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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Main Authors: Fabio Coppedè, Utsa Bhaduri, Andrea Stoccoro, Vanessa Nicolì, Eleonora Di Venere, Giuseppe Merla
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/24/14/11715
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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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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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