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.
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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