TABLE 1. CDKN2A/CDK4 mutations detected in 17 Greek melanoma patients.
| Gene | Site | Nucleotide position | Effect on p16/ARF |
CDKN2A/CDK4 Mutations (n=17) |
|---|---|---|---|---|
| CDKN2A | Exon 1α |
−34G>C* |
Not known/ Presumably none |
1 SPM |
| CDKN2A | Exon 1α |
−25C>T |
Not known/ Presumably none |
1 SPM |
| CDKN2A | Exon 1α |
c.71G>C | p.R24P/none | 5 SPM 3 MPM |
| CDKN2A | Exon 1α |
c.41- 43delinsCCGTGGCTGGCCACGGCCAC* |
Frameshift | 1 MPM+FM |
| CDKN2A | Exon 2 | c.259C>T | p.R87W/p.P142L | 1 SPM |
| CDKN2A | Exon 2 | c.301G>C* | p.G101R/p.R156P | 1 FM |
| CDKN2A | Exon 2 | c.302G>A* | p.G101E/none | 1 SPM |
| CDKN2A | Exon 2 | c.330G>A | p.W110X/p.G125R | 1 MPM |
| CDKN2A | Exon 2 | c.296_297insGACC* | Frameshift | 1 SPM |
| CDK4 | Exon2 | c.71G->A | p.R24H (Cdk4) | 1 FM |
*
Novel mutations