ArticleEpigenetics2018
A suite of DNA methylation markers that can detect most common human cancers.
Article in Epigenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA.Clinical epigenetics · 2021Pooled it
- Genome-wide methylation profiling of early colorectal cancer using an Illumina Infinium Methylation EPIC BeadChip.World journal of gastrointestinal oncology · 2022Trial
- DNA methyltransferase inhibitors in oncology: clinical progress, limitations and future directions.Epigenomics · 2026Review
- Circulating methylated promoters of HK2 and EGFR as biomarkers in the early detection of cancer.Frontiers in oncology · 2026Article
- Improved circulating tumor DNA profiling by simultaneous extraction of DNA methylation and copy number information from methylated DNA sequencing data.NPJ precision oncology · 2025Article
- Genome-wide methylation analysis of circulating cell-free DNA identifies an episignature in lung cancer: validation of EMP2 as a potential biomarker.Clinical epigenetics · 2025Article
- Review
- Discovery and performance of DNA methylation panels for cancer detection and classification in blood.bioRxiv : the preprint server for biology · 2025Article
- Article
- DNA methylation biomarker panels for differentiating various liver adenocarcinomas, including hepatocellular carcinoma, cholangiocarcinoma, colorectal liver metastases and pancreatic adenocarcinoma liver metastases.Clinical epigenetics · 2024Article
- Simultaneous assessment of human genome and methylome data in a single experiment using limited deamination of methylated cytosine.Genome research · 2024Article
- Detection and Characterization of Methylated Circulating Tumor DNA in Gastric Cancer.International journal of molecular sciences · 2024Article
- Article
- Biomarkers for Early Cancer Detection: A Landscape View of Recent Advancements, Spotlighting Pancreatic and Liver Cancers.ACS pharmacology & translational science · 2024Review
- Discovery of novel DNA methylation biomarker panels for the diagnosis and differentiation between common adenocarcinomas and their liver metastases.Scientific reports · 2024Article
- Cell-free DNA methylation analysis as a marker of malignancy in pleural fluid.Scientific reports · 2024Article
- Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.Cancer discovery · 2024Article
- Inhibition of cytosine 5-hydroxymethylation during progression of cancer precursor lesions in the uterine cervix.PloS one · 2024Article
- Detecting aberrant DNA methylation in Illumina DNA methylation arrays: a toolbox and recommendations for its use.Epigenetics · 2023Article
- Performance of DNA methylation analysis in the detection of high-grade cervical intraepithelial neoplasia or worse (CIN3+): a cross-sectional study.Infectious agents and cancer · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Cancer-specific DNA methylation from the tumor derived fraction of cell free DNA found in blood samples could be used for minimally invasive detection and monitoring of cancer. The knowledge of marker regions with cancer-specific DNA methylation is necessary to the success of such a process. We analyzed the largest cancer DNA methylation dataset available-TCGA Illumina HumanMethylation450 data with over 8,500 tumors-in order to find cancer-specific DNA methylation markers for most common human cancers. First, we identified differentially methylated regions for individual cancer types and those were further filtered against data from normal tissues to obtain marker regions with cancer-specific methylation, resulting in a total of 1,250 hypermethylated and 584 hypomethylated marker CpGs. From hypermethylated markers, optimal sets of six markers for each TCGA cancer type were chosen that could identify most tumors with high specificity and sensitivity [area under the curve (AUC): 0.969-1.000] and a universal 12 marker set that can detect tumors of all 33 TCGA cancer types (AUC >0.84). In addition to hundreds of new DNA methylation markers, our approach also identified markers that are in current clinical use, SEPT9 and GSTP1, indicating the validity of our approach and a significant potential utility for the newly discovered markers. The hypermethylated markers are linked to polycomb associated loci and a significant fraction of the discovered markers is within noncoding RNA genes; one of the best markers is MIR129-2. Future clinical testing of herein discovered markers will confirm new markers that will improve minimally invasive diagnosis and monitoring for multiple cancers.
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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.