Targeted sequencing focused on cancer-related genes provides comprehensive assessment of tumor mutational burden, with results comparable to whole-exome sequencing.
Cancer immunotherapy is an emerging field that uses the immune system to identify, attack, and ideally destroy neoplasms. Unfortunately, this novel therapeutic approach elicits a response in only a fraction of patients, and there is a great need to differentiate responders from nonresponders.1-4 The reasons for this are threefold. First, current biomarker technologies do a poor job of stratifying these subjects.1 Second, the treatment regimens are expensive.5 Third, there are potential severe side effects associated with these therapies.6
Tumor mutational burden (TMB), or the number of mutations within the coding region of a tumor genome, has been shown to correlate with response to immunotherapy treatment.7-9 Although TMB has historically been assessed by whole-exome sequencing (WES),7-9 two recent studies have demonstrated that TMB can be effectively estimated using targeted sequencing panels,10,11 thereby providing methods that may be more efficient and compatible with current cancer testing paradigms.12
TruSight Tumor 170 is a comprehensive next-generation sequencing (NGS) assay targeting the full coding regions of 170 genes with known associations to solid tumors.13 Using robust chemistry for use with formalin-fixed, paraffin-embedded (FFPE) samples, TruSight Tumor 170 analyzes DNA and RNA from the same sample, interrogating single nucleotide variants, indels, amplifications, splice variants, and fusions in a single sequencing run.
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