Mutational Signatures in Cancer: Laboratory Considerations and Emerging Applications

Fei Dong; Kurtis D Davies

doi:10.1016/j.jmoldx.2023.08.002

Mutational Signatures in Cancer: Laboratory Considerations and Emerging Applications

J Mol Diagn. 2023 Aug 24:S1525-1578(23)00179-4. doi: 10.1016/j.jmoldx.2023.08.002. Online ahead of print.

Authors

Fei Dong¹, Kurtis D Davies²

Affiliations

¹ Department of Pathology, Stanford University School of Medicine, Stanford, California. Electronic address: feidng@stanford.edu.
² Emerging and Evolving Biomarker Content Committee, A Working Group of the Training and Education Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Colorado-Anschutz Medical Campus, Aurora, Colorado.

PMID: 37633594
DOI: 10.1016/j.jmoldx.2023.08.002

Abstract

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.

Publication types

Review