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Table 1 Distribution of TERT promoter mutations in HCC, associated to different etiologies, from divers geographic regions

From: Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma

Patients (n = 1939)

HBV+ patients (n = 730)

HCV+ patients ( n = 501 )

Other etiol. (n = 708)

TERTp mut (n = 929) (%)

−124 hotspot (n = 869) (%)

−146 hotspot (n = 43) (%)

HBV+ mut (n = 227) (%)

HCV+ mut (n = 313) (%)

Other etiol. muta (n = 389) (%)

Article

AFRICA

Lesotho (n = 2)

2

  

1 (50)

 

1 (100)

1 (50)

  

Cevik et al., 2015 [60]

Mozambique (n = 6)

5

 

1

4 (66.6)

2 (50)

2 (50)

3 (60)

 

1 (100)

Cevik et al., 2015 [60]

South Africa (n = 2)

2

  

1 (50)

1 (100)

 

1 (50)

  

Cevik et al., 2015 [60]

Swaziland (n = 1)

1

        

Cevik et al., 2015 [60]

Transkei (n = 4)

1

 

3

2 (50)

2 (100)

   

2 (66.6)

Cevik et al., 2015 [60]

Total cases ( n = 15 )

11

 

4

8 (53.3)

5 (62.5)

3 (37.5)

5 (45.5)

 

3 (75)

 

AMERICA

USA - African – Americans (n = 12)

2

7

3

8 (66.6)

8 (100)

 

1 (50)

5 (71.4)

2 (66.6)

Killela et al., 2013 [61]b

USA - African – Americans (n = 11)

1

9

1

1 (9.1)

1 (100)

  

1 (11.1)

 

Totoki et al., 2012 [31]

USA - Asian Ancestry (n = 14)

8

4

2

5 (35.7)

4 (80)

1 (20)

 

4 (100)

1 (50)

Totoki et al., 2012 [31]

USA – Asian Ancestry (n = 8)

7

 

1

2 (25)

2 (100)

 

1 (14.3)

 

1 (100)

Killela et al., 2013 [61]b

USA - European Ancestry (n = 50)

3

32

15

21 (42)

20 (95.2)

1 (4.8)

2 (66.6)

13 (40.6)

6 (40)

Totoki et al., 2012 [31]

USA – European Ancestry (n = 24)

1

7

16

12 (50)

12 (100)

  

4 (57.1)

8 (50)

Killela et al., 2013 [61]b

USA – Unknown Ancestry (n = 17)

5

2

10

5 (29.4)

4 (80)

1 (20)

2 (40)

1 (50)

2 (20)

Killela et al., 2013 [61]b

USA – Unknown Ancestry (n = 14)

1

6

7

6 (42.8)

6 (100)

  

2 (33.3)

4 (57.1)

Totoki et al., 2012 [31]

Total cases ( n = 150 )

28

67

55

60 (40)

57 (95)

3 (5)

6 (21.4)

30 (44.8)

24 (43.6)

 

ASIA

China (n = 275)

259

 

16

85 (30.9)

84 (98.8)

1 (1.2)

78 (30.1)

 

7 (43.7)

Yang et al., 2016 [74]

China (n = 35)

  

35

11 (31.4)

9 (81.8)

2 (18.2)

  

11 (31.4)

Huang et al., 2015 [74]

China (n = 8)

8

        

Cevik et al., 2015 [60]

Japan (n = 374)

107e

139

128

224b (59.8)

208 (92.8)

9 (4)

40 (37.4)

104 (74.8)

80 (62.5)

Totoki et al., 2014 [31]

Japan (n = 11)

  

11

9 (81.8)

9 (100)

   

9 (81.8)

Ki et al., 2016 [77]

Japan (n = 11)

1

 

10

4 (36.4)

3 (75)

1 (25)

  

4 (40)

Cevik et al., 2015 [60]

South Korea (n = 105)

78

6

21

41 (39)

39 (95.1)

2 (4.9)

23 (29.4)

5 (83.3)

13 (61.9)

Lee et al., 2016 [76]

Taiwan (n = 195)

12e

50

24

57 (29.2)

54 (94.7)

3 (5.3)

25 (20.6)

27 (54)

5 (20.8)

Chen et al., 2014 [73]

Total cases ( n = 1014 )

574

195

245

431 (42.5)

406 (94.2)

18 (4.2)

166 (28.9)

136 (69.7)

129 (52.6)

 

EUROPE

France (n = 305)

67

68

170

179 (58.6)

168c (93.8)

11 (6.1)

26 (38.8)

49 (72.1)

104 (61.1)

Nault et al., 2013 [69]

France (n = 193)

24e

36

133

120d (62.1)

106c (88.3)

5 (4.2)

10 (41.6)

27 (75)

83 (62.4)

Schulze et al., 2015 [30]

Germany (n = 78)

  

78

37 (47.4)

37 (100)

   

37 (47.4)

Quaas et al., 2014 [78]

Germany (n = 7)

3

 

4

3 (42.8)

2 (66.6)

1 (33.3)

1 (33.3)

 

2 (50)

Cevik et al., 2015 [60]

Italy (n = 127)

12e

110

5

64 (50.4)

62 (96.9)

2 (3.1)

5 (41.6)

59 (53.6)

 

Pezzuto et al., 2016 [32]

Italy (n = 41)

10

20

11

21d (51.2)

20 (95.2)

 

7 (70)

8 (40)

6 (54.5)

Schulze et al., 2015 [30]

Spain (n = 9)

1

5

3

6 (66.6)

6 (100)

 

1 (100)

4 (80)

1 (33.3)

Schulze et al., 2015 [30]

Total cases ( n = 760 )

117

239

404

430 (56.6)

401 (93.2)

19 (4.4)

50 (42.7)

147 (61.5)

233 (57.7)

 
  1. aThis group comprises HCC cases of various etiologies including alcohol intake, metabolic syndrome, NAFLD, NASH, hemochromatosis and cases with unknown etiology (Cevik et al., [60], Huang et al., [74], Killela et al., [61], Quaas et al., [78], Schulze et al., [30])
  2. bThis group comprises 4 cases of −57 T > G mutations, one case of −64 CG > TC substitution, one case of −69 C > A substitution and one patient showing contemporary −124 G > A mutation and of −116 G > T substitution (Totoki et al., [31])
  3. cThese groups comprise two (Nault et al., [69]) and one case (Schulze et al., [30]) of −124 G > T mutation, respectively
  4. dThese groups comprise 4 mutations −57 T > G, one substitution −53 A > G, one substitution g.1271232 A > G, one substitution 1293829 G > T and two cases of deletion (French cohort) and one case of g.1294963 G > A substitution (Italian cohort), respectively (Schulze et al., [30])
  5. eThese groups comprise twelve cases (Totoki et al., [31]), twenty cases (Chen et al., [73]) four cases (Schulze et al., [30]) and two cases (Pezzuto et al., [32]) of HBV+/HCV+ patients, respectively
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Infectious Agents and Cancer

ISSN: 1750-9378

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