Our team previously reported the BReast CAncer gene 2 (BRCA2) p.K3326* mutation as a moderately penetrant ESCC susceptibility variant in northern Iran (odds ratio (OR) = 3.64, 95% confidence interval (CI) = 1.74–7.59, P = 0.0003). The gene discussed is BRCA2; the disease is esophageal squamous cell carcinoma.