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. Author manuscript; available in PMC: 2016 Mar 15.
Published in final edited form as: Clin Cancer Res. 2015 Jan 14;21(6):1447–1456. doi: 10.1158/1078-0432.CCR-14-1773

Table 2.

All functionally validated or likely activating mutations identified in metastatic cSCC samples

Gene Mutation Type
BRAF G464R clinically-relevant activating
(rare in melanoma)
BRAF G469R clinically-relevant activating
(1% of melanomas)
KRAS G12C clinically-relevant activating
FGFR3 G380R clinically-relevant activating
(94% of achondroplasia)
KIT E562D functionally validated activating
(exon 11 mutation in 60% of GISTs)
HRAS G13D functionally validated activating
EGFR S720F functionally validated activating
(5% of NSCLCs)
ERBB4 E563K functionally validated activating
EZH2 Y641S functionally validated activating
(22% of FLs)
MTOR S2215F functionally validated activating
PIK3CA P471L likely activating
(same mutation in (15))
HGF E199K likely activating
(same mutation in (15))
CARD11 E24K likely activating (gain of function
mutations in CARD domains in vitro)
CARD11 D199N likely activating (gain of function
mutations in CARD domains in vitro)