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Detection of clinically relevant variants in the <i>TP53</i> gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

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作者: Sarka,Pavlova [1] ; Jitka,Malcikova [1] ; Lenka,Radova [2] ; Silvia,Bonfiglio [3] ; Jack B,Cowland [4] ; Christian,Brieghel [5] ; Mette K,Andersen [4] ; Maria,Karypidou [6] ; Bella,Biderman [7] ; Michael,Doubek [1] ; Gregory,Lazarian [8] ; Inmaculada,Rapado [9] ; Matthijs,Vynck [10] ; Naomi A,Porret [11] ; Martin,Andres [11] ; Dina,Rosenberg [12] ; Dvora,Sahar [12] ; Carolina,Martínez-Laperche [13] ; Ismael,Buño [14] ; Andrew,Hindley [15] ; David,Donaldson [15] ; Julio B,Sánchez [16] ; José A,García-Marco [16] ; Alicia,Serrano-Alcalá [17] ; Blanca,Ferrer-Lores [17] ; Concepción,Fernández-Rodriguez [18] ; Beatriz,Bellosillo [18] ; Stephan,Stilgenbauer [19] ; Eugen,Tausch [19] ; Hero,Nikdin [20] ; Fiona,Quinn [21] ; Emer,Atkinson [21] ; Lisette,van de Corput [22] ; Cafer,Yildiz [22] ; Cristina,Bilbao-Sieyro [23] ; Yanira,Florido [23] ; Christian,Thiede [24] ; Caroline,Schuster [24] ; Anastazja,Stoj [25] ; Sylwia,Czekalska [25] ; Anastasia,Chatzidimitriou [6] ; Stamatia,Laidou [6] ; Audrey,Bidet [26] ; Charles,Dussiau [26] ; Friedel,Nollet [10] ; Giovanna,Piras [27] ; Maria,Monne [27] ; Svetlana,Smirnova [7] ; Eugene,Nikitin [28] ; Ivan,Sloma [29] ; Alexis,Claudel [29] ; Laetitia,Largeaud [30] ; Loïc,Ysebaert [30] ; Peter J M,Valk [31] ; Amy,Christian [32] ; Renata,Walewska [32] ; David,Oscier [32] ; Marta,Sebastião [33] ; Maria Gomes,da Silva [34] ; Piero,Galieni [35] ; Mario,Angelini [35] ; Davide,Rossi [36] ; Valeria,Spina [37] ; Sónia,Matos [38] ; Vânia,Martins [38] ; Tomasz,Stokłosa [39] ; Monika,Pepek [39] ; Panagiotis,Baliakas [40] ; Rafa,Andreu [41] ; Irene,Luna [41] ; Tiina,Kahre [42] ; Ülle,Murumets [43] ; Tereza,Pikousova [2] ; Terezia,Kurucova [2] ; Sophie,Laird [44] ; Daniel,Ward [44] ; Miguel,Alcoceba [45] ; Ana,Balanzategui [45] ; Lydia,Scarfo [46] ; Francesca,Gandini [46] ; Ettore,Zapparoli [47] ; Adoración,Blanco [48] ; Pau,Abrisqueta [48] ; Ana E,Rodríguez-Vicente [49] ; Rocío,Benito [50] ; Clotilde,Bravetti [51] ; Frédéric,Davi [51] ; Paula,Gameiro [33] ; Joaquin,Martinez-Lopez [9] ; Bárbara,Tazón-Vega [48] ; Fanny,Baran-Marszak [8] ; Zadie,Davis [32] ; Mark,Catherwood [15] ; Andrey,Sudarikov [7] ; Richard,Rosenquist [20] ; Carsten U,Niemann [5] ; Kostas,Stamatopoulos [6] ; Paolo,Ghia [46] ; Sarka,Pospisilova [1]
作者单位: Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty Masaryk University Brno Czech Republic.;Centre for Molecular Medicine, Central European Institute of Technology (CEITEC) Masaryk University Brno Czech Republic. [1] Centre for Molecular Medicine, Central European Institute of Technology (CEITEC) Masaryk University Brno Czech Republic. [2] B-Cell Neoplasia Unit and Strategic Research Program on CLL IRCCS Ospedale San Raffaele Milan Italy.;Center for Omics Sciences IRCCS Ospedale San Raffaele Milan Italy. [3] Department of Clinical Genetics, Centre of Diagnostic Investigations Copenhagen University Hospital - Rigshospitalet Copenhagen Denmark. [4] Department of Hematology Copenhagen University Hospital - Rigshospitalet Copenhagen Denmark. [5] Institute of Applied Biosciences Centre for Research and Technology Hellas Thessaloniki Greece. [6] National Medical Research Center for Hematology Moscow Russia. [7] Hematology laboratory HUPSSD, Hôpital Avicenne, APHP Bobigny France.;INSERM U978 Université Sorbonne Paris Nord Bobigny France. [8] Department of Hematology Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Complutense University, CNIO, CIBERONC Madrid Spain. [9] Department of Laboratory Medicine AZ Sint-Jan Hospital Bruges Belgium. [10] Department of Hematology and Central Hematology Laboratory, Inselspital Bern University Hospital, University of Bern Bern Switzerland. [11] Hematology Laboratory Rambam Medical Center Haifa Israel. [12] Department of Hematology Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM) Madrid Spain. [13] Department of Hematology Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM) Madrid Spain.;Genomics Unit Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM) Madrid Spain.;Department of Cell Biology, Medical School Complutense University of Madrid Madrid Spain. [14] Haematology Department Belfast City Hospital Belfast UK. [15] Molecular Cytogenetics Unit, Hematology