Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation

摘要: E-Cadherin alterations have been reported frequently in sporadic diffuse type gastric and lobular breast carcinomas. Germline mutations of this gene identified recently several cancer families. We analyzed seven patients with a family history the disease who had diagnosed before age 45 for germline CDH1, encoding E-cadherin protein. frameshift mutation exon 3 one patient strong cancer. The same was found patient's mother, metachronous development Immunohistochemistry protein expression revealed an abnormal staining pattern both these tumors, suggesting complete inactivation cell adhesion molecule. Thus, our finding suggests that besides cancer, carcinomas may be associated CDH1 mutations.