ArticleAnnals of oncology : official journal of the European Society for Medical Oncology2018
Targeted methylation sequencing of plasma cell-free DNA for cancer detection and classification.
Article in Annals of oncology : official journal of the European Society for Medical Oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05227261 (Assessment of a Novel Blood Test in Early Detection of the Five Common Cancers Based on the Investigation of the Circulating Tumour DNA), which is not on this map. Cited by 93 papers, 2 of them syntheses 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.
Assessment of a Novel Blood Test in Early Detection of the Five Common Cancers Based on the Investigation of the Circulating Tumour DNA
Who cites it
93 citing papers in PubMed, 2 syntheses or guidelines pooled it, 151 citations in OpenAlex.
- Cancer in Costello syndrome: a systematic review and meta-analysis.British journal of cancer · 2023Pooled it
- Circulating Cell-Free DNA and Colorectal Cancer: A Systematic Review.International journal of molecular sciences · 2018Pooled it
- Pathogenesis exploration of lgG4-related disease: From the traditional central dogma and its remodeling perspective.Chinese medical journal · 2026Review
- Expanding role of cell-free DNA for the early diagnosis and monitoring of pulmonary diseases.Chinese medical journal · 2026Review
- DNMT/TET Imbalance and Network-Level DNA Methylation Remodeling in Ovarian Aging: Mechanistic Perspectives.Biology · 2026Review
- 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
- Identifying Key Epigenetic Modification-Related Genes for Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma and Cellular Validation.Current gene therapy · 2026Article
- A Needle in a Haystack: The Precision of Liquid Biopsy in Finding Bone Tumors.Anti-cancer agents in medicinal chemistry · 2026Review
- Tumor-agnostic detection of circulating tumor DNA in patients with advanced pancreatic cancer using targeted DNA methylation sequencing and cell-free DNA fragmentomics.Molecular oncology · 2025Article
- Advancements in DNA methylation technologies and their application in cancer diagnosis.Epigenetics · 2025Review
- Review
- From multi-omics to deep learning: advances in cfDNA-based liquid biopsy for multi-cancer screening.Biomarker research · 2025Review
- Amplification-free cancer diagnosis based on inhibition of Cas12a activity by site-specific 5mC-modified cfDNA.Nucleic acids research · 2025Article
- Circulating tumor DNA in biliary tract cancers: A review of current applications.World journal of clinical oncology · 2025Review
- Review
- Recent advances in liquid biopsy for precision oncology: emerging biomarkers and clinical applications in lung cancer.Future oncology (London, England) · 2025Review
- Promises and pitfalls of multi-cancer early detection using liquid biopsy tests.Nature reviews. Clinical oncology · 2025Review
- Discovery and validation of cell-free DNA methylation markers for specific diagnosis, differentiation from benign tumors, and prognosis of breast cancer.Breast cancer research : BCR · 2025Article
- Artificial Intelligence in cancer epigenomics: a review on advances in pan-cancer detection and precision medicine.Epigenetics & chromatin · 2025Review
- The epigenetic basis of hepatocellular carcinoma - mechanisms and potential directions for biomarkers and therapeutics.British journal of cancer · 2025Review
33 more citing papers are in PubMed but not listed here.
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Authors and funding
31 authors at 2 institutions in 1 country.
Funding
Abstract
Background: Targeted methylation sequencing of plasma cell-free DNA (cfDNA) has a potential to expand liquid biopsies to patients with tumors without detectable oncogenic alterations, which can be potentially useful in early diagnosis. Patients and methods: We developed a comprehensive methylation sequencing assay targeting 9223 CpG sites consistently hypermethylated according to The Cancer Genome Atlas. Next, we carried out a clinical validation of our method using plasma cfDNA samples from 78 patients with advanced colorectal cancer, non-small-cell lung cancer (NSCLC), breast cancer or melanoma and compared results with patients' outcomes. Results: Median methylation scores in plasma cfDNA samples from patients on therapy were lower than from patients off therapy (4.74 versus 85.29; P = 0.001). Of 68 plasma samples from patients off therapy, methylation scores detected the presence of cancer in 57 (83.8%), and methylation-based signatures accurately classified the underlying cancer type in 45 (78.9%) of these. Methylation scores were most accurate in detecting colorectal cancer (96.3%), followed by breast cancer (91.7%), melanoma (81.8%) and NSCLC (61.1%), and most accurate in classifying the underlying cancer type in colorectal cancer (88.5%), followed by NSCLC (81.8%), breast cancer (72.7%) and melanoma (55.6%). Low methylation scores versus high were associated with longer survival (10.4 versus 4.4 months, P < 0.001) and longer time-to-treatment failure (2.8 versus 1.6 months, P = 0.016). Conclusions: Comprehensive targeted methylation sequencing of 9223 CpG sites in plasma cfDNA from patients with common advanced cancers detects the presence of cancer and underlying cancer type with high accuracy. Methylation scores in plasma cfDNA correspond with treatment outcomes.
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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 Socratic graph.