Table 2. Rates of Positive Pathogenic Variants by Indication.
Variable | Total | Pathogenic/likely pathogenic mutations |
|||||
---|---|---|---|---|---|---|---|
All variants |
BRCA1/2
|
Non-BRCA1/2 |
|||||
n (%) | P-value | n (%) | P-value | n (%) | P-value | ||
Age at diagnosis (years) | 0.18 | 0.23 | 0.29 | ||||
≤ 70 | 102 | 9 (8.8%) | 3 (2.9%) | 6 (5.8%) | |||
> 70 | 102 | 13 (12.7%) | 5 (4.9%) | 8 (7.8%) | |||
Triple-negative disease | 0.37 | 0.24 | 0.33 | ||||
Yes | 33 | 3 (9.1%) | 2 (6.1%) | 1 (3.0%) | |||
No | 171 | 19 (11.1%) | 11 (6.4%) | 8 (4.7 %) | |||
≥ close blood relative with breast cancer diagnosed at age ≤ 50 years | 0.47 | 0.17 | 0.21 | ||||
Yes | 110 | 12 (10.9%) | 3 (2.7%) | 9 (8.2%) | |||
No | 94 | 10 (10.6%) | 5 (5.3%) | 5 (5.3%) | |||
≥ 1 close blood relative with: Epithelial ovarian cancer at any age; Exocrine pancreatic cancer at any age; Metastatic prostate cancer at any age | 0.18 | 0.24 | 0.29 | ||||
Yes | 33 | 5 (15.2%) | 2 (6.1%) | 3 (9.1%) | |||
No | 171 | 17 (9.9%) | 6 (3.5%) | 11 (6.4%) | |||
≥ 2 close relatives with breast cancer diagnosed at any age | 0.38 | 0.39 | 0.27 | ||||
Yes | 86 | 10 (11.6%) | 3 (3.5%) | 7 (8.1%) | |||
No | 118 | 12 (10.2%) | 5 (4.2%) | 7 (5.9%) | |||
More than one primary breast cancers, first diagnosed before age of 65 years | 0.36 | 0.23 | 0.45 | ||||
Yes | 13 | 1 (7.7%) | 0 | 1 (7.7%) | |||
No | 191 | 21 (10.9%) | 8 (4.2%) | 13 (6.8%) | |||
Diagnosed at any age with a close male relative with breast cancer at any age | 0.24 | 0.34 | 0.29 | ||||
Yes | 4 | 0 | 0 | 0 | |||
No | 200 | 22 (11%) | 8 (4%) | 14 (7%) | |||
All patients | 204 | 22 (10.8%) | 8 (3.9%) | 14 (6.9%) |