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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

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第一作者: Daniel R,Barnes
第一单位: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
作者: Daniel R,Barnes [1] ; Valentina,Silvestri [2] ; Goska,Leslie [1] ; Lesley,McGuffog [1] ; Joe,Dennis [1] ; Xin,Yang [1] ; Julian,Adlard [3] ; Bjarni A,Agnarsson [4] ; Munaza,Ahmed [5] ; Kristiina,Aittomäki [6] ; Irene L,Andrulis [7] ; Adalgeir,Arason [8] ; Norbert,Arnold [9] ; Bernd,Auber [10] ; Jacopo,Azzollini [11] ; Judith,Balmaña [12] ; Rosa B,Barkardottir [8] ; Daniel,Barrowdale [1] ; Julian,Barwell [13] ; Muriel,Belotti [14] ; Javier,Benitez [15] ; Pascaline,Berthet [16] ; Susanne E,Boonen [17] ; Åke,Borg [18] ; Aniko,Bozsik [19] ; Angela F,Brady [20] ; Paul,Brennan [21] ; Carole,Brewer [22] ; Joan,Brunet [23] ; Agostino,Bucalo [2] ; Saundra S,Buys [24] ; Trinidad,Caldés [25] ; Maria A,Caligo [26] ; Ian,Campbell [27] ; Hayley,Cassingham [28] ; Lise Lotte,Christensen [29] ; Giulia,Cini [30] ; Kathleen B M,Claes [31] ; GEMO Study Collaborators [32] ; EMBRACE Collaborators [33] ; Jackie,Cook [34] ; Anna,Coppa [35] ; Laura,Cortesi [23] ; Giuseppe,Damante [36] ; Esther,Darder [25] ; Rosemarie,Davidson [31] ; Miguel,de la Hoya [31] ; Kim,De Leeneer [23] ; Robin,de Putter [37] ; Jesús,Del Valle [38] ; Orland,Diez [39] ; Yuan Chun,Ding [40] ; Susan M,Domchek [41] ; Alan,Donaldson [42] ; Jacqueline,Eason [43] ; Ros,Eeles [44] ; Christoph,Engel [23] ; D Gareth,Evans [45] ; Lidia,Feliubadaló [46] ; Florentia,Fostira [1] ; Megan,Frone [47] ; Debra,Frost [48] ; David,Gallagher [49] ; Andrea,Gehrig [50] ; Sophie,Giraud [51] ; Gord,Glendon [52] ; Andrew K,Godwin [46] ; David E,Goldgar [53] ; Mark H,Greene [54] ; Helen,Gregory [55] ; Eva,Gross [56] ; Eric,Hahnen [57] ; Ute,Hamann [58] ; Thomas V O,Hansen [59] ; Helen,Hanson [60] ; Julia,Hentschel [61] ; Judit,Horvath [23] ; KConFab Investigators [62] ; HEBON Investigators [63] ; Louise,Izatt [64] ; Angel,Izquierdo [65] ; Paul A,James [66] ; Ramunas,Janavicius [67] ; Uffe Birk,Jensen [17] ; Oskar Th,Johannsson [17] ; Esther M,John [68] ; Gero,Kramer [23] ; Lone,Kroeldrup [69] ; Torben A,Kruse [70] ; Charlotte,Lautrup [71] ; Conxi,Lazaro [11] ; Fabienne,Lesueur [72] ; Adria,Lopez-Fernández [73] ; Phuong L,Mai [74] ; Siranoush,Manoukian [69] ; Zoltan,Matrai [54] ; Laura,Matricardi [73] ; Kara N,Maxwell [75] ; Noura,Mebirouk [76] ; Alfons,Meindl [77] ; Marco,Montagna [78] ; Alvaro N,Monteiro [39] ; Patrick J,Morrison [38] ; Taru A,Muranen [77] ; Alex,Murray [79] ; Katherine L,Nathanson [80] ; Susan L,Neuhausen [19] ; Heli,Nevanlinna [81] ; Tu,Nguyen-Dumont [82] ; Dieter,Niederacher [83] ; Edith,Olah [84] ; Olufunmilayo I,Olopade [11] ; Domenico,Palli [25] ; Michael T,Parsons [85] ; Inge Sokilde,Pedersen [86] ; Bernard,Peissel [87] ; Pedro,Perez-Segura [88] ; Paolo,Peterlongo [78] ; Annabeth H,Petersen [89] ; Pedro,Pinto [90] ; Mary E,Porteous [91] ; Caroline,Pottinger [92] ; Miquel Angel,Pujana [93] ; Paolo,Radice [78] ; Juliane,Ramser [86] ; Johanna,Rantala [94] ; Mark,Robson [95] ; Mark T,Rogers [74] ; Karina,Rønlund [96] ; Andreas,Rump [97] ; Ana María,Sánchez de Abajo [98] ; Payal D,Shah [93] ; Saba,Sharif [38] ; Lucy E,Side [99] ; Christian F,Singer [100] ; Zsofia,Stadler [101] ; Linda,Steele [102] ; Dominique,Stoppa-Lyonnet [23] ; Christian,Sutter [103] ; Yen Yen,Tan [104] ; Manuel R,Teixeira [105] ; Alex,Teulé [106] ; Darcy L,Thull [34] ; Marc,Tischkowitz [107] ; Amanda E,Toland [61] ; Stefania,Tommasi [2] ; Angela,Toss [108] ; Alison H,Trainer [34] ; Vishakha,Tripathi [30] ; Virginia,Valentini [109] ; Christi J,van Asperen [110] ; Marta,Venturelli [111] ; Alessandra,Viel [55] ; Joseph,Vijai [112] ; Lisa,Walker [82] ; Shan,Wang-Gohrke [109] ; Barbara,Wappenschmidt [17] ; Anna,Whaite [113] ; Ines,Zanna [114] ; Kenneth,Offit [115] ; Mads,Thomassen [116] ; Fergus J,Couch [83] ; Rita K,Schmutzler [1] ; Jacques,Simard [2] ; Douglas F,Easton ; Georgia,Chenevix-Trench ; Antonis C,Antoniou ; Laura,Ottini ; Consortium of Investigators of Modifiers of BRCA1 and BRCA2
作者单位: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [1] Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy. [2] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [3] Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.;School of Medicine, University of Iceland, Reykjavik, Iceland. [4] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK. [5] Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. [6] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.;Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [7] Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.;BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland. [8] Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.;Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany. [9] Department of Human Genetics, Hannover Medical School, Hannover, Germany. [10] Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy. [11] Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Hospital Campus, Barcelona, Spain.;Department of Medical Oncology, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain. [12] Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK. [13] Service de Génétique, Institut Curie, Paris, France. [14] Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.;Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. [15] Département de Biopathologie, Centre François Baclesse, Caen, France. [16] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. [17] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [18] Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. [19] North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK. [20] Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK. [21] Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK. [22] Hereditary Cancer Program, Oncobell-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain. [23] Department of Internal Medicine, Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT, USA. [24] Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain. [25] SOD Genetica Molecolare, University Hospital, Pisa, Italy. [26] Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.;Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia. [27] Department of Internal Medicine, Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, OH, USA. [28] Division of Surgical Oncology, National Cancer Centre, Singapore, Singapore. [29] Division of Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy. [30] Centre for Medical Genetics, Ghent University, Gent, Belgium. [31] Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK. [32] Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.;Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy. [33] Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy. [34] Department