换一批Analysis of <i>BRCA1</i>, <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
第一作者：
Sharon E,Johnatty
第一单位：
Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.
作者：
Sharon E,Johnatty [1]
;
Emma,Tudini [2]
;
Michael T,Parsons [2]
;
Kyriaki,Michailidou [3]
;
Maria,Zanti [3]
;
Daffodil,Canson [1]
;
Aimee L,Davidson [1]
;
Tamar,Berger [4]
;
Rasim Ozgur,Rosti [4]
;
Christian P,Kratz [5]
;
Reinhard,Kalb [6]
;
Lisa J,McReynolds [7]
;
Neelam,Giri [7]
;
Marcy,Richardson [8]
;
Tina,Pesaran [8]
;
Jordi,Surrallés [9]
;
Roser,Pujol [9]
;
Babu Rao,Vundinti [10]
;
Merin,George [10]
;
Kara N,Maxwell [11]
;
Kate,Nathanson [12]
;
Susan,Domchek [11]
;
Moisés Ó,Fiesco-Roa [13]
;
Sara,Frias [14]
;
Benilde,Garcia-de-Teresa [15]
;
Marjolijn,Jongmans [16]
;
Seema,Lalani [17]
;
Merel,Maiburg [18]
;
Katrina,Prescott [19]
;
Rachel,Robinson [19]
;
Sulekha,Rajagopalan [20]
;
Lot Snijders,Blok [21]
;
Suzanna E L,Temple [22]
;
Kathy,Tucker [23]
;
Arleen D,Auerbach [24]
;
Maria I,Cancio [25]
;
Jennifer A,Kennedy [26]
;
Margaret L,MacMillan [27]
;
Rebecca,Tryon [28]
;
John E,Wagner [27]
;
Michael,Walsh [26]
;
Nicholas J,Boddicker [29]
;
Chunling,Hu [30]
;
Jeffrey N,Weitzel [31]
;
Alexander J M,Dingemans [21]
;
Johanna,Hadler [1]
;
Nitsan,Rotenberg [1]
;
Lobna,Ramadane-Morchadi [32]
;
Miguel,de la Hoya [32]
;
Paul,James [33]
;
Thomas,Van Overeem Hansen [34]
;
Maaike P G,Vreeswijk [35]
;
Logan C,Walker [36]
;
Shyam K,Sharan [37]
;
Douglas F,Easton [38]
;
Fergus,Couch [30]
;
Agata,Smogorzewska [4]
;
Adam,Nelson [39]
;
Joanne,Ngeow [40]
;
Marc,Tischkowitz [41]
;
Encarnacion,Gomez-Garcia [42]
;
Amanda B,Spurdle [43]
作者单位：
Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.
[1]
Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.;These authors contributed equally.
[2]
Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.;These authors contributed equally.
[3]
Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.
[4]
Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
[5]
Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany.
[6]
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
[7]
Ambry Genetics, Aliso Viejo, California, USA.
[8]
Institut de Recerca Sant Pau (IR Sant Pau); Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain.
[9]
ICMR-National Institute of Immunohaematology, Mumbai, India.
[10]
Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.;Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
[11]
Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.;Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
[12]
Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico.;Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM, Mexico City, Mexico.
[13]
Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico.;Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico.
[14]
Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico.
[15]
Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
[16]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
[17]
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
[18]
Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
[19]
Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.
[20]
Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
[21]
Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.;School of Women's and Children's Health, University of New South Wales, New South Wales, Australia.
[22]
Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, New South Wales, Australia.;Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
[23]
Human Genetics and Hematology Program, The Rockefeller University, New York, New York, USA.
[24]
Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
[25]
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
[26]
Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
[27]
Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.;Department of Genetics, M Health Fairview, Minneapolis, Minnesota, USA.
[28]
Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, Minnesota, USA.
[29]
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
[30]
University of Kansas Cancer Center, Kansas City, Kansas, USA.
[31]
Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain.
[32]
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
[33]
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.;Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
[34]
Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[35]
Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
[36]
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.
[37]
Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.;Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
[38]
School of Women's and Children's Health, University of New South Wales, New South Wales, Australia.;Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
[39]
Population and Global Health, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore.;Cancer Genetics Service, National Cancer Center, Singapore.
[40]
Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.
[41]
Maastricht University, Maastricht, the Netherlands.
[42]
Population Health Program, QIMR Berghofer, Brisbane, Queensland, Australia.;Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
[43]
DOI
10.1101/2025.05.25.25327887
PMID
40568666
发布时间
2025-12-05
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medRxiv
medRxiv
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