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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).