Among all variants (SNVs, splice sites and SVs) in 100 genes shared by the six individuals from the three families, we identified variants in three genes associated with oesophageal disease, namely CCDC144NL, DEFB4A and PDS5B, bringing further support for a molecular link between OA and oesophageal cancer. This evidence concerns the gene DEFB4A and carcinoma of esophagus.