mutation signature
A characteristic pattern of mutations that reflects specific mutagenic processes active during tumor development.
Full Definition
Mutation signatures are distinct patterns of base substitutions, insertions, or deletions that arise from specific DNA damage and repair processes. Each signature represents the molecular fingerprint of underlying mutagenic mechanisms, such as UV exposure, tobacco smoking, DNA polymerase defects, or chemotherapy. The Catalogue of Somatic Mutations in Cancer (COSMIC) database contains over 60 validated signatures. Analysis of mutation signatures helps identify the etiology of cancer development and can guide treatment decisions, particularly for DNA repair deficiencies amenable to targeted therapy.
Usage
Usage note: Signature numbering follows COSMIC database conventions (e.g., Signature 3, Signature 13).
In Context
- "The tumor exhibited a prominent mutation signature associated with homologous recombination deficiency." — Genomic analysis report
- "Mutation signature analysis revealed evidence of prior platinum chemotherapy exposure." — Treatment history assessment