Table 2.
Molecular profile of O-NI-EFVPTC.
| Case genotyped | RAS and BRAF | Other mutations | Copy number alteration | Mitochondrial DNA mutation |
|---|---|---|---|---|
| 1 | NRAS p.Q61K | GLI p.E316Q | - | MT-CO1 nonsense mutation G6930A MT-ND5 missense mutation T12569C |
| 2 | NRAS p.Q61R | - | - | - |
| 3 | KRAS p.G12D | AURKA p.L159fs | Loss in part of 9 | MT-3’flank T12228C TS2 |
| 4 | KRAS p.Q61R | - | Loss in 21 | MT-TL1 5’ flank A3243G |
| 5 | HRAS p.Q61R | CDKN2C p.D67N | Loss of 22 | MY-CYB missense mutation T15729C |
| 6 | BRAF p.K601E | TET2 p.V1718L MCL1 p.E41A | - | MT-ND1 missense mutation c.G3901A |
| 7 | - | NFE2L2 p.29_32del | Gain of 9p | MT-RNR1 5’flank G709A |
| 8 | - | EZH1 p.Q571R | - | MT-ND4 frame shift deletion A11038- |
| 9 | - | TSHR p.M453T | Gain of 5, 10, 12, 17, 18, 20, 21, X; WCD of 7; Copy neutral LOH in 9 | - |
| 10 | - | - | Gain of 5, 9, 12, 16, 20; WCD of 7; Copy neutral LOH in X | - |
| 11 | - | - | Loss of 2p; balanced gain in 4 | - |
| 12 | - | - | Gain of 4, 12, 18, 21; WCD of 7 | MT-ND2 missense mutation T5412C |
| 13 | - | - | - | MT-ND4 nonsense mutation G11390A |
| 14 | - | - | - | MT-ND4 frame shift insertion −10952C |
| 15 | - | - | - | - |
WCD: whole chromosome duplication, LOH: loss of heterozygosity. Frameshift or nonsense mutations in bold characters.