Table 1. Genotype distribution of the two p53 polymorphisms in the BRCA1 and BRCA2 mutation carriers by participating study.
|
Ins16bp N (%)
|
Arg72Pro N (%)
|
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Study | Country of residence | Ascertainment basis | No Ins | No Ins/16bp Ins | 16bpIns | Total | Arg72Arg | Arg72Pro | Pro72Pro | Total |
| CNIO | Spain and Greecea | Clinic | 335 (74.12%) | 105 (23.23%) | 12 (2.65%) | 452 | 281 (56.31%) | 176 (35.27%) | 42 (8.42%) | 499 |
| MBCSG | Italy | Clinic | 190 (65.07%) | 91 (31.16%) | 11 (3.77%) | 292 | 156 (50.81%) | 135 (43.97%) | 16 (5.21%) | 307 |
| DKFZ | Germany, Pakistan, Colombia | Clinic | 128 (74.42%) | 41 (23.84%) | 3 (1.74%) | 172 | 87 (51.18%) | 67 (39.41%) | 16 (9.41%) | 170 |
| GCHBOCb | Germany | Clinic | 593 (75.16%) | 171 (21.67%) | 25 (3.17%) | 789 | 474 (56.97%) | 294 (35.34%) | 64 (7.69%) | 832 |
| HEBCS | Finland | Clinic | 148 (78.72%) | 39 (20.74%) | 1 (0.53%) | 188 | 96 (51.06%) | 79 (42.02%) | 13 (6.91%) | 188 |
| NCI | United States | Clinic | 160 (73.06%) | 56 (25.57%) | 3 (1.37%) | 219 | 96 (50.26%) | 81 (42.41%) | 14 (7.33%) | 191 |
| IHCC | Poland | Clinic | 458 (67.25%) | 202 (29.66% | 21 (3.08%) | 681 | 328 (48.16%) | 289 (42.44%) | 64 (9.40%) | 681 |
| Total | 2012 (72.04%) | 705 (25.24%) | 76 (2.72%) | 2793c | 1518 (52.93%) | 1121 (39.09%) | 229 (7.98%) | 2869 | ||
Abbreviations: GCHBOC=German Consortium of Hereditary Breast and Ovarian Cancer; HWE=Hardy–Weinberg equilibrium.
a
The CNIO series consisted of samples from the Spanish Consortium for the Study of Genetic Modifiers of BRCA1 and BRCA2 and the NCSR Demokritos, Athens (Greece). Cases from the original study were included in the analysis (Osorio et al, 2006).
b
Deviation from HWE with P-values of 0.005 and 0.043 was observed for Ins16bp and Arg72Pro, respectively.
c
Missing genotypes are not included in the totals. Owing to technical difficulties, more failed genotypes were observed for the Ins16bp polymorphism.