ArticleClinical cancer research : an official journal of the American Association for Cancer Research2019
Noninvasive Detection of Microsatellite Instability and High Tumor Mutation Burden in Cancer Patients Treated with PD-1 Blockade.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 3 of them syntheses that pooled it.
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Who cites it
96 citing papers in PubMed, 3 syntheses or guidelines pooled it, 151 citations in OpenAlex.
- PD-1/PD-L1 immune checkpoint blockade in breast cancer: research insights and sensitization strategies.Molecular cancer · 2024Pooled it
- Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays.Annals of laboratory medicine · 2024Guideline
- Society for Immunotherapy of Cancer (SITC) clinical practice guideline on immunotherapy for the treatment of gynecologic cancer.Journal for immunotherapy of cancer · 2023Guideline
- Entrectinib in ROS1-positive advanced non-small cell lung cancer: the phase 2/3 BFAST trial.Nature medicine · 2024Trial
- ctDNA response after pembrolizumab in non-small cell lung cancer: phase 2 adaptive trial results.Nature medicine · 2023Trial
- Early detection and subtyping of gastric cancer: A cell-free DNA fragmentome-based liquid biopsy method.iScience · 2026Article
- Detection of MSI signals from peripheral blood for monitoring response to immune checkpoint blockade therapy in patients with advanced microsatellite-unstable gastrointestinal cancers: A pilot study.International journal of cancer · 2026Article
- Cell-Free DNA (cfDNA), Its Applications in Cancer Diagnosis and Monitoring, and Its Potential Role in Regulating Cancer Metabolism.Advances in experimental medicine and biology · 2026Review
- Liquid biopsies across the cancer care continuum.Nature medicine · 2025Review
- Mismatch Repair Deficiency and the Role of Non-Canonical Functions in Cancer: Diagnosis and Therapeutic Implications.International journal of molecular sciences · 2025Review
- Single-Vesicle Molecular Profiling by dSTORM Imaging in a Liquid Biopsy Assay Predicts Early Relapse in Colorectal Cancer.Biomolecules · 2025Article
- Navigating the Landscape of Liquid Biopsy in Colorectal Cancer: Current Insights and Future Directions.International journal of molecular sciences · 2025Review
- Detection of Brain Cancer Using Genome-wide Cell-free DNA Fragmentomes.Cancer discovery · 2025Article
- Bioinformatic analysis and retrospective clinical study identifying DNAJB4 as a pan-cancer biomarker with a highlight on kidney cancer.Clinical and experimental medicine · 2025Article
- Genomic and fragmentomic landscapes of cell-free DNA for early cancer detection.Nature reviews. Cancer · 2025Review
- Circulating tumor DNA in colorectal cancer: biology, methods and applications.Discover oncology · 2025Review
- A detailed analysis of second and third-generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers.Nucleic acids research · 2025Article
- Deciphering ERR family genes as prognostic and immunological biomarkers through pan-cancer analysis with validation in gallbladder cancer.Frontiers in oncology · 2025Article
- Clinical Applications of Circulating Tumor DNA Profiling in GI Cancers.JCO oncology practice · 2024Review
- Evaluation of blood MSI burden dynamics to trace immune checkpoint inhibitor therapy efficacy through the course of treatment.Scientific reports · 2024Observational
36 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 6 institutions in 1 country.
Funding
Abstract
purposeMicrosatellite instability (MSI) and high tumor mutation burden (TMB-High) are promising pan-tumor biomarkers used to select patients for treatment with immune checkpoint blockade; however, real-time sequencing of unresectable or metastatic solid tumors is often challenging. We report a noninvasive approach for detection of MSI and TMB-High in the circulation of patients. EXPERIMENTAL
designWe developed an approach that utilized a hybrid-capture-based 98-kb pan-cancer gene panel, including targeted microsatellite regions. A multifactorial error correction method and a novel peak-finding algorithm were established to identify rare MSI frameshift alleles in cell-free DNA (cfDNA).
resultsThrough analysis of cfDNA derived from a combination of healthy donors and patients with metastatic cancer, the error correction and peak-finding approaches produced a specificity of >99% (
conclusionsThese analyses demonstrate the feasibility of noninvasive pan-cancer screening and monitoring of patients who exhibit MSI or TMB-High and have a high likelihood of responding to immune checkpoint blockade.
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Registered trials
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.