Detection of ovarian cancer using plasma cell-free DNA methylomes

Ovarian cancer (OC) is a highly lethal gynecologic cancer, and it is hard to diagnose at an early stage. Clinically, there are no ovarian cancer-specific markers for early detection. Here, we demonstrate the use of cell-free DNA (cfDNA) methylomes to detect ovarian cancer, especially the early-stage...

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Bibliographic Details
Published in:Clinical epigenetics 2022-06, Vol.14 (1), p.74-74, Article 74
Main Authors: Lu, Huaiwu, Liu, Yunyun, Wang, Jingyu, Fu, Shaliu, Wang, Lingping, Huang, Chunxian, Li, Jing, Xie, Lingling, Wang, Dongyan, Li, Dan, Zhou, Hui, Rao, Qunxian
Format: Article
Language:English
Subjects:
Biomarkers
Cancer
Classification
Data processing
Deoxyribonucleic acid
Diagnosis
DNA
DNA methylation
DNA sequencing
Genetic aspects
Genomes
Immunoprecipitation
Methylation
Next-generation sequencing
Ovarian cancer
Plasma
Tumors
Ultrasonic imaging
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Summary:Ovarian cancer (OC) is a highly lethal gynecologic cancer, and it is hard to diagnose at an early stage. Clinically, there are no ovarian cancer-specific markers for early detection. Here, we demonstrate the use of cell-free DNA (cfDNA) methylomes to detect ovarian cancer, especially the early-stage OC. Plasma from 74 epithelial ovarian cancer patients, 86 healthy volunteers, and 20 patients with benign pelvic masses was collected. The cfDNA methylomes of these samples were generated by cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq). The differentially methylated regions (DMRs) were identified by the contrasts between tumor and non-tumor groups, and the discrimination performance was evaluated with the iterative training and testing method. The DMRs identified for cfDNA methylomes can well discriminate tumor groups and non-tumor groups (ROC values from 0.86 to 0.98). The late-stage top 300 DMRs are more late-stage-specific and failed to detect early-stage OC. However, the early-stage markers have the potential to discriminate all-stage OCs from non-tumor samples. This study demonstrates that cfDNA methylomes generated with cfMeDIP-seq could be used to identify OC-specific biomarkers for OC, especially early OC detection. To detect early-stage OC, the biomarkers should be directly identified from early OC plasma samples rather than mix-stage ones. Further exploration of DMRs from a k larger early-stage OC cohort is warranted.
ISSN:1868-7075
1868-7083
1868-7083
1868-7075
DOI:10.1186/s13148-022-01285-9