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Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer

SIMPLE SUMMARY: Liquid biopsies provide a non-invasive means to diagnose and profile tumors when tissue is not available. Sequence-based analysis of cell-free DNA (cfDNA) is frequently used to characterize genomic alterations, with a focus on driver mutations or mechanisms of acquired therapy resist...

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Autores principales: Angeles, Arlou Kristina, Janke, Florian, Bauer, Simone, Christopoulos, Petros, Riediger, Anja Lisa, Sültmann, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8616179/
https://www.ncbi.nlm.nih.gov/pubmed/34830770
http://dx.doi.org/10.3390/cancers13225615
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author Angeles, Arlou Kristina
Janke, Florian
Bauer, Simone
Christopoulos, Petros
Riediger, Anja Lisa
Sültmann, Holger
author_facet Angeles, Arlou Kristina
Janke, Florian
Bauer, Simone
Christopoulos, Petros
Riediger, Anja Lisa
Sültmann, Holger
author_sort Angeles, Arlou Kristina
collection PubMed
description SIMPLE SUMMARY: Liquid biopsies provide a non-invasive means to diagnose and profile tumors when tissue is not available. Sequence-based analysis of cell-free DNA (cfDNA) is frequently used to characterize genomic alterations, with a focus on driver mutations or mechanisms of acquired therapy resistance. However, the epigenome of cfDNA also contains additional information about the tumor, which might open new possibilities for clinical applications. Recent highlighted publications are reviewed on the analysis of fragmentation, epigenomic alterations, as well as nucleosome modifications using cfDNA in various cancers. The potential, challenges, and future directions of genomic and epigenomic analysis of cfDNA in oncology are discussed. ABSTRACT: Cell-free DNA (cfDNA) analysis using liquid biopsies is a non-invasive method to gain insights into the biology, therapy response, mechanisms of acquired resistance and therapy escape of various tumors. While it is well established that individual cancer treatment options can be adjusted by panel next-generation sequencing (NGS)-based evaluation of driver mutations in cfDNA, emerging research additionally explores the value of deep characterization of tumor cfDNA genomics and fragmentomics as well as nucleosome modifications (chromatin structure), and methylation patterns (epigenomics) for comprehensive and multi-modal assessment of cfDNA. These tools have the potential to improve disease monitoring, increase the sensitivity of minimal residual disease identification, and detection of cancers at earlier stages. Recent progress in emerging technologies of cfDNA analysis is summarized, the added potential clinical value is highlighted, strengths and limitations are identified and compared with conventional targeted NGS analysis, and current challenges and future directions are discussed.
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spelling pubmed-86161792021-11-26 Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer Angeles, Arlou Kristina Janke, Florian Bauer, Simone Christopoulos, Petros Riediger, Anja Lisa Sültmann, Holger Cancers (Basel) Review SIMPLE SUMMARY: Liquid biopsies provide a non-invasive means to diagnose and profile tumors when tissue is not available. Sequence-based analysis of cell-free DNA (cfDNA) is frequently used to characterize genomic alterations, with a focus on driver mutations or mechanisms of acquired therapy resistance. However, the epigenome of cfDNA also contains additional information about the tumor, which might open new possibilities for clinical applications. Recent highlighted publications are reviewed on the analysis of fragmentation, epigenomic alterations, as well as nucleosome modifications using cfDNA in various cancers. The potential, challenges, and future directions of genomic and epigenomic analysis of cfDNA in oncology are discussed. ABSTRACT: Cell-free DNA (cfDNA) analysis using liquid biopsies is a non-invasive method to gain insights into the biology, therapy response, mechanisms of acquired resistance and therapy escape of various tumors. While it is well established that individual cancer treatment options can be adjusted by panel next-generation sequencing (NGS)-based evaluation of driver mutations in cfDNA, emerging research additionally explores the value of deep characterization of tumor cfDNA genomics and fragmentomics as well as nucleosome modifications (chromatin structure), and methylation patterns (epigenomics) for comprehensive and multi-modal assessment of cfDNA. These tools have the potential to improve disease monitoring, increase the sensitivity of minimal residual disease identification, and detection of cancers at earlier stages. Recent progress in emerging technologies of cfDNA analysis is summarized, the added potential clinical value is highlighted, strengths and limitations are identified and compared with conventional targeted NGS analysis, and current challenges and future directions are discussed. MDPI 2021-11-10 /pmc/articles/PMC8616179/ /pubmed/34830770 http://dx.doi.org/10.3390/cancers13225615 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Angeles, Arlou Kristina
Janke, Florian
Bauer, Simone
Christopoulos, Petros
Riediger, Anja Lisa
Sültmann, Holger
Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
title Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
title_full Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
title_fullStr Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
title_full_unstemmed Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
title_short Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
title_sort liquid biopsies beyond mutation calling: genomic and epigenomic features of cell-free dna in cancer
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8616179/
https://www.ncbi.nlm.nih.gov/pubmed/34830770
http://dx.doi.org/10.3390/cancers13225615
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