Mutation as a Toxicological Endpoint for Regulatory Decision-Making

Environ Mol Mutagen. 2020 Jan;61(1):34-41. doi: 10.1002/em.22338. Epub 2019 Oct 23.


Mutations induced in somatic cells and germ cells are responsible for a variety of human diseases, and mutation per se has been considered an adverse health concern since the early part of the 20th Century. Although in vitro and in vivo somatic cell mutation data are most commonly used by regulatory agencies for hazard identification, that is, determining whether or not a substance is a potential mutagen and carcinogen, quantitative mutagenicity dose-response data are being used increasingly for risk assessments. Efforts are currently underway to both improve the measurement of mutations and to refine the computational methods used for evaluating mutation data. We recommend continuing the development of these approaches with the objective of establishing consensus regarding the value of including the quantitative analysis of mutation per se as a required endpoint for comprehensive assessments of toxicological risk. Environ. Mol. Mutagen. 61:34-41, 2020. © 2019 Wiley Periodicals, Inc.

Keywords: error-corrected next-generation sequencing; germ cell mutation; point of departure; somatic cell mutation; somatic mosaicism.

MeSH terms

  • Animals
  • Carcinogens / toxicity
  • Germ Cells / drug effects
  • Germ Cells / metabolism
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutagenicity Tests / methods*
  • Mutagens / toxicity*
  • Mutation / drug effects
  • Risk Assessment


  • Carcinogens
  • Mutagens