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Table 5 Number of patients and frequency-matched controls required for various scales of future intermediate-risk gene case-control mutation-screening studiesa

From: Rare, evolutionarily unlikely missense substitutions in CHEK2contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

Study scale Single genes Whole pathwaysb Whole exomec
Type I error 0.05 0.0005 2.5 × 10-6
Power 0.80 0.80 0.80
rMS alone, n 1,975 4,700 7,725
T+SJV alone, n 1,425 3,400 5,600
rMS plus T+SJV, n 850 2,025 3,350
  1. a rMS, rare missense substitution; T+SJV, protein-truncating variants plus splice junction variant; b Calculated for 100 genes, approximately the gene count of DNA double-stranded break repair and associated cell cycle checkpoints; cCalculated for 20,000 genes.