Next-Generation Genotoxicology: Using Modern Sequencing Technologies to Assess Somatic Mutagenesis and Cancer Risk.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8800109 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2280 (Electronic) Linking ISSN: 08936692 NLM ISO Abbreviation: Environ Mol Mutagen Subsets: MEDLINE

Publication: New York Ny : Wiley-Liss
Original Publication: New York, NY : Liss, c1987-

High-Throughput Nucleotide Sequencing/*methods ; Mutagenesis/*drug effects ; Mutagens/*toxicity ; Neoplasms/*chemically induced; Animals ; DNA Damage/drug effects ; DNA Mutational Analysis/methods ; Humans ; Mutation/drug effects ; Neoplasms/genetics ; Single-Cell Analysis/methods

Mutations have a profound effect on human health, particularly through an increased risk of carcinogenesis and genetic disease. The strong correlation between mutagenesis and carcinogenesis has been a driving force behind genotoxicity research for more than 50 years. The stochastic and infrequent nature of mutagenesis makes it challenging to observe and to study. Indeed, decades have been spent developing increasingly sophisticated assays and methods to study these low-frequency genetic errors, in hopes of better predicting which chemicals may be carcinogens, understanding their mode of action, and informing guidelines to prevent undue human exposure. While effective, widely used genetic selection-based technologies have a number of limitations that have hampered major advancements in the field of genotoxicity. Emerging new tools, in the form of enhanced next-generation sequencing platforms and methods, are changing this paradigm. In this review, we discuss rapidly evolving sequencing tools and technologies, such as error-corrected sequencing and single cell analysis, which we anticipate will fundamentally reshape the field. In addition, we consider a variety emerging applications for these new technologies, including the detection of DNA adducts, inference of mutational processes based on genomic site and local sequence contexts, and evaluation of genome engineering fidelity, as well as other cutting-edge challenges for the next 50 years of environmental and molecular mutagenesis research. Environ. Mol. Mutagen. 61:135-151, 2020. © 2019 The Authors. Environmental and Molecular Mutagenesis published by Wiley Periodicals, Inc. on behalf of Environmental Mutagen Society.
(© 2019 The Authors. Environmental and Molecular Mutagenesis published by Wiley Periodicals, Inc. on behalf of Environmental Mutagen Society.)

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W81XWH-18-1-0339 International U.S. Department of Defense; R44 ES030642 United States ES NIEHS NIH HHS; 2017-DN-BX- 0160 International National Institute of Justice

Keywords: in vivo mutation; cancer risk assessment; chemical carcinogenesis; consensus sequencing; error-corrected NGS; single molecule sequencing; single-cell sequencing

0 (Mutagens)

Date Created: 20191010 Date Completed: 20200717 Latest Revision: 20200717

20221213

PMC7003768

10.1002/em.22342

31595553