Frequency of derived genotypes and estimate of penetrance
| Individuals | Kindreds | |||||
|---|---|---|---|---|---|---|
| All (n = 30) | One proband (n = 22) | Multiple probands (n = 8) | ||||
| Tested positive for the R337H TP53 | 240 | 153 | 87 | |||
| Probands (cases of ACC) | 40 | 22 | 18 | |||
| Relatives | 200 | 131 | 69 | |||
| Parents | 37 | 21 | 16 | |||
| Grandparents | 8 | 5 | 3 | |||
| Tested negative for the R337H TP53 | 455 | 314 | 141 | |||
| Parents | 37 | 21 | 16 | |||
| Grandparents | 8 | 5 | 3 | |||
| Frequency of the R337H TP53 | 34.5% (240/695) | 33% (153/467) | 38% (87/228) | |||
| Not tested | 281 | 226 | 55 | |||
| Positive cases derived from pedigrees | 35 | 20 | 15 | |||
| Proband (ACC case) | 1 | 1 | ||||
| Parent | 1 | 1 | ||||
| Relatives | 33 | 20 | 13 | |||
| Derived penetrance (95% confidence interval) | 9.9% (8.7, 11.1) | 8.5% (7.3, 9.7) | 12.5% (10.2, 14.6) | |||