A germline E-cadherin mutation in a family with gastric and colon cancer

  • Authors: S. Salahshor, H. Hou, C. B. Diep, A. Loukola, H. Zhang, T. Liu, J. Chen, L. Iselius, C. Rubio, R. A. Lothe, L. Aaltonen, X.-F. Sun, G. Lindmark, A. Lindblom
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  • Published online on: Monday, October 1, 2001
  • Pages: 439-443
  • DOI: 10.3892/ijmm.8.4.439

Abstract

Inactivating mutations have been found in the cell-cell adhesion molecule E-cadherin (CDH1), which acts as a tumor suppressor gene in different kinds of cancers, e.g. primarily diffuse gastric cancer and lobular breast cancer. In this study, we screened for germline alterations in familial gastric and colon cancer cases. In total, 20 gastric and 18 colon cancer patients with both familial gastric and colon cancer were tested for germline E-cadherin alterations by using PCR/SSCP, specific restriction digestion test and sequencing. No pathogenic mutations were identified in the gastric cancer patients. In two colon cancer patients, a missense mutation in exon 12, codon 592 (Ala592Thr) was found. This alteration segregated with diffuse gastric cancer and colon cancer in one of the families. The prevalence of this alteration in the general population and colon cancer cases was almost the same. However, the fact that this alteration (Ala592Thr) segregated with colon cancer and diffuse gastric cancer in one big family, suggests that this E-cadherin missense alteration, beside predisposing to diffuse gastric cancer, also may play a role in colorectal carcinogenesis.
Journal Cover

October 2001
Volume 8 Issue 4

Print ISSN: 1107-3756
Online ISSN:1791-244X

2013 Impact Factor: 1.88
Ranked #27/122 Medicine Research and Experimental
(total number of cites)

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APA
Salahshor, S., Hou, H., Diep, C., Loukola, A., Zhang, H., Liu, T., Chen, J., Iselius, L., Rubio, C., Lothe, R., Aaltonen, L., Sun, X., Lindmark, G., & Lindblom, A. (2001). A germline E-cadherin mutation in a family with gastric and colon cancer. International Journal of Molecular Medicine, 8(4), 439-443.
MLA
Salahshor, Hou, Diep, Loukola, Zhang, Liu, Chen, Iselius, Rubio, Lothe, Aaltonen, Sun, Lindmark, and A. Lindblom. "A germline E-cadherin mutation in a family with gastric and colon cancer." International Journal of Molecular Medicine International Journal of Molecular Medicine 8.4 (2001): 439-443.
Chicago
Salahshor, Hou, Diep, Loukola, Zhang, Liu, Chen, Iselius, Rubio, Lothe, Aaltonen, Sun, Lindmark, and A. Lindblom. "A germline E-cadherin mutation in a family with gastric and colon cancer." International Journal of Molecular Medicine International Journal of Molecular Medicine 8 no. 4 (2001): 439-443.