ArticleBMC medicine2016
Novel algorithmic approach predicts tumor mutation load and correlates with immunotherapy clinical outcomes using a defined gene mutation set.
Article in BMC medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 3 of them syntheses that pooled it.
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Who cites it
78 citing papers in PubMed, 3 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Japanese Society of Medical Oncology/Japan Society of Clinical Oncology/Japanese Society of Pediatric Hematology/Oncology-led clinical recommendations on the diagnosis and use of immunotherapy in patients with high tumor mutational burden tumors.International journal of clinical oncology · 2023Guideline
- Integrated genomic analysis identifies a genetic mutation model predicting response to immune checkpoint inhibitors in melanoma.Cancer medicine · 2020Pooled it
- The Predictive Value of Tumor Mutation Burden on Efficacy of Immune Checkpoint Inhibitors in Cancers: A Systematic Review and Meta-Analysis.Frontiers in oncology · 2019Pooled it
- Tilsotolimod with Ipilimumab Drives Tumor Responses in Anti-PD-1 Refractory Melanoma.Cancer discovery · 2021Trial
- Expert consensus on the detection and clinical application of tumor mutational burden.Cancer biology & medicine · 2026Article
- Peri-transplant use of immune checkpoint inhibitors in hepatocellular carcinoma: a transplant oncology perspective on safety, timing, post-transplant management, and future directions.Frontiers in oncology · 2026Review
- Research progress in augmentation strategies for PD-1/PD-L1 inhibitors in bladder cancer: from biological determinants to clinical applications.Frontiers in immunology · 2026Review
- Artificial Intelligence in Histopathological Analysis for Predicting Immunotherapy Response in Cutaneous Melanoma.International journal of molecular sciences · 2025Review
- Machine learning-driven estimation of mutational burden highlights DNAH5 as a prognostic marker in colorectal cancer.Biology direct · 2024Article
- In silico designed mRNA vaccines targeting CA-125 neoantigen in breast and ovarian cancer.Vaccine · 2023Article
- Tumor Mutational Burden for Predicting Prognosis and Therapy Outcome of Hepatocellular Carcinoma.International journal of molecular sciences · 2023Review
- The future of affordable cancer immunotherapy.Frontiers in immunology · 2023Review
- Cancer Resistance to Immunotherapy: Molecular Mechanisms and Tackling Strategies.International journal of molecular sciences · 2022Review
- Multi-modal molecular programs regulate melanoma cell state.Nature communications · 2022Article
- Epigenetic Repression of STING by MYC Promotes Immune Evasion and Resistance to Immune Checkpoint Inhibitors in Triple-Negative Breast Cancer.Cancer immunology research · 2022Article
- hDirect-MAP: projection-free single-cell modeling of response to checkpoint immunotherapy.Briefings in bioinformatics · 2022Article
- Multi-Level Analysis and Identification of Tumor Mutational Burden Genes across Cancer Types.Genes · 2022Article
- Clinical and Molecular Characterization ofJCO precision oncology · 2022Article
- The Predictive Value of Tumor Mutation Burden on Clinical Efficacy of Immune Checkpoint Inhibitors in Melanoma: A Systematic Review and Meta-Analysis.Frontiers in pharmacology · 2022Review
- Real-world survival analysis by tumor mutational burden in non-small cell lung cancer: a multisite U.S. study.Oncotarget · 2022Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundWhile clinical outcomes following immunotherapy have shown an association with tumor mutation load using whole exome sequencing (WES), its clinical applicability is currently limited by cost and bioinformatics requirements.
methodsWe developed a method to accurately derive the predicted total mutation load (PTML) within individual tumors from a small set of genes that can be used in clinical next generation sequencing (NGS) panels. PTML was derived from the actual total mutation load (ATML) of 575 distinct melanoma and lung cancer samples and validated using independent melanoma (n = 312) and lung cancer (n = 217) cohorts. The correlation of PTML status with clinical outcome, following distinct immunotherapies, was assessed using the Kaplan-Meier method.
resultsPTML (derived from 170 genes) was highly correlated with ATML in cutaneous melanoma and lung adenocarcinoma validation cohorts (R
conclusionsThe approach of using small NGS gene panels, already applied to guide employment of targeted therapies, may have utility in the personalized use of immunotherapy in cancer.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.