of Medicine, University of Udine, Udine, Italy. [35] Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK. [36] Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Hospital Campus, Barcelona, Spain.;Area of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain. [37] Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. [38] Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA. [39] Clinical Genetics Department, St Michael's Hospital, Bristol, UK. [40] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK. [41] Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK. [42] Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.;LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany. [43] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.;North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. [44] Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece. [45] Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA. [46] Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire. [47] Department of Human Genetics, University Würzburg, Würzburg, Germany. [48] Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France. [49] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. [50] Department of Pathology and Laboratory Medicine, University of Kansas, Medical Center, Kansas City, KS, USA. [51] Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA. [52] North of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen, UK. [53] Department of Gynecology and Obstetrics, University of Munich, Munich, Germany. [54] Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.;Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. [55] Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. [56] Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [57] Southwest Thames Regional Genetics Service, St George's Hospital, London, UK. [58] Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany. [59] Institute of Human Genetics, University of Münster, Münster, Germany. [60] Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK. [61] Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.;Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia. [62] Faculty of Medicine, Institute of Biomedical Sciences, Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.;State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania. [63] Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark. [64] Department of Oncology, Landspitali University Hospital, Reykjavik, Iceland. [65] Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.;Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA. [66] Department of Urology, Medical University of Vienna, Vienna, Austria. [67] Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.;Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark. [68] Institut Curie, Paris, France.;Mines ParisTech, Fontainebleau, France.;Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France. [69] Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Hospital Campus, Barcelona, Spain. [70] Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. [71] Department of Surgery, National Institute of Oncology, Budapest, Hungary. [72] Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. [73] Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. [74] Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA. [75] Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK. [76] Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. [77] All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK. [78] Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.;Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia. [79] Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany. [80] Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA. [81] Cancer Risk Factors and Life-Style Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy. [82] Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. [83] Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.;Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.;Department of Clinical Medicine, Aalborg University, Aalborg, Denmark. [84] Genome Diagnostics Program, IFOM-the FIRC Institute of Molecular Oncology, Milan, Italy. [85] Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark. [86] Department of Genetics, Portuguese Oncology Institute, Porto, Portugal. [87] South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK. [88] Translational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain. [89] Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy. [90] Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany. [91] Clinical Genetics, Karolinska Institutet, Stockholm, Sweden. [92] Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. [93] Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. [94] Servicio de Análisis Clínicos y Bioquímica Clínica, Complejo Hospitalario Universitario Insular Materno-Infantil de Gran Canaria , Las Palmas de Gran Canaría, Spain. [95] West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, UK. [96] Princess Anne Hospital, Southampton, UK. [97] Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria. [98] Service de Génétique, Institut Curie, Paris, France.;Department of Tumour Biology, INSERM U830, Paris, France.;Université Paris Descartes, Paris, France. [99] Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany. [100] Dept of OB/GYN, Medical University of Vienna, Vienna, Austria. [101] Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.;Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal. [102] Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. [103] Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada.;Department of Medical Genetics, University of Cambridge, Cambridge, UK. [104] Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA. [105] IRCCS Istituto Tumori Giovanni Paolo II, Bari, Italy. [106] Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.;Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia. [107] Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [108] Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.;Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. [109] Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK. [110] Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany. [111] Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK. [112] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. [113] Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.;Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.;Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. [114] Genomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, QC, Canada. [115] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.;Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK. [116]
DOI 10.1093/jnci/djab147
PMID 34320204
发布时间 2025-05-30
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