Table 1.
Most frequently mutated homologous recombination-related in primary CRCs
| MSS tumours (n = 143) |
MSI tumours (n = 33) |
||||
|---|---|---|---|---|---|
| Gene | Frequency1 (%) | Truncating2 (%) | Gene | Frequency (%) | Truncating (%) |
| ATM | 10 (7) | 3 (2) | MSH3 | 20 (61) | 20 (61) |
| PTEN | 7 (5) | 1 (0.7) | ATR | 16 (48) | 13 (39) |
| BRCA2 | 6 (4) | 1 | BRCA2 | 11 (33) | 8 (24) |
| MSH3 | 4 (3) | 0 | G2E3 | 11 (33) | 10 (30) |
| SMARCA2 | 3 (2) | 1 | TOP3A | 11 (33) | 5 (15) |
| REV3L | 3 (2) | 1 | REV3L | 9 (27) | 8 (24) |
| SLX4 | 3 | 1 | SMARCA2 | 9 (27) | 1 (3) |
| DNMT3A | 3 | 0 | BLM | 9 (27) | 7 (21) |
| MUS81 | 3 | 0 | TOP2B | 9 (27) | 4 (12) |
| POLK | 3 | 0 | SHPRH | 8 (24) | 6 (18) |
| C1orf86 | 3 | 0 | ATM | 8 (24) | 5 (15) |
| DNASE1L2 | 3 | 0 | TP53BP1 | 7 (21) | 1 (3) |
1
Number of tumours with any non-silent mutation
2
Nonsense and frameshift mutations