Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.
第一作者:
Shuai,Li
第一单位:
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.;Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.;Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, United Kingdom.
作者:
Shuai,Li [1]
;
Laura,Madanat-Harjuoja [2]
;
Goska,Leslie [3]
;
Daniel R,Barnes [3]
;
Manjeet K,Bolla [3]
;
Joe,Dennis [3]
;
Michael T,Parsons [4]
;
Paraskevi,Apostolou [5]
;
Norbert,Arnold [6]
;
Kristin,Bosse [7]
;
EMBRACE Collaborators
[8]
;
Jackie,Cook [9]
;
Christoph,Engel [10]
;
D Gareth,Evans [5]
;
Florentia,Fostira [11]
;
Megan N,Frone [12]
;
Andrea,Gehrig [11]
;
Mark H,Greene [13]
;
Karl,Hackmann [14]
;
Eric,Hahnen [15]
;
Nadia,Harbeck [16]
;
Jan,Hauke [17]
;
Julia,Hentschel [18]
;
Judit,Horvath [19]
;
Louise,Izatt [20]
;
Marion,Kiechle [5]
;
Irene,Konstantopoulou [21]
;
Fiona,Lalloo [22]
;
Joanne,Ngeow [23]
;
Dieter,Niederacher [24]
;
Julia,Ritter [25]
;
Marta,Santamariña [16]
;
Rita K,Schmutzler [26]
;
Claire,Searle [27]
;
Christian,Sutter [28]
;
Marc,Tischkowitz [19]
;
Vishakha,Tripathi [25]
;
Ana,Vega [29]
;
Hannah,Wallaschek [30]
;
Shan,Wang-Gohrke [14]
;
Barbara,Wappenschmidt [31]
;
Bernhard H F,Weber [5]
;
Drakoulis,Yannoukakos [3]
;
Emily,Zhao [32]
;
Douglas F,Easton [3]
;
Antonis C,Antoniou [33]
;
Georgia,Chenevix-Trench [34]
;
Timothy R,Rebbeck [35]
;
Lisa R,Diller
作者单位:
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.;Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.;Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, United Kingdom.
[1]
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00029, Finland.;Finnish Cancer Registry, Helsinki 00130, Finland.
[2]
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, United Kingdom.
[3]
Public Health Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
[4]
Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens 15310, Greece.
[5]
Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, Kiel 24105, Germany.;Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, Kiel 24118, Germany.
[6]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72074, Germany.
[7]
Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, United Kingdom.
[8]
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig 04107, Germany.;LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig 04103, Germany.
[9]
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 M13 9WL, United Kingdom.;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 M13 9WL, United Kingdom.
[10]
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20850-9772, United States.
[11]
Department of Human Genetics, University Würzburg, Würzburg 97074, Germany.
[12]
Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Dresden, Dresden, TU 01307, Germany.
[13]
Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.;Center for Integrated Oncology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.
[14]
Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich 81377, Germany.
[15]
Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.;Center for Integrated Oncology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.;Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
[16]
Institute of Human Genetics, University Hospital Leipzig, Leipzig 04103, Germany.
[17]
Institute of Human Genetics, University of Münster, Münster 48149, Germany.
[18]
Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
[19]
Department of Gynaecology and Obstetrics, University Hospital Klinikum rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich 80333, Germany.
[20]
Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, United Kingdom.
[21]
Lee Kong Chian School of Medicine, Nanyang Technological University, 308232, Singapore.;Cancer Genetics Service, National Cancer Centre, 169610, Singapore.
[22]
Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf 40225, Germany.
[23]
Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin 13353, Germany.
[24]
Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain.;Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela 15706, Spain.;Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela 15706, Spain.
[25]
Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, United Kingdom.
[26]
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.
[27]
Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge CB2 0QQ, United Kingdom.;Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC H4A 3J1, Canada.
[28]
Institute of Human Genetics, Hannover Medical School, Hannover 30625, Germany.
[29]
Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm 89075, Germany.
[30]
Institute of Human Genetics, University Regensburg, Regensburg 93053, Germany.;Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg 93053, Germany.
[31]
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, United Kingdom.;Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, United Kingdom.
[32]
Cancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
[33]
Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States.;Dana-Farber Cancer Institute, Boston, MA 02115, United States.
[34]
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, United States.;Department of Pediatrics, Harvard Medical School, Boston, MA 02115, United States.
[35]
医学主题词
人类(Humans);女(雌)性(Female);成年人(Adult);青少年(Adolescent);青年人(Young Adult);疾病遗传易感性(Genetic Predisposition to Disease);肿瘤(Neoplasms);BRCA2蛋白质(BRCA2 Protein);BRCA1蛋白质(BRCA1 Protein);儿童(Child);杂合子(Heterozygote);男(雄)性(Male);卵巢肿瘤(Ovarian Neoplasms);基因检测(Genetic Testing);乳腺肿瘤(Breast Neoplasms);系谱(Pedigree);基因, BRCA2(Genes, BRCA2);危险因素(Risk Factors)
DOI
10.1093/jnci/djae306
PMID
39585318
发布时间
2025-11-26
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Journal of the National Cancer Institute
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