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(American Journal of Pathology. 1999;155:337-342.)
© 1999 American Society for Investigative Pathology

Short Communication

Diffuse Type Gastric and Lobular Breast Carcinoma in a Familial Gastric Cancer Patient with an E-Cadherin Germline Mutation

Gisela Keller*, Holger Vogelsang{dagger}, Ingrid Becker*, Jörg Hutter{ddagger}, Katja Ott{dagger}, Sonja Candidus*, Tobias Grundei{dagger}, Karl-Friedrich Becker*, James Mueller{dagger}, Jörg R. Siewert{dagger} and Heinz Höfler*§

From the Institute of Pathology*
and the Department of Surgery,{dagger}
Technische Universität München, Munich, Germany; the Department of Surgery,{ddagger}
Landeskrankenanstalten Salzburg, Salzburg, Austria; and the Institute of Pathology,§
National Research Center for Environment and Health-Forschungszentrum, Oberschleissheim, Germany

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




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Copyright © 1999 by the American Society for Investigative Pathology.