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| Ref Type | Journal Article | ||||||||||||
| PMID | (37437229) | ||||||||||||
| Authors | Nicolò E, Munoz-Arcos L, Vagia E, D'Amico P, Reduzzi C, Donahue J, Lorico-Rappa M, Manai M, Behdad A, Zhang Y, Curigliano G, Shah A, Cristofanilli M | ||||||||||||
| Title | Circulating Tumor DNA and Unique Actionable Genomic Alterations in the Longitudinal Monitoring of Metastatic Breast Cancer: A Case of FGFR2-KIAA1598 Gene Fusion. | ||||||||||||
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| Molecular Profile | Treatment Approach |
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| Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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| Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 V564L | invasive ductal carcinoma | predicted - resistant | Pemigatinib | Case Reports/Case Series | Actionable | In a clinical case study, FGFR2 V564L was identified at progression on Pemazyre (pemigatinib) treatment in a patient with metastatic ERBB2 (HER2)-negative invasive ductal carcinoma, who previously also harbored FGFR2-SHTN1 (reported as FGFR2-KIAA1598) (PMID: 37437229). | 37437229 |