Table 1 Diagnostic yield of pathogenic variants in subgroups of women with breast and/or ovarian cancer
Any variant class 4/5a, n (%) | P Value | |
|---|---|---|
All women (n = 4622) | 765 (16.6) | |
Diagnosis, breast and/or ovarian cancer (n = 4622) | P = 1.10 × 10–13 | |
Breast cancer only (n = 4013) | 602 (15.0) | |
Ovarian cancer only (n = 390) | 93 (23.8) | |
Breast and ovarian cancer (n = 219) | 70 (32.0) | |
Breast cancer, age at first diagnosis (n = 4036) | P = 0.0033 | |
< 30 years (n = 186) | 41 (22.0) | |
30–39 years (n = 1055) | 198 (18.8) | |
40–49 years (n = 1360) | 211 (15.5) | |
50–59 years (n = 831) | 124 (14.9) | |
60–69 years (n = 463) | 58 (12.5) | |
≥ 70 years (n = 141) | 17 (12.1) | |
Breast cancer, unilateral vs bilateral (n = 4036) | P = 2.01 × 10–6 | |
Unilateral breast cancer (n = 3409) | 508 (14.9) | |
Bilateral breast cancer (n = 627) | 141 (22.5) | |
First breast cancer, invasive vs in situ (n = 3190) | P = 0.28 | |
Invasive breast cancer (n = 2932) | 461 (15.7) | |
In situ breast cancer only (n = 258) | 34 (13.2) | |
Ovarian cancer, age at diagnosis (n = 574) | P = 0.00049 | |
< 30 years (n = 21) | 1 (4.8) | |
30–39 years (n = 40) | 7 (17.5) | |
40–49 years (n = 104) | 34 (32.7) | |
50–59 years (n = 157) | 55 (35.0) | |
60–69 years (n = 169) | 50 (29.6) | |
≥ 70 years (n = 83) | 11 (13.3) | |
Ovarian cancer, morphological subtype (n = 485) | P = 0.00030 | |
Serous high grade (HGS) (n = 275) | 99 (36.0) | |
Serous low grade (LGS) (n = 48) | 10 (20.8) | |
Serous invasive not classified (n = 64) | 14 (21.9) | |
Clear cell (n = 25) | 3 (12.0) | |
Endometrioid (n = 24) | 2 (8.3) | |
Mucinous (n = 19) | 3 (15.8) | |
Borderline (n = 30) | 3 (10.0) | |
Ovarian cancer, primary location (n = 524) | P = 0.49 | |
Ovary (n = 387) | 107 (27.6%) | |
Fallopian tube (n = 72) | 24 (33.3%) | |
Peritoneal or abdomen NOS (n = 65) | 16 (24.6%) | |