ArticleGynecologic oncology2022
Methylated DNA markers for plasma detection of ovarian cancer: Discovery, validation, and clinical feasibility.
Article in Gynecologic oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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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
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Genome-wide association analyses identify candidate loci for amyloid imaging and plasma biomarkers in adults with Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Pooled it
- Early diagnosis of ovarian cancer based on methylation profiles in peripheral blood cell-free DNA: a systematic review.Clinical epigenetics · 2023Pooled it
- Epigenetic mechanisms and clinical translation in ovarian cancer: from molecular pathways to precision therapy.Bioscience reports · 2026Review
- DNA methylation biomarkers for early detection of ovarian cancer.Molecular biology reports · 2026Review
- Biological and pathogenic roles of major genes harbored in intrachromosomal amplification of chromosome 21 in childhood acute lymphoblastic leukemia (Review).Oncology letters · 2026Review
- Circulating Tumor DNA in Ovarian Cancer: Emerging Roles in Early Detection, Risk Stratification, and Disease Monitoring.Cancers · 2026Review
- Precision oncology in gynecologic cancers: molecular taxonomy, biomarker-guided therapeutics, and the challenge of therapeutic resistance.Frontiers in oncology · 2026Review
- GYPC methylation performance in detecting cervical (pre)cancer in high-risk HPV-positive women using liquid-based cervical scrapes.Infectious agents and cancer · 2025Article
- Identifying ovarian cancer with machine learning DNA methylation pattern analysis.Scientific reports · 2025Article
- Improved tumor-type informed compared to tumor-informed mutation tracking for ctDNA detection and microscopic residual disease assessment in epithelial ovarian cancer.Journal of experimental & clinical cancer research : CR · 2025Article
- Liquid biopsy in gynecological cancers: a translational framework from molecular insights to precision oncology and clinical practice.Journal of experimental & clinical cancer research : CR · 2025Review
- BCAT1 contributes to the development of TKI-resistant CML.Cellular oncology (Dordrecht, Netherlands) · 2025Article
- Blood Plasma Methylated DNA Markers in the Detection of Lymphoma: Discovery, Validation, and Clinical Pilot.American journal of hematology · 2025Article
- Clinical utility of various liquid biopsy samples for the early detection of ovarian cancer: a comprehensive review.Frontiers in oncology · 2025Review
- BCAA metabolism: the Achilles' heel of ovarian cancer, polycystic ovary syndrome, and premature ovarian failure.Frontiers in endocrinology · 2025Review
- Early detection of pancreatic cancer: Study design and analytical considerations in biomarker discovery and early phase validation studies.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2024Review
- Article
- Methylated DNA Markers in Voided Urine for the Identification of Clinically Significant Prostate Cancer.Life (Basel, Switzerland) · 2024Article
- Global, regional, and national burden of female cancers in women of child-bearing age, 1990-2021: analysis of data from the global burden of disease study 2021.EClinicalMedicine · 2024Article
- Molecular analysis for ovarian cancer detection in patient-friendly samples.Communications medicine · 2024Article
Corrections and comments
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Authors and funding
29 authors at 5 institutions in 1 country.
Funding
Abstract
objectiveAberrant DNA methylation is an early event in carcinogenesis which could be leveraged to detect ovarian cancer (OC) in plasma.
methodsDNA from frozen OC tissues, benign fallopian tube epithelium (FTE), and buffy coats from cancer-free women underwent reduced representation bisulfite sequencing (RRBS) to identify OC MDMs. Candidate MDM selection was based on receiver operating characteristic (ROC) discrimination, methylation fold change, and low background methylation among controls. Blinded biological validation was performed using methylated specific PCR on DNA extracted from independent OC and FTE FFPE tissues. MDMs were tested using Target Enrichment Long-probe Quantitative Amplified Signal (TELQAS) assays in pre-treatment plasma from women newly diagnosed with OC and population-sampled healthy women. A random forest modeling analysis was performed to generate predictive probability of disease; results were 500-fold in silico cross-validated.
resultsThirty-three MDMs showed marked methylation fold changes (10 to >1000) across all OC subtypes vs FTE. Eleven MDMs (GPRIN1, CDO1, SRC, SIM2, AGRN, FAIM2, CELF2, RIPPLY3, GYPC, CAPN2, BCAT1) were tested on plasma from 91 women with OC (73 (80%) high-grade serous (HGS)) and 91 without OC; the cross-validated 11-MDM panel highly discriminated OC from controls (96% (95% CI, 89-99%) specificity; 79% (69-87%) sensitivity, and AUC 0.91 (0.86-0.96)). Among the 5 stage I/II HGS OCs included, all were correctly identified.
conclusionsWhole methylome sequencing, stringent filtering criteria, and biological validation yielded candidate MDMs for OC that performed with high sensitivity and specificity in plasma. Larger plasma-based OC MDM studies, including testing of pre-diagnostic specimens, are warranted.
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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.