Table I.
Overview of the somatic mutations in cutaneous squamous cell carcinomas of patients with recessive dystrophic epidermolysis bullosa
| Patient 1 (hand) | Patient 2 (forearm) | Patient 2 (foot) | |
|---|---|---|---|
| Total mutation, n | 236 | 128 | 79 |
| Mutation rate (Mbp) | 10.04 | 8.62 | 3.51 |
| Mutated genes and mutations (protein level) | |||
| EGFR | – | – | – |
| HRAS | G12C | – | – |
| NOTCH1 | S1708fs, C416G | – | Q1810* |
| FAT1 | Q961* | – | N3676fs |
| TP53 | – | G325*, Q204* | Q60* |
| CASP8 | S3375F | – | – |
| FGFR3 | V431M | – | – |
| KMT2B | R1138fs | C1447*, V1173fs | C2705fs |
| CTCF | R342C | – | – |
| SPEN | S646F | – | – |
| ARID2 | – | Q1676* | – |
| Mutational signatures | |||
| UV | Signature 7 71% | Signature 7 22% | Signature 13 39% |
| APOBEC | Signature 11 29% | Signature 11 12% | Signature 2 29% |
| alkylating agents | Signature 2 10% | Signature 7 17% | |
| Tobacco | Signature 13 9% | Signature 29 14% | |
| Signature 4 9% | |||
–: none; fs: frameshift; *stop codon. Mbp: mega base pairs; UV, ultraviolet.