Diffuse Type Gastric and Lobular Breast Carcinoma in a Familial Gastric Cancer Patient with an E-Cadherin Germline Mutation Gisela Keller, Holger Vogelsang,

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Diffuse Type Gastric and Lobular Breast Carcinoma in a Familial Gastric Cancer Patient with an E-Cadherin Germline Mutation Gisela Keller, Holger Vogelsang, Ingrid Becker, Jörg Hutter, Katja Ott, Sonja Candidus, Tobias Grundei, Karl-Friedrich Becker, James Mueller, Jörg R. Siewert, Heinz Höfler The American Journal of Pathology Volume 155, Issue 2, Pages 337-342 (August 1999) DOI: 10.1016/S0002-9440(10)65129-2 Copyright © 1999 American Society for Investigative Pathology Terms and Conditions

Figure 1 Sequence analysis of exon 3 of the E-cadherin gene and pedigree of the gastric cancer family with the E-cadherin germline mutation. A. The wild-type sequence in comparison with the heterozygote mutation, found in one of the seven unrelated analyzed gastric cancer patients, is shown. An overlapping pattern is observed (arrow) starting at the deletion point of the “C” corresponding to nucleotide position 372–377. B: Pedigree of the family. Squares represent males. circles, females; symbols marked with a diagonal represent deceased individuals. Open symbols indicate no neoplasm and filled symbols represent persons with carcinomas of the stomach (sto) and breast (br). Numbers beside the symbols indicate age at diagnosis; arrow, analyzed proband. The germline mutation in exon 3 in the E-cadherin gene was found in the normal DNA of the proband and in the normal DNA of her mother. The mutation was not found in the normal DNA of the 69-year-old sister of the mother of the proband. The children of the proband were not analyzed. The American Journal of Pathology 1999 155, 337-342DOI: (10.1016/S0002-9440(10)65129-2) Copyright © 1999 American Society for Investigative Pathology Terms and Conditions

Figure 2 Immunohistochemical analysis of E-cadherin expression. a and b: Invasive gastric carcinoma in the muscularis propria of the stomach of the proband (autopsy material). Positive immunostaining of the cell membrane and diffuse and granular cytoplasmic staining of the tumor cells with the antibodies HECD-1 (a) and AEC (b) are shown. Magnification, ×880. c and d: Invasive carcinoma cells of the gastric diffuse type carcinoma of the proband's mother (resection specimen). A reduced granular cytoplasmic staining pattern with antibody HECD-1 (c) is shown. No protein expression was detected with antibody AEC (d). The normal gastric glands used as internal controls exhibited a strong cell membrane-associated immunostaining with both antibodies. Magnification, ×880. e and f: Lobular breast carcinoma of the proband's mother (resection specimen). No immunoreactivity in the carcinoma was detected with antibody HECD-1 (e). Antibody AEC (f. revealed nuclear and reduced diffuse cytoplasmic staining of the tumor cells. Magnification, ×880. Insert shows normal cell membrane-associated staining of normal ductal cells for each antibody. Magnification, ×880. The American Journal of Pathology 1999 155, 337-342DOI: (10.1016/S0002-9440(10)65129-2) Copyright © 1999 American Society for Investigative Pathology Terms and Conditions