Table 1. Genes with validated somatic hotspot mutations.
| |
|
|
|
Discovery set |
Validation set |
|
||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Genome position | cDNA change | Protein change | n out of 25 | % | Finnish n=167 (%) | Danish n=87 (%) | Total n=254 | % | COSMIC |
|
BRAF |
chr7:140453136 |
c.1799T>A |
Val600Glu |
8 |
32 |
68/167 (41) |
36/82 (44) |
104/249 |
42 |
COSM476 |
|
KRAS |
chr12:25398285-4,25398282 |
c.34G–5G, c.37G>T |
Gly12/Gly13Asp |
1 |
4 |
25/165 (15) |
13/82 (16) |
38/247 |
15 |
See COSMIC database |
|
PIK3CA ex20 |
chr3:178952085 |
c.3140A>G |
His1047Arg |
2 |
8 |
15/139 (11) |
7/68 (10) |
22/207 |
11 |
COSM775 |
|
PIK3CA ex9 |
chr3:178936082-3/178936091-2/178936094-6 |
c.1624G–5A/c.1633G–4A/c.1636C–8G |
Glu542/Glu545/Gln546 |
3 |
12 |
8/137 (6) |
4/80 (5) |
12/217 |
5.5 |
See COSMIC database |
|
CTNNB1 |
chr3:41266124 |
c.121A>G |
Thr41Ala |
2 |
8 |
11/140 (7.9) |
4/76 (5.3) |
15a/216 |
6.9 |
COSM5664 |
|
ANTXR1 |
chr2:69409751 |
c.1312C>T |
Arg438Cys |
3 |
12 |
4/165 (2.4) |
3/86 (3.5) |
7/251 |
2.8 |
COSM1641964 |
|
CEP135 |
chr4:56890689 |
c.3343C>T |
Arg1115Cys |
2 |
8 |
2/165 (1.2) |
1/80 (1.3) |
3/245 |
1.2 |
|
|
CRYBB1 |
chr22:26997907 |
c.511G>A |
Ala171Thr |
2 |
8 |
1/163 (0.6) |
2/85 (2.4) |
3/248 |
1.2 |
|
|
MORC2 |
chr22:31345795/31345789 |
c.74C>T/c.80A>T |
Ser25Leu/Lys27Met |
3b |
12 |
2c/163 (1.2) |
0/81 (0) |
2/244 |
0.8 |
COSM184853 (Lys27Arg) |
|
SLC36A1 |
chr5:150844717 |
c.406G>A |
Ala136Thr |
3 |
12 |
2/166 (1.2) |
0/87 (0) |
2/253 |
0.8 |
COSM420825 |
|
GALNT9 |
chr12:132688193 |
c.22C>T |
Arg8Cys |
2 |
8 |
2d/165 (1.2) |
0/73 (0) |
2/238 |
0.8 |
|
|
PI15 |
chr8:75756256 |
c.314C>T |
Ala105Val |
2 |
8 |
1e/161 (0.6) |
1/86 (1.2) |
2/247 |
0.8 |
|
|
KRT82 |
chr12:52788815 |
c.1486C>T |
Arg496Trp |
2 |
8 |
0/165 (0) |
1/87 (1.1) |
1/252 |
0.4 |
COSM468531 |
|
CNTF |
chr11:58390329 |
c.104C>T |
Thr35Met |
2 |
8 |
0/164 (0) |
1/87 (1.1) |
1/251 |
0.4 |
|
|
GLDC |
chr9:6556244 |
c.2885G>A |
Arg962Gln |
2 |
8 |
0/164 (0) |
1/85 (1.2) |
1/249 |
0.4 |
|
|
MBTPS1 |
chr16:84120995 |
c.1102G>A |
Ala368Thr |
2 |
8 |
1/166 (0.6) |
0/87 (0) |
1/253 |
0.4 |
|
|
OR9Q2 |
chr11:57958707 |
c.745G>A |
Ala249Thr |
2 |
8 |
1/165 (0.6) |
0/86 (0) |
1/251 |
0.4 |
COSM1218891 |
|
R3HDM1 |
chr2:136393737 |
c.887G>A |
Arg296Gln |
2 |
8 |
1/165 (0.6) |
0/86 (0) |
1/251 |
0.4 |
|
| TTPAL | chr20:43109078 | c.439C>T | Arg147Cys | 2 | 8 | 1/166 (0.6) | 0/86 (0) | 1/252 | 0.4 | COSM32271 |
a
7 × Ser45Pro/Ser45Phe.
b
2 × Ser25Leu, 1 × Lys27Met.
c
Lys27Arg, Ser25Leu.
d
1 × Arg8Ser, 1 × Arg8His.
e
Ala105Thr.