Breast Cancer Risk Genes-Association Analysis in More than 113,000 Women
作者机构：The authors' affiliations are as follows: the Centre for Cancer Genetic Epidemiology Departments of Public Health and Primary Care (L.D. S. Carvalho J.A. K.A.P. Q.W. M.K.B. J.D. B.D. N. Mavaddat K. Michailidou A.C.A. P.D.P.P. D.F.E.) and Oncology (C.L. P.A.H. C. Baynes D.M.C. L.F. V.R. M. Shah P.D.P.P. A.M.D. D.F.E.) University of Cambridge Cambridge the Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine (A. Campbell D.J.P.) and the Centre for Cognitive Ageing and Cognitive Epidemiology Department of Psychology (D.J.P.) University of Edinburgh the Cancer Research UK Edinburgh Centre (D.A.C. J.F.) and the Usher Institute of Population Health Sciences and Informatics University of Edinburgh Medical School (A. Campbell J.F.) Edinburgh the Divisions of Informatics Imaging and Data Sciences (E.F.H.) Cancer Sciences (A. Howell) Population Health Health Services Research and Primary Care (A. Lophatananon K. Muir) and Evolution and Genomic Sciences School of Biological Sciences (W.G.N. E.M.V. D.G.E.) University of Manchester the NIHR Manchester Biomedical Research Unit (E.F.H.) and the Nightingale Breast Screening Centre Wythenshawe Hospital (E.F.H. H.I.) Academic Health Science Centre and North West Genomics Laboratory Hub and the Manchester Centre for Genomic Medicine St. Mary's Hospital Manchester University NHS Foundation Trust (W.G.N. E.M.V. D.G.E.) Manchester the School of Cancer and Pharmaceutical Sciences Comprehensive Cancer Centre Guy's Campus King's College London London (E.J.S.) the Institute of Cancer and Genomic Sciences University of Birmingham Birmingham (I.T.) and the Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre University of Oxford Oxford (I.T.) - all in the United Kingdom the Human Genotyping-CEGEN Unit Human Cancer Genetic Program (A.G.-N. M.R.A. N.Á. B.H. R.N.-T.) and the Human Genetics Group (V.F. A.O. J.B.) Spanish National Cancer Research Center Centro de Investigación en Red de Enfermedades Raras (A.O. J.B.) Servicio de Oncología Médica Hospital Universitario La Paz (M.P.Z.) and Molecular Oncology Laboratory Hospital Clinico San Carlos Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (M. de la Hoya) Madrid the Genomic Medicine Group Galician Foundation of Genomic Medicine Instituto de Investigación Sanitaria de Santiago de Compostela Complejo Hospitalario Universitario de Santiago (A. Carracedo M.G.-D.) and Centro de Investigación en Red de Enfermedades Raras y Centro Nacional de Genotipado Universidad de Santiago de Compostela (A. Carracedo) Santiago de Compostela the Oncology and Genetics Unit Instituto de Investigacion Sanitaria Galicia Sur Xerencia de Xestion Integrada de Vigo-Servizo Galeo de Saúde Vigo (J.E.C.) and Servicio de Cirugía General y Especialidades Hospital Monte Naranco Oviedo (J.I.A.P.) - all in Spain the Division of Oncology and Pathology Department of Clinical Sciences Lund Lund University Lund (C. Wahlström J.V. M.L. T. Törngren Å.B. A.K.) the Department of Oncology Örebro University Hospital Örebro (C. Blomqvist) and the Departments of Medical Epidemiology and Biostatistics (K.C. M.E. M.G. P. Hall W.H. K.H.) Oncology Södersjukhuset (P. Hall S. Margolin) Molecular Medicine and Surgery (A. Lindblom) and Clinical Science and Education Södersjukhuset (S. Margolin C. Wendt) Karolinska Institutet and the Department of Clinical Genetics Karolinska University Hospital (A. Lindblom) Stockholm - all in Sweden the Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute Brisbane QLD (M.T.P. C.F. G.C.