Cancer risks in female relatives of germline BRCA1 and BRCA2 pathogenic variant carriers
| Cancers | BRCA1 (n = 209) | BRCA2 (n = 329) | Non-carriers (n = 9,365) | RR1 (95% CI, P value) | RR2 (95% CI, P value) | RR3 (95% CI, P value) |
|---|---|---|---|---|---|---|
| Breast cancer | 69 (33.0) | 106 (32.2) | 720 (7.7) | 4.29 (3.50-5.27, <0.001†) | 4.19 (3.53-4.98, <0.001†) | 1.02 (0.80-1.31, 0.848†) |
| Ovarian cancer | 24 (11.5) | 8 (2.4) | 49 (0.5) | 21.95 (13.73-35.07, <0.001‡) | 4.65 (2.22-9.73, 0.001‡) | 4.72 (2.16-10.31, <0.001†) |
| Lung cancer | 5 (2.4) | 12 (3.7) | 244 (2.6) | 0.92 (0.38-2.20, 0.848†) | 1.40 (0.79-2.47, 0.247†) | 0.66 (0.23-1.83, 0.417†) |
| Liver cancer | 8 (3.8) | 2 (0.6) | 96 (1.0) | 3.73 (1.84-7.58, 0.002‡) | 0.59 (0.15-2.40, 0.775‡) | 6.30 (1.35-29.36, 0.016‡) |
| Cervical cancer | 5 (2.4) | 5 (1.5) | 75 (0.8) | 2.99 (1.22-7.31, 0.030‡) | 1.90 (0.77-4.66, 0.198‡) | 1.57 (0.46-5.37, 0.521‡) |
| Gastric cancer | 3 (1.4) | 4 (1.2) | 113 (1.2) | 1.19 (0.38-3.71, 0.742‡) | 1.01 (0.37-2.71, 1.000‡) | 1.18 (0.27-5.22, 1.000‡) |
| Pancreatic cancer | 2 (1.0) | 5 (1.5) | 56 (0.6) | 1.60 (0.39-6.51, 0.362‡) | 2.54 (1.02-6.30, 0.055‡) | 0.63 (0.12-3.22, 0.711‡) |
| Endometrial adenocarcinoma | 4 (1.9) | 2 (0.6) | 86 (0.9) | 2.08 (0.77-5.63, 0.134‡) | 0.66 (0.16-2.68, 0.771‡) | 3.15 (0.58-17.04, 0.214‡) |
| Lymphoma | 1 (0.5) | 4 (1.2) | 36 (0.4) | 1.24 (0.17-9.04, 0.559‡) | 3.16 (1.13-8.83, 0.046‡) | 0.39 (0.04-3.50, 0.653‡) |
| Esophageal cancer | 4 (1.9) | 1 (0.3) | 117 (1.3) | 1.53 (0.57-4.11, 0.340‡) | 0.24 (0.03-1.74, 0.192‡) | 6.30 (0.71-55.95, 0.078‡) |
| Colorectal cancer | 2 (1.0) | 2 (0.6) | 174 (1.9) | 0.52 (0.13-2.06, 0.596‡) | 0.33 (0.08-1.31, 0.135‡) | 1.57 (0.22-11.09, 0.644‡) |
| Kidney cancer | 0 (0.0) | 3 (0.9) | 21 (0.2) | 0 (-, 1.000‡) | 4.07 (1.22-13.56, 0.046‡) | 0 (-, 0.286‡) |
| Urothelial carcinoma | 0 (0.0) | 1 (0.3) | 23 (0.3) | 0 (-, 1.000‡) | 1.24 (0.17-9.14, 0.564‡) | 0 (-, 1.000‡) |
| Other cancers | 4 (1.9) | 9 (2.7) | 157 (1.7) | 1.14 (0.43-3.05, 0.781‡) | 1.63 (0.84-3.17, 0.146†) | 0.70 (0.22-2.24, 0.545†) |
| Any cancer | 110 (52.6) | 142 (43.2) | 1,746 (18.6) | 2.82 (2.47-3.23, <0.001†) | 2.32 (2.03-2.64, <0.001†) | 1.22 (1.02-1.46, 0.032†) |
RR1, BRCA1 vs. non-carriers; RR2, BRCA2 vs. non-carriers; RR3, BRCA1 vs. BRCA2. †Data comparison between two groups using the Pearson Chi square test. ‡Data comparison between two groups using the Fisher’s exact test. Data are shown as n (%), unless otherwise specified, which refers to the number of patients with a family history of cancers.