Estimating tumor mutational burden across multiple cancer types using whole-exome sequencing.

ABSTRACT:

Background

Tumor mutational burden (TMB) is emerging as a promising biomarker in immune checkpoint inhibitor (ICI) therapy. Despite whole-exome sequencing (WES) being the gold standard for quantifying TMB, TMB is determined by selected targeted panels in most cases, and WES-derived TMB data are lacking due to the greater cost and complexity. Determining TMB thresholds is another issue that needs attention.

Methods

A total of 309 patients who had received ICI therapy, representing five cancers (listed in "Results"), were recruited. Among them, 269 patients were evaluable for survival analysis. Tumor and matched blood samples from the patients were analyzed using WES and somatic mutations were determined. TMB is defined as the total number of somatic nonsynonymous mutations in

SUBMITTER: Zhou C 

PROVIDER: S-EPMC8506705 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature