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.
Control cohort (1/532) | In-house control exomesa (2/2,329) | ExACb (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 |
aIn-house data set of sequenced exomes;
bExAC, Exome Aggregation consortium10;
Abbreviations: OR, odds ratio; CI, confidence interval.