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Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology

Precision oncology offers new cancer treatment options, yet sequencing methods vary in type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and transcriptome sequencing (TS) with broad panel sequencing by resequencing the same tumor DNA and RNA as well as normal tissue DNA f...

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Main Authors: Kerle, Irina Anja (Author) , Gross, Thomas (Author) , Kögler, Anja (Author) , Arnold, Jonas S. (Author) , Werner, Maximilian (Author) , Eckardt, Jan-Niklas (Author) , Möhrmann, Elena E. (Author) , Arlt, Marie (Author) , Hutter, Barbara (Author) , Hüllein, Jennifer (Author) , Richter, Daniela (Author) , Schneider, Martin M. K. (Author) , Hlevnjak, Mario (Author) , Möhrmann, Lino (Author) , Hanf, Dorothea (Author) , Heilig, Christoph E. (Author) , Kreutzfeldt, Simon (Author) , Teleanu, Maria-Veronica (Author) , Schröck, Evelin (Author) , Hübschmann, Daniel (Author) , Horak, Peter (Author) , Heining, Christoph (Author) , Fröhling, Stefan (Author) , Glimm, Hanno (Author)
Format: Article (Journal)
Language:English
Published: 10 January 2025
In: npj precision oncology
Year: 2025, Volume: 9, Issue: 1, Pages: 1-10
ISSN:2397-768X
DOI:10.1038/s41698-024-00788-3
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41698-024-00788-3
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41698-024-00788-3
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Author Notes:Irina A. Kerle, Thomas Gross, Anja Kögler, Jonas S. Arnold, Maximilian Werner, Jan-Niklas Eckardt, Elena E. Möhrmann, Marie Arlt, Barbara Hutter, Jennifer Hüllein, Daniela Richter, Martin M. K. Schneider, Mario Hlevnjak, Lino Möhrmann, Dorothea Hanf, Christoph E. Heilig, Simon Kreutzfeldt, Maria-Veronica Teleanu, Evelin Schröck, Daniel Hübschmann, Peter Horak, Christoph Heining, Stefan Fröhling & Hanno Glimm
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Summary:Precision oncology offers new cancer treatment options, yet sequencing methods vary in type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and transcriptome sequencing (TS) with broad panel sequencing by resequencing the same tumor DNA and RNA as well as normal tissue DNA for germline assessment, from 20 patients with rare or advanced tumors, who were originally sequenced by WES/WGS ± TS within the DKFZ/NCT/DKTK MASTER program from 2015 to 2020. Molecular analyses resulted in a median number of 2.5 (gene panel) to 3.5 (WES/WGS ± TS) treatment recommendations per patient. Our results showed that approximately half of the therapy recommendations (TRs) of both sequencing programs were identical, while approximately one-third of the TRs in WES/WGS ± TS relied on biomarkers not covered by the panel. Eight of 10 molecularly informed therapy implementations were supported by the panel, the remaining two were based on biomarkers absent from the panel, highlighting the potential additional clinical benefit of WGS and TS.
Item Description:Gesehen am 26.09.2025
Physical Description:Online Resource
ISSN:2397-768X
DOI:10.1038/s41698-024-00788-3

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