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Details on Person In addition to activation by translocations that lead to the...
| Class:Id | Summation:9723306 |
|---|---|
| _displayName | In addition to activation by translocations that lead to the... |
| _timestamp | 2023-10-14 19:29:10 |
| created | [InstanceEdit:9723307] Rothfels, Karen, 2021-03-18 |
| modified | [InstanceEdit:9723899] Rothfels, Karen, 2021-03-18 [InstanceEdit:9851215] Rothfels, Karen, 2023-10-14 |
| text | In addition to activation by translocations that lead to the formation of ALK fusion proteins, the ALK locus is also subject to activating point mutations (reviewed in Roskoski, 2013; Hallberg and Palmer, 2016; Della Corte et al, 2018). ALK mutations are most prevalent in neuroblastoma, where they are present in 7% of sporadic and up to 50% of familial cases, but also occur at lower frequencies in non-small cell lung cancer, anaplastic thyroid cancer among other cancers (Mosse et al, 2008; Chand et al, 2013; Schonherr et al, 2011; George et al, 2008; Janoueix-Lerousy et al, 2008; reviewed in Della Corte et al, 2018). Missense mutations tend to cluster in the kinase domain, but are also found in the juxtamembrane and extracellular regions (Chen et al, 2008; Murugan et al, 2011; Wang et al, 2011). Activating mutations have been shown in several cases to lead to ligand-independent dimerization and activation, and to promote oncogenic transformation in vitro and in vivo, while some ALK mutations identified in cancers retain dependence on ligand binding (Chand et al, 2008; Schonherr et al, 2011; Chen et al, 2008; George et al, 2008; Mosse et al, 2008; Ceccon et al, 2013; Ceccon et al, 2015; Murugan et al, 2011; Wang et al, 2011; reviewed in Della Corte et al, 2018). |
| (summation) | [Reaction:9700184] Ligand-independent dimerization of point mutants of ALK [Homo sapiens] |
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