Designing gene panels for tumor mutational burden estimation: the need to shift from 'correlation' to 'accuracy'.

ABSTRACT: Tumor mutational burden (TMB) assessment is at the forefront in precision medicine. The TMB could represent a biomarker for immune checkpoint inhibitors (ICIs) responses. Whole exome sequencing (WES) is the gold standard to derive the TMB; while targeted next-generation sequencing panels might be more feasible. However, mainstream panels use 'correlation' (R²) between panel- and WES-based TMB to validate TMB estimation, which could be vulnerable to be distorted by cases with relatively ultra-high TMB within each cancer type. The FDA-approved FoundationOne CDx (F1CDx) panel-based TMB estimation seemed reliable (R² ≥ 0.75) in 24 out of 33 cancer types from the Cancer Genome Atlas, but most of them were overestimated by correlation as only seven cancer types had satisfac

SUBMITTER: Wu HX 

PROVIDER: S-EPMC6685228 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature