Table 3.
Records of the cosine similarity between the three mutational signatures extracted from each group from the MAF files and the three most similar COSMIC mutational signatures
| SBS best match | Aetiology | Cosine similarity | |
|---|---|---|---|
| HM | |||
| Signature 1 | SBS44 | Defective DNA mismatch repair | 0.81 |
| Signature 2 | SBS10b | Polymerase epsilon exonuclease domain mutations | 0.78 |
| Signature 3 | SBS6 | Defective DNA mismatch repair | 0.90 |
| HM-like | |||
| Signature 1 | SBS1 | Spontaneous or enzymatic deamination of 5-methylcytosine | 0.94 |
| Signature 2 | SBS30 | Deficiency in base excision repair due to inactivating mutations in NTHL1 | 0.83 |
| Signature 3 | SBS6 | Defective DNA mismatch repair | 0.93 |
| Non-HM | |||
| Signature 1 | SBS1 | Spontaneous or enzymatic deamination of 5-methylcytosine | 0.96 |
| Signature 2 | SBS40 | Unknown | 0.89 |
| Signature 3 | SBS6 | Defective DNA mismatch repair | 0.77 |
In the table are reported the best matches between the three mutational signatures extracted from the three groups and the COSMIC SBS Signatures database