Table 2.
Actionable and investigational genomic alterations detected by Ion AmpliSeq Cancer Panel* among 23 cases
| Tumour type | Ion AmpliSeq Cancer Panel actionable and investigational genomic alterations | |||||
|---|---|---|---|---|---|---|
| Gene | n (%) | Exon | Protein | cDNA | Mutation type | |
| Adenocarcinoma (n = 18) | KRAS | 8 (44.4%) | 2 | p.G12C (4) p.G12V (3) p.G13D (1) |
c.G34T (4) c.G35T (3) c.G38A (1) |
SNV missense |
| EGFR | 2 (11.1%) | 21 20 |
p.L858R p.G779C |
c.T2573G c.G2335T |
SNV missense | |
| FBXW7 | 2 (11.1%) | 10 7 |
p.L459V p.T267K |
c.T1375G c.C800A |
SNV missense | |
| CDKN2A | 1 (5.5%) | 2 | p.P81S | c.C241T | SNV missense | |
| APC | 3 (16.6%) | 14 | p.E1299Q p.T1538fs |
c.G3895C (2) c.4613_4614insA (1) |
SNV missense (2) Insertion (1) |
|
| ATM | 3 (16.6%) | 17 9 50 |
p.F858L p.V410A p.E2446* |
c.T2572C c.T1229C c.7335_7336TT |
SNV missense (2) Substitution (1) |
|
| MET | 2 (11.1%) | 14 | p.T992I | c.C2975T | Splice (1) Missense (1) |
|
| SMAD4 | 1 (5.5%) | 12 | p.I525V | c.A1573G | SNV missense | |
| JAK3 | 1 (5.5%) | 16 | p.V722I | c.G2164A | SNV missense | |
| PDGFRA | 1 (5.5%) | 15 | p.H687R | c.A2060G | SNV missense | |
| PTEN | 1 (5.5%) | 6 | p.R173L | c.G518T | SNV missense | |
| Squamous cell carcinoma (n = 3) | HRAS | 1 (33.3%) | 3 | p.Q61K | c.181A | SNV missense |
| AKT1 |
1 (33.3%) |
3 |
p.E17K |
c. G49A |
SNV missense |
|
| KRAS | 1 (33.3%) | 2 | p.G12D | c.G35A | SNV missense | |
| Adenosquamous carcinoma (n = 2) | KRAS | 1 (50%) | 2 | p.G12D | c.G35A | SNV missense |
| ATM |
1 (50%) |
9 |
p.V410A |
c.T1229C |
SNV missense |
|
| KIT | 1 (50%) | 18 | p.S850I | c.G2549T | SNV missense | |
*
Ion Torrent, Life Technologies, Thermo Fisher Scientific, Waltham, Massachusetts.