Table I.
Types and frequencies of genetic alterations of top 19 basal cell carcinoma (BCC) genes
| Gene name | Alterations (A+B+C+D) (%) |
Non-synonymous (A) (%) |
Stop-gain (B) (%) |
CN gain (C) (%) |
CN loss (D) (%) |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Low-risk | High-risk | Total | Low-risk | High-risk | Total | Low-risk | High-risk | Total | Low-risk | High-risk | Total | Low-risk | High-risk | |
| LRP1B | 50 | 46.67 | 60 | 50 | 46.67 | 60 | – | – | – | – | – | – | – | – | – |
| SMO | 50 | 53.33 | 40 | 40 | 46.67 | 20 | – | – | – | 10 | 6.67 | 20 | – | – | – |
| TP53 | 45 | 46.67 | 40 | 35 | 40 | 20 | 20 | 20 | 20 | – | – | – | – | – | – |
| KDR | 45 | 46.67 | 40 | 40 | 46.67 | 20 | – | – | – | – | – | – | 5 | – | 20 |
| ROS1 | 40 | 33.33 | 60 | 35 | 26.67 | 60 | – | – | – | 20 | 26.67 | – | – | – | – |
| KMT2D | 40 | 46.67 | 20 | 20 | 26.67 | – | 30 | 33.33 | 20 | – | – | – | – | – | – |
| PTCH1 | 40 | 33.33 | 60 | 10 | 6.67 | 20 | 30 | 26.67 | 40 | – | – | – | 5 | – | 20 |
| FAT4 | 30 | 33.33 | 20 | 20 | 26.67 | – | 5 | 6.67 | – | – | – | – | 5 | – | 20 |
| FAT1 | 30 | 33.33 | 20 | 25 | 33.33 | – | – | – | – | – | – | – | 5 | – | 20 |
| NSD1 | 30 | 26.67 | 40 | 25 | 20 | 40 | – | – | – | 5 | 6.67 | – | – | – | – |
| KMT2C | 30 | 26.67 | 40 | 20 | 20 | 20 | – | – | – | 10 | 6.67 | 20 | – | – | – |
| GRIN2A | 25 | 33.33 | – | 25 | 33.33 | – | 5 | 6.67 | – | – | – | – | – | – | – |
| ARID1A | 25 | 20 | 40 | 15 | 13.33 | 20 | 10 | 6.67 | 20 | – | – | – | – | – | – |
| NOTCH2 | 25 | 26.67 | 20 | 20 | 26.67 | – | – | – | – | – | – | – | 5 | – | 20 |
| PED4DIP | 15 | 13.33 | 20 | 15 | 13.33 | 20 | – | – | – | – | – | – | – | – | – |
| ERBB4 | 15 | 20 | – | 15 | 20 | – | – | – | – | – | – | – | – | – | – |
| TET1 | 10 | 6.67 | 20 | 10 | 6.67 | 20 | – | – | – | – | – | – | – | – | – |
| PREX2 | 10 | 6.67 | 20 | 10 | 6.67 | 20 | – | – | – | – | – | – | – | – | – |
| ZFHX3 | 10 | 6.67 | 20 | 10 | 6.67 | 20 | – | – | – | – | – | – | – | – | – |
Genetic alteration (non-synonymous mutation, stop-gain mutation, copy number gain, copy number loss) frequencies of each gene among total 20 BCCs, 15 low-risk BCCs, and 5 high-risk BCCs are shown.