Article Figures & Data
Tables
- Table 1
Demographics of patients with breast cancer and distributions of cancers in their relatives according to BRCA status
Variables BRCA1 (n = 209) BRCA2 (n = 329) Non-carriers (n = 9,365) P1 value P2 value P3 value Gender Male 1 (0.5) 1 (0.3) 19 (0.2) 0.357† 0.499† 1.000† Female 208 (99.5) 328 (99.7) 9,346 (99.8) Age, years (mean ± SD) 44.7 ± 10.1 47.8 ± 10.5 51.3 ± 11.6 <0.001‡ <0.001‡ 0.001‡ Cancer types 0 76 (36.4) 146 (44.4) 6,529 (69.7) <0.001§ <0.001§ 0.063§ 1 87 (41.6) 124 (37.7) 2,071 (23.1) 2 35 (16.8) 45 (13.7) 574 (6.1) ≥3 11 (5.3) 14 (4.3) 191 (1.3) Affected members 0 76 (36.4) 146 (44.4) 6,529 (69.7) <0.001§ <0.001§ 0.094§ 1 76 (36.4) 109 (33.1) 2,071 (22.1) 2 40 (19.1) 42 (12.8) 574 (6.1) ≥3 17 (8.1) 32 (9.7) 191 (2.0) P1, BRCA1 vs. non-carriers; P2, BRCA2 vs. non-carriers; P3, BRCA1 vs. BRCA2. †Data comparison between two groups using the Fisher’s exact test. ‡Data comparison between two groups using the Student’s t-test. §Data comparison between two groups using the Wilcoxon rank-sum test. Data are shown as n (%), unless otherwise specified, which refers to patients with breast cancer.
- Table 2
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.
- Table 3
Cancer risks in male 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) Lung cancer 15 (7.2) 16 (4.9) 417 (4.5) 1.61 (0.98-2.65, 0.061†) 1.09 (0.67-1.78, 0.723†) 1.48 (0.75-2.92, 0.262†) Esophageal cancer 13 (6.2) 16 (4.9) 250 (2.7) 2.33 (1.36-4.00, 0.002†) 1.82 (1.11-2.98, 0.017†) 1.28 (0.63-2.60, 0.497†) Gastric cancer 10 (4.8) 10 (3.0) 262 (2.8) 1.71 (0.92-3.17, 0.087†) 1.09 (0.58-2.02, 0.794†) 1.57 (0.67-3.72, 0.297†) Liver cancer 5 (2.4) 14 (4.3) 244 (2.6) 0.92 (0.38-2.20, 0.848†) 1.63 (0.96-2.77, 0.068†) 0.56 (0.21-1.54, 0.254†) Pancreatic cancer 3 (1.4) 9 (2.7) 59 (0.6) 2.28 (0.72-7.21, 0.153‡) 4.34 (2.17-8.68, 0.001‡) 0.52 (0.14-1.92, 0.384‡) Prostatic cancer 2 (1.0) 7 (2.1) 41 (0.4) 2.19 (0.53-8.98, 0.241‡) 4.86 (2.20-10.75, 0.001‡) 0.45 (0.09-2.14, 0.493‡) Lymphoma 5 (2.4) 4 (1.2) 47 (0.5) 4.77 (1.92-11.86, 0.005‡) 2.42 (0.88-6.68, 0.094‡) 1.97 (0.53-7.24, 0.320‡) Colorectal cancer 3 (1.4) 5 (1.5) 155 (1.7) 0.87 (0.28-2.70, 1.000‡) 0.92 (0.38-2.22, 1.000‡) 0.94 (0.23-3.91, 1.000‡) Urothelial carcinoma 3 (1.4) 3 (0.9) 42 (0.5) 3.20 (1.00-10.24, 0.075‡) 2.03 (0.63-6.53, 0.196‡) 1.57 (0.32-7.73, 0.682‡) Kidney cancer 0 (0.0) 4 (1.2) 27 (0.3) 0 (-, 1.000‡) 4.22 (1.48-11.98, 0.020‡) 0 (-, 0.161‡) Breast cancer 1 (0.5) 2 (0.6) 6 (0.1) 7.47 (0.90-61.76, 0.143‡) 9.49 (1.92-46.83, 0.028‡) 0.79 (0.07-8.63, 1.000‡) Other cancers 5 (2.4) 9 (2.7) 166 (1.8) 1.35 (0.56-3.25, 0.426‡) 1.54 (0.80-2.99, 0.197†) 0.87 (0.30-2.57, 0.807†) Any cancer 55 (26.3) 89 (27.1) 1,562 (16.7) 1.58 (1.25-1.99, <0.001†) 1.62 (1.35-1.95, <0.001†) 0.97 (0.73-1.30, 0.851†) 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.
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