Table 2.
Comparison of risk group categorization between the life-time breast cancer risk calculation including family history and mutation status (FH), the calculation also including PRS311 (FH + PRS), and the calculation including questionnaire-based risk factors and PRS (FH + QRF + PRS).
|
Lifetime breast cancer risk |
FH |
FH + PRS |
FH + PRS + QRF† |
|||
|---|---|---|---|---|---|---|
| CHEK2 | non-CHEK2 | CHEK2 | non-CHEK2 | CHEK2 | non-CHEK2 | |
| ≤20 % | 0 | 30 | 5 | 31 | 6 | 31 |
| 20–30 % | 9 | 28 | 15 | 25 | 12 | 22 |
| ≥30 % | 49 | 1 | 38 | 3 | 40 | 6 |
| Of whom >50 % | 2 | 0 | 3 | 0 | 4 | 0 |
| Total number | 58 | 59 | 58 | 59 | 58 | 59 |
| Shifts in life-time risk category | ||||||
| From FH to other, n(%) | 20 (34.5) | 21 (35.6) | 19 (34.5) | 24 (45.3) | ||
| From FH + PRS to other, n(%) | 11 (20.0) | 8 (15.1) | ||||
| Screening category change compared to FH | ||||||
| Upscaled, n(%) | 3 (15.0) | 11 (52.4) | 4 (21.1) | 14 (58.3) | ||
| Downscaled, n(%) | 17 (85.0) | 10 (47.6) | 15 (78.9) | 10 (41.7) | ||
| Screening category change compared to FH + PRS | ||||||
| Upscaled, n(%) | 5 (45.5) | 5 (62.5) | ||||
| Downscaled, n(%) | 6 (55.5) | 3 (27.5) | ||||
Differences in risk groups are shown for heterozygotes and non-carriers separately. The numbers of shifts might be different than expected from the presented data, as individual changes in risk category are not visible within this Table. † for three heterozygotes and six non-carriers, relevant QRFs were not available, and therefore only data on FH + PRS were used and by defintion they did not change category.