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

Table 3 Analyses of largely innocuous groups of rare variants

Class	Cases, n	Controls, n	Crude OR (95% CI)	Adjusted OR^†(95% CI)
Noncarriers	1,240	1,060
Silent	10	10	0.85 (0.35-2.06)	0.95 (0.38-2.39)
Splice	14	13	0.92 (0.43-1.96)	0.62 (0.28-1.39)
Any rMS or in-frame indel^¥	48	38	1.08 (0.70-1.67)	0.96 (0.61-1.50)

^†In these binary logistic regressions, the regression coefficient = ln(OR). ^¥Includes the carrier of the RAD50 final exon frameshift c.3852del4, which we treat as an in-frame deletion because it should not cause nonsense-mediated decay. One subject (a case) carried both a rare innocuous splice donor variant and a rare silent substitution. For analyses summarized in this table, this subject was categorized as a carrier of an innocuous splice junction variant. Four subjects (one case and three controls) carried both a rare missense substitution and a rare silent substitution. For analyses summarized in this table, these subjects were categorized as carriers of a rare missense substitution. One subject (a case) carried both a rare missense substitution and a rare innocuous splice acceptor variant. For analyses summarized in this table, this subject was categorized as a carrier of a rare missense substitution. Two subjects (one case and one control) carried two rare missense substitutions. In this table, these subjects were categorized as carriers of a rare missense substitution. OR, odds ratio; CI, confidence interval.

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