Table 3.
A summary of the associations we found with elevated somatic mutation burden in individual gene sets using a pan-cancer approach
| Gene set | Number of patients with PGV | Additional clonal nonsynonymous mutations per MB | p value | Adjusted p value |
|---|---|---|---|---|
| Degradation of β-catenin by the destruction complex | 5 | 32.51 | 7.907E-09 | 8.223E-07 |
| β-catenin phosphorylation cascade, disassembly of the destruction complex and recruitment of axin to the membrane, signaling by WNT in cancer, phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex | 5 | 32.51 | 7.907E-09 | 8.223E-07 |
| Ovarian tumor domain proteases | 22 | 13.70 | 3.466E-07 | 2.403E-05 |
| Deactivation of the β-catenin transactivating complex | 7 | 22.42 | 2.517E-06 | 1.309E-04 |
| Programmed cell death | 28 | 11.03 | 3.729E-06 | 1.551E-04 |
| Regulation of kit signalling | 5 | 23.99 | 2.086E-05 | 7.231E-04 |
| Apoptotic cleavage of cellular proteins, apoptotic execution phase | 11 | 14.55 | 1.299E-04 | 3.378E-03 |
| Signaling by WNT, TCF-dependent signaling in response to WNT | 10 | 15.31 | 1.241E-04 | 3.378E-03 |
| Mitochondrial protein import, gluconeogenesis, glucose metabolism, aspartate and asparagine metabolism, protein localization | 17 | 11.46 | 1.938E-04 | 4.480E-03 |
| Disease | 211 | 3.17 | 2.993E-04 | 6.226E-03 |
| Mismatch repair | 63 | 5.63 | 4.116E-04 | 7.782E-03 |
| Diseases of mismatch repair (MMR) | 62 | 5.62 | 4.615E-04 | 7.999E-03 |