Table 3. Distribution of validated variants in signaling pathways.
| Gene | Signaling Pathway | TSG vs. Oncogene | Function | Total # of Variants (n=121) | Total Variant FRQ | Novel Variant n, % |
|---|---|---|---|---|---|---|
| AMER1 | Wnt/β-catenin | TSG | Proliferation, subcellular distribution of APC | 4 | 3% | 1, 1 |
| APC | Wnt/β-catenin | TSG | Proliferation | 33 | 27% | 4, 3 |
| ARID1A | Wnt/β-catenin | TSG | Proliferation | 8 | 7% | 2, 2 |
| BRAF | RTK-RAS | Oncogene | Cell survival, translation, proliferation | 5 | 4% | 1, 1 |
| FBXW7 | Wnt/β-catenin | TSG | Proliferation | 5 | 4% | No |
| KRAS | RTK-RAS | Oncogene | Cell survival, translation, proliferation | 7 | 6% | No |
| MSH3 | Mismatch repair | Suppression of Tumor | Mismatch repair | 14 | 12% | No |
| MSH6 | Mismatch repair | Suppression of Tumor | Mismatch repair | 13 | 11% | 2, 2 |
| MMR (MSH3*, MSH6, MSH2, PMS2, MLH1 | Mismatch repair | Suppression of Tumor | Mismatch repair | 27 | 23% | 2, 2 |
| PIK3CA | PI3K-Akt | Oncogene | Cell survival, translation, proliferation | 7 | 6% | 1, 1 |
| SMAD4 | Wnt/β-catenin | Oncogene | Proliferation | 6 | 5% | 2, 2 |
| SOX9 | Wnt/β-catenin | Oncogene | Proliferation, Self-Renewal of Oncogene Targeted Cells |
3 | 2% | No |
| TCF7L2 | Wnt/β-catenin | Both (TSG/ Oncogene) | Proliferation | 2 | 2% | 1, 1 |
| βR2 | TGF-β (growth factor) | TSG | Proliferation | 6 | 5% | No |
| TP53 | P53 | TSG | Proliferation, Cell survival |
9 | 7% | No |