Table 2.
Most common mutations in ccRCC in Cohorts One and Two
| Genes | Cohort One | |||||||
|---|---|---|---|---|---|---|---|---|
| All Samples (N = 578) | Primary tumours (N = 349) | Metastases (N = 229) | p-value | q-value (BH) | ||||
| N | % | n | % | n | % | |||
| VHL | 386 | 66.78 | 261 | 74.79 | 170 | 74.24 | 0.92 | 1 |
| PBRM1 | 242 | 41.87 | 136 | 39.19 | 106 | 47.11 | 0.09 | 0.41 |
| SETD2 | 145 | 24.7 | 88 | 25.36 | 57 | 25.33 | 1 | 1 |
| BAP1 | 80 | 13.8 | 50 | 14.33 | 30 | 13.1 | 0.71 | 1 |
| KDM5C | 75 | 12.97 | 40 | 11.53 | 35 | 15.56 | 0.21 | 0.63 |
| PTEN | 79 | 13.67 | 44 | 12.61 | 35 | 15.28 | 0.39 | 0.88 |
| TP53 | 65 | 6.06 | 31 | 8.88 | 34 | 14.85 | 0.03 | 0.21 |
| TSC1 | 39 | 6.75 | 23 | 6.59 | 16 | 6.99 | 0.87 | 1 |
| TET2 | 29 | 5.02 | 18 | 5.16 | 11 | 4.8 | 1 | 1 |
| Genes | Cohort Two | |||||||
|---|---|---|---|---|---|---|---|---|
| All Samples (N = 257) | Primary tumours (N = 177) | Metastases (N = 80) | p-value | q-value (BH) | ||||
| N | % | n | % | n | % | |||
| VHL | 187 | 125 | 70.62 | 62 | 77.5 | 0.23 | 0.41 | |
| PBRM1 | 76 | 29.57 | 50 | 28.25 | 26 | 32.5 | 0.56 | 0.72 |
| SETD2 | 79 | 30.74 | 54 | 30.51 | 25 | 31.25 | 1 | 1 |
| BAP1 | 35 | 13.62 | 24 | 13.56 | 11 | 13.75 | 1 | 1 |
| KDM5C | 19 | 7.39 | 9 | 5.08 | 10 | 12.5 | 0.15 | 0.41 |
| PTEN | 20 | 7.78 | 12 | 6.8 | 8 | 10 | 0.18 | 0.41 |
| TP53 | 36 | 14.01 | 23 | 12.99 | 13 | 16.25 | 0.56 | 0.72 |
| TSC1 | 17 | 6.61 | 9 | 5.08 | 8 | 10 | 0.18 | 0.41 |
| TET2 | 20 | 7.78 | 10 | 5.65 | 10 | 12.5 | 0.08 | 0.41 |
Number and frequency of mutations observed across primary tumours and metastases in cohort one and two. P-values are calculated using fisher exact test and corrected using Benjamini-Hochberg.