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PMID | (24317392) | ||||||||||||
Authors | Allegra M, Giacchero D, Segalen C, Dumaz N, Butori C, Hofman V, Hofman P, Lacour JP, Bertolotto C, Bahadoran P, Ballotti R | ||||||||||||
Title | A new KIT mutation (N505I) in acral melanoma confers constitutive signaling, favors tumorigenic properties, and is sensitive to imatinib. | ||||||||||||
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Abstract Text |
Molecular Profile | Treatment Approach |
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KIT N505I | KIT Inhibitor |
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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KIT | N505I | missense | gain of function | KIT N505I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N505I results in constitutive phosphorylation of Kit, activation of downstream Akt and Erk, and is transforming in cell culture (PMID: 24317392). |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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KIT N505I | melanoma | sensitive | Sorafenib | Preclinical | Actionable | In a preclinical study, KIT N505I induced phosphorylation of KIT, ERK, and AKT, and was inhibited by Nexavar (sorafenib) in cell culture of melanocytes, demonstrating sensitivity of N505I to sorafenib (PMID: 24317392). | 24317392 |
KIT N505I | melanoma | predicted - sensitive | Imatinib | Preclinical | Actionable | In a preclinical study, Gleevec (imatinib) decreased phosphorylation of KIT, AKT, and ERK in melanocytes expressing KIT N505I in culture (PMID: 24317392). | 24317392 |