ArticleScientific reports2020
Analysis of tumor mutational burden: correlation of five large gene panels with whole exome sequencing.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 39 citations in OpenAlex.
- Genomic characterization of DNA damage response pathway mutations reveals their adverse impact on EGFR-TKI efficacy in non-small cell lung cancer.Respiratory research · 2026Article
- Genetic landscape features associated with PD-L1 expression status in advanced lung adenocarcinoma: a targeted sequencing analysis.Frontiers in oncology · 2026Article
- Mutations in CREBBP and EP300 HAT and Bromo Domains Drive Hypermutation and Predict Survival in GI Cancers Treated with Immunotherapy.Biomedicines · 2025Article
- Calcium ion-binding genes can predict tumor mutation burden and immune checkpoint blockade response in a pan-cancer model.Discover oncology · 2025Article
- Enhancing the quality of panel-based tumor mutation burden assessment: a comprehensive study of real-world and in-silico outcomes.NPJ precision oncology · 2024Article
- Tumor Mutational Burden as a Biomarker of Immunotherapy Response: An Immunogram Approach in Onco-immunology.Current molecular medicine · 2024Review
- Challenges and Future Directions in the Management of Tumor Mutational Burden-High (TMB-H) Advanced Solid Malignancies.Cancers · 2023Review
- Assessments of tumor mutational burden estimation by targeted panel sequencing: A comprehensive simulation analysis.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- Understanding the Impact of Population and Cancer Type on Tumor Mutation Burden Scores: A Comprehensive Whole-Exome Study in Cancer Patients From India.JCO global oncology · 2023Article
- Evolution of predictive and prognostic biomarkers in the treatment of advanced gastric cancer.Journal of cancer research and clinical oncology · 2022Review
- Neoadjuvant Chemo-Immunotherapy for Locally Advanced Non-Small-Cell Lung Cancer: A Review of the Literature.Journal of clinical medicine · 2022Review
- A mutation-based gene set predicts survival benefit after immunotherapy across multiple cancers and reveals the immune response landscape.Genome medicine · 2022Article
- Article
- Evaluation of tumor mutational burden in small early hepatocellular carcinoma and progressed hepatocellular carcinoma.Hepatic oncology · 2021Article
- Prevalence and Landscape of Actionable Genomic Alterations in Renal Cell Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- PD-L1 Expression Is Significantly Associated with Tumor Mutation Burden and Microsatellite Instability Score.Cancers · 2021Article
- Moving pan-cancer studies from basic research toward the clinic.Nature cancer · 2021Review
- Tremelimumab plus durvalumab retreatment and 4-year outcomes in patients with mesothelioma: a follow-up of the open label, non-randomised, phase 2 NIBIT-MESO-1 study.The Lancet. Respiratory medicine · 2021Article
- Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer.International journal of molecular sciences · 2021Review
- Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer.BMB reports · 2021Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Outcome of immune checkpoint inhibition in cancer can be predicted by measuring PDL1 expression of tumor cells. Search for additional biomarkers led to tumor mutational burden (TMB) as surrogate marker for neoantigens presented. While TMB was previously determined via whole exome sequencing (WES), there have been approaches with comprehensive gene panels as well. We sequenced samples derived from formalin-fixed tumors, a POLE mutated cell line and standard DNA by WES and five different panels. If available, normal tissue was also exome sequenced. Sequencing data was analyzed by commercial software solutions and an in-house pipeline. A robust Pearson correlation (R = 0.9801 ± 0.0167; mean ± sd; N = 7) was determined for the different panels in a tumor paired normal setting for WES. Expanded analysis on tumor only exome sequenced samples yielded similar correlation (R = 0.9439 ± 0.0632; mean ± sd; N = 14). Remaining germline variants increased TMB in WES by 5.761 ± 1.953 (mean ± sd.; N = 7) variants per megabase (v/mb) for samples including synonymous variants and 3.883 ± 1.38 v/mb for samples without synonymous variants compared to tumor-normal paired calling results. Due to limited sample numbers in this study, additional replication is suggested for a clinical setting. Remaining germline variants in a tumor-only setting and artifacts caused by different library chemistries construction might affect the results.
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