Table 4. Patient tumours with mutations in actionable pathways as detected by Illumina MiSeq (n=85).
| Tumour type; any mutation detected (%) | COSMIC-described mutations (%) | DNA repair | RAS-RAF-MEK | PI3K/AKT-mTOR | Wnt signalling | KIT | Angiogenesis | MET | FGFR | ERBB signalling | Actionable mutations (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Ovarian/peritoneal 20 out of 21 (95) |
19 (90) |
52% |
38% |
29% |
5% |
10% |
— |
5% |
— |
— |
18 (86) |
| Colorectal 19 out of 19 (100) |
19 (100) |
79% |
68% |
32% |
74% |
— |
16% |
5% |
11% |
16% |
19 (100) |
| Breast 7 out of 7 (100) |
7 (100) |
71% |
14% |
29% |
14% |
— |
14% |
— |
— |
14% |
7 (100) |
| Bladder 4 out of 5 (80) |
3 (60) |
40% |
20% |
20% |
20% |
20% |
— |
— |
— |
— |
3 (60) |
| Pleural 2 out of 4 (50) |
1 (25) |
— |
— |
25% |
— |
— |
— |
— |
— |
— |
1 (25) |
| Sarcoma 2 out of 5 (40) |
1 (20) |
20% |
— |
— |
20% |
— |
— |
— |
— |
— |
1 (20) |
| Cervical 2 out of 4 (50) |
2 (50) |
25% |
50% |
25% |
25% |
— |
— |
— |
— |
— |
2 (50) |
| Head and neck 3 out of 3 (100) |
3 (100) |
33% |
33% |
33% |
— |
— |
— |
— |
— |
— |
2 (66) |
| Lung 3 out of 3 (100) |
3 (100) |
67% |
67% |
33% |
— |
— |
— |
— |
— |
— |
3 (100) |
| Other primary 8 out of 14 (57) |
7 (50) |
36% |
14% |
7% |
21% |
— |
14% |
— |
— |
7% |
7 (50) |
| Total 70 out of 85 (82) | 65 (76) | 63 patients (74%) with ‘actionable', COSMIC-described mutation | |||||||||
Abbreviations: COSMIC=Catalogue of Somatic Mutations in Cancer; QC=quality control. Mutations described in COSMIC and potentially targetable by a drug in early-phase trials were considered ‘actionable'. Values above represent % of samples analysed which harboured a mutation known to impact the pathways described.