Table II.
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 |
Data From cBioPortal for Cancer Genomics for cutaneous melanomas
reconstruction of 101 base pair substitutions found in EDs according to literature. EDs, ectodermal dysplasia syndromes; PyPy, pyrimidines; NS, not significant.