ecTMB: a robust method to estimate and classify tumor mutational burden

Tumor Mutational Burden (TMB) is a measure of the abundance of somatic mutations in a tumor, which has been shown to be an emerging biomarker for both anti-PD-(L)1 treatment and prognosis; however, multiple challenges still hinder the adoption of TMB as a biomarker. The key challenges are the incons...

Full description

Saved in:
Bibliographic Details
Published in:Scientific reports 2020-03, Vol.10 (1), p.4983-4983, Article 4983
Main Authors: Yao, Lijing, Fu, Yao, Mohiyuddin, Marghoob, Lam, Hugo Y. K.
Format: Article
Language:English
Subjects:
631/114/2397
692/4028/67
Biomarkers
Biomarkers, Tumor - genetics
Classification
DNA Mutational Analysis
DNA, Neoplasm - analysis
DNA, Neoplasm - genetics
Exome
Genome, Human
Humanities and Social Sciences
Humans
Immunotherapy - methods
Models, Statistical
multidisciplinary
Mutation
Neoplasms - classification
Neoplasms - drug therapy
Neoplasms - genetics
Neoplasms - pathology
Prognosis
Science
Treatment Outcome
Tumor Burden
Tumors
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Tumor Mutational Burden (TMB) is a measure of the abundance of somatic mutations in a tumor, which has been shown to be an emerging biomarker for both anti-PD-(L)1 treatment and prognosis; however, multiple challenges still hinder the adoption of TMB as a biomarker. The key challenges are the inconsistency of tumor mutational burden measurement among assays and the lack of a meaningful threshold for TMB classification. Here we describe a new method, ecTMB (Estimation and Classification of TMB), which uses an explicit background mutation model to predict TMB robustly and to classify samples into biologically meaningful subtypes defined by tumor mutational burden.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-020-61575-1