Table 2 CDKN2A variants among individuals with family history, patients with multiple primary CM, and healthy controls
From: Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families
| Â | Â | Â | POSITIVE CASES | |||||
|---|---|---|---|---|---|---|---|---|
Location | CDKN2A nucletide change | Aminoacid change | Pts with family history (28) | Healthy relatives (7) | Families (25) | Pts with multiple primary only (26) | Children (3) | Healthy controls (54) |
Exon 1α | 68G > A | G23D | 2 | 1 | 2 | 0 | 0 | 0 |
Exon 1α | 71G > C | R24P | 1 | 1 | 1 | 0 | 0 | 0 |
Exon 1β | 69C > T | F23F | 0 | 0 | 0 | 0 | 0 | 1 |
Exon 2 | 250G > A | D84N | 0 | 0 | 0 | 1 | 0 | 0 |
Exon 2 | 281T > A | L94Q | 3 | 2 | 1 | 0 | 0 | 0 |
Exon 2 | 301G > T | G101W | 2 | 0 | 2 | 0 | 0 | 0 |
Exon 2 | 442G > A | A148T | 1 | 0 | 1 | 2 | 0 | 1 |
Exon 2 | 459C > A | D153E | 0 | 0 | 0 | 0 | 0 | 1 |
Intron 1 | IVS1-1G > A | Â | 1 | 0 | 1 | 0 | 0 | 0 |