Mutational signatures of environmental exposures to assess cancer risk
Environmental mutagens can imprint characteristic genome-wide mutational signatures.
These signatures serve as permanent genomic records of past exposures, overcoming key limitations of conventional human exposure assessments.
Large-scale characterization of mutational signatures in cancer genomes has greatly expanded the understanding of environmental carcinogens.
Recent high-accuracy single-molecule DNA sequencing methods enable the detection of mutational signatures in accessible, nonmalignant human tissues, opening the possibility of integrating mutational signature analyses into cancer epidemiology to improve exposure detection and quantification— an emerging paradigm of ‘mutational epidemiology’.
https://www.cell.com/trends/cancer/fulltext/S2405-8033(25)00329-2
