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Assessment of Two Commercial Comprehensive Gene Panels for Personalized Cancer Treatment

Anine Larsen Ottestad, Mo Huang, Elisabeth Fritzke Emdal, Robin Mjelle, Veronica Skarpeteig, Hong Dai

2022Journal of Personalized Medicine10 citationsDOIOpen Access PDF

Abstract

(1) Background: Analysis of tumor DNA by next-generation sequencing (NGS) plays various roles in the classification and management of cancer. This study aimed to assess the performance of two similar and large, comprehensive gene panels with a focus on clinically relevant variant detection and tumor mutation burden (TMB) assessment; (2) Methods: DNA from 19 diagnostic small cell lung cancer biopsies and an AcroMetrix™ assessment sample with >500 mutations were sequenced using Oncomine™ Comprehensive Assay Plus (OCAP) on the Ion Torrent platform and TruSight Oncology 500 Assay (TSO500) on the Illumina platform; (3) Results: OCAP and TSO500 achieved comparable NGS quality, such as mean read coverage and mean coverage uniformity. A total of 100% of the variants in the diagnostic samples and 80% of the variants in the AcroMetrix™ assessment sample were detected by both panels, and the panels reported highly similar variant allele frequency. A proportion of 14/19 (74%) samples were classified in the same TMB category; (4) Conclusions: Comparable results were obtained using OCAP and TSO500, suggesting that both panels could be applied to screen patients for enrolment in personalized cancer treatment trials.

Topics & Concepts

CancerMedicinePersonalized medicineBioinformaticsComputational biologyInternal medicineBiologyCancer Genomics and DiagnosticsCRISPR and Genetic EngineeringBRCA gene mutations in cancer
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