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Table 9 Individual contributions of MRE11A , RAD50 , and NBN to the ensemble model

From: Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

Class Cases, n Controls, n Crude OR(95% CI) Adjusted OR(95% CI)
Noncarriers 1,283 1,114   
MRE11A
  T + SJV¥ 1 0 [P = 1.00]¥  
  rMS or IFD 7 1 6.08 (0.75-49.5) 3.62 (0.42-31.5)
  Combined 8 1 6.95 (0.87-55.6) 5.02 (0.59-42.8)
RAD50
T + SJV¥$ 4 3 1.16 (0.26-5.18) 1.09 (0.23-5.24)
rMS or IFD* 10 2 4.34 (0.95-19.9) 3.21 (0.68-15.2)
Combined 14 5 2.43 (0.87-6.77) 1.98 (0.68-5.71)
NBN
  T + SJV¥ 4 0 [P = 0.13]¥  
  rMS or IFD* 3 1 2.60 (0.27-25.1) 2.12 (0.20-22.6)
  Combined 7 1 6.08 (0.75-49.5) 5.28 (0.62-45.2)
MRE11A, RAD50, and NBN ensemble model*
T + SJV¥$ 9 3 2.60 (0.70-9.65) 2.61 (0.67-10.1)
rMS or IFD 20 4 4.34 (1.48-12.7) 3.07 (1.01-9.31)
Combined 29 7 3.60 (1.57-8.24) 2.88 (1.22-6.78)
  1. Boldface within the table indicates P <0.05. In these binary logistic regressions, the regression coefficient = ln(OR). ¥Truncating and splice junction variants; excludes final exon nonsense and frameshift variants. ¥Because there were no observations of this class of variants in the controls, the crude odds ratio is infinity (∞) and the P value was calculated by Fisher exact test rather than by logistic regression; this also precludes calculation of adjusted odds ratios. As 95% confidence intervals could not be estimated, we report the P value. *Key functional domain rare missense substitutions with A-GVGD scores > C0, in-frame indels, and final exon nonsense and frameshift variants if they also fall in a key functional domain. The key functional domains are defined in Figure 1. ¢One subject (a case) carried both the MRE11A key domain rare missense substitution MRE11A p.D235G and the NBN non key domain rare missense substitution NBN p.V210F. $One subject (a case) carried both the RAD50 splice acceptor variant RAD50 c.552-1G > A and the RAD50 silent substitution RAD50 c.3153G > A (p.L1051L). T + SJV, truncating and splice junction variants; rMS, rare missense substitution; IFD, in-frame deletion.