Table 3 Number and percentage of individuals for whom pathogenic and low penetrance CDKN2A variants were identified
Variant | Australia | Spain1 | UK | Overall | ||
|---|---|---|---|---|---|---|
CDKN2A high penetrance mutation | present | cases | 14 (2.3) | 19 (2.5) | 31 (2.0) | 64 (2.2) |
controls | 0 (0) | 0 (0) | 0 (0) | 0 (0) | ||
wild type | cases | 582 (97.7) | 728 (97.5) | 1555 (98.0) | 2865 (97.8) | |
controls | 476 (100) | 109 (100) | 499 (100) | 1084 (100) | ||
A148T variant | present | cases | 48 (8.1) | 63 (8.4) | 110 (6.9) | 221 (7.6) |
controls | 18 (3.8) | 6 (5.6) | 32 (6.4) | 56 (5.2) | ||
wild type | cases | 548 (91.9) | 684 (91.6) | 1476 (93.1) | 2708 (92.4) | |
controls | 458 (96.2) | 102 (94.4) | 467 (93.6) | 1027 (94.8) | ||
c.*29C > G variant | present | cases | 163 (27.4) | 425 (26.9) | 588 (27.0) | |
controls | 125 (26.7) | 133 (27.4) | 258 (26.8) | |||
wild type | cases | 433 (72.6) | 1155 (73.1) | 1588 (73.0) | ||
controls | 351 (73.7) | 352 (72.6) | 703 (73.2) | |||
c.*69C > T variant | present | cases | 111 (18.6) | 291 (18.4) | 402 (18.5) | |
controls | 485 (81.4) | 1289 (81.6) | 1774 (81.5) | |||
wild type | cases | 78 (16.4) | 98 (20.2) | 176 (18.3) | ||
controls | 398 (83.6) | 387 (79.8) | 785 (81.7) | |||