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Table 4 Correlation between clinical risk factors of hereditary breast cancer and having pathogenic germline mutations in the 20 breast cancer susceptibility genes

From: Germline breast cancer susceptibility gene mutations and breast cancer outcomes

Risk factors Mutation rate OR (95% CI)* P-value
Family history† Yes 16.2% (37/228) 1.60 (0.90–2.88) 0.113
No 11.1% (28/252)   
Age of onset ≤ 40 12.7% (33/260) 1.26 (0.69–2.31) 0.452
  >  40 13.6% (27/198)   
Triple negative breast cancer Yes 14.2% (18/127) 1.27 (0.67–2.42) 0.469
No 13.3% (47/353)   
Bilateral breast cancer Yes 29.6% (16/54) 3.27 (1.64–6.51) 0.0008
No 11.5% (49/426)   
Breast and ovarian cancer Yes 50% (2/4) 5.90 (0.70–49.6) 0.103
No 13.0% (63/476)   
Male breast cancer Yes 16.7% (1/6) 2.35 (0.25–21.9) 0.454
No 13.1% (64/474)   
No. of risk factors 1 10.4% (32/309) 1.82 (1.25–2.64) 0.002
  2 18.4% (27/147)   
  3 19.1% (4/21)   
  4 50% (1/2)   
  5 100% (1/1)   
All subjects   13.5% (65/480)   
  1. * The adjusted odds ratios (OR) of having a pathogenic mutation in the 20 genes were calculated using multivariable logistic regression with the six dichotomous risk factors; the odds ratio for the no. of risk factors was obtained using univariate logistic regression. The statistically significant P-values (< 0.05) are shown in bold. † The presence of family history was defined as two or more persons on the same lineage of the family having breast or ovarian cancer. If the study participant had breast cancer, only one family member with breast/ovarian cancer was needed to qualify as having family history
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