Carrier clinical characteristics
| Parameter | Cohort | BRCA1 pathogenic* | BRCA2 pathogenic* | BRCA1/BRCA2 VUS | Non-carriers† | P value |
| N (%) | N (%) | N (%) | N (%) | N (%) | ||
| Cohort (all) | 790 (100) | 70 (8.8) | 37 (4.7) | 82 (10.4) | 601 (76.1) | |
| Diagnosis to consent | P1=0.460, P2=0.106, P3=0.056, P4=0.353 | |||||
| 0–12 months | 636 (80.5) | 52 (8.2) | 27 (4.2) | 68 (10.7) | 489 (76.9) | |
| >12–24 months | 100 (12.7) | 9 (9) | 8 (8) | 8 (8) | 75 (75) | |
| >24–36 months | 39 (4.9) | 6 (15.4) | 2 (5.1) | 4 (10.3) | 27 (69.2) | |
| >36–48 months | 11 (1.4) | 3 (27.3) | 0 (0) | 2 (18.2) | 6 (54.5) | |
| Missing | 4 | 0 | 0 | 0 | 4 | |
| Ethnicity | P1=0.833, P2<0.001, P3=0.024, P4=0.027 | |||||
| Malay | 361 (45.7) | 40 (11.1) | 23 (6.4) | 29 (8) | 269 (74.5) | |
| Chinese | 298 (37.7) | 20 (6.7) | 8 (2.7) | 29 (9.7) | 241 (80.9) | |
| Indian | 74 (9.4) | 6 (8.1) | 5 (6.8) | 13 (17.6) | 50 (67.6) | |
| Indigenous‡ | 46 (5.8) | 1 (2.2) | 0 (0) | 10 (21.7) | 35 (76.1) | |
| Other§ | 11 (1.4) | 3 (27.3) | 1 (9.1) | 1 (9.1) | 6 (54.5) | |
| Age at diagnosis, mean±SD, years | 52.4±10.8 | 50.3±9.9 | 55.4±9.2 | 52.4±10.8 | P1=0.011, P2= 0.668 | |
| Personal history | P1=0.255, P2<0.001 | |||||
| Breast cancer | 35 (4.4) | 7 (10) | 4 (10.8) | 4 (4.9) | 20 (3.3) | |
| Uterine cancer | 34 (4.3) | 0 (0) | 0 (0) | 3 (3.7) | 31 (5.2) | |
| Colorectal cancer | 4 (0.5) | 0 (0) | 2 (5.4) | 0 (0) | 2 (0.3) | |
| Other cancers¶ | 5 (0.6) | 1 (1.4) | 0 (0) | 1 (1.2) | 3 (0.5) | |
| No other cancer | 712 (90.1) | 62 (88.6) | 31 (83.8) | 74 (90.2) | 545 (90.7) | |
| Family history | P1=0.176, P2<0.001 | |||||
| 1° and 2° breast and ovarian cancers | 170 (21.5) | 37 (52.9) | 15 (40.5) | 17 (20.7) | 101 (16.8) | |
| 1° and 2° prostate and pancreatic cancers | 9 (1.1) | 0 (0) | 1 (2.7) | 0 (0) | 8 (1.3) | |
| No related cancers** | 611 (77.3) | 33 (47.1) | 21 (56.8) | 65 (79.3) | 492 (81.9) | |
| Cancer type | P1=0.445, P2<0.001 | |||||
| Fallopian tube cancer | 38 (4.8) | 7 (10.3) | 2 (5.4) | 5 (6.1) | 24 (4.1) | |
| Peritoneal cancer | 42 (5.3) | 8 (11.8) | 3 (8.1) | 5 (6.1) | 26 (4.4) | |
| Epithelial ovarian cancer | ||||||
| Serous | 370 (53) | 44 (64.7) | 27 (73) | 38 (46.3) | 261 (44.2) | |
| Endometrioid | 150 (21.5) | 7 (10.3) | 2 (5.4) | 15 (18.3) | 126 (21.3) | |
| Clear cell | 142 (20.3) | 0 (0) | 2 (5.4) | 15 (18.3) | 125 (21.2) | |
| Mixed†† | 21 (3) | 0 (0) | 0 (0) | 0 (0) | 21 (3.6) | |
| Adenocarcinoma | 10 (1.4) | 1 (1.5) | 1 (2.7) | 4 (4.9) | 4 (0.7) | |
| Rare/Unclassified‡‡ | 5 (0.7) | 1 (1.5) | 0 (0) | 0 (0) | 4 (0.7) | |
| Missing | 12 | 2 | 0 | 0 | 10 | |
| FIGO stage | P1=0.777, P2<0.001 | |||||
| I | 220 (30.1) | 6 (9.1) | 2 (5.6) | 27 (34.2) | 185 (33.6) | |
| II | 94 (12.9) | 8 (12.1) | 3 (8.3) | 10 (12.7) | 73 (13.3) | |
| III | 326 (44.6) | 37 (56.1) | 25 (69.4) | 33 (41.8) | 231 (42) | |
| IV | 91 (12.4) | 15 (22.7) | 6 (16.7) | 9 (11.4) | 61 (11.1) | |
| Missing | 59 | 4 | 1 | 3 | 51 |
P values calculated using Fisher’s exact test for categorical variables; and Welch’s t-test for continuous variables. P1=p value for BRCA1 pathogenic versus BRCA2 pathogenic. P2 = p value for BRCA1 pathogenic and BRCA2 pathogenic versus non-carriers P3=p value for BRCA1 pathogenic versus non-carriers. P4=p value for BRCA2 pathogenic versus non-carriers.
*Pathogenic include carriers of pathogenic/likely pathogenic variants.
†Non-carriers include carriers of benign/likely benign variants.
‡Indigenous include ethnic minorities in Sarawak (Bidayuh, Iban, Melanau) and Sabah (Dusun, Murut, Iban, Bajau, Kadazan, Melanau, Bisaya, Sino-Dusun, Bugis, Iban, Sino-native, Sabahan-Cocos, Sabahan, Rungus).
§Other ethnicities include Malay-Pakistani, Indian-Chinese, Siamese-Chinese, Eurasian, Indonesian, Boyanese, Bruneian, Javanese, Singhalese and Filipino.
¶Personal history of other cancers include cervical, kidney, germ-cell and oesophageal cancers.
**No family history of breast, ovarian, prostate and/or pancreatic cancers in 1° and 2° relatives is categorised under no related cancers.
††Mixed include serous and endometrioid, serous and clear cell, serous and mucinous, clear cell and endometrioid and mixed epithelial.
‡‡Rare/Unclassified include transitional cell, carcinosarcoma and undifferentiated.
1°, first-degree; 2°, second-degree; N, number of participants; VUS, variants of uncertain significance.