Table II.
Comparison of TP63 mutations in cutaneous melanomas and in a subset of human EDs.
| Type of mutations | Melanomasa | EDsb | Melanoma vs. EDs (P-value) |
|---|---|---|---|
| No. of mutations | 111 | 101 | |
| Type of mutations | |||
| Frameshift Del/Ins | 1 | 0 | |
| Tandem mutations | 1 | 1 | |
| Splice mutations | 8 | 0 | |
| Single bp substitutions | 101 | 100 | |
| Classes of bp substitutions, n (%) | |||
| AT>CG | 0 (0) | 4 (4) | NS |
| AT>GC | 4 (4) | 9 (9) | NS |
| AT>TA | 3 (3) | 3 (3) | NS |
| GC>AT | 92 (91) | 76 (76) | <0.0005 |
| GC>CG | 1 (1) | 3 (3) | NS |
| GC>TA | 1 (1) | 5 (5) | NS |
| Localization at CpGs, n/total (%) | 37/101 (37) | 74/100 (74) | <0.0001 |
| Localization at PyPy, n/total (%) | 98/101 (97) | 70/100 (70) | <0.0001 |
a
Data From cBioPortal for Cancer Genomics for cutaneous melanomas
b
reconstruction of 101 base pair substitutions found in EDs according to literature. EDs, ectodermal dysplasia syndromes; PyPy, pyrimidines; NS, not significant.