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Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics.

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第一作者： Astrid,Eijkelenboom

第一单位： Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.

作者： Astrid,Eijkelenboom ^[1] ; Bastiaan B J,Tops ^[2] ; Anke,van den Berg ^[3] ; Adrianus J C,van den Brule ^[4] ; Winand N M,Dinjens ^[5] ; Hendrikus J,Dubbink ^[5] ; Arja,Ter Elst ^[3] ; Willemina R R,Geurts-Giele ^[5] ; Patricia J T A,Groenen ^[1] ; Floris H,Groenendijk ^[5] ; Daniëlle A M,Heideman ^[6] ; Manon M H,Huibers ^[7] ; Cornelis J J,Huijsmans ^[4] ; Judith W M,Jeuken ^[8] ; Léon C,van Kempen ^[3] ; Esther,Korpershoek ^[5] ; Leonie I,Kroeze ^[1] ; Wendy W J,de Leng ^[7] ; Carel J M,van Noesel ^[9] ; Ernst-Jan M,Speel ^[10] ; Maartje J,Vogel ^[11] ; Tom,van Wezel ^[12] ; Petra M,Nederlof ^[11] ; Ed,Schuuring ^[3] ; Marjolijn J L,Ligtenberg ^[13]

作者单位： Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands. ^[1] Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. ^[2] Department of Pathology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. ^[3] Pathology-DNA, Location Jeroen Bosch Hospital, Den-Bosch, The Netherlands. ^[4] Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[5] Department of Pathology, Amsterdam UMC, Vrije Universiteit Amsterdam, Pathology, Cancer Center Amsterdam, Amsterdam, The Netherlands. ^[6] Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands. ^[7] Department of Pathology, PAMM, Eindhoven, The Netherlands. ^[8] Department of Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. ^[9] Department of Pathology, Maastricht University Medical Center, Maastricht, The Netherlands. ^[10] Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands. ^[11] Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. ^[12] Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands. Marjolijn.Ligtenberg@radboudumc.nl.;Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands. Marjolijn.Ligtenberg@radboudumc.nl. ^[13]

关键词 Amplification Copy number gain Molecular pathology NGS Routine diagnostics Targeted therapy