An Exon Signature to Estimate the Tumor Mutational Burden of Right-sided Colon Cancer Patients.

ABSTRACT: The clinical applicability of the whole-exome sequencing (WES) in estimating tumor mutational burden (TMB) is currently limited by high cost, time-consuming and tissue availability. And given to the differences in the mutational landscapes among different types of cancer, we aimed to develop a cancer-specific signature to estimate TMB for right-sided colon cancer patients (RCC). Using WES data of 315 RCC patients, we identified the exons in which the number of mutational sites of the coding DNA sequences associated with TMB through linear regression analysis. Then, among these exons, we extracted a signature composed by 102 exons (~0.13 Mbp) through a heuristic selection procedure. The TMB estimated by the signature was highly correlated with those calculated by WES in the discovery datase

SUBMITTER: Guo W 

PROVIDER: S-EPMC6959028 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature