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Biomarkers

IDH1 Mutation

Also known as: Isocitrate dehydrogenase 1 mutation

Definition

A mutation in the IDH1 gene producing oncometabolite 2-HG, found in cholangiocarcinoma and certain gliomas.

Detailed Explanation

IDH1 mutations can be targeted with inhibitors like ivosidenib. Testing guides therapy in cholangiocarcinoma and lower-grade gliomas.