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Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond
Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal with the detection of mutations. The analysis of cfDNA is often discussed in the context of the noninvasive detec...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852556/ https://www.ncbi.nlm.nih.gov/pubmed/32968207 http://dx.doi.org/10.1038/s41416-020-01047-5 |
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author | Keller, Laura Belloum, Yassine Wikman, Harriet Pantel, Klaus |
author_facet | Keller, Laura Belloum, Yassine Wikman, Harriet Pantel, Klaus |
author_sort | Keller, Laura |
collection | PubMed |
description | Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal with the detection of mutations. The analysis of cfDNA is often discussed in the context of the noninvasive detection of mutations that lead to resistance mechanisms and therapeutic and disease monitoring in cancer patients. Indeed, substantial advances have been made in this area, with the development of methods that reach high sensitivity and can interrogate a large number of genes. Interestingly, however, cfDNA can also be used to analyse different features of DNA, such as methylation status, size fragment patterns, transcriptomics and viral load, which open new avenues for the analysis of liquid biopsy samples from cancer patients. This review will focus on the new perspectives and challenges of cfDNA analysis from mutation detection in patients with solid malignancies. |
format | Online Article Text |
id | pubmed-7852556 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-78525562021-02-08 Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond Keller, Laura Belloum, Yassine Wikman, Harriet Pantel, Klaus Br J Cancer Review Article Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal with the detection of mutations. The analysis of cfDNA is often discussed in the context of the noninvasive detection of mutations that lead to resistance mechanisms and therapeutic and disease monitoring in cancer patients. Indeed, substantial advances have been made in this area, with the development of methods that reach high sensitivity and can interrogate a large number of genes. Interestingly, however, cfDNA can also be used to analyse different features of DNA, such as methylation status, size fragment patterns, transcriptomics and viral load, which open new avenues for the analysis of liquid biopsy samples from cancer patients. This review will focus on the new perspectives and challenges of cfDNA analysis from mutation detection in patients with solid malignancies. Nature Publishing Group UK 2020-09-24 2021-01-19 /pmc/articles/PMC7852556/ /pubmed/32968207 http://dx.doi.org/10.1038/s41416-020-01047-5 Text en © The Author(s) 2020 Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Review Article Keller, Laura Belloum, Yassine Wikman, Harriet Pantel, Klaus Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond |
title | Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond |
title_full | Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond |
title_fullStr | Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond |
title_full_unstemmed | Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond |
title_short | Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond |
title_sort | clinical relevance of blood-based ctdna analysis: mutation detection and beyond |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852556/ https://www.ncbi.nlm.nih.gov/pubmed/32968207 http://dx.doi.org/10.1038/s41416-020-01047-5 |
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