Whole exome sequencing to uncover genetic variants underlying congenital cystic adenomatoid malformations

Abstract

1. Congenital pulmonary airway malformation is a risk factor for paediatric adenocarcinoma of the lungs. 2. Both point mutations in coding sequences and copy number variants involving gene deletions and duplications are recurrently mutated in patients with congenital pulmonary airway malformation but not in the general population. 3. Congenital pulmonary airway malformation is genetically heterogeneous with different mutated genes in different patients. Mutations in more than one gene and/or copy number variants involving several genes are required to give rise to the developmental anomaly. 4. Despite the diversity, mutated genes encode interacting proteins that are members of the same cancer pathway may be a potential therapeutic target.