Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
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]
医学主题词
老年人, 80以上(Aged, 80 and over);BRCA1蛋白质(BRCA1 Protein);BRCA2蛋白质(BRCA2 Protein);乳腺肿瘤(Breast Neoplasms);疾病遗传易感性(Genetic Predisposition to Disease);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);突变(Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);前列腺肿瘤(Prostatic Neoplasms);危险性评估(Risk Assessment);危险因素(Risk Factors)
DOI
10.1093/jnci/djab147
PMID
34320204
发布时间
2025-05-30
- 浏览3
Journal of the National Cancer Institute
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