KEGG   VARIANT: 238v1
Entry
238v1                      Variant                                 
Name
EML4-ALK fusion
Gene
ALK  ALK receptor tyrosine kinase [KO:K05119]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
inversion inv(2)(p21p23)
COSF: 473 463 474
Variation
TKI-resistant mutations I1171T C1156Y F1174L L1196M G1269A G1202R S1206Y
COSM: 4381100 99136 28061 99137 1169707 144250 4422789 144251 4422788
Network
nt06210  ERK signaling (cancer)
nt06214  PI3K signaling (cancer)
nt06219  JAK-STAT signaling (cancer)
nt06220  Calcium signaling (cancer)
nt06266  Non-small cell lung cancer
nt06528  Calcium signaling
nt06530  PI3K signaling
Disease
H00014  Non-small cell lung cancer
H00042  Glioma
Drug target
Alectinib (DG01625): D10450<JP/US>
Brigatinib: D10866<JP/US>
Ceritinib: D10551<JP/US>
Crizotinib: D09731<JP/US>
Lorlatinib: D11012<JP/US>
Reference
  Authors
Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H
  Title
Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.
  Journal
Nature 448:561-6 (2007)
DOI:10.1038/nature05945
Reference
  Authors
Bayliss R, Choi J, Fennell DA, Fry AM, Richards MW
  Title
Molecular mechanisms that underpin EML4-ALK driven cancers and their response to targeted drugs.
  Journal
Cell Mol Life Sci 73:1209-24 (2016)
DOI:10.1007/s00018-015-2117-6
Reference
  Authors
Sasaki T, Okuda K, Zheng W, Butrynski J, Capelletti M, Wang L, Gray NS, Wilner K, Christensen JG, Demetri G, Shapiro GI, Rodig SJ, Eck MJ, Janne PA
  Title
The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers.
  Journal
Cancer Res 70:10038-43 (2010)
DOI:10.1158/0008-5472.CAN-10-2956
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