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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