Table 3 Impact of polygenic risk score (PRS) on the breast cancer risk conferred by the PALB2 frameshift mutation.
From: The role of polygenic risk and susceptibility genes in breast cancer over the course of life
HR (95% CI) | p value | Lifetime risk, % (95% CI) | Cases | Controls | |
|---|---|---|---|---|---|
PALB2 & PRS >90% | 11.8 (6.95–20.0) | 5.14 × 10−20 | 83.9 (71.2–96.6) | 14 | 18 |
PALB2 | 4.82 (3.77–6.16) | 5.66 × 10−36 | 55.3 (49.4–61.2) | 65 | 211 |
PRS 10–90% | 1.00 (reference) | – | 16.0 (15.8–16.2) | 5605 | 81,645 |
PALB2 & PRS <10% | 4.00 (1.66–9.63) | 0.002 | 49.1 (30.6–67.6) | 5 | 23 |