Table 2.
Impact of different strategies for genetic screening in the entire population
| Genetic Strategy Genetic Component or Family History |
N (% of Population) |
Probability of Being Diagnosed With Breast Cancer at Age 70a | Number of False Negativesb |
N With a Family History Recorded at Any Time (% of Those Identified by Genetic Strategy) |
|---|---|---|---|---|
| BRCA1 + BRCA2 | 159 (0.6%) | 63.1% | 209 | 53 (33.3%) |
| BRCA1 + BRCA2 + PALB2 + (ATM + CHEK2) × top 50% PRS | 298 (1.2%) | 51.1% | 201 | 72 (24.2%) |
| BRCA1 + BRCA2 + PALB2 + ATM + CHEK2 | 410 (1.6%) | 40.4% | 201 | 86 (21.0%) |
| BRCA1 + BRCA2 + PALB2 + ATM + CHEK2 + 10% PRS | 2,909 (11.4%) | 23.2% | 156 | 297 (10.2%) |
| No genetic test. Family History best case scenarioc | 1,772 (6.9%) | 32.9% | 139 | NA |
| No genetic test. Family History worse case scenariod | 1,513 (5.9%) | 9.6% | 207 | NA |
a
Based on Kaplan Meier curves at age 70.
b
False negatives are female participants (out of 25,591) who were diagnosed with breast cancer before age 50 but were not identified by the genetic screening approach.
c
If all women with a FHx-BrCa recorded at any time were ascertained before diagnosis.
d
Only including women with FHx-BrCa recorded in EHR before a BrCa diagnosis.