Table 2.
List of chRCC associated gene mutations
| Gene | Location | Gene Type | Type of Mutation |
|---|---|---|---|
| TP53 | 17p13.1 | Tumor suppressor gene | Heterozygous copy loss, somatic mutation (32%) |
| PTEN | 10q23.31 | Tumor suppressor gene | Heterozygous copy loss, non-silent mutation |
| MTOR | 1p36.22 | Oncogene | Heterozygous copy loss, somatic mutation (3%) |
| NRAS | 1p13.2 | Oncogene | Heterozygous copy loss, somatic mutation (1,5%) |
| TSC1 | 9q34.13 | Tumor suppressor gene | Heterozygous copy loss, somatic mutation (3%) |
| TSC2 | 16p13.3 | Tumor suppressor gene | Heterozygous copy loss, somatic mutation (3%) |
| HER1 (EGFR) | 7p11.2 | Oncogene | Chromosomal rearrangements due to insertion of an undefined gene |
| HER2 (ERBB2) | 17q12 | Oncogene | Deletion |
| HER3 | 12q13.2 | Oncogene | Chromosomal rearrangements due to insertion of an undefined gene |
| MT-ND5 | Mitochondrial DNA | Mitochondrial gene | High heteroplasmy |