Prevalence of germline B RCA1/2 (gBRCA1/2) mutation classified by patient background and ovarian factors
| Classification factors | n | gBRCA mutation prevalence | |||||
| Present | gBRCA1 mutation only | gBRCA2 mutation only | gBRCA1 and gBRCA2 mutations | Absent | Variant of uncertain significance | ||
| Patient factors | |||||||
| Age (years) | |||||||
| <41 | 41 | 4 (9.8) | 4 (9.8) | 0 (0.0) | 0 (0.0) | 36 (87.8) | 1 (2.4) |
| ≥41 | 593 | 89 (15.0) | 59 (9.9) | 30 (5.1) | 0 (0.0) | 476 (80.3) | 28 (4.7) |
| Menopausal status | |||||||
| Post-menopausal | 462 | 70 (15.2) | 47 (10.2) | 23 (5.0) | 0 (0.0) | 369 (79.9) | 23 (5.0) |
| Pre-menopausal | 169 | 22 (13.0) | 15 (8.9) | 7 (4.1) | 0 (0.0) | 141 (83.4) | 6 (3.6) |
| Unknown | 3 | 1 (33.3) | 1 (33.3) | 0 (0.0) | 0 (0.0) | 2 (66.7) | 0 (0.0) |
| Ovarian cancer factors | |||||||
| Cancer type (diagnosis by attending physician) | |||||||
| Epithelial ovarian cancer | 534 | 68 (12.7) | 47 (8.8) | 21 (3.9) | 0 (0.0) | 440 (82.4) | 26 (4.9) |
| Primary peritoneal cancer | 52 | 11 (21.2) | 9 (17.3) | 2 (3.8) | 0 (0.0) | 40 (76.9) | 1 (1.9) |
| Fallopian tube carcinoma | 48 | 14 (29.2) | 7 (14.6) | 7 (14.6) | 0 (0.0) | 32 (66.7) | 2 (4.2) |
| Histological category, atypia (centralized pathological diagnosis) | |||||||
| All serous cancers | 279 | 79 (28.3) | 54 (19.4) | 25 (9.0) | 0 (0.0) | 185 (66.3) | 15 (5.4) |
| High-grade serous cancer | 274 | 78 (28.5) | 53 (19.3) | 25 (9.1) | 0 (0.0) | 181 (66.1) | 15 (5.5) |
| Low-grade serous cancer | 5 | 1 (20.0) | 1 (20.0) | 0 (0.0) | 0 (0.0) | 4 (80.0) | 0 (0.0) |
| All mucinous cancers | 19 | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 19 (100.0) | 0 (0.0) |
| All endometrioid cancers | 120 | 8 (6.7) | 7 (5.8) | 1 (0.8) | 0 (0.0) | 104 (86.7) | 8 (6.7) |
| Clear-cell carcinoma | 187 | 4 (2.1) | 2 (1.1) | 2 (1.1) | 0 (0.0) | 178 (95.2) | 5 (2.7) |
| Seromucinous cancer | 4 | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 4 (100.0) | 0 (0.0) |
| Other | 25 | 2 (8.0) | 0 (0.0) | 2 (8.0) | 0 (0.0) | 22 (88.0) | 1 (4.0) |
| FIGO stage | |||||||
| I | 236 | 8 (3.4) | 3 (1.3) | 5 (2.1) | 0 (0.0) | 221 (93.6) | 7 (3.0) |
| II | 71 | 7 (9.9) | 7 (9.9) | 0 (0.0) | 0 (0.0) | 60 (84.5) | 4 (5.6) |
| III | 244 | 62 (25.4) | 42 (17.2) | 20 (8.2) | 0 (0.0) | 170 (69.7) | 12 (4.9) |
| IV | 80 | 16 (20.0) | 11 (13.8) | 5 (6.3) | 0 (0.0) | 58 (72.5) | 6 (7.5) |
| Other | 3 | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 3 (100.0) | 0 (0.0) |
Values are n (%).
CI, confidence interval;FIGO, International Federation of Gynecology and Obstetrics;gBRCA, germline BRCA.