Table 3 Testing for BRCA Pathogenic Variants in Accordance with NCCN Guidelinesa in All Patients
Total in risk group, n | Patients testedb, n (%) | Genetic testing resultc, n (%) | ||||||
|---|---|---|---|---|---|---|---|---|
No Pathogenic Variant | Any Pathogenic Variants | BRCA1 Pathogenic Variant | BRCA2 Pathogenic variants | BRCA1 and BRCA2 Pathogenic Variants | Unknown | |||
All Patients | ||||||||
Total patients included in the study | 410 | 384 (93.7) | – | – | – | – | – | – |
Risk groups based on NCCN guidelinesd | ||||||||
Personal history of male breast cancer | 20 | 18 (90.0) | 12 (66.7) | 6 (33.3) | 4 (22.2) | 2 (11.1) | 0 (0.0) | 0 (0.0) |
Women with at least one close blood relative with aBRCA1orBRCA2pathogenic variant | 68 | 68 (100.0) | 15 (22.1) | 53 (77.9) | 34 (50.0) | 14 (20.6) | 5 (7.4) | 0 (0.0) |
Women diagnosed with breast cancer at age ≤ 45 | 150 | 141 (94.0) | 95 (67.4) | 43 (30.5) | 31 (22.0) | 8 (5.7) | 4 (2.8) | 3 (2.1) |
Women diagnosed at age ≤ 50 with | ||||||||
An additional primary breast cancer | 12 | 12 (100.0) | 4 (33.3) | 6 (50.0) | 4 (33.3) | 2 (16.7) | 0 (0.0) | 2 (16.7) |
At least one close blood relativee with breast cancer at any age | 115 | 109 (94.8) | 60 (55.0) | 48 (44.0) | 34 (31.2) | 10 (9.2) | 4 (3.7) | 1 (0.9) |
At least one close blood relative with prostate cancer (Gleason score ≥ 7) | 38 | 33 (86.8) | 21 (63.6) | 12 (36.4) | 8 (24.2) | 4 (12.1) | 0 (0.0) | 0 (0.0) |
Women diagnosed at age ≤ 60 years with | ||||||||
Triple negative breast cancer | 102 | 98 (96.1) | 58 (59.2) | 39 (39.8) | 33 (33.7) | 4 (4.1) | 2 (2.0) | 1 (1.0) |
Women diagnosed at any age with | ||||||||
At least one close blood relative with breast cancer diagnosed at age ≤ 50 years | 148 | 139 (93.9) | 84 (60.4) | 54 (38.8) | 38 (27.3) | 12 (8.6) | 4 (2.9) | 1 (0.7) |
At least two close blood relatives on the same side of the family with breast cancer at any age | 164 | 152 (92.7) | 93 (61.2) | 57 (37.5) | 39 (25.7) | 13 (8.6) | 5 (3.3) | 2 (1.3) |
At least one close blood relative with ovarian cancer at any age | 116 | 108 (93.1) | 65 (60.2) | 42 (38.9) | 28 (25.9) | 12 (11.1) | 2 (1.9) | 1 (0.9) |
At least two close blood relatives on the same side of the family with pancreatic and/or prostate cancer (Gleason score ≥ 7) at any age | 59 | 54 (91.5) | 42 (77.8) | 12 (22.2) | 9 (16.7) | 3 (5.6) | 0 (0.0) | 0 (0.0) |
At least one close male blood relative with breast cancer | 18 | 14 (77.8) | 8 (57.1) | 6 (42.9) | 4 (28.6) | 2 (14.3) | 0 (0.0) | 0 (0.0) |
Ashkenazi Jewish or ethnic groups associated with founder mutations | 74 | 72 (97.3) | 41 (56.9) | 31 (43.1) | 19 (26.4) | 10 (13.9) | 2 (2.8) | 0 (0.0) |
Women with a personal history of ovarian cancer | 18 | 18 (100.0) | 7 (38.9) | 11 (61.1) | 7 (38.9) | 3 (16.7) | 1 (5.6) | 0 (0.0) |