Mutational Signatures in Cancer Laboratory Considerations and Emerging Applications

Patterns of somatic mutations have emerged from the broad sequencing of human cancer genomes. These mutational signatures reflect mechanisms of mutagenesis and DNA repair defects and represent an emerging class of cancer biomarkers. The appropriate interpretation of mutational signatures from sequencing assays holds implications in the reporting of molecular diagnostic results for patients with cancer. This brief review describes the scientific principles, laboratory considerations, and emerging clinical applications of mutational signature analysis from clinical cancer genomes. (J Mol Diagn 2023, 25: 790-795; https://doi.org/10.1016/j.jmoldx.2023.08.002)