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.