Table 2.
Prevalence and penetrance of BRCA1, BRCA2, ATM, CHEK2, and PALB2 PVs
| Affected genea | Prevalence, AS 508 | Prevalence, AS 551 | Prevalence, total | Penetranceb |
|---|---|---|---|---|
| N = 4,517 | N = 8,440 | N = 12,957 | N = 12,957 | |
| n (%) | n (%) | n (%) | OR (95% CI) | |
| BRCA1 | 8 (0.18) | 26 (0.31) | 34 (0.26) | 4.87 (2.11–13.60) |
| BRCA2 | 23 (0.51) | 39 (0.46) | 62 (0.48) | 4.71 (2.57–9.41) |
| ATM | 27 (0.60) | 38 (0.45) | 65 (0.50) | 2.24 (1.34–3.87) |
| CHEK2 c | 20 (0.44) | 73 (0.86) | 93 (0.72) | 2.05 (1.34–3.21) |
| PALB2 | 16 (0.35) | 17 (0.20) | 33 (0.25) | 6.94 (2.83–21.76) |
a
Three participants had PVs in two genes: one in BRCA1 and CHEK2, one in BRCA2 and PALB2, and one in CHEK2 and PALB2.
b
Penetrance is expressed as the OR of developing breast cancer among PV carriers vs. participants testing negative using a multivariable logistic regression model controlling for AS (508 vs. 551) and age at enrollment.
c
The difference in the number of CHEK2 PVs between the ASs was due in part to the CHEK2 1100delC variant, a common founder variant in people of European ancestry which was found in 46 participants in AS551 vs. 8 in AS508.