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Gene | ALK |
Variant | F1245Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK F1245Y lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Y has been identified in the scientific literature (PMID: 37012551, PMID: 30523111), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK F1245X ALK F1245Y |
Transcript | NM_004304.5 |
gDNA | chr2:g.29213993A>T |
cDNA | c.3734T>A |
Protein | p.F1245Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29213993A>T | c.3734T>A | p.F1245Y | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29213993A>T | c.3734T>A | p.F1245Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK mutant | lung non-small cell carcinoma | no benefit | Crizotinib + Onalespib | Phase II | Actionable | In a Phase II trial, Onalespib (AT13387) and Xalkori (crizotinib) combination treatment did not significantly improve median progression free survival (269 vs 266 days) or objective response rate (55.4%, 38/68 vs 45.3%, 31/68) compared to Xalkori (crizotinib) single treatment in patients with non-small cell lung carcinoma harboring either an ALK mutation or ALK rearrangement (J Clin Oncol 34, 2016 (suppl; abstr 9059); NCT01712217). | detail... |
ALK mutant | lung non-small cell carcinoma | no benefit | Belizatinib | Phase I | Actionable | In a Phase I trial, treatment with Belizatinib (TSR-011) in ALK inhibitor-naive non-small cell lung cancer patients (n=14) harboring either an ALK mutation, ALK amplification, or an ALK rearrangement resulted in a partial response in 6 patients and stable disease in 8 patients, however, it was determined that the drug resulted in limited efficacy and development of the drug was discontinued (PMID: 31217479; NCT02048488). | 31217479 |