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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.
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Breast Cancer Research

ISSN: 1465-542X

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