MSX1 may be involved in the malignant progression of BE into EAC for familial cases as well as for sporadic cases, however somatic mutations in MSX1 were identified in a very low frequency by Dulak et al. (p.R158W, p.F151L, p.P153P) [24], suggesting a prominent role of this germline defect in the development of BE and EAC in this particular family. Here, MSX1 is linked to Barrett esophagus.