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Table 2 Risk characteristics of patients with small-scale mutations and large genomic rearrangements

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
  1. BC breast cancer, OC ovarian cancer
  2. Bold numbers represent statistical significance
  3. aBoth small-scale mutation and large genomic rearrangement negative
  4. bFor a test of the hypothesis that the frequency of each high-risk feature in mutation negative and mutation positive group is equal
  5. cThe percentage of patients with high-risk feature among OC patients