Most common gene mutations by tissue type and histology

 

Most common gene mutations by tissue and histology listed by frequency from review of full genome and targeted screens with relative pathogenic sensitivity (RPS) calculation results. Tissue types include adipocytes, bone marrow cells, and hepatocytes, lymphocytes, neurons & glia, and vascular endothelial cells.

 

Tissue

Histology

Gene

 Mutation Found

 Quantity of Tests

Percent W/ Mutations

RSP

Adipocytes

Liposarcoma

TERT

54

169

32.0%

7.53E-06

PIK3CA

22

200

11.0%

1.20E-06

TP53

20

212

9.4%

4.93E-06

HRAS

4

101

4.0%

1.19E-05

FGFR3

1

28

3.6%

2.29E-06

CDKN2A

2

78

2.6%

9.40E-07

KRAS

2

91

2.2%

4.65E-07

CTNNB1

4

186

2.2%

5.25E-07

KIT

3

157

1.9%

2.31E-07

NF1

2

107

1.9%

6.61E-08

BRAF

1

54

1.9%

9.01E-08

Bone Marrow Cells

Chondroblastoma

H3F3B

74

87

85.1%

2.43E-04

H3F3A

5

86

5.8%

6.25E-06

Chondrosarcoma

IDH1

315

693

45.5%

2.40E-05

COL2A1

31

126

24.6%

7.40E-06

TP53

26

177

14.7%

7.67E-06

TTN

8

76

10.5%

3.74E-07

MUC16

6

76

7.9%

4.89E-07

MUC17

6

76

7.9%

2.04E-06

RYR2

6

76

7.9%

9.97E-08

IDH2

27

425

6.4%

3.42E-06

CDKN2A

14

278

5.0%

1.85E-06

PTCH1

5

116

4.3%

5.83E-07

Giant Cell Tumor

H3F3A

107

133

80.5%

8.65E-05

HRAS

1

2

50.0%

1.50E-04

BRAF

1

17

5.9%

2.86E-07

IDH1

1

60

1.7%

8.81E-07

IDH2

1

60

1.7%

8.97E-07

H3F3B

2

132

1.5%

4.33E-06

Osteosarcoma

TP53

75

291

25.8%

1.35E-05

MUC16

18

107

16.8%

1.04E-06

MUC4

12

107

11.2%

1.72E-06

ATRX

13

139

9.4%

3.32E-07

CDKN2A

28

365

7.7%

2.81E-06

RB1

16

210

7.6%

4.28E-07

APOB

8

107

7.5%

1.75E-06

TTN

8

107

7.5%

2.66E-07

Hepatocytes

Hepatocellular Carcinoma

TTN

305

1,021

29.9%

1.06E-06

TP53

1,234

4,236

29.1%

1.52E-05

TERT

593

2,265

26.2%

6.17E-06

CTNNB1

1,177

5,429

21.7%

5.29E-06

MUC16

201

984

20.4%

1.26E-06

OBSCN

130

982

13.2%

7.63E-07

AXIN1

200

1,628

12.3%

1.81E-06

ARID1A

142

1,183

12.0%

1.39E-06

PCLO

106

961

11.0%

2.69E-07

RYR2

104

962

10.8%

1.37E-07

CSMD1

97

957

10.1%

4.92E-08

SYNE1

83

963

8.6%

1.67E-07

Lymphocytes

Hodgkin's Lymphoma

SOCS1

11

24

45.8%

2.60E-04

TNFAIP3

24

74

32.4%

1.91E-05

NFKBIE

2

12

16.7%

2.19E-05

NRAS

6

40

15.0%

1.21E-05

TP53

3

26

11.5%

6.03E-06

MYC

26

56

46.4%

8.65E-05

ID3

17

53

32.1%

1.72E-04

TP53

70

338

20.7%

1.08E-05

FBXO11

8

53

15.1%

1.53E-06

GNA13

6

53

11.3%

2.38E-06

SMARCA4

6

53

11.3%

1.12E-06

ARID1A

8

82

9.8%

1.13E-06

DDX3X

5

53

9.4%

3.03E-06

PTEN

9

108

8.3%

7.68E-07

RHOA

10

131

7.6%

1.44E-06

Mature B-Cell Lymphoma

BCL2

89

286

31.1%

1.58E-06

KMT2D

103

335

30.7%

7.34E-06

TP53

180

866

20.8%

1.09E-05

CREBBP

83

436

19.0%

1.22E-06

PIM1

44

269

16.4%

3.10E-05

MYD88

262

1,712

15.3%

3.37E-05

SOCS1

55

371

14.8%

8.39E-05

B2M

40

283

14.1%

2.12E-05

EZH2

136

1,034

13.2%

1.70E-06

GNA13

34

268

12.7%

2.67E-06

SGK1

33

273

12.1%

