Table 1 Genes with validated somatic hotspot mutations
From: Identification of 33 candidate oncogenes by screening for base-specific 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 |
