title: Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation.
abstract: 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.
authors.affiliation: Institute of Pathology, Department of Surgery, Technische Universität München, Munich, Germany. gisela.keller@lrz.tum.de
authors.forename: G
authors.initials: G
authors.lastname: Keller
authors.forename: H
authors.initials: H
authors.lastname: Vogelsang
authors.forename: I
authors.initials: I
authors.lastname: Becker
authors.forename: J
authors.initials: J
authors.lastname: Hutter
authors.forename: K
authors.initials: K
authors.lastname: Ott
authors.forename: S
authors.initials: S
authors.lastname: Candidus
authors.forename: T
authors.initials: T
authors.lastname: Grundei
authors.forename: K F
authors.initials: KF
authors.lastname: Becker
authors.forename: J
authors.initials: J
authors.lastname: Mueller
authors.forename: J R
authors.initials: JR
authors.lastname: Siewert
authors.forename: H
authors.initials: H
authors.lastname: Höfler
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D015820:Cadherins / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology; D018275:Carcinoma, Lobular / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006239:Haplotypes; D006801:Humans; D007150:Immunohistochemistry; D019656:Loss of Heterozygosity; D008297:Male; D010375:Pedigree; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D015820:Cadherins