Overall, a total of seven pathogenic RAD50 LOF variants were detected at exons 8, 13, 17, 19, and 23 in 15 individuals (Table 2) consisting of seven familial ESCC (Figure 1a), four sporadic ESCC patients (Figure 1b), and four control individuals (Figure 1c). This evidence concerns the gene RAD50 and esophageal squamous cell carcinoma.