Table 1.
Genes associated with an elevated risk of prostate cancer (PrCa).
| Gene | OMIM | PrCa Risk * | Frequency (%) | Reference |
|---|---|---|---|---|
| PrCa Predisposing Genes Recommended for Genetic Testing | ||||
| ATM | 607585 | Unselected OR: 2.1 | 7.4% | [90,108,109] |
| Metastatic RR: 6.3–7.4 | 1.6–1.9% | |||
| BRCA1 | 113705 | Unselected RR: 1.8–3.8 | 0.5% | [53,54,88,90,109] |
| Early-onset, OR: 1.9 ‡ (95% CI: 0.7–5.1) | 0.8% | |||
| Metastatic RR, 3.9–5.3 | 0.9–1% | |||
| BRCA2 | 600185 | Unselected RR: 2.9–4.7 | 1.2% | [55,57,58,90,109,110] |
| Early-onset RR: 7.8–23 | 0.8–2.3% | |||
| Metastatic, RR: 11.5–18.6 | 3.3–5.4% | |||
| CHEK2 | 604373 | Unselected OR: 1.8–3.3 | 0.05–3.8% | [82,85,86,88,90,109,111,112] |
| Familial/HPC, OR: 2.7–8.2 | 1.2–10.2% | |||
| Early-onset, OR 2.4 | 2.6% | |||
| Metastatic, RR: 3.1 | 0.5–1.9% | |||
| HOXB13 (G84E) | 604607 | Unselected OR: 2–8.7 | 0.5–4.6% | [31,38,39,113] |
| Familial, OR: 6.6–20.1 | 3.1–8.2% | |||
| Early-onset, OR, 8.6 | 0.5–10.3% | |||
| MMR genes (MLH1, MSH2, MSH6, PMS2) | 120436 | Unselected RR: 1.9–3.7 | [28,30,90,109,114] | |
| Familial/Early-onset | 0.4% | |||
| Metastatic, RR: 1.9–6.0 ‡ (95% CI: 0.05–45) | 0.2–0.6% | |||
| PALB2 | 610355 | Unselected OR: 0.5–2.1 ‡ (95% CI: 0.2–7.1) | 0.1% | [82,90] |
| Metastatic, RR: 3.5 ‡ (95% CI: 0.7–10.3) | 0.4% | |||
| Novel Candidate PrCa Predisposing Genes | ||||
| BRIP1 | 605882 | Familial/Early-onset, OR, 2.4 ‡ (95% CI: 0.25–23.4) | 0.1% | [90,104] |
| Metastatic, RR: 0.9 ‡ (95% CI: 0.02–5.3) | 0.2% | |||
| NBS1 (c.657del5) | 251260 | Unselected OR: 2.5–3.9 | 1.4–2.2% | [88,106] |
| Familial, OR: 4.3–16 | 2.4–9.0% | |||
| Early-onset, OR: 3.1 | 1.8% | |||
| Metastatic, RR: 2.5 ‡ (95% CI: 0.3–9.1) | 0.3% | |||
| RAD51D | 602954 | Metastatic, RR: 5.7 | 0.4% | [90] |
* PrCa risk estimates combine odds ratios and relative risks, depending on the study. Early-onset was considered for diagnosis under the age of 56 years old, with the exception of the study from Cybulski et al. [88] (≤60 years old). ‡ Statistically non-significant PrCa risk association.