Academic Journal
COL25A1 and METAP1D DNA methylation are promising liquid biopsy epigenetic biomarkers of colorectal cancer using digital PCR
| Title: | COL25A1 and METAP1D DNA methylation are promising liquid biopsy epigenetic biomarkers of colorectal cancer using digital PCR |
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| Authors: | Overs, Alexis, Peixoto, Paul, Hervouet, Eric, Molimard, Chloé, Monnien, Franck, Durand, Jules, Guittaut, Michael, Vienot, Angélique, Viot, Julien, Herfs, Michael, Borg, Christophe, Feugeas, Jean-Paul, Selmani, Zohair |
| Source: | Clin Epigenetics Clinical Epigenetics, Vol 16, Iss 1, Pp 1-15 (2024) |
| Publisher Information: | Springer Science and Business Media LLC, 2024. |
| Publication Year: | 2024 |
| Subject Terms: | Male, Polymerase Chain Reaction/methods, Oncologie, Colorectal Neoplasms/diagnosis, QH426-470, Sciences de la santé humaine, Polymerase Chain Reaction, Epigenesis, Genetic, Circulating Tumor DNA, Circulating Tumor DNA/blood, Genetics, Biomarkers, Tumor, Humans, Human health sciences, Molecular Biology, Genetics (clinical), Aged, Circulating tumor DNA, COL25A1, DNA methylation, Circulating Tumor DNA/genetics, Liquid biopsy, Research, Liquid Biopsy, Computational Biology, Epigenesis, Genetic/genetics, Biomarker, Liquid Biopsy/methods, Computational Biology/methods, DNA Methylation, Middle Aged, Colorectal cancer, Colorectal Neoplasms/genetics, Oncology, Biomarkers, Tumor/blood, Medicine, Female, Biomarkers, Tumor/genetics, METAP1D, Colorectal Neoplasms, Digital PCR, DNA Methylation/genetics, Developmental Biology |
| Description: | Colorectal cancer is a public health issue and was the third leading cause of cancer-related death worldwide in 2022. Early diagnosis can improve prognosis, making screening a central part of colorectal cancer management. Blood-based screening, diagnosis and follow-up of colorectal cancer patients are possible with the study of cell-free circulating tumor DNA. This study aimed to identify novel DNA methylation biomarkers of colorectal cancer that can be used for the follow-up of patients with colorectal cancer.A DNA methylation profile was established in the Gene Expression Omnibus (GEO) database (n = 507) using bioinformatics analysis and subsequently confirmed using The Cancer Genome Atlas (TCGA) database (n = 348). The in silico profile was then validated on local tissue and cell-free DNA samples using methylation-specific digital PCR in colorectal cancer patients (n = 35) and healthy donors (n = 35).The DNA methylation of COL25A1 and METAP1D was predicted to be a colorectal cancer biomarker by bioinformatics analysis (ROC AUC = 1, 95% CI [0.999-1]). The two biomarkers were confirmed with tissue samples, and the combination of COL25A1 and METAP1D yielded 49% sensitivity and 100% specificity for cell-free DNA.Bioinformatics analysis of public databases revealed COL25A1 and METAP1D DNA methylation as clinically applicable liquid biopsies DNA methylation biomarkers. The specificity implies an excellent positive predictive value for follow-up, and the high sensitivity and relative noninvasiveness of a blood-based test make these biomarkers compatible with colorectal cancer screening. However, the clinical impact of these biomarkers in colorectal cancer screening and follow-up needs to be established in further prospective studies. |
| Document Type: | Article Other literature type |
| Language: | English |
| ISSN: | 1868-7083 |
| DOI: | 10.1186/s13148-024-01748-1 |
| Access URL: | https://pubmed.ncbi.nlm.nih.gov/39425144 https://doaj.org/article/16e1bc95891445e18ea6f6d92eedc8ef |
| Rights: | CC BY NC ND |
| Accession Number: | edsair.doi.dedup.....dfade8e17391f725a10d0f5de5c4599c |
| Database: | OpenAIRE |
| ISSN: | 18687083 |
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| DOI: | 10.1186/s13148-024-01748-1 |