Univariate analysis showing the independent association between each clinical feature and a germline CDKN2A mutation
| Features | Total (n=1227) | CDKN2A wild type (n=1059) | CDKN2A mutation (n=168) | OR* | 95% CI | P values |
| No of family members with melanoma† | ||||||
| 1 | 374 | 346 | 28 (7.5%) | 1.0 | – | – |
| 2 | 503 | 461 | 42 (8.3%) | 1.1 | 0.7 to 1.9 | 0.641 |
| 3 | 233 | 194 | 39 (16.7%) | 2.5 | 1.5 to 4.2 | <0.001 |
| ≥4 | 117 | 58 | 59 (50.4%) | 12.6 | 7.4 to 21.3 | <0.001 |
| No of family members with MPMs† | ||||||
| 0 | 749 | 697 | 52 (6.9%) | 1.0 | – | – |
| 1 | 406 | 329 | 77 (19.0%) | 3.1 | 2.2 to 4.6 | <0.001 |
| ≥2 | 72 | 33 | 39 (54.2%) | 15.8 | 9.2 to 27.3 | <0.001 |
| Median age at primary diagnosis | ||||||
| ≥50 years | 437 | 422 | 15 (3.4%) | 1.0 | – | – |
| 30–50 years | 666 | 532 | 134 (20.1%) | 7.1 | 4.1 to 12.3 | <0.001 |
| <30 years | 124 | 105 | 19 (15.3%) | 5.1 | 2.5 to 10.4 | <0.001 |
| Presence of pancreatic cancer‡ | ||||||
| No | 956 | 877 | 79 (8.3%) | 1.0 | – | – |
| Yes | 271 | 182 | 89 (32.8%) | 5.4 | 3.9 to 7.6 | <0.001 |
| Presence of upper airway cancer‡ | ||||||
| No | 1117 | 999 | 118 (10.6%) | 1.0 | – | – |
| Yes | 110 | 60 | 50 (45.5%) | 7.1 | 4.6 to 10.7 | <0.001 |
*The variable with the smallest risk was defined as baseline with an OR of 1.0, and ORs for the other variables were calculated against this baseline value.
†First-degree and second-degree relatives of each other, including the index patient.
‡First-degree and second-degree relatives of the index patient and first-degree relatives of patients with melanoma.
MPMs, multiple primary melanomas.