actionable variant
A genetic alteration for which there is an available targeted therapy or clinical trial, directly influencing treatment decisions in precision oncology.
Full Definition
An actionable variant is a genetic alteration that has direct therapeutic implications, meaning there are FDA-approved targeted therapies, clinical trials, or established treatment guidelines associated with that specific mutation. Actionability is typically classified into tiers based on the strength of evidence: Tier 1 variants have FDA-approved therapies for the specific tumor type, Tier 2 variants have therapies approved for other tumor types or strong clinical evidence, and lower tiers include investigational approaches or theoretical targets. The determination of actionability requires consideration of the specific cancer type, patient factors, and available therapeutic options. Actionable variants drive clinical decision-making in precision oncology and are the primary focus of therapeutic genomic profiling. The landscape of actionable variants continues to expand with new drug approvals and emerging clinical evidence.
Usage
Usage note: Often classified by tier level; distinguish from merely pathogenic variants which may not have therapeutic options.
In Context
- "The EGFR L858R actionable variant prompted treatment with targeted tyrosine kinase inhibitor therapy." — Treatment recommendation
- "Three actionable variants were identified, including a Tier 1 alteration with FDA-approved therapy." — Molecular tumor board discussion