Table 2 Enrichment analyses for known deleterious BLM mutations in early-onset CRC cases compared to a cohort of population-matched controls in in-house and public databases.

From: Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

 

Control cohort (1/532)

In-house control exomes a (2/2,329)

ExAC b (71/61,486)

 

OR: 8.67

OR: 18.99

OR: 14.15

Replication cohort (3/185)

95% CI, 0.69–455.36

95% CI, 2.17–227.56

95% CI, 2.85–43.37

 

P = 0.05516

P = 0.003534

P = 0.001482

  1. aIn-house data set of sequenced exomes;
  2. bExAC, Exome Aggregation consortium10;
  3. Abbreviations: OR, odds ratio; CI, confidence interval.
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