Universität zu Köln

Luesebrink, Jessica, Pieper, Monika, Tillmann, Ramona-Liza, Brockmann, Michael, Schildgen, Oliver ORCID: 0000-0003-4297-9627 and Schildgen, Verena (2018). Pre-clinical validation of a next generation sequencing testing panel. Exp. Mol. Pathol., 104 (3). S. 170 - 175. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1096-0945

Full text not available from this repository.

Abstract

Objective: Next Generation Sequencing (NGS) has become a useful tool for gene mutation testing which is required for targeted therapies. The aim of this study was to validate the GeneRead QIAact Actionable Insights Tumor Panel (Qiagen) on the GeneReader System in a diagnostic laboratory setting. Methods: The GeneRead QIAact Actionable Insights Tumor Panel allows the analysis of 773 variant positions in 12 genes (ALK, BRAF, EGFR, ERBB2, ERBB3, ESR1, KIT, KRAS, NRAS, PDGFRA, PIK3CA and RAF1). For the validation of the panel we used a commercial available multiplex reference standard carrying 11 mutations in defined positions, samples from interlaboratory tests, and FFPE tumor samples from patients which were tested previously for mutations in KRAS, NRAS, BRAF, EGFR, KIT, and/or PDGFRA with pyrosequencing. Results: Among the 122 tested samples, 121 samples (99.2%) were successfully sequenced. The sensitivity and specificity for detecting variants was 100% and results proved to be reproducible and precise. 119 (98.3%) results were concordant to the expected results. The differences between NGS and pyrosequencing observed in two samples were due to a wrong analysis by the pyrosequencing software which did not cover the present mutations. Conclusion: Overall, the GeneRead QIAact Actionable Insights Tumor Panel was specific and sensitive for mutation analysis for targeted therapies and can be incorporated into laboratory diagnostics' daily practice.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Luesebrink, Jessica UNSPECIFIED UNSPECIFIED UNSPECIFIED Pieper, Monika UNSPECIFIED UNSPECIFIED UNSPECIFIED Tillmann, Ramona-Liza UNSPECIFIED UNSPECIFIED UNSPECIFIED Brockmann, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Schildgen, Oliver UNSPECIFIED orcid.org/0000-0003-4297-9627 UNSPECIFIED Schildgen, Verena UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-183334
DOI:	10.1016/j.yexmp.2018.04.001
Journal or Publication Title:	Exp. Mol. Pathol.
Volume:	104
Number:	3
Page Range:	S. 170 - 175
Date:	2018
Publisher:	ACADEMIC PRESS INC ELSEVIER SCIENCE
Place of Publication:	SAN DIEGO
ISSN:	1096-0945
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CELL LUNG-CANCER; EGFR; METAANALYSIS; MUTATION; SUPPORT; AZD9291; PIK3CA; KRAS; BRAF; NGS Multiple languages Pathology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18333