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Status: Bibliographieeintrag

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Verfasst von:Endris, Volker [VerfasserIn]   i
 Allgäuer, Michael [VerfasserIn]   i
 Rempel, Eugen [VerfasserIn]   i
 Lier, Amelie [VerfasserIn]   i
 Volckmar, Anna-Lena [VerfasserIn]   i
 Winterfeld, Moritz von [VerfasserIn]   i
 Leichsenring, Jonas [VerfasserIn]   i
 Neumann, Olaf [VerfasserIn]   i
 Penzel, Roland [VerfasserIn]   i
 Glimm, Hanno [VerfasserIn]   i
 Fröhling, Stefan [VerfasserIn]   i
 Winter, Hauke [VerfasserIn]   i
 Herth, Felix [VerfasserIn]   i
 Thomas, Michael [VerfasserIn]   i
 Schirmacher, Peter [VerfasserIn]   i
 Budczies, Jan [VerfasserIn]   i
 Stenzinger, Albrecht [VerfasserIn]   i
Titel:Measurement of tumor mutational burden (TMB) in routine molecular diagnostics
Titelzusatz:in silico and real-life analysis of three larger gene panels
Verf.angabe:Volker Endris, Ivo Buchhalter, Michael Allgäuer, Eugen Rempel, Amelie Lier, Anna-Lena Volckmar, Martina Kirchner, Moritz von Winterfeld, Jonas Leichsenring, Olaf Neumann, Roland Penzel, Wilko Weichert, Hanno Glimm, Stefan Fröhling, Hauke Winter, Felix Herth, Michael Thomas, Peter Schirmacher, Jan Budczies and Albrecht Stenzinger
Jahr:2019
Jahr des Originals:2018
Umfang:10 S.
Teil:volume:144
 year:2019
 number:9
 pages:2303-2312
 extent:10
Fussnoten:First published: 17 November 2018 ; Gesehen am 23.05.2019
Titel Quelle:Enthalten in: International journal of cancer
Ort Quelle:Bognor Regis : Wiley-Liss, 1966
Jahr Quelle:2019
Band/Heft Quelle:144(2019), 9, Seite 2303-2312
ISSN Quelle:1097-0215
Abstract:Assessment of Tumor Mutational Burden (TMB) for response stratification of cancer patients treated with immune checkpoint inhibitors is emerging as a new biomarker. Commonly defined as the total number of exonic somatic mutations, TMB approximates the amount of neoantigens that potentially are recognized by the immune system. While whole exome sequencing (WES) is an unbiased approach to quantify TMB, implementation in diagnostics is hampered by tissue availability as well as time and cost constrains. Conversely, panel-based targeted sequencing is nowadays widely used in routine molecular diagnostics, but only very limited data are available on its performance for TMB estimation. Here, we evaluated three commercially available larger gene panels with covered genomic regions of 0.39 Megabase pairs (Mbp), 0.53 Mbp and 1.7 Mbp using i) in silico analysis of TCGA (The Cancer Genome Atlas) data and ii) wet-lab sequencing of a total of 92 formalin-fixed and paraffin-embedded (FFPE) cancer samples grouped in three independent cohorts (non-small cell lung cancer, NSCLC; colorectal cancer, CRC; and mixed cancer types) for which matching WES data were available. We observed a strong correlation of the panel data with WES mutation counts especially for the gene panel >1Mbp. Sensitivity and specificity related to TMB cutpoints for checkpoint inhibitor response in NSCLC determined by wet-lab experiments well reflected the in silico data. Additionally, we highlight potential pitfalls in bioinformatics pipelines and provide recommendations for variant filtering. In summary, our study is a valuable data source for researchers working in the field of immuno-oncology as well as for diagnostic laboratories planning TMB testing.
DOI:doi:10.1002/ijc.32002
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.1002/ijc.32002
 Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.32002
 DOI: https://doi.org/10.1002/ijc.32002
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:mutational load
 NGS
 panel sequencing
 TMB
 tumor mutational burden
K10plus-PPN:1666230936
Verknüpfungen:→ Zeitschrift

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