Q (haiku): what do idh1 mutations do?

═ answer (success)
I can help clarify what IDH1 mutations are in a cancer genomics context, though this is general knowledge rather than cBioPortal-specific data.

## What IDH1 Mutations Do

**IDH1** (Isocitrate Dehydrogenase 1) is an enzyme in the citric acid cycle. Mutations in IDH1 are found across several cancer types and have functional consequences:

1. **Altered enzyme activity**: IDH1 mutations (most commonly R132H/C/G) result in a *gain-of-function* effect — the mutant enzyme produces an abnormal metabolite called **2-hydroxyglutarate (2-HG)** instead of α-ketoglutarate.

2. **Epigenetic effects**: Elevated 2-HG inhibits α-ketoglutarate-dependent enzymes, including histone and DNA demethylases, leading to widespread DNA hypermethylation and altered chromatin structure.

3. **Cancer associations**:
   - **Acute Myeloid Leukemia (AML)**: IDH1/IDH2 mutations occur in ~20% of cases; associated with specific cytogenetic and molecular subtypes
   - **Gliomas**: ~40% of low-grade gliomas and secondary glioblastomas carry IDH1 mutations; these are generally associated with better prognosis than IDH-wildtype tumors
   - **Cholangiocarcinoma, chondrosarcoma, and other solid tumors**: less common but clinically relevant

4. **Therapeutic targeting**: IDH1 mutations are now druggable — ivosidenib (an IDH1 inhibitor) is approved for IDH1-mutant AML and has shown activity in gliomas and other malignancies.

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## To Explore IDH1 in cBioPortal

If you'd like to see **IDH1 mutation frequencies, affected patients, or associated clinical outcomes** in specific cancer studies, I can query the database and provide:
- Mutation frequency and variant types
- Co-mutated genes
- Patient outcomes by IDH1 status
- Links to view the data in cBioPortal

**What would you like to know?** (e.g., "IDH1 mutations in AML", "IDH1 in gliomas", "which studies have IDH1 data")