.L.;Cordina-Duverger E.;Couch F.J.;Cox D.G.;Cox A.;Cross S.S.;Czene K.;Daly M.B.;Devilee P.;Dunn J.A.;Dunning A.M.;Durcan L.;Dwek M.;Earl H.M.;Ekici A.B.;Eliassen A.H.;Ellberg C.;Engel C.;Eriksson M.;Evans D.G.;Figueroa J.;Flesch-Janys D.;Flyger H.;Gabrielson M.;Gago-Dominguez M.;Galle E.;Gapstur S.M.;Garcia-Saenz J.A.;Gaudet M.M.;George A.;Georgoulias V.;Giles G.G.;Glendon G.;Goldgar D.E.;Gonzalez-Neira A.;Alnaes G.I.G.;Grip M.;Guenel P.;Haeberle L.;Hahnen E.;Haiman C.A.;Hakansson N.;Hall P.;Hamann U.;Hankinson S.;Harkness E.F.;Harrington P.A.;Hart S.N.;Hartikainen J.M.;Hein A.;Hillemanns P.;Hiller L.;Holleczek B.;Hollestelle A.;Hooning M.J.;Hoover R.N.;Hopper J.L.;Howell A.;Huang G.;Humphreys K.;Hunter D.J.;Janni W.;John E.M.;Jones M.E.;Jukkola-Vuorinen A.;Jung A.;Kaaks R.;Kabisch M.;Kaczmarek K.;Kerin M.J.;Khan S.;Khusnutdinova E.;Kiiski J.I.;Kitahara C.M.;Knight J.A.;Ko Y.-D.;Koppert L.B.;Kosma V.-M.;Kraft P.;Kristensen V.N.;Kruger U.;Kuhl T.;Lambrechts D.;Le Marchand L.;Lee E.;Lejbkowicz F.;Li L.;Lindblom A.;Lindstrom S.;Linet M.;Lissowska J.;Lo W.-Y.;Loibl S.;Lubinski J.;Lux M.P.;MacInnis R.J.;Maierthaler M.;Maishman T.;Makalic E.;Mannermaa A.;Manoochehri M.;Manoukian S.;Margolin S.;Martinez M.E.;Mavroudis D.;McLean C.;Meindl A.;Middha P.;Miller N.;Milne R.L. | Institution: | (Escala-Garcia, Canisius, Keeman, Schmidt) The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, Netherlands (Guo) University of Cambridge, Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, Cambridge, United Kingdom (Dork, Hillemanns, Park-Simon, Ramachandran) Hannover Medical School, Gynaecology Research Unit, Hannover, Germany (Canisius) The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Division of Molecular Carcinogenesis, Amsterdam, Netherlands (Dennis, Lecarpentier, Bolla, Wang, Easton, Pharoah) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, United Kingdom (Beesley, Chenevix-Trench) QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD, Australia (Abraham, Dunning, Harrington, Rhenius, Shah, Easton, Pharoah) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, United Kingdom (Abraham, Caldas) Cambridge Experimental Cancer Medicine Centre, Cambridge, United Kingdom (Abraham, Caldas, Earl) University of Cambridge NHS Foundation Hospitals, Cambridge Breast Unit and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom (Andrulis, Glendon) Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada (Andrulis) University of Toronto, Department of Molecular Genetics, Toronto, ON, Canada (Anton-Culver) University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA, United States (Arndt, Brenner, Zhang) German Cancer Research Center (DKFZ), Division of Clinical Epidemiology and Aging Research, Heidelberg, Germany (Auer, Prentice) Fred Hutchinson Cancer Research Center, Cancer Prevention Program, Seattle, WA, United States (Auer) University of Wisconsin-Milwaukee, Zilber School of Public Health, Milwaukee, WI, United States (Beckmann, Hein, Fasching) University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany (Behrens, Campa, Chang-Claude, Jung, Kaaks, Middha) German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany (Benitez, Gonzalez-Neira) Spanish National Cancer Research Centre (CNIO), Human Cancer Genetics Programme, Madrid, Spain (Benitez) Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain (Bermisheva, Khusnutdinova) Ufa Scientific Center of Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russian Federation (Bernstein, Neuhausen) Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA, United States (Blomqvist) University of Helsinki, Department of Oncology, Helsinki University Hospital, Helsinki, Finland (Blomqvist) Orebro University Hospital, Department of Oncology, Orebro, Sweden (Boeckx, Galle, Lambrechts) VIB, VIB Center for Cancer Biology, Leuven, Belgium (Boeckx, Galle, Lambrechts) University of Leuven, Laboratory for Translational Genetics, Department of Human Genetics, Leuven, Belgium (Bojesen, Nielsen, Nordestgaard) Copenhagen University Hospital, Copenhagen General Population Study, Herlevand Gentofte Hospital, Herlev, Denmark (Bojesen, Nielsen, Nordestgaard) Copenhagen University Hospital, Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Herlev, Denmark (Bojesen, Nordestgaard) University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen, Denmark (Bonanni) Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS Milan, Milan 20141, Italy (Borresen-Dale, Alnaes, Kristensen) Oslo University Hospital-Radiumhospitalet, Department of Cancer Genetics, Institute for Cancer Research, Oslo, Norway (Borresen-Dale, Kristensen) University of Oslo, Institute of Clinical Medicine, Faculty of Medicine, Oslo, Norway (Borresen-Dale, Kristensen) Department of Research, Vestre Viken Hospital, Drammen, Norway; Section for Breast- and Endocrine Surgery, Department of Cancer, Division of Surgery, Cancer and Transplantation Medicine, Oslo University Hospital-Ulleval, Oslo, Norway (Borresen-Dale, Kristensen) Department of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway (Borresen-Dale, Kristensen) Department of Pathology at Akershus University hospital, Lorenskog, Norway (Borresen-Dale, Kristensen) Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway (Borresen-Dale, Kristensen) Department of Oncology, Division of Surgery and Cancer and Transplantation Medicine, Oslo University Hospital-Radiumhospitalet, Oslo, Norway (Borresen-Dale, Kristensen) National Advisory Unit on Late Effects after Cancer Treatment, Department of Oncology, Oslo University Hospital, Oslo, Norway (Borresen-Dale, Kristensen) Department of Oncology, Akershus University Hospital, Lorenskog, Norway (Borresen-Dale, Kristensen) Breast Cancer Research Consortium, Oslo University Hospital, Oslo, Norway (Brauch, Lo) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany (Brauch, Lo) University of Tubingen, Tubingen, Germany (Brauch, Brenner, Zhang) German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany (Brenner) German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Division of Preventive Oncology, Heidelberg, Germany (Brentnall) Queen Mary University of London, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, London, United Kingdom (Brinton, Chanock, Figueroa, Garcia-Closas, Hoover, Yang) National Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD, United States (Broberg, Ellberg, Kruger, Olsson) Lund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden (Brock, Cox) University of Sheffield, Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, Sheffield, United Kingdom (Brucker) University of Tubingen, Department of Gynecology and Obstetrics, Tubingen, Germany (Burwinkel, Schneeweiss) University of Heidelberg, Department of Obstetrics and Gynecology, Heidelberg, Germany (Burwinkel, Canzian, Maierthaler) German Cancer Research Center (DKFZ), Molecular Epidemiology Group, Heidelberg C080, Germany (Caldas) The Institute of Cancer Research, Section of Cancer Genetics, London, United Kingdom (Caldes, Garcia-Saenz, Moreno) Instituto de Investigacion Sanitaria San Carlos (IdISSC), Centro Investigacion Biomedica en Red de Cancer (CIBERONC), Medical Oncology Department, Hospital Cl'nico San Carlos, Madrid, Spain (Campa) University of Pisa, Department of Biology, Pisa, Italy (Carracedo, Gago-Dominguez) Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Genomic Medicine Group, Galician Foundation of Genomic Medicine, SERGAS, Santiago de Compostela, Spain (Carracedo) Universidad de Santiago de Compostela, Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Santiago De Compostela, Spain (Carracedo) King Abdulaziz University, Center of Excellence in Genomic Medicine, Jeddah, Saudi Arabia (Carter, Gapstur, Gaudet) American Cancer Society, Epidemiology Research Program, Atlanta, GA, United States (Castelao) Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo, Spain (Chang-Claude, Kuhl, Thone) University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg, Germany (Cheng) Roswell Park Cancer Institute, Division of Cancer Prevention and Control, Buffalo, NY, United States (Chin) University of Cambridge, Cancer Research UK Cambridge Institute, Cambridge, United Kingdom (Clarke) University of Sydney, Westmead Institute for Medical Research, Sydney, NSW, Australia (Cordina-Duverger, Guenel, Truong) INSERM, University Paris-Sud, University Paris-Saclay, Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), Villejuif, France (Couch) Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, United States (Cox) Imperial College London, Department of Epidemiology and Biostatistics, School of Public Health, London, United Kingdom (Cox) Cancer Research Center of Lyon, INSERM, Lyon U1052, France (Cross) University of Sheffield, Academic Unit of Pathology, Department of Neuroscience, Sheffield, United Kingdom (Czene, Eriksson, Gabrielson, Hall, Humphreys) Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden (Daly) Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA, United States (Devilee) Leiden University Medical Center, Department of Pathology, Leiden, Netherlands (Devilee) Leiden University Medical Center, Department of Human Genetics, Leiden, Netherlands (Dunn, Hiller) University of Warwick, Warwick Clinical Trials Unit, Coventry, United Kingdom (Durcan, Maishman) University of Southampton, Southampton Clinical Trials Unit, Faculty of Medicine, Southampton, United Kingdom (Durcan, Maishman, Eccles) University of Southampton, Cancer Sciences Academic Unit, Faculty of Medicine, Southampton, United Kingdom (Dwek, Presneau) University of Westminster, Department of Biomedical Sciences, Faculty of Science and Technology, London, United Kingdom (Earl) University of Cambridge, Department of Oncology, Cambridge, United Kingdom (Ekici) Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Institute of Human Genetics, University Hospital Erlangen, Erlangen, Germany (Eliassen, Tamimi) Harvard Medical School, Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, United States (Eliassen, Hunter, Kraft, Tamimi, Turman, Willett) Harvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA, United States (Engel) University of Leipzig, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, Germany (Engel) University of Leipzig, LIFE - Leipzig Research Centre for Civilization Diseases, Leipzig, Germany (Evans, Newman, van Veen) University of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, United Kingdom (Evans, Newman, van Veen) St Marys Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester Centre for Genomic Medicine, Manchester, United Kingdom (Figueroa) The University of Edinburgh Medical School, Usher Institute of Population Health Sciences and Informatics, Edinburgh, United Kingdom (Figueroa) Cancer Research UK Edinburgh Centre, Edinburgh, United Kingdom (Flesch-Janys) University Medical Centre Hamburg-Eppendorf, Institute for Medical Biometrics and Epidemiology, Hamburg, Germany (Flesch-Janys) University Medical Centre Hamburg-Eppendorf, Department of Cancer Epidemiology, Clinical Cancer Registry, Hamburg, Germany (Flyger) Copenhagen University Hospital, Department of Breast Surgery, Herlev and Gentofte Hospital, Herlev, Denmark (Gago-Dominguez, Martinez) University of California San Diego, Moores Cancer Center, La Jolla, CA, United States (Garcia-Closas, Jones) Institute of Cancer Research, Division of Genetics and Epidemiology, London, United Kingdom (George, Schoemaker, Swerdlow, Turnbull) The Institute of Cancer Research, Division of Genetics and Epidemiology, London, United Kingdom (George) The Royal Marsden NHS Foundation Trust, Cancer Genetics Unit, London, United Kingdom (Georgoulias, Mavroudis) University Hospital of Heraklion, Department of Medical Oncology, Heraklion, Greece (Giles, MacInnis, Milne) Cancer Council Victoria, Cancer Epidemiology & Intelligence Division, Melbourne, VIC, Australia (Giles, Hopper, MacInnis, Makalic, Milne, Schmidt) The University of