Esophageal cancer has traditionally been considered a sporadic disease of the elderly. However, recently it has become increasingly clear that this type of cancer comprises a relatively heterogeneous population of patients, including sporadic, hereditary or exceptionally young aged EAC cases. For these subgroups of patients with EAC, information regarding the clinicopathological characteristics, patient-tailored treatments and prognosis is currently lacking. It can be hypothesized that the molecular biology of these subgroups is distinct from a “conventional” EAC patient.

Hence, the aim of this thesis was to elucidate the molecular biology of EAC by performing standard molecular analysis, i.e. whole-exome sequencing, targeted sequencing and Sanger sequencing on sporadic, familial and young EAC cases. As well as to describe the clinicopathological features of the familial and young subpopulations of EAC.