Table 4 Total mutations, mutations detected, and UVR proportion of mutational burden

From: Unexpected UVR and non-UVR mutation burden in some acral and cutaneous melanomas

 

Total mutations

Mutations/Mb

Structural variations

Total C>T

Total CC>TT

UVR proportion (%)

Mutation detected (BRAF/RAS/NF)

Acral melanoma – UVR

       

 Average

26 399

8.80

141

19 087

198

75.3

 

Case 1

7175

2.39

234

36 139

310

76.9

BRAF V600E

Case 2

45 751

15.25

71

16 717

244

76.6

NF1

Case 3

26 271

8.76

118

4405

41

72.5

None detected

Acral melanoma including subungual – non-UVR

N=32

       

 Average

6722

2.24

361

2057

22

7.8

BRAF=5 (16)

HRAS=1 (3)

NRAS=4 (13)

NF1=8 (25)

None detected=14 (44)

Range

1610–19128

0.54–6.38

41–1132

202–8416

1–431

0–41.5

 

Median

5779

1.92

335

1709

4

4.2

 

Subungual melanoma – non-UVR

N=8

       

 Average

9522

3.17

456

3188

24

14.4

NRAS=1 (12.5)

NF1=2 (25)

None detected=5 (62.5)

Range

5467–19128

1.82–6.38

131–1132

1430–8416

2–66

3.1–41.5

 

Median

7875

2.63

377

2486

7

7.9

 

Cutaneous melanoma – UVR of hands and feet (non-acral sites)

N=2

       

 Average

59 707

19.90

26

49 292

536

99.4

NRAS=1 (50)

None detected=1 (50)

Range

44 344–75 069

14.78–25.02

31–30

35 244–63 340

295–778

99.3–99.5

 

Median

59 707

19.90

26

49 292

536

99.4

 

Cutaneous melanoma – non-UVR

       

 Average

5799

1.93

333

1837

54.5

11.0

 

Case 4

4995

1.67

52

2098

6

13

BRAF V600E

Case 5

4170

1.39

69

1642

7

26.3

BRAF V600E

Case 6

11 908

3.97

1123

3469

2

4.8

None detected

Case 7

2122

0.71

89

138

203

0

None detected

Cutaneous melanoma – UVR

N=136

       

 Average

151 664

50.55

94

126 827

1319

95.7

BRAF=62 (46)

HRAS=3 (2)

NRAS=44 (32)

NF1=14 (10)

None detected=13 (10)

Range

5840–779 056

1.95–259.69

3–657

12 258–645 517

124–6189

70.3–100

 

Median

92 605

30.87

63.5

76 817

932

98.6

 
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