Table 1.
Frequency of potential driver mutations (PDMs) in the selected genes, and their co-occurrence in carotid body tumor (CBT) samples
| Gene | Frequency of samples with mutations, % | Associations with mutations in the other genes |
|---|---|---|
| SDHD | 13.5 | RET, KMT2D, IDH1 |
| IDH1 | 7.7 | SDHB, SDHD, TP53BP1, TP53BP2, TP53I13 |
| SDHB | 7.7 | IDH1, FGFR3, TP53I13, KMT2D |
| ARNT | 5.8 | BRAF, TP53BP1 |
| SDHC | 5.8 | SDHC , SETD2,MEN1 |
| KMT2D | 5.8 | SDHD, SDHB, FGFR3 |
| TP53BP1 | 5.8 | ARNT, BRAF, IDH1 |
| TP53BP2 | 3.8 | TP53BP2 , IDH1 |
| TP53I13 | 3.8 | IDH1, SDHB |
| RET | 3.8 | SDHD |
| KIF1B | 3.8 | BAP1 |
| CDKN2A | 1.9 | – |
| BRAF | 1.9 | ARNT, TP53BP1 |
| BRCA2 | 1.9 | CSDE1 |
| BAP1 | 1.9 | KIF1B |
| CSDE1 | 1.9 | BRCA2 |
| SETD2 | 1.9 | SDHC |
| MEN1 | 1.9 | SDHC |
| FGFR3 | 1.9 | SDHB, KMT2D |
| BRCA1 | 1.9 | – |
| SDHA | 1.9 | – |
Genes which have two mutations in one sample are indicated with bold