DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers
The central objective of the metamorphosis of discovery science into biomedical applications is to serve the purpose of patients and curtail the global disease burden. The journey from the discovery of DNA methylation (DNAm) as a biological process to its emergence as a diagnostic tool is one of the...
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MDPI AG
2023-07-01
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author | Fabio Coppedè Utsa Bhaduri Andrea Stoccoro Vanessa Nicolì Eleonora Di Venere Giuseppe Merla |
author_facet | Fabio Coppedè Utsa Bhaduri Andrea Stoccoro Vanessa Nicolì Eleonora Di Venere Giuseppe Merla |
author_sort | Fabio Coppedè |
collection | DOAJ |
description | The central objective of the metamorphosis of discovery science into biomedical applications is to serve the purpose of patients and curtail the global disease burden. The journey from the discovery of DNA methylation (DNAm) as a biological process to its emergence as a diagnostic tool is one of the finest examples of such metamorphosis and has taken nearly a century. Particularly in the last decade, the application of DNA methylation studies in the clinic has been standardized more than ever before, with great potential to diagnose a multitude of diseases that are associated with a burgeoning number of genes with this epigenetic alteration. Fetal DNAm detection is becoming useful for noninvasive prenatal testing, whereas, in very preterm infants, DNAm is also shown to be a potential biological indicator of prenatal risk factors. In the context of cancer, liquid biopsy-based DNA-methylation profiling is offering valuable epigenetic biomarkers for noninvasive early-stage diagnosis. In this review, we focus on the applications of DNA methylation in prenatal diagnosis for delivering timely therapy before or after birth and in detecting early-stage cancers for better clinical outcomes. Furthermore, we also provide an up-to-date commercial landscape of DNAm biomarkers for cancer detection and screening of cancers of unknown origin. |
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institution | Directory Open Access Journal |
issn | 1661-6596 1422-0067 |
language | English |
last_indexed | 2024-03-11T01:00:02Z |
publishDate | 2023-07-01 |
publisher | MDPI AG |
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series | International Journal of Molecular Sciences |
spelling | doaj.art-c97af1cd6275441eb94206f58e478b142023-11-18T19:43:51ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-07-0124141171510.3390/ijms241411715DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of CancersFabio Coppedè0Utsa Bhaduri1Andrea Stoccoro2Vanessa Nicolì3Eleonora Di Venere4Giuseppe Merla5Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, ItalyLaboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, ItalyDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, ItalyDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, ItalyDepartment of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyLaboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, ItalyThe central objective of the metamorphosis of discovery science into biomedical applications is to serve the purpose of patients and curtail the global disease burden. The journey from the discovery of DNA methylation (DNAm) as a biological process to its emergence as a diagnostic tool is one of the finest examples of such metamorphosis and has taken nearly a century. Particularly in the last decade, the application of DNA methylation studies in the clinic has been standardized more than ever before, with great potential to diagnose a multitude of diseases that are associated with a burgeoning number of genes with this epigenetic alteration. Fetal DNAm detection is becoming useful for noninvasive prenatal testing, whereas, in very preterm infants, DNAm is also shown to be a potential biological indicator of prenatal risk factors. In the context of cancer, liquid biopsy-based DNA-methylation profiling is offering valuable epigenetic biomarkers for noninvasive early-stage diagnosis. In this review, we focus on the applications of DNA methylation in prenatal diagnosis for delivering timely therapy before or after birth and in detecting early-stage cancers for better clinical outcomes. Furthermore, we also provide an up-to-date commercial landscape of DNAm biomarkers for cancer detection and screening of cancers of unknown origin.https://www.mdpi.com/1422-0067/24/14/11715DNA methylationDMNTbisulfite sequencingRRBSepigeneticscancer |
spellingShingle | Fabio Coppedè Utsa Bhaduri Andrea Stoccoro Vanessa Nicolì Eleonora Di Venere Giuseppe Merla DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers International Journal of Molecular Sciences DNA methylation DMNT bisulfite sequencing RRBS epigenetics cancer |
title | DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers |
title_full | DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers |
title_fullStr | DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers |
title_full_unstemmed | DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers |
title_short | DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers |
title_sort | dna methylation in the fields of prenatal diagnosis and early detection of cancers |
topic | DNA methylation DMNT bisulfite sequencing RRBS epigenetics cancer |
url | https://www.mdpi.com/1422-0067/24/14/11715 |
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