Likewise, in the burden analyses (Table 1), the numbers of pathogenic mutations from TP53 (14/424, or 3.30%; burden test p = 3.050 × 10−3), BRCA2 (5/424, or 1.18%; burden test p = 0.015), and RECQL4 (6/424, or 1.14%; burden test p = 0.035) in our Chinese ESCC cohort were higher than those observed in the 1000 Genomes Project EAS group. Here, RECQL4 is linked to esophageal squamous cell carcinoma.