To date, heterozygous CDH1 germline mutations have been described to be causative of specific types of hereditary cancer, mainly diffuse gastric cancer [20] and invasive lobular breast cancer [63], and on the other hand of congenital malformations involving the face, i.e. blepharocheilodontic syndrome and cleft lip/palate [14]. The gene discussed is CDH1; the disease is Familial gastric cancer.