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Table 8 Impact of race/ethnicity heterogeneity in distribution of rare key domain C65 missense substitutions

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   
Key functional domain* C65 rMS or in-frame indel§
  MRE11A 4 0   
  RAD50 4 1   
  NBN 2 1   
Total 10 2 4.35 (0.95-19.9) 1.78 (0.38-8.35)
Key functional domain* rMS (C0 < severity < C65)$
  MRE11A 3 1   
  RAD50 6 1   
  NBN 1 0   
Total 10 2 4.34 (0.95-19.9) 4.55 (0.97-21.3)
T + SJV¥ plus key functional domain* rMS (C0 < severity < C65)$
  MRE11A 4 1   
  RAD50 10 4   
  NBN 5 0   
Total 19 5 3.30 (1.23-8.87) 3.39 (1.23-9.33)
T + SJV¥ plus key functional domain* rMS (severity > C0), analysis limited to CEU subjects.
  MRE11A 3 0   
  RAD50 7 4   
  NBN 4 0   
Total 14 4 4.04 (1.33-12.3) 4.08 (1.32-12.5)
  1. Boldface within the table indicates P <0.05. In these binary logistic regressions, the regression coefficient = ln(OR). *The key functional domains are defined in Figure 1. §Eight distinct key functional domain C65 missense substitutions and the RAD50 final exon frameshift c.3852del4 fall in this group (Table 4). $Eleven distinct key functional domain missense substitutions fall in this group (Table 4). ¥Truncating and splice junction variants; excludes final exon nonsense and frameshift variants. Limiting to CEU (Caucasians of European ancestry) subjects reduces the number of case and control noncarriers to 834 and 963, respectively. rMS, rare missense substitution; T + SJV, truncating and splice junction variants.