actionable mutation
A genetic alteration for which targeted therapy or specific treatment recommendations are available.
Full Definition
An actionable mutation is a genomic alteration that has direct clinical implications for patient treatment decisions. These mutations are associated with approved targeted therapies, clinical trials, or established treatment guidelines. The identification of actionable mutations through tumor sequencing enables precision oncology approaches, allowing clinicians to select treatments most likely to benefit individual patients. The actionability of mutations is continuously evolving as new therapeutic targets and treatment strategies are developed and validated in clinical studies.
Usage
Usage note: Ensure distinction from merely pathogenic mutations; actionability implies therapeutic relevance.
In Context
- "The tumor harbored an actionable mutation in the EGFR gene, making the patient eligible for erlotinib therapy." — Oncology consultation note
- "Of the 47 mutations identified, only three were classified as actionable under current guidelines." — Genomic profiling report