-T. A.B.S.) the Cancer Epidemiology Division Cancer Council Victoria (G.G.G. R.J.M. R.L.M.) the Centre for Epidemiology and Biostatistics Melbourne School of Population and Global Health (G.G.G. R.J.M. R.L.M.) and the Department of Clinical Pathology (M.C.S.) University of Melbourne Anatomical Pathology Alfred Hospital (C.M.) and the Cancer Epidemiology Division Cancer Council Victoria (M.C.S.) Melbourne VIC and Precision Medicine School of Clinical Sciences at Monash Health Monash University Clayton VIC (G.G.G. M.C.S. R.L.M.) - all in Australia the Division of Molecular Pathology (R.K. S. Cornelissen M.K.S.) Family Cancer Clinic (F.B.L.H. L.E.K.) Department of Epidemiology (M.A.R.) and Division of Psychosocial Research and Epidemiology (M.K.S.) the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital Amsterdam Division Laboratories Pharmacy and Biomedical Genetics Department of Genetics University Medical Center Utrecht (M.G.E.M.A.) the Department of Clinical Genetics Erasmus University Medical Center (J.M.C. A.M.W.O.) and the Department of Medical Oncology Family Cancer Clinic Erasmus MC Cancer Institute (B.A.M.H.-G. A. Hollestelle M.J.H.) Rotterdam the Department of Clinical Genetics Maastricht University Medical Center Maastricht (E.B.G.G.) the Departments of Human Genetics (I.M.M.L. M.P.G.V. P.D.) Clinical Genetics (C.J.A.) and Pathology (P.D.) Leiden University Medical Center Leiden the Department of Human Genetics Radboud University Medical Center Nijmegen (A.R.M.) and the Department of Genetics University Medical Center Groningen University of Groningen Groningen (J.C.O.) - all in the Netherlands the Cancer Genetics and Comparative Genomics Branch National Human Genome Research Institute (B.D.) and the Division of Cancer Epidemiology and Genetics National Cancer Institute (T.A. S.J.C. X.R.Y. M.G.-C.) National Institutes of Health Bethesda MD the Department of Pathology Brigham and Women's Hospital Harvard Medical School (B.D.) and the Department of Nutrition Harvard T.H. Chan School of Public Health (R.M.V.D.) Boston the Departments of Clinical Genetics (K.A.) Oncology (C. Blomqvist) and Obstetrics and Gynecology (H.N. M. Suvanto) Helsinki University Hospital University of Helsinki Helsinki and the Unit of Clinical Oncology Kuopio University Hospital (P. Auvinen) the Institute of Clinical Medicine Oncology (P. Auvinen) the Translational Cancer Research Area (J.M.H. V.-M.K. A. Mannermaa) and the Institute of Clinical Medicine Pathology and Forensic Medicine (J.M.H. V.-M.K. A. Mannermaa) University of Eastern Finland and the Biobank of Eastern Finland Kuopio University Hospital (V.-M.K. A. Mannermaa) Kuopio - both in Finland the N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus (N.N.A. N.V.B.) the Department of Gynecology and Obstetrics and Institute of Clinical Molecular Biology University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel (N.A.) the Institute of Medical Biometry and Epidemiology (H. Becher) and Cancer Epidemiology Group (T.M. J.C.-C.) University Cancer Center Hamburg University Medical Center Hamburg-Eppendorf Hamburg the Department of Gynecology and Obstetrics (M.W.B. P.A.F. L.H.) and Institute of Human Genetics (A.B.E.) University Hospital Erlangen Friedrich-Alexander University Erlangen-Nuremberg Comprehensive Cancer Center Erlangen-European Metropolitan Region of Nuremberg Erlangen the Division of Cancer Epidemiology (S.B. A. Jung P.M.K. J.C.-C.) Molecular Epidemiology Group C080 (B. Burwinkel H.S.) Division of Pediatric Neurooncology (A.F.) and Molecular Genetics of Breast Cancer (U.H. M.M. M.U.R. D.T.) German Cancer Research Center Molecular Biology of Breast Cancer University Women's Clinic Heidelberg University of Heidelberg (B. Burwinkel A.S. H.S.) Hopp Children's Cancer Center (A.F.) Faculty of Medicine University of Heidelberg (P.M.K.) and National Center for Tumor Diseases University Hospital and German Cancer Research Center (A.S. C.S.) Heidelberg the Department of Radiation Oncology (N.V.B. M. Bremer H.C.) and the Gynecology Research Unit (N.V.B. T.D. P. Hillemanns T.