Hereditary Diffuse Gastric Cancer and Other Gastric Cancers Associated with Hereditary Predisposition Syndromes

摘要: Gastric cancer is a heterogeneous and highly prevalent disease, being the fourth most common second leading cause of cancer-associated death worldwide. Most cases gastric are sporadic, familial aggregation occurs in about 10 % cases. In 1998, Guilford et al identified first inherited syndrome, which was designated as Hereditary Diffuse Cancer (HDGC) shown to be caused by germline alterations at E-cadherin/CDH1 gene. HDGC families, penetrance >80 age 80 both genders, lobular breast 60 women 80. To date, 120 families/probands have been described harbor 99 different CDH1 alterations, mainly point mutations large deletions. A third all families so far carry recurrent alterations. Full screening gene (genetic testing) recommended families/patients fulfilling criteria. Total gastrectomy only reliable intervention therefore for carriers pathogenic this chapter, we will discuss currently accepted definition clinical criteria well guidelines genetic counseling molecular screening. Moreover, pathology, frequency type other candidate genes associated syndromes, available animal models cell culture disease presented. Finally, treatment options, prophylactic gastrectomy, potential targets therapy discussed light knowledge obtained from patients/families basic research experiments.