8.12E-07

TNFAIP3

84

876

9.6%

5.64E-06

Precursor Cell Lymphoblastic Lymphoma

TET2

1

1

100.0%

7.47E-06

NOTCH1

111

193

57.5%

1.12E-05

NRAS

1

4

25.0%

2.01E-05

FBXW7

28

181

15.5%

7.20E-07

CTNNB1

1

9

11.1%

2.71E-06

WT1

1

14

7.1%

1.50E-06

T & NK-Cell Lymphoma

DDX3X

3

6

50.0%

1.60E-05

TP53

114

280

40.7%

2.13E-05

JAK3

25

71

35.2%

1.51E-05

BCOR

7

31

22.6%

1.79E-06

CTNNB1

35

155

22.6%

5.51E-06

KIT

29

158

18.4%

2.22E-06

KMT2C

5

31

16.1%

5.35E-07

AMER1

4

31

12.9%

6.26E-06

RHOA

3

26

11.5%

2.18E-06

STAT3

10

89

11.2%

1.49E-06

Neurons & Glia

Glioma

TP53

3,419

7,632

44.8%

2.34E-05

TERT

3,252

7,425

43.8%

1.03E-05

TTN

591

1,621

36.5%

1.30E-06

IDH1

6,930

19,128

36.2%

1.92E-05

ATRX

539

2,287

23.6%

8.38E-07

MUC16

246

1,349

18.2%

1.13E-06

H3F3A

532

3,146

16.9%

1.82E-05

CDKN2A

812

5,136

15.8%

5.79E-06

PTEN

783

5,022

15.6%

1.44E-06

CIC

247

2,034

12.1%

4.45E-06

EGFR

406

3,348

12.1%

6.44E-07

PIK3CA

316

2,961

10.7%

1.16E-06

Meningioma

NF2

508

1,518

33.5%

3.52E-06

TRAF7

107

378

28.3%

1.26E-05

KLF4

60

373

16.1%

3.30E-05

AKT1

111

1,429

7.8%

2.94E-06

TTN

5

65

7.7%

2.73E-07

CDKN2A

18

255

7.1%

2.59E-06

TERT

22

475

4.6%

1.09E-06

SMO

15

431

3.5%

1.41E-06

SMARCB1

7

279

2.5%

5.27E-07

TP53

5

226

2.2%

1.16E-06

Nerve Sheath Tumors

NF2

285

664

42.9%

4.52E-06

NF1

244

650

37.5%

1.33E-06

CDKN2A

27

201

13.4%

4.92E-06

TP53

33

316

10.4%

5.45E-06

TERT

5

108

4.6%

1.09E-06

SMARCB1

2

47

4.3%

8.94E-07

PDGFRA

2

99

2.0%

2.92E-07

BRAF

2

214

0.9%

4.55E-08

Neuroblastoma

ALK

364

4,473

8.1%

1.12E-07

MUC16

27

387

7.0%

4.32E-07

TTN

23

387

5.9%

2.11E-07

FLG

11

387

2.8%

1.23E-06

LRP1B

10

387

2.6%

1.36E-08

RYR1

10

387

2.6%

1.68E-07

AHNAK

9

387

2.3%

2.05E-07

AHNAK2

9

387

2.3%

5.66E-07

HMCN1

9

387

2.3%

5.10E-08

MUC17

9

387

2.3%

6.00E-07

MUC4

9

387

2.3%

3.57E-07

ARID1A

9

472

1.9%

2.22E-07

Vascular Endothelial Cells

Angiosarcoma

TP53

28

111

25.2%

1.32E-05

PTPRB

10

43

23.3%

1.93E-06

KRAS

27

118

22.9%

4.84E-06

CASP8

2

13

15.4%

2.83E-06

DNAH8

2

13

15.4%

4.88E-07

KDM6A

2

13

15.4%

6.43E-07

PCLO

2

13

15.4%

3.75E-07

TTN

2

13

15.4%

5.47E-07

PLCG1

7

48

14.6%

3.82E-06

KIAA0825

1

13

7.7%

1.64E-07

TMPRSS6

1

13

7.7%

1.74E-06

KDR

6

99

6.1%

1.28E-06

 

 

References:

[1] Patrick, A.D. & Patrick, B.E., Carbon 14 Decay as a Source of Somatic Point Mutations in Genes Correlated with Cancer Diagnoses, Stable Isotope Foundation, Grants Pass, OR (2017).

[2] Forbes, S.A., et al. Catalog of somatic mutations in cancer (COSMIC): exploring the world's knowledge of somatic mutations in human cancer, Nucleic Acids Res. 43:D805-11 (2014).

[3] Catalog of somatic mutations in cancer (COSMIC) genome screens and complete targeted screens mutant exports, version 80, dated 13 February 2017.

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