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|Protein Effect||gain of function|
|Gene Variant Descriptions||ALK F1245C lies within the protein kinase domain of the Alk protein (UniProt.org). F1245C results in increased downstream signaling and is transforming in cell culture (PMID: 21838707, PMID: 25517749).|
|Associated Drug Resistance||Y|
|Category Variants Paths||
ALK mutant ALK F1245X ALK F1245C
ALK mutant ALK act mut ALK F1245C
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|ALK F1245C TP53 wild-type||neuroblastoma||sensitive||Crizotinib + Cyclophosphamide + Topotecan||Preclinical - Pdx||Actionable||In a preclinical study, Xalkori (crizotinib) worked synergistically with Topotecan and Cytoxan (cyclophosphamide), resulting in sustained tumor regression in crizotinib-resistant neuroblastoma PDX models harboring ALK F1245C and wild-type Tp53 (PMID: 26438783).||26438783|
|EML4 - ALK ALK F1245C||lung non-small cell carcinoma||predicted - resistant||Crizotinib||Case Reports/Case Series||Actionable||In a clinical case study, a non-small cell lung cancer patient harboring EML4-ALK variant 3 demonstrated an initial response to treatment with Xalkori (crizotinib), but progressed after 27 months and was found to have acquired ALK F1245C (PMID: 26775591).||26775591|
|EML4 - ALK ALK F1245C||lung non-small cell carcinoma||sensitive||Ceritinib||Case Reports/Case Series||Actionable||In a clinical case study, a non-small cell lung cancer patient harboring EML4-ALK variant 3 that demonstrated resistance to treatment with Xalkori (crizotinib) after acquisition of ALK F1245C, achieved a complete radiographic response with no evidence of progression at 6 months following treatment with Zykadia (ceritinib) (PMID: 26775591).||26775591|