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IDH1
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Interpretation 146
Tier 2
IDH1
Variants
IDH1 R132C
IDH1 codon(s) 132 any
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

Reports have shown that melanoma cases can harbor IDH1 mutations. An IDH1 R132C mutation was found in a melanoma metastasis to the lung. IDH1 mutations were found to coexist with BRAF or KIT mutation, and all IDH1 mutations were detected in metastatic lesions. BRAF-mutated melanoma cells, additionally expressing the cancer-related IDH1 mutant have been shown to have increased colony-forming and in vivo growth activities.

Citations
  1. Shibata et al. Mutant IDH1 Confers an in Vivo Growth in a Melanoma Cell Line with BRAF Mutation. The American Journal of Pathology, Vol. 178, No. 3, March 2011
  2. Lopez et al IDH1 mutation identified in human melanoma. Biochem Biophys Res Commun. 2010 July 30; 398(3): 585–587
Last updated: 2015-12-09 20:17:33 UTC
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