FGFR1 alterations (amplification / mutation / fusion)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-FGFR1 |
|---|---|
| Type | Biomarker |
| Aliases | 8p11.23 amplificationFGFR1 alterationsFGFR1 amplificationАльтерації FGFR1 (амплифікація / мутація / фузія) |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ESMO-NSCLC-METASTATIC-2024 SRC-NCCN-NSCLC-2025 SRC-ONCOKB |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "Increased FGFR1 dosage and constitutive signaling", "gene": "FGFR1", "gene_hugo_id": "HGNC:3688", "hotspots": ["8p11.23 amplification (squamous NSCLC, breast luminal, HNSCC subset)", "Fusion (rare; FGFR1-TACC1 in glioma)", "Activating missense (rare)"], "variant_type": "amplification / fusion / missense"} |
| Measurement | MethodFISH (FGFR1/CEN8) OR DNA-NGS for copy number OR RNA-NGS for fusion UnitsFGFR1/CEN8 ratio (≥2.0 commonly used); GCN cutoff varies Sensitivity requirementThreshold not standardized — FGFR1/CEN8 ≥2.0 or GCN ≥6 commonly used in trials |
| Related biomarkers | BIO-FGFR2 BIO-FGFR3-MUTATION |
Notes
~15–20% of squamous NSCLC, ~10% of HR+ breast, subset of HNSCC and small-cell lung carcinoma. Predictive value of amplification alone is modest — earlier trials of multikinase FGFR inhibitors had limited responses; selective inhibitors (erdafitinib, pemigatinib, futibatinib) are primarily indicated for FGFR2/3 alterations. FGFR1 remains a prognostic / investigational target. Hyperphosphatemia is the on-target adverse effect of FGFR inhibition class-wide.
Used By
Actionability
BMA-FGFR1-AMP-BREAST- FGFR1 amplification in HR+ breast cancer (~10-15%): prognostic for endocrine-therapy resi...BMA-FGFR1-AMP-NSCLC-SQUAMOUS- FGFR1 amplification in squamous NSCLC (~15-20%). Multiple FGFR-TKI trials (lucitanib, AZD...
Biomarker
BIO-DDR2- DDR2 activating mutation — discoidin domain receptor tyrosine kinase 2BIO-FGFR2- FGFR2 alterations (fusion / amplification / mutation)BIO-KDR- KDR (VEGFR2) mutation / amplification — vascular endothelial growth factor receptor 2