Table 1 Breast cancer hazard ratio estimates using a single model comparing other BRCA1/2 pathogenic variants versus (1) deletions, and (2) duplicationsa.

From: Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

 

Mutation type

Unaffected

Affected

HR

95%CI

p

BRCA1 carriers

Other

8669

8483

1.00

[reference]

Deletions

636

789

1.21

1.09

1.35

4.35E-04

Duplications

153

192

1.21

0.99

1.48

6.60E-02

BRCA2 carriers

Other

5913

6204

1.00

[reference]

Deletions

85

111

1.11

0.79

1.54

5.54E-01

Duplications

6

16

1.52

0.61

3.77

3.68E-01

  1. a Weighted cohort models fitted separately for BRCA1 and BRCA2 carriers. Weights were calculated assuming BRCA1/2 carrier breast cancer incidences from most recent age cohort in Antoniou et al., (2008). Models were stratified by country and Ashkenazi Jewish ancestry, and adjusted for birth cohort and genotyping array. Cluster robust variances were estimated using families as clusters.
  2. HR hazard ratio, 95%CI 95% confidence interval; p-value.
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