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Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA
Methylation analysis of circulating cell-free DNA (cirDNA), as a liquid biopsy, has a significant potential to advance the detection, prognosis, and treatment of cancer, as well as many genetic disorders. The role of epigenetics in disease development has been reported in several hereditary disorder...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525023/ https://www.ncbi.nlm.nih.gov/pubmed/34663458 http://dx.doi.org/10.1186/s13148-021-01182-7 |
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author | Kerachian, Mohammad Amin Azghandi, Marjan Mozaffari-Jovin, Sina Thierry, Alain R. |
author_facet | Kerachian, Mohammad Amin Azghandi, Marjan Mozaffari-Jovin, Sina Thierry, Alain R. |
author_sort | Kerachian, Mohammad Amin |
collection | PubMed |
description | Methylation analysis of circulating cell-free DNA (cirDNA), as a liquid biopsy, has a significant potential to advance the detection, prognosis, and treatment of cancer, as well as many genetic disorders. The role of epigenetics in disease development has been reported in several hereditary disorders, and epigenetic modifications are regarded as one of the earliest and most significant genomic aberrations that arise during carcinogenesis. Liquid biopsy can be employed for the detection of these epigenetic biomarkers. It consists of isolation (pre-analytical) and detection (analytical) phases. The choice of pre-analytical variables comprising cirDNA extraction and bisulfite conversion methods can affect the identification of cirDNA methylation. Indeed, different techniques give a different return of cirDNA, which confirms the importance of pre-analytical procedures in clinical diagnostics. Although novel techniques have been developed for the simplification of methylation analysis, the process remains complex, as the steps of DNA extraction, bisulfite treatment, and methylation detection are each carried out separately. Recent studies have noted the absence of any standard method for the pre-analytical processing of methylated cirDNA. We have therefore conducted a comprehensive and systematic review of the important pre-analytical and analytical variables and the patient-related factors which form the basis of our guidelines for analyzing methylated cirDNA in liquid biopsy. |
format | Online Article Text |
id | pubmed-8525023 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-85250232021-10-22 Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA Kerachian, Mohammad Amin Azghandi, Marjan Mozaffari-Jovin, Sina Thierry, Alain R. Clin Epigenetics Review Methylation analysis of circulating cell-free DNA (cirDNA), as a liquid biopsy, has a significant potential to advance the detection, prognosis, and treatment of cancer, as well as many genetic disorders. The role of epigenetics in disease development has been reported in several hereditary disorders, and epigenetic modifications are regarded as one of the earliest and most significant genomic aberrations that arise during carcinogenesis. Liquid biopsy can be employed for the detection of these epigenetic biomarkers. It consists of isolation (pre-analytical) and detection (analytical) phases. The choice of pre-analytical variables comprising cirDNA extraction and bisulfite conversion methods can affect the identification of cirDNA methylation. Indeed, different techniques give a different return of cirDNA, which confirms the importance of pre-analytical procedures in clinical diagnostics. Although novel techniques have been developed for the simplification of methylation analysis, the process remains complex, as the steps of DNA extraction, bisulfite treatment, and methylation detection are each carried out separately. Recent studies have noted the absence of any standard method for the pre-analytical processing of methylated cirDNA. We have therefore conducted a comprehensive and systematic review of the important pre-analytical and analytical variables and the patient-related factors which form the basis of our guidelines for analyzing methylated cirDNA in liquid biopsy. BioMed Central 2021-10-18 /pmc/articles/PMC8525023/ /pubmed/34663458 http://dx.doi.org/10.1186/s13148-021-01182-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Review Kerachian, Mohammad Amin Azghandi, Marjan Mozaffari-Jovin, Sina Thierry, Alain R. Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA |
title | Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA |
title_full | Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA |
title_fullStr | Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA |
title_full_unstemmed | Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA |
title_short | Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA |
title_sort | guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free dna |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525023/ https://www.ncbi.nlm.nih.gov/pubmed/34663458 http://dx.doi.org/10.1186/s13148-021-01182-7 |
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