Melbourne, Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, Melbourne, VIC, Australia (Giles) Monash University, Department of Epidemiology and Preventive Medicine, Melbourne, VIC, Australia (Goldgar) Huntsman Cancer Institute, University of Utah School of Medicine, Department of Dermatology, Salt Lake City, UT, United States (Grip) University of Oulu, Department of Surgery, Oulu University Hospital, Oulu, Finland (Haeberle, Lux) Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Centre Erlangen-EMN, Department of Gynaecology and Obstetrics, University Hospital Erlangen, Erlangen, Germany (Hahnen, Schmutzler) University Hospital of Cologne, Centre for Hereditary Breast and Ovarian Cancer, Cologne, Germany (Hahnen, Schmutzler) University of Cologne, Centre for Molecular Medicine Cologne (CMMC), Cologne, Germany (Haiman, Lee) University of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA, United States (Hakansson) Karolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden (Hall) South General Hospital, Department of Oncology, Stockholm, Sweden (Hamann, Huang, Kabisch, Manoochehri, Torres) German Cancer Research Centre (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany (Hankinson) University of Massachusetts, Amherst, Department of Biostatistics & Epidemiology, Amherst, MA, United States (Harkness) University of Manchester, Manchester Academic Health Science Centre, Division of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, Manchester, United Kingdom (Harkness) Wythenshawe Hospital, Manchester University NHS Foundation Trust, Nightingale Breast Screening Centre, Manchester, United Kingdom (Harkness) Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, NIHR Manchester Biomedical Research Unit, Manchester, United Kingdom (Hart, Norman, Scott, Vachon) Mayo Clinic, Department of Health Sciences Research, Rochester, MN, United States (Hartikainen, Kosma, Mannermaa, Tengstrom) University of Eastern Finland, Translational Cancer Research Area, Kuopio, Finland (Hartikainen, Kosma, Mannermaa) University of Eastern Finland, Institute of Clinical Medicine, Pathology and Forensic Medicine, Kuopio, Finland (Hartikainen, Kosma, Mannermaa) Kuopio University Hospital, Imaging Centre, Department of Clinical Pathology, Kuopio, Finland (Holleczek) Saarland Cancer Registry, Saarbruecken, Germany (Hollestelle, Hooning, Seynaeve) Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, Netherlands (Howell) University of Manchester, Institute of Cancer studies, Manchester, United Kingdom (Hunter, Kraft, Tamimi) Harvard T.H. Chan School of Public Health, Program in Genetic Epidemiology and Statistical Genetics, Boston, MA, United States (Hunter) University of Oxford, Nuffield Department of Population Health, Oxford, United Kingdom (Janni, Schwentner) Cancer Research UK Edinburgh Centre, Edinburgh, United Kingdom (John) Cancer Prevention Institute of California, Department of Epidemiology, Fremont, CA, United States (John, Whittemore) Stanford University School of Medicine, Department of Health Research and Policy - Epidemiology, Stanford, CA, United States (John, Whittemore) Stanford University School of Medicine, Department of Biomedical Data Science, Stanford, CA, United States (Jukkola-Vuorinen) Tampere University Hospital, Department of Oncology, Tampere, Finland (Kaczmarek, Lubinski, Prajzendanc) Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland (Kerin, Miller) National University of Ireland, Surgery, School of Medicine, Galway, Ireland (Khan, Kiiski, Nevanlinna) University of Helsinki, Department of Obstetrics and Gynaecology, Helsinki University Hospital, Helsinki, Finland (Khusnutdinova, Prokofieva) Bashkir State University, Department of Genetics and Fundamental Medicine, Ufa, Russian Federation (Kitahara, Linet) National Cancer Institute, Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD, United States (Knight) Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Prosserman Centre for Population Health Research, Toronto, ON, Canada (Knight) University of Toronto, Division of Epidemiology, Dalla Lana School of Public Health, Toronto, ON, Canada (Ko) Johanniter Krankenhaus, Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Bonn, Germany (Koppert) Erasmus MC Cancer Institute, Department of Surgical Oncology, Family Cancer Clinic, Rotterdam, Netherlands (Le Marchand) University of Hawaii Cancer Center, Epidemiology Program, Honolulu, HI, United States (Lejbkowicz, Pinchev, Rennert, Rennert) Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel (Li) Tianjin Medical University Cancer Institute and Hospital, Department of Epidemiology, Tianjin, China (Lindblom) Karolinska Institutet, Department of Molecular Medicine and Surgery, Stockholm, Sweden (Lindstrom) University of Washington School of Public Health, Department of Epidemiology, Seattle, WA, United States (Lindstrom) Fred Hutchinson Cancer Research Center, Public Health Sciences Division, Seattle, WA, United States (Lissowska) M. Sklodowska-Curie Cancer Centre, Oncology Institute, Department of Cancer Epidemiology and Prevention, Warsaw, Poland (Loibl) GmbH, German Breast Group, Neu Isenburg, Germany (Manoukian) Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Unit of Medical Genetics, Department of Medical Oncology and Haematology, Milan, Italy (Margolin) Karolinska Institutet, Department of Clinical Science and Education, Ssdersjukhuset, Stockholm, Sweden (Martinez) University of California San Diego, Department of Family Medicine and Public Health, La Jolla, CA, United States (McLean) The Alfred Hospital, Anatomical Pathology, Melbourne, VIC, Australia (Meindl, Rack) Ludwig Maximilian University of Munich, Department of Gynaecology and Obstetrics, Munich, Germany (Middha) University of Heidelberg, Faculty of Medicine, Heidelberg, Germany (Mulligan) University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada (Mulligan) University Health Network, Laboratory Medicine Program, Toronto, ON, Canada (Mulot) INSERM UMR-S1147, Universite Paris Sorbonne Cite, Paris, France (Nassir) University of California Davis, Department of Biochemistry and Molecular Medicine, Davis, CA, United States (Orr) Queen's University Belfast, Centre for Cancer Research and Cell Biology, Belfast, Ireland, United Kingdom (Pankratz) University of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, NM, United States (Perez) Hospital Monte Naranco, Servicio de Cirug'a General y Especialidades, Oviedo, Spain (Perez-Barrios, Romero) Hospital Universitario Puerta de Hierro, Medical Oncology Department, Madrid, Spain (Peterlongo) The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, IFOM, Milan, Italy (Petridis, Sawyer) King's College London, Research Oncology, Guy's Hospital, London, United Kingdom (Pylkas, Winqvist) University of Oulu, Laboratory of Cancer Genetics and Tumour Biology, Cancer and Translational Medicine Research Unit, Biocentre Oulu, Oulu, Finland (Pylkas, Winqvist) Northern Finland Laboratory Centre Oulu, Laboratory of Cancer Genetics and Tumour Biology, Oulu, Finland (Radice) Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy (Roylance) UCLH Foundation Trust, Department of Oncology, London, United Kingdom (Saloustros) University Hospital of Larissa, Department of Oncology, Larissa, Greece (Schneeweiss, Sohn) University of Heidelberg, National Centre for Tumour Diseases, Heidelberg, Germany (Schumacher) Case Western Reserve University, Department of Population and Quantitative Health Sciences, Cleveland, OH, United States (Scott) John Hunter Hospital, Division of Molecular Medicine, Pathology North, Newcastle, NSW, Australia (Scott) University of Newcastle, Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, Callaghan, NSW, Australia (Scott) John Hunter Hospital, Hunter Medical Research Institute, Newcastle, NSW, Australia (Scott) University of Newcastle, Centre for Information Based Medicine, Callaghan, Newcastle, NSW, Australia (Simard) Centre Hospitalier Universitaire de Quebec - Universite Laval