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

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 ne...

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Autores principales: Arlou Kristina Angeles, Florian Janke, Simone Bauer, Petros Christopoulos, Anja Lisa Riediger, Holger Sültmann
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Lenguaje:EN
Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/0c924f9ef37f4d23a92f3dd9f8e7b175
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spelling oai:doaj.org-article:0c924f9ef37f4d23a92f3dd9f8e7b1752021-11-25T17:01:38ZLiquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer10.3390/cancers132256152072-6694https://doaj.org/article/0c924f9ef37f4d23a92f3dd9f8e7b1752021-11-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/22/5615https://doaj.org/toc/2072-6694Cell-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.Arlou Kristina AngelesFlorian JankeSimone BauerPetros ChristopoulosAnja Lisa RiedigerHolger SültmannMDPI AGarticleliquid biopsycell-free DNAprecision medicinefragmentomicsepigenomicsDNA methylationNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5615, p 5615 (2021)
institution DOAJ
collection DOAJ
language EN
topic liquid biopsy
cell-free DNA
precision medicine
fragmentomics
epigenomics
DNA methylation
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
spellingShingle liquid biopsy
cell-free DNA
precision medicine
fragmentomics
epigenomics
DNA methylation
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Arlou Kristina Angeles
Florian Janke
Simone Bauer
Petros Christopoulos
Anja Lisa Riediger
Holger Sültmann
Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer
description 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.
format article
author Arlou Kristina Angeles
Florian Janke
Simone Bauer
Petros Christopoulos
Anja Lisa Riediger
Holger Sültmann
author_facet Arlou Kristina Angeles
Florian Janke
Simone Bauer
Petros Christopoulos
Anja Lisa Riediger
Holger Sültmann
author_sort Arlou Kristina Angeles
title 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_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_sort liquid biopsies beyond mutation calling: genomic and epigenomic features of cell-free dna in cancer
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/0c924f9ef37f4d23a92f3dd9f8e7b175
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