TABLE 1.
Prevalence of gBRCA1/2 mutations in subgroups stratified by gBRCA mutation location and patient background and clinical characteristics
| gBRCA mutations | gBRCA1 mutations a | gBRCA2 mutations | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Present | gBRCA1 only | gBRCA2 only | Absent | Inside the OCCR | Outside the OCCR | Founder mutation (L63X) | Inside the OCCR | Outside the OCCR | |
| All, n | 93 | 63 | 30 | 512 | 28 | 15 | 16 | 15 | 15 |
| Age, y | |||||||||
| 20‐29 | 0 | 0 | 0 | 4 (0.8) | 0 | 0 | 0 | 0 | 0 |
| 30‐39 | 3 (3.2) | 3 (4.8) | 0 | 29 (5.7) | 1 (3.6) | 1 (6.7) | 1 (6.3) | 0 | 0 |
| 40‐49 | 24 (25.8) | 19 (30.2) | 5 (16.7) | 113 (22.1) | 8 (28.6) | 5 (33.3) | 6 (37.5) | 3 (20.0) | 2 (13.3) |
| 50‐59 | 22 (23.7) | 16 (25.4) | 6 (20.0) | 153 (29.9) | 8 (28.6) | 3 (20.0) | 3 (18.8) | 3 (20.0) | 3 (20.0) |
| 60‐69 | 37 (39.8) | 20 (31.7) | 17 (56.7) | 136 (26.6) | 7 (25.0) | 6 (40.0) | 5 (31.3) | 8 (53.3) | 9 (60.0) |
| 70‐79 | 5 (5.4) | 3 (4.8) | 2 (6.7) | 66 (12.9) | 3 (10.7) | 0 | 0 | 1 (6.7) | 1 (6.7) |
| ≥80 | 2 (2.2) | 2 (3.2) | 0 | 11 (2.1) | 1 (3.6) | 0 | 1 (6.3) | 0 | 0 |
| ≤40 | 4 (4.3) | 4 (6.3) | 0 | 36 (7.0) | 2 (7.1) | 1 (6.7) | 1 (6.3) | 0 | 0 |
| ≥41 | 89 (95.7) | 59 (93.7) | 30 (100.0) | 476 (93.0) | 26 (92.9) | 14 (93.3) | 15 (93.8) | 15 (100.0) | 15 (100.0) |
| ≤49 | 27 (29.0) | 22 (34.9) | 5 (16.7) | 146 (28.5) | 9 (32.1) | 6 (40.0) | 7 (43.8) | 3 (20.0) | 2 (13.3) |
| ≥50 | 66 (71.0) | 41 (65.1) | 25 (83.3) | 366 (71.5) | 19 (67.9) | 9 (60.0) | 9 (56.3) | 12 (80.0) | 13 (86.7) |
| ≤64 | 63 (67.7) | 46 (73.0) | 17 (56.7) | 368 (71.9) | 21 (75.0) | 11 (73.3) | 11 (68.8) | 8 (53.3) | 9 (60.0) |
| ≥65 | 30 (32.3) | 17 (27.0) | 13 (43.3) | 144 (28.1) | 7 (25.0) | 4 (26.7) | 5 (31.3) | 7 (46.7) | 6 (40.0) |
| History of childbirth | |||||||||
| Yes | 72 (77.4) | 50 (79.4) | 22 (73.3) | 351 (68.6) | 22 (78.6) | 13 (86.7) | 11 (68.8) | 9 (60.0) | 13 (86.7) |
| No | 3 (3.2) | 2 (3.2) | 1 (3.3) | 12 (2.3) | 1 (3.6) | 0 | 1 (6.3) | 1 (6.7) | 0 |
| Unknown | 18 (19.4) | 11 (17.5) | 7 (23.3) | 149 (29.1) | 5 (17.9) | 2 (13.3) | 4 (25.0) | 5 (33.3) | 2 (13.3) |
| Histological classification | |||||||||
| Low‐grade serous cancer | 1 (1.1) | 1 (1.6) | 0 | 4 (0.8) | 0 | 1 (6.7) | 0 | 0 | 0 |
| High‐grade serous cancer | 78 (83.9) | 53 (84.1) | 25 (83.3) | 181 (35.4) | 24 (85.7) | 13 (86.7) | 13 (81.3) | 12 (80.0) | 13 (86.7) |
| Mucinous cancer | 0 | 0 | 0 | 19 (3.7) | 0 | 0 | 0 | 0 | 0 |
| Endometrioid cancer | 8 (8.6) | 7 (11.1) | 1 (3.3) | 104 (20.3) | 4 (14.3) | 1 (6.7) | 1 (6.3) | 1 (6.7) | 0 |
| Clear cell carcinoma | 4 (4.3) | 2 (3.2) | 2 (6.7) | 178 (34.8) | 0 | 0 | 2 (12.5) | 1 (6.7) | 1 (6.7) |
| Others | 2 (2.2) | 0 | 2 (6.7) | 22 (4.3) | 0 | 0 | 0 | 1 (6.7) | 1 (6.7) |
| Classification of advanced stage (FIGO 2014) | |||||||||
| I | 8 (8.6) | 3 (4.8) | 5 (16.7) | 221 (43.2) | 2 (7.1) | 0 | 0 | 4 (26.7) | 1 (6.7) |
| II | 7 (7.5) | 7 (11.1) | 0 | 60 (11.7) | 3 (10.7) | 1 (6.7) | 3 (18.8) | 0 | 0 |
| III | 62 (66.7) | 42 (66.7) | 20 (66.7) | 170 (33.2) | 16 (57.1) | 13 (86.7) | 11 (68.8) | 8 (53.3) | 12 (80.0) |
| IV | 16 (17.2) | 11 (17.5) | 5 (16.7) | 58 (11.3) | 7 (25.0) | 1 (6.7) | 2 (12.5) | 3 (20.0) | 2 (13.3) |
| Others | 0 | 0 | 0 | 3 (0.6) | 0 | 0 | 0 | 0 | 0 |
| Geographic location | |||||||||
| East | 58 (62.4) | 40 (63.5) | 18 (60.0) | 268 (52.3) | 18 (64.3) | 5 (33.3) | 15 (93.8) | 9 (60.0) | 9 (60.0) |
| West | 35 (37.6) | 23 (36.5) | 12 (40.0) | 244 (47.7) | 10 (35.7) | 10 (66.7) | 1 (6.3) | 6 (40.0) | 6 (40.0) |
| History of breast cancer | |||||||||
| Yes | 14 (15.1) | 11 (17.5) | 3 (10.0) | 16 (3.1) | 3 (10.7) | 1 (6.7) | 6 (37.5) | 2 (13.3) | 1 (6.7) |
| No | 79 (84.9) | 52 (82.5) | 27 (90.0) | 496 (96.9) | 25 (89.3) | 14 (93.3) | 10 (62.5) | 13 (86.7) | 14 (93.3) |
Data are given as n (%).
Abbreviations: BRCA, breast cancer susceptibility gene; FIGO, International Federation of Gynecology and Obstetrics; OCCR, ovarian cancer cluster region.
a
Four patients with silent gBRCA1 mutations are not included.