Skip to main content

Table 5 Analyses of potentially pathogenic groups of rare variants

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   
T + SJV¥
  MRE11A 1 0   
  RAD50$ 4 3   
  NBN 4 0   
Total 9 3 2.60 (0.70-9.65) 2.61 (0.67-10.1)
Any key functional domain rMS or in-frame indel*
  MRE11A¢ 10 1   
  RAD50 10 2   
  NBN 4 2   
Total 24 5 4.18 (1.59-11.0) 3.17 (1.17-8.59)
Key functional domain rMS (severity > C0) or in-frame indel*
  MRE11A¢ 7 1   
  RAD50 10 2   
  NBN 3 1   
Total 20 4 4.34 (1.48-12.7) 3.07 (1.01-9.31)
T + SJV¥ plus key functional domain rMS (severity > C0) or in-frame indel*
  MRE11A¢ 8 1   
  RAD50$ 14 5   
  NBN 7 1   
Total 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. $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). *The key functional domains are defined in Figure 1. The set of variants includes rare missense substitutions with A-GVGD scores > C0, and final exon nonsense and frameshift variants if they also fall in a key functional domain. ¢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. OR, odds ratio; CI, confidence interval.