Genetic Overview of Esophageal Cancer

Esophageal cancer (EC) is the seventh most common malignancy worldwide. The majority of ECs are esophageal squamous cell carcinomas (ESCCs) or esophageal adenocarcinomas (EACs). The epidemiological and etiological bases of histopathological subgroups in EC are different from each other; they have different molecular genetic changes, different risk factors, and even different geographical backgrounds. Genetic changes such as germline mutations that cause predisposition to EC or somatic mutations that direct the diagnosis, prognosis, and treatment planning are important in the management of the disease. However, despite numerous studies conducted to identify these genetic changes, there is no clear list of genes. Within all this genetic diversity, the TP53 gene seems to have a bigger role than other genes both in the predisposition to and prognosis of esophageal cancer. In this chapter, these diverse germline and somatic genetic factors and pathways, including genetic and epigenetic modifications, are discussed according to the multiple literature studies.