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Mutagenicity and Carcinogenicity

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Related Experiment Video

Updated: Dec 26, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

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

Lijing Yao¹, Yao Fu¹, Marghoob Mohiyuddin¹

¹Roche Sequencing Solutions, Santa Clara, CA, 95050, USA.

Scientific Reports

|March 20, 2020

Summary

This summary is machine-generated.

Tumor Mutational Burden (TMB) measurement has challenges. A new method, ecTMB, robustly predicts TMB and classifies tumors into meaningful subtypes, improving biomarker adoption.

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Area of Science:

Oncology
Genomics
Biomarker Discovery

Background:

Tumor Mutational Burden (TMB) is a key biomarker for anti-PD-(L)1 therapy and prognosis.
Current TMB assays face challenges in consistency and meaningful threshold definition.
These limitations hinder the clinical adoption of TMB as a reliable biomarker.

Purpose of the Study:

To introduce ecTMB, a novel method for robust TMB estimation and classification.
To address the inconsistencies in TMB measurement across different assays.
To define biologically meaningful subtypes based on TMB for improved clinical utility.

Main Methods:

Development of ecTMB, incorporating an explicit background mutation model.
Robust prediction of TMB using the ecTMB methodology.
Classification of tumor samples into subtypes based on predicted TMB values.

Main Results:

ecTMB demonstrates robust prediction of Tumor Mutational Burden.
The method enables reliable classification of samples into TMB-defined subtypes.
This approach aims to overcome current limitations in TMB assay standardization.

Conclusions:

ecTMB offers a standardized and robust approach to TMB assessment.
The method facilitates the classification of tumors into biologically relevant subtypes.
This advancement is expected to enhance the utility of TMB as a clinical biomarker.