Research Centre, Genomics Centre, Quebec City, QC, Canada (Smeets) University Hospitals Leuven, Department of Surgical Oncology, Leuven, Belgium (Southey) Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC, Australia (Southey) The University of Melbourne, Department of Clinical Pathology, Melbourne, VIC, Australia (Swerdlow) The Institute of Cancer Research, Division of Breast Cancer Research, London, United Kingdom (Talhouk) BC Cancer Agency and University of British Columbia, British Columbia's Ovarian Cancer Research (OVCARE) Program, Vancouver General Hospital, Vancouver, BC, Canada (Talhouk) University of British Columbia, Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada (Talhouk) University of British Columbia, Department of Obstetrics and Gynaecology, Vancouver, BC, Canada (Tapper) University of Southampton, Faculty of Medicine, Southampton, United Kingdom (Teixeira) Portuguese Oncology Institute, Department of Genetics, Porto, Portugal (Teixeira) University of Porto, Biomedical Sciences Institute (ICBAS), Porto, Portugal (Tengstrom) Kuopio University Hospital, Cancer Centre, Kuopio, Finland (Tengstrom) University of Eastern Finland, Institute of Clinical Medicine, Oncology, Kuopio, Finland (Terry) Columbia University, Department of Epidemiology, Mailman School of Public Health, New York, NY, United States (Tollenaar) Leiden University Medical Centre, Department of Surgery, Leiden, Netherlands (Tomlinson) University of Birmingham, Institute of Cancer and Genomic Sciences, Birmingham, United Kingdom (Tomlinson) University of Oxford, Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom (Torres) Pontificia Universidad Javeriana, Institute of Human Genetics, Bogota, Colombia (Ulmer) Frauenklinik der Stadtklinik Baden-Baden, Baden-Baden, Germany (Untch) Helios Clinics Berlin-Buch, Department of Gynaecology and Obstetrics, Berlin, Germany (van Asperen) Leiden University Medical Centre, Department of Clinical Genetics, Leiden, Netherlands (van den Ouweland) Erasmus University Medical Centre, Department of Clinical Genetics, Rotterdam, Netherlands (Wendt) Karolinska Institutet, Department of Clinical Science and Education, Sodersjukhuset, Stockholm, Sweden (Willett) Harvard T.H. Chan School of Public Health, Department of Nutrition, Boston, MA, United States (Willett) Brigham and Women's Hospital and Harvard Medical School, Channing Division of Network Medicine, Boston, MA, United States (Wolk) Karolinska Institutet, Department of Environmental Medicine, Division of Nutritional Epidemiology, Stockholm, Sweden (Fasching) University of California at Los Angeles, David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, Los Angeles, CA, United States (Schmidt) The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Division of Psychosocial Research and Epidemiology, Amsterdam, Netherlands | Issue Date: | 31-Mar-2019 | Copyright year: | 2019 | Publisher: | Nature Publishing Group (Houndmills, Basingstoke, Hampshire RG21 6XS, United Kingdom) | Place of publication: | United Kingdom | Publication information: | British Journal of Cancer. 120 (6) (pp 647-657), 2019. Date of Publication: 19 Mar 2019. | Journal: | British Journal of Cancer | Abstract: | Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Method(s): Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Result(s): We did not find any variant associated with breast cancer-specific mortality at P < 5 x 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 x 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 x 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusion(s): We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.Copyright © 2019, The Author(s). | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1038/s41416-019-0393-x | PubMed URL: | 30787463 [http://www.ncbi.nlm.nih.gov/pubmed/?term=30787463] | ISSN: | 0007-0920 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/36188 | Type: | Article |
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