-W.P.-S. P.S.) Hannover Medical School Hannover the Institute of Human Genetics University of Münster Münster (N.B.-M.) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology Stuttgart (H. Brauch W.-Y.L.) iFIT-Cluster of Excellence University of Tübingen and the German Cancer Consortium German Cancer Research Center Partner Site Tübingen (H. Brauch) and the University of Tübingen (W.-Y.L.) Tübingen Institute for Prevention and Occupational Medicine of the German Social Accident Insurance Institute of the Ruhr University Bochum Bochum (T.B.) Institute for Medical Informatics Statistics and Epidemiology University of Leipzig Leipzig (C.E.) Center for Hereditary Breast and Ovarian Cancer (E.H. R.K.S.) and Center for Integrated Oncology (E.H. R.K.S.) Faculty of Medicine and University Hospital Cologne University of Cologne Cologne the Department of Internal Medicine Evangelische Kliniken Bonn Johanniter Krankenhaus Bonn (Y.-D.K.) the Department of Gynecology and Obstetrics University of Munich Campus Großhadern Munich (A. Meindl) and the Institute of Pathology Städtisches Klinikum Karlsruhe Karlsruhe (T.R.) - all in Germany the Gynecological Cancer Registry Centre Georges-François Leclerc Dijon (P. Arveux) and the Center for Research in Epidemiology and Population Health Team Exposome and Heredity INSERM University Paris-Saclay Villejuif (E.C.-D. P.G. T. Truong) - both in France the Institute of Biochemistry and Genetics Ufa Federal Research Center of the Russian Academy of Sciences (M. Bermisheva E.K.) the Department of Genetics and Fundamental Medicine Bashkir State University (E.K. D.P. Y.V.) and the Ufa Research Institute of Occupational Health and Human Ecology (Y.V.) Ufa Russia the Department of Genetics and Pathology (K.B. A. Jakubowska J. Lubiński K.P.) and the Independent Laboratory of Molecular Biology and Genetic Diagnostics (A. Jakubowska) Pomeranian Medical University Szczecin Poland the Copenhagen General Population Study the Department of Clinical Biochemistry (S.E.B. B.G.N.) and the Department of Breast Surgery (H.F.) Herlev and Gentofte Hospital Copenhagen University Hospital Herlev and the Faculty of Health and Medical Sciences University of Copenhagen Copenhagen (S.E.B. B.G.N.) - both in Denmark the Division of Cancer Prevention and Genetics European Institute of Oncology Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) (B. Bonanni) the Unit of Medical Genetics Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori di Milano (S. Manoukian) the Genome Diagnostics Program FIRC Institute of Molecular Oncology (P.P.) and the Unit of Molecular Bases of Genetic Risk and Genetic Testing Department of Research Fondazione IRCCS Istituto Nazionale dei Tumori (P.R.) Milan the Department of Cancer Genetics Institute for Cancer Research Oslo University Hospital-Radiumhospitalet (A.-L.B.-D. G.I.G.A. V.N.K.) and the Institute of Clinical Medicine Faculty of Medicine University of Oslo (A.-L.B.-D. V.N.K.) Oslo Medical Faculty Universidad de La Sabana (I.B.) and the Clinical Epidemiology and Biostatistics Department (F.G.) and Institute of Human Genetics (D.T.) Pontificia Universidad Javeriana Bogota Colombia the Department of Internal Medicine and Huntsman Cancer Institute University of Utah (N.J.C. M.J.M. J.A.W.) and the Intermountain Healthcare Biorepository and Department of Pathology Intermountain Healthcare (M.H.C.) Salt Lake City the David Geffen School of Medicine Department of Medicine Division of Hematology and Oncology University of California Los Angeles (P.A.F.) and Moores Cancer Center (M.G.