Department Hospital Universitario Puerta de Hierro-Majadahonda Madrid Spain. [16] Hematology Department Hospital Clínico Universitario-INCLIVA Valencia Spain. [17] Pathology Department Hospital del Mar, IMIM (Hospital del Mar Medical Research Institute) Barcelona Spain. [18] Department of Internal Medicine III Ulm University Ulm Germany. [19] Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden.;Department of Clinical Genetics and Genomics Karolinska University Hospital Stockholm Sweden. [20] Cancer Molecular Diagnostics Department Centre for Laboratory Medicine and Molecular Pathology, St. James Hospital Dublin Ireland. [21] Central Diagnostic Laboratory University Medical Center Utrecht Utrecht The Netherlands. [22] Servicio de Hematología Hospital Universitario de Gran Canaria Dr. Negrín, Departamento de Morfología de La Universidad de Las Palmas de Gran Canaria Gran Canaria Spain. [23] AgenDix GmbH Dresden Germany. [24] Department of Hematological Diagnostics and Genetics University Hospital in Krakow Krakow Poland. [25] Laboratoire d'Hématologie Biologique CHU Bordeaux Bordeaux France. [26] Laboratorio specialistico UOC ematologia Ospedale San Francesco ASL Nuoro Italy. [27] Outpatient department of Hematology, Oncology and Chemotherapy, Botkin Hospital, and Department of Hematology and Transfusiology Russian Medical Academy of Continuous Professional Education Moscow Russia. [28] Univ Paris Est Creteil, INSERM, IMRB Creteil France.;Departement d'Hematologie et Immunologie Biologique AP-HP, Hopital Henri Mondor Creteil France. [29] Institut Universitaire de Cancérologie de Toulouse Toulouse France. [30] Department of Hematology, Erasmus MC Cancer Institute University Medical Center Rotterdam Rotterdam The Netherlands. [31] Molecular Pathology University Hospitals Dorset Bournemouth UK. [32] Laboratório Hemato-Oncologia Instituto Português de Oncologia de Lisboa Lisbon Portugal. [33] Serviço de Hematologia Instituto Português de Oncologia de Lisboa Lisbon Portugal. [34] UOC Hematology Mazzoni Hospital-Ascoli Piceno Ascoli Piceno Italy. [35] Institute of Oncology Research and Oncology Institute of Southern Switzerland Bellinzona Switzerland. [36] Laboratorio di Diagnostica Molecolare, Servizio di Genetica Medica EOLAB Ente Ospedaliero Cantonale Bellinzona Switzerland. [37] Genomed-Diagnósticos de Medicina Molecular iMM - Instituto de Medicina Molecular, Faculdade de Medicina Lisboa Portugal. [38] Department of Tumor Biology and Genetics Medical University of Warsaw Warsaw Poland. [39] Department of Immunology, Genetics and Pathology Uppsala University Uppsala Sweden. [40] Hematology Department Hospital Universitari i Politècnic la Fe Valencia Spain. [41] Department of Laboratory Genetics, Genetics and Personalized Clinic Tartu University Hospital Tartu Estonia.;Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine Tartu University Tartu Estonia. [42] Department of Laboratory Genetics, Genetics and Personalized Clinic Tartu University Hospital Tartu Estonia. [43] Wessex Genomics Laboratory Service Salisbury NHS Foundation Trust Salisbury UK. [44] Department of Hematology University Hospital of Salamanca (HUS/IBSAL), CIBERONC and Cancer Research Center of Salamanca-IBMCC (USAL-CSIC) Salamanca Spain. [45] B-Cell Neoplasia Unit and Strategic Research Program on CLL IRCCS Ospedale San Raffaele Milan Italy.;Medical School Università Vita-Salute San Raffaele Milan Italy. [46] Center for Omics Sciences IRCCS Ospedale San Raffaele Milan Italy. [47] Department of Hematology Hospital Universitari Vall d'Hebron (HUVH) Barcelona Spain.;Experimental Hematology, Vall d'Hebron Institute of Oncology (VHIO) Barcelona Spain.;Department of Medicine Universitat Autònoma de Barcelona (UAB) Barcelona Spain. [48] Oncohematology Research Group, Institute of Biomedical Research of Salamanca (IBSAL) Cancer Research Centre (IBMCC, USAL-CSIC) and University of Salamanca Salamanca Spain.;Department of Human Anatomy and Histology, Faculty of Medicine University of Salamanca Salamanca Spain. [49] Oncohematology Research Group, Institute of Biomedical Research of Salamanca (IBSAL) Cancer Research Centre (IBMCC, USAL-CSIC) and University of Salamanca Salamanca Spain. [50] Department of Biological Hematology Sorbonne Université, AP-HP, Pitié-Salpêtrière Hospital Paris France. [51]
DOI 10.1002/hem3.70065
PMID 39840379
发布时间 2025-01-23
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