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Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer

Early detection of cancer saves lives, but an effective detection strategy in public health settings requires a delicate balance - periodic screening should neither miss rapidly progressing disease nor fail to detect rare tumors at unusual locations; on the other hand, even a modest false positive r...

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Autor principal: De, Subhajyoti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551553/
https://www.ncbi.nlm.nih.gov/pubmed/34721546
http://dx.doi.org/10.3389/fgene.2021.759832
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author De, Subhajyoti
author_facet De, Subhajyoti
author_sort De, Subhajyoti
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description Early detection of cancer saves lives, but an effective detection strategy in public health settings requires a delicate balance - periodic screening should neither miss rapidly progressing disease nor fail to detect rare tumors at unusual locations; on the other hand, even a modest false positive rate carries risks of over-diagnosis and over-treatment of relatively indolent non-malignant disease. Genomic profiling of cell-free DNA from liquid biopsy using massively parallel sequencing is emerging as an attractive, non-invasive screening platform for sensitive detection of multiple types of cancer in a single assay. Genomic data from cell-free DNA can not only identify oncogenic mutation status, but also additional molecular signatures related to potential tissue of origin, the extent of clonal growth, and malignant disease states. Utilization of the full potential of the molecular signatures from cfDNA sequencing data can guide clinical management strategies for targeted follow-ups using imaging or molecular marker-based diagnostic platforms and treatment options.
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spelling pubmed-85515532021-10-29 Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer De, Subhajyoti Front Genet Genetics Early detection of cancer saves lives, but an effective detection strategy in public health settings requires a delicate balance - periodic screening should neither miss rapidly progressing disease nor fail to detect rare tumors at unusual locations; on the other hand, even a modest false positive rate carries risks of over-diagnosis and over-treatment of relatively indolent non-malignant disease. Genomic profiling of cell-free DNA from liquid biopsy using massively parallel sequencing is emerging as an attractive, non-invasive screening platform for sensitive detection of multiple types of cancer in a single assay. Genomic data from cell-free DNA can not only identify oncogenic mutation status, but also additional molecular signatures related to potential tissue of origin, the extent of clonal growth, and malignant disease states. Utilization of the full potential of the molecular signatures from cfDNA sequencing data can guide clinical management strategies for targeted follow-ups using imaging or molecular marker-based diagnostic platforms and treatment options. Frontiers Media S.A. 2021-10-14 /pmc/articles/PMC8551553/ /pubmed/34721546 http://dx.doi.org/10.3389/fgene.2021.759832 Text en Copyright © 2021 De. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
De, Subhajyoti
Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
title Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
title_full Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
title_fullStr Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
title_full_unstemmed Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
title_short Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
title_sort signatures beyond oncogenic mutations in cell-free dna sequencing for non-invasive, early detection of cancer
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551553/
https://www.ncbi.nlm.nih.gov/pubmed/34721546
http://dx.doi.org/10.3389/fgene.2021.759832
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