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Table 1 An overview of the 152 somatic mutations identified in 113 human glioblastoma samples and 16 high-grade glioma cell lines

From: Mutational profiling of kinases in glioblastoma

GBM sample # IDH1 PTEN TP53 PIK3CA EGFR Other mutated genes
1 T R132H   I162F H1047R† (CH5132799)   
2 T    R248W    
4 T   IVS5-1G > A     
6 T      IVS21-5C > A  
8 T   Y155C E68fs*54    
9 T R132H   V122fs*25, R280G delE110   
13 T     F83S   
14 T    C135Y, C238Y E545A† (CH5132799)   
16 T* R132H   I162F H1047R   
18 T R132C   Y220C, G245S    
20 T    C275Y    
21 T   T319fs*2 R248Q    
24 T   K13E     
26 T     M1V   
27 T     R88Q   
28 T R132H   R273C    
29 T    T125R    
30 T     E545K† (CH5132799)   
34 T R132H   P64fs*58    
35 T    R213W    
37 T   R47K E180K, Y220C    
38 T R132H      
43 T       BRAF(V600E)† (sorafenib, vemurafenib)
45 T   G132D     
46 T    S106R, D208Y    
47 T   Y46* R273C    
49 T    IVS8 + 1G > T    
50 T   L112P     
51 T     H1047L† (CH5132799)   
53 T   IVS3 + 1delGT     NRAS(Q61L)† (MEK162)
55 T   R130* C176*    
56 T   Q149* F134L    
58 T   D24G     
59 T    R273C    
61 T    S260fs*3    
62 T R132H   E286G, R306*    
64 T    P152S    
65 T R132H   N13del G118D   
66 T R132G   R248W    
68 T    R273C    BRAF(K601E)† (sorafenib, vemurafenib)
69 T    R175H    
70 T   S305fs*6     
71 T   K125E     
73 T R132H   R273H    
74 T R132H      
75 T   Y46H P152L    
76 T      E866D† (lapatinib, vandetanib, AEE788)  
78 T    H179D    
79 T R132H      
81 T R132H   V157F, R282W C420R   
83 T       BRAF(V600E)
84 T R132L   Y236N    
87 T   G127R R158H    FLT3(A627T)† (crenolanib, midostaurin)
88 T   P248fs*5     
89 T   I253insSTOP     
92 T      L210Q (cetuximab, panitumumab)  
93 T    R282W H1047Y† (CH5132799)   
96 T R132H   K120E    
97 T    R248W    
98 T   IVS8-1G > A R213*    
99 T   R242* Y220C   P589L† (cetuximab, panitumumab)  
101 T   IVS3 + 1G > T     
102 T      A597P† (cetuximab, panitumumab)  
104 T   Y336*     
105 T   IVS4-1G > C     
106 T*   IVS4-1G > C     
107 T   R130*    G598V† (cetuximab, panitumumab)  
108 T*   R130*    G598V  
109 T    R175H    
111 T     M1V   
112 T R132H   R175H    
113 T R132H   H168R    
114 T   I253S     
115 T* R132H   H168R    
117 T   P96L     TGFBR2 (A204D) (LY2157299, LY2424087, TR1)
118 T R132H   M237I    
Cell lines       
Gli6   R130L E336*    
SKMG3    R282W    
T98G   L42R M237I    
U118   IVS8 + 1G > T R213Q    
U251MG   E242fs*15 R273H    
U373MG   E242fs*15 R273H    
U87   IVS3 + 1G > T     EPHA3 (K500N) (KB004), RPS6KC1 (Q741*)
SF126   G129R     
SF-763    R158L    
A58   T319fs*2 R248Q    
A60   K13E     
CCF-STTG1   L112R     
D384    A159V    
GAMG    L265P    
Hs683    R248Q    
IGRG-121   Y225*     
  1. 37 samples without mutation in sequenced genes are excluded from this table. Mutations depicted in bold are, to our knowledge, novel in cancer, mutations in italics have been reported in cancer but are novel in glioblastoma.
  2. *indicates recurrent tumor (16 T is recurrent glioblastoma of 1 T, 106 T is recurrent glioblastoma of 105 T, 108 T is recurrent glioblastoma of 107 T, 115 T is recurrent glioblastoma of 2 T). † denotes a (likely) activating mutation. Known kinase inhibitors for that specific target or kinase region are shown between brackets (only shown at first occurence in table).
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BMC Cancer

ISSN: 1471-2407

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