tumor mutational signature
A characteristic pattern of mutations that reflects specific mutagenic processes active during tumor development.
Full Definition
A distinctive constellation of mutation types and genomic contexts that serves as a molecular fingerprint of underlying mutational processes such as DNA repair defects, environmental exposures, or therapeutic interventions. Each signature is defined by the relative frequency of specific nucleotide substitutions in their trinucleotide context. Mutational signature analysis can identify tumors with defective DNA repair pathways, predict treatment responses, and reveal environmental or therapeutic exposure histories.
Usage
Usage note: Reference COSMIC signature database numbering when citing specific signatures; avoid confusion with simple mutation counts.
In Context
- "The tumor exhibited mutational signature 3, consistent with homologous recombination deficiency." — Genomic analysis report
- "UV-induced mutational signatures were prevalent in melanomas from sun-exposed skin sites." — Environmental mutagenesis study