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 . Second, the treatment regimens are expensive . Third, there are potential severe side effects associated with these therapies .
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 .
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