Breast cancer lifetime risk category change based on the IKNL guideline
| Group | BOADICEA lifetime risk | No gene test result | Non-PV carriers | CHEK2 PV carriers* | ATM PV carriers* | PALB2 PV carriers | ||||||
| Without PRS313 (%) | Including PRS313 (%) | n | % change | n | % change | n | % change | n | % change | n | % change | |
| Cases | <20 | <20 | 697 | 30.4 | 1126 | 30.1 | 3 | 70.0 | NA | NA | ||
| >20 | 305 | 486 | 7 | |||||||||
| 20–30 | 20–30 | 161 | 42.5 | 376 | 43.5 | 27 | 52.6 | 0 | 100.0 | NA | ||
| <20 | 37 | 149 | 4 | 0 | ||||||||
| >30 | 82 | 141 | 26 | 5 | ||||||||
| >30 | >30 | 42 | 14.3 | 65 | 28.6 | 93 | 7.0 | 32 | 5.9 | 10 | 0.0 | |
| <30 | 7 | 26 | 7 | 2 | 0 | |||||||
| Overall change | 32.4 | 33.9 | 26.3 | 17.9 | 0.0 | |||||||
| Upward change | 29.1 | 26.4 | 19.8 | 12.8 | 0.0 | |||||||
| Controls | <20 | <20 | 851 | 4.4 | 2429 | 4.7 | NA | NA | NA | |||
| >20 | 39 | 118 | ||||||||||
| 20–30 | 20–30 | NA | NA | 13 | 58.1 | 4 | 55.6 | NA | ||||
| <20 | 12 | 1 | ||||||||||
| >30 | 6 | 4 | ||||||||||
| >30 | >30 | NA | NA | NA | NA | 7 | 0.0 | |||||
| <30 | 0 | |||||||||||
| Overall change | 4.4 | 4.7 | 58.1 | 55.6 | 0.0 | |||||||
| Upward change | 4.4 | 4.7 | 19.4 | 44.4 | 0.0 | |||||||
In total, 1331 cases and 890 controls were included without a gene test result; 2369 cases and 2537 controls in the non-PV carrier group; 167 cases and 31 controls in the CHEK2 PV carrier group; 39 cases and 9 controls in the ATM PV carrier group; and 10 cases and 7 controls in the PALB2 PV carrier group.
*Two individuals with both a pathogenic variant in CHEK2 and ATM were excluded.
BOADICEA, Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm; IKNL, Netherlands Comprehensive Cancer Organisation; NA, Not Applicable; PRS, Polygenic Risk Score; PV, pathogenic variant.