BLM and colorectal carcinoma: We identified heterozygous deleterious BLM mutations in three out of 185 CRC cases: one splice site mutation (c.98 + 1G > A) and two nonsense mutations (c.1642C > T; p.Gln548* and c.2695C > T; p.Arg899* mutation, 1.6%; Fig. 1a and Table 1), and in one out of 532 control samples (c.1642C > T; p.Gln548*, 0.2%), which points towards an enrichment in early-onset CRC cases compared to controls with borderline significance (OR = 8.67; 95% CI, 0.69–455.36; P = 0.05516).