Intermediate
Technical
In the Industry Vocabulary Test
actionable mutation
A genetic alteration for which targeted therapies or clinical trials are available.
Full Definition
An actionable mutation is a genetic alteration in cancer cells that can be targeted by approved therapies or investigational agents in clinical trials. These mutations provide opportunities for precision medicine approaches where treatment selection is based on tumor molecular characteristics rather than only tumor location. Actionable mutations include oncogene amplifications, tumor suppressor deletions, and specific point mutations that confer sensitivity to targeted drugs, making molecular testing essential for optimal treatment planning.
Usage
Usage note: Distinguish from driver mutations, which may not have therapeutic targets available.
In Context
- "Comprehensive genomic profiling identified three actionable mutations suitable for targeted therapy enrollment." — Molecular tumor board discussion
- "The EGFR exon 19 deletion represents an actionable mutation with established therapeutic options." — Genetic counseling report
Also known as
targetable mutation
druggable mutation
therapeutically relevant mutation
Contrasted with
passenger mutation
non-actionable variant
Don't confuse with
pathogenic mutation
driver mutation
somatic variant