ArticleGenes2019
CNV Detection from Circulating Tumor DNA in Late Stage Non-Small Cell Lung Cancer Patients.
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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The trial behind it
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Who cites it
29 citing papers in PubMed.
- Replication stress increases de novo CNVs across the malaria parasite genome.Nucleic acids research · 2026Article
- Lessons from a National Liquid Biopsy Program to Provide Cancer Testing and Treatment for Patients with Advanced Solid Tumors.Current oncology (Toronto, Ont.) · 2025Article
- Replication stress increases de novo CNVs across the malaria parasite genome.bioRxiv : the preprint server for biology · 2025Article
- Circulating tumor DNA predicts clinical benefits of immune checkpoint blockade in HER2-negative patients with advanced gastric cancer.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2025Article
- Development of a streamlined NGS-based TCGA classification scheme for gastric cancer and its implications for personalized therapy.Journal of gastrointestinal oncology · 2024Article
- Article
- Circulating tumour DNA analysis for early detection of lung cancer: a systematic review.Annals of translational medicine · 2024Review
- Plasma circulating tumor DNA unveils the efficacy of PD-1 inhibitors and chemotherapy in advanced gastric cancer.Scientific reports · 2024Article
- Advancements in Circulating Tumor Cell Research: Bridging Biology and Clinical Applications.Cancers · 2024Review
- Analytical evaluation of circulating tumor DNA sequencing assays.Scientific reports · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved.International journal of molecular sciences · 2023Article
- Enhancing Lung Cancer Classification through Integration of Liquid Biopsy Multi-Omics Data with Machine Learning Techniques.Cancers · 2023Article
- The Development and Role of Capmatinib in the Treatment of MET-Dysregulated Non-Small Cell Lung Cancer-A Narrative Review.Cancers · 2023Review
- Development and validation of postoperative circulating tumor DNA combined with clinicopathological risk factors for recurrence prediction in patients with stage I-III colorectal cancer.Journal of translational medicine · 2023Article
- MET gene amplification is a mechanism of resistance to entrectinib in ROS1+ NSCLC.Thoracic cancer · 2022Article
- Diagnostic and Therapeutic Potential of Circulating-Free DNA and Cell-Free RNA in Cancer Management.Biomedicines · 2022Review
- Mutations of PI3K-AKT-mTOR pathway as predictors for immune cell infiltration and immunotherapy efficacy in dMMR/MSI-H gastric adenocarcinoma.BMC medicine · 2022Article
- Genetic Characteristics Associated With Drug Resistance in Lung Cancer and Colorectal Cancer Using Whole Exome Sequencing of Cell-Free DNA.Frontiers in oncology · 2022Article
- DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.Biomedical journal · 2021Review
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While methods for detecting SNVs and indels in circulating tumor DNA (ctDNA) with hybridization capture-based next-generation sequencing (NGS) have been available, copy number variations (CNVs) detection is more challenging. Here, we present a method enabling CNV detection from a 150-gene panel using a very low amount of ctDNA. First, a read depth-based CNV estimation method without a paired blood sample was developed and cfDNA sequencing data from healthy people were used to build a panel of normal (PoN) model. Then, in silico and in vitro simulations were performed to define the limit of detection (LOD) for EGFR, ERBB2, and MET. Compared to the WES results of the 48 samples, the concordance rate for EGFR, ERBB2, and MET CNVs was 78%, 89.6%, and 92.4%, respectively. In another cohort profiled with the 150-gene panel from 5980 lung cancer ctDNA samples, we detected the three genes' amplification with comparable population frequency with other cohorts. One lung adenocarcinoma patient with MET amplification detected by our method reached partial response to crizotinib. These findings show that our ctDNA CNV detection pipeline can detect CNVs with high specificity and concordance, which enables CNV calling in a non-invasive way for cancer patients when tissues are not available.
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