From: Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
Characteristic | mutation negativea | mutation positive | p-valueb | |
---|---|---|---|---|
small-scale mutations | large genomic rearrangements | |||
Number | 82 | 22 | 2 | |
Age, years | ||||
Mean (SD) | 51 (13) | 51 (9) | 55 (18) | |
Age at diagnosis, years | ||||
Mean (SD) | 48 (12) | 48 (9) | 49 (25) | |
BC | 28 | 11 | 1 | |
OC | 54 | 11 | 1 | |
High-risk features (BC) | ||||
Family history (1st-3rd degree)c | 12 | 6 | 1 | 0.5804 |
Early-onset (≤ 36 years) | 9 | 1 | 1 | 0.5365 |
Bilateral | 5 | 2 | 1 | 0.9313 |
BC + OC | 4 | 3 | 0.7164 | |
Multiple risk | 9 | 4 | 1 | |
≥ 1 high-risk feature | 24 | 10 | 1 | |
High-risk features (OC) | ||||
Family history (1st-3rd degree)c | 5 | 5 | 1 | 0.0831 |
High-risk features (overall) | ||||
≥ 1 high-risk feature | 29 | 15 | 2 | 0.0326 |