ArticleProceedings of the National Academy of Sciences of the United States of America2017
DNA methylation markers for diagnosis and prognosis of common cancers.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06778317 (Evaluation of the Circulating Epigenetic Biomarker mSEPT9 for Predicting the Occurrence of Hepatocellular Carcinoma in Patients With Cirrhosis), which is not on this map. Cited by 277 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Evaluation of the Circulating Epigenetic Biomarker mSEPT9 for Predicting the Occurrence of Hepatocellular Carcinoma in Patients With Cirrhosis: A Prospective Multicenter Trial (SEPT9_SuRV)
Who cites it
277 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Disease classification for whole-blood DNA methylation: Meta-analysis, missing values imputation, and XAI.GigaScience · 2022Pooled it
- Cadonilimab plus chemotherapy as first-line treatment in PD-L1-negative advanced non-small cell lung cancer: a phase II clinical trial.Nature communications · 2026Trial
- Cell-free DNA methylation markers in the diagnosis of hepatitis B virus-related- hepatocellular carcinoma: a review.Molecular biology reports · 2026Review
- Review
- Plasma circulating tumor deoxyribonucleic acid methylation enables noninvasive disease stratification beyond prostate-specific antigen in prostate cancer.Prostate international · 2026Article
- Tumour-based DNA methylation markers of breast cancer survival: a pooled analysis of 2157 cases.Breast cancer research : BCR · 2026Article
- Inflammatory and Epigenetic Biomarkers in Prostate Disease: Current Evidence, Clinical Limitations, and Future Multimarker Strategies.Diagnostics (Basel, Switzerland) · 2026Review
- Article
- Roles of m6A regulators in shaping methylation patterns and tumor microenvironment immune infiltration in colorectal cancer.Discover oncology · 2026Article
- Clinical utility of sarcoma methylation classifiers in soft tissue sarcoma diagnosis.Journal of cancer research and clinical oncology · 2026Article
- Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study.Nature genetics · 2026Article
- Can DNA Methylation in Peritumoral and Contralateral Breast Tissue Predict Recurrence or Second Breast Cancers?Current issues in molecular biology · 2026Article
- COL11A2 Methylation as a Biomarker for Radiosensitivity and Microenvironment Remodelling in Oral Squamous Cell Carcinoma.International dental journal · 2026Article
- MPCI: A novel metric for quantifying DNA methylation patterns in NGS data.PLoS computational biology · 2026Article
- Development and validation of an 11-CpG methylation signature-based nomogram for predicting prognosis in early-onset breast cancer.Translational cancer research · 2026Article
- BenchmarkingInternational journal of molecular sciences · 2026Article
- Targeting epigenetic methylation: emerging diagnosis and therapeutic strategies in cancer.Experimental hematology & oncology · 2026Review
- Distinct epigenetic aging in sporadic and hereditary neuroendocrine neoplasms.Clinical epigenetics · 2026Article
- Nuclear Histone 3 Post-Translational Modification Profiling in Whole Cells using Spectral Flow Cytometry.bioRxiv : the preprint server for biology · 2026Article
- Advancements in DNA methylation technologies and their application in cancer diagnosis.Epigenetics · 2025Review
217 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors.
Funding
Abstract
The ability to identify a specific cancer using minimally invasive biopsy holds great promise for improving the diagnosis, treatment selection, and prediction of prognosis in cancer. Using whole-genome methylation data from The Cancer Genome Atlas (TCGA) and machine learning methods, we evaluated the utility of DNA methylation for differentiating tumor tissue and normal tissue for four common cancers (breast, colon, liver, and lung). We identified cancer markers in a training cohort of 1,619 tumor samples and 173 matched adjacent normal tissue samples. We replicated our findings in a separate TCGA cohort of 791 tumor samples and 93 matched adjacent normal tissue samples, as well as an independent Chinese cohort of 394 tumor samples and 324 matched adjacent normal tissue samples. The DNA methylation analysis could predict cancer versus normal tissue with more than 95% accuracy in these three cohorts, demonstrating accuracy comparable to typical diagnostic methods. This analysis also correctly identified 29 of 30 colorectal cancer metastases to the liver and 32 of 34 colorectal cancer metastases to the lung. We also found that methylation patterns can predict prognosis and survival. We correlated differential methylation of CpG sites predictive of cancer with expression of associated genes known to be important in cancer biology, showing decreased expression with increased methylation, as expected. We verified gene expression profiles in a mouse model of hepatocellular carcinoma. Taken together, these findings demonstrate the utility of methylation biomarkers for the molecular characterization of cancer, with implications for diagnosis and prognosis.
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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.