-D. M.E.M.) and the Department of Family Medicine and Public Health (M.E.M.) University of California San Diego La Jolla the Departments of Medical Oncology (V.G. D.M.) and Pathology (M.T.) University Hospital of Heraklion Heraklion and the Department of Oncology University Hospital of Larissa Larissa (E.S.) - both in Greece the Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital (G.G. I.L.A.) the Departments of Laboratory Medicine and Pathobiology (A.M.M.) and Molecular Genetics (I.L.A.) University of Toronto and the Laboratory Medicine Program University Health Network (A.M.M.) Toronto and the Genomics Center Centre Hospitalier Universitaire de Québec-Université Laval Research Center Québec City QC (J.S.) - both in Canada the Department of Electron Microscopy and Molecular Pathology (A. Hadjisavvas K.K. M.A.L.) the Cyprus School of Molecular Medicine (A. Hadjisavvas K.K. M.A.L. K. Michailidou) and the Biostatistics Unit (K. Michailidou) Cyprus Institute of Neurology and Genetics Nicosia Cyprus the Saw Swee Hock School of Public Health (M. Hartman R.M.V.D.) and the Department of Medicine Yong Loo Lin School of Medicine (R.M.V.D.) National University of Singapore the Department of Surgery National University Health System (M. Hartman J. Li) and the Human Genetics Division Genome Institute of Singapore (J. Li) Singapore the Department of Mathematical Sciences Faculty of Science and Engineering University of Nottingham Malaysia (W.K.H.) and the Breast Cancer Research Programme Cancer Research Malaysia (W.K.H. P.S.N. S.-Y.Y. S.H.T.) Selangor and the Breast Cancer Research Unit Cancer Research Institute (N.A.M.T.) and the Department of Surgery Faculty of Medicine (N.A.M.T. P.S.N. S.H.T.) University Malaya Kuala Lumpur - both in Malaysia Surgery School of Medicine National University of Ireland Galway (M.J.K. N. Miller) the Department of Surgery Daerim Saint Mary's Hospital (S.-W.K.) the Department of Surgery Ulsan University College of Medicine and Asan Medical Center (J.W.L.) the Department of Surgery Soonchunhyang University College of Medicine and Soonchunhyang University Hospital (M.H.L.) Integrated Major in Innovative Medical Science Seoul National University College of Medicine (S.K.P.) and the Cancer Research Institute Seoul National University (S.K.P.) Seoul South Korea the Department of Basic Sciences Shaukat Khanum Memorial Cancer Hospital and Research Center Lahore Pakistan (M.U.R.) and the National Cancer Institute Ministry of Public Health Nonthaburi Thailand (S.T.).
出 版 物：《四川生理科学杂志》 (Sichuan Journal of Physiological Sciences)
年 卷 期：2021年第43卷第1期
页 面：7-7页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：B-CAST European Union Horizon 2020 research and innovation programs BRIDGES Wellcome Trust, WT, (v203477/Z/16/Z) Horizon 2020 Framework Programme, H2020, (633784, 634935) Cancer Research UK, CRUK, (C1287/A16563)
摘 要：Background:Genetic testing for breast cancer susceptibility is widely used,but for many genes,evidence of an association with breast cancer is weak,underlying risk estimates are imprecise,and reliable subtype-specific risk estimates are ***:We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 *** separate analyses for protein-truncating variants and rare missense variants in these genes,we estimated odds ratios for breast cancer overall and tumor *** evaluated missense-variant associations according to domain and classification of pathogenicity.
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