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 | – |