Japanese Journal of Clinical Oncology 33:17-20 (2003)
© 2003 Foundation for Promotion of Cancer Research
Ile–Leu Substitution (I415L) in Germline E-cadherin Gene (CDH1) in Japanese Familial Gastric Cancer
1 First Department of Pathology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 2 Department of Surgery, Toho University School of Medicine, Tokyo and 3 Biology Division, National Cancer Center Research Institute, Tokyo, Japan
Background. Germline mutation in the cell adhesion molecule E-cadherin is known to be associated with the development of undifferentiated or diffuse-type familial gastric cancers, but the prevalence of this contribution seems to be low in Japanese familial cases, so far.
Methods. We screened all exons of the E-cadherin gene for mutations in 101 Japanese patients having an intense family history of gastric cancers.
Results. An abnormal band pattern was found in exon 9 in three patients (Y6, B21, B37) from two families by PCR–SSCP. DNA sequencing analysis of these three patients revealed isoleucine–leucine substitution at codon 415 in exon 9. B21 and B37 are siblings and the other three brothers died of gastric cancer and another brother (B36) has not been affected by gastric cancer to date. This case (B36) did not have this alteration in the exon 9 of E-cadherin.
Conclusion. Although the mechanistic basis is not clear, our findings may provide a possibility that this additional missense mutation in germline E-cadherin gene may contribute to gastric cancer predisposition.
+ For reprints and all correspondence: Haruhiko Sugimura, First Department of Pathology, Hamamatsu University School of Medicine, 1–20–1 Handayama, Hamamatsu 431-3192, Japan. E-mail: hsugimur@hama-med.ac.jp
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  F Carneiro, C Oliveira, G Suriano, and R Seruca Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer J. Clin. Pathol., January 1, 2008; 61(1): 25 - 30. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Yamada, K. Shinmura, K. Okudela, M. Goto, M. Suzuki, K. Kuriki, T. Tsuneyoshi, and H. Sugimura Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population Carcinogenesis, September 1, 2007; 28(9): 2013 - 2018. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J T Bacani, M Soares, R Zwingerman, N di Nicola, J Senz, R Riddell, D G Huntsman, and S Gallinger CDH1/E-cadherin germline mutations in early-onset gastric cancer J. Med. Genet., November 1, 2006; 43(11): 867 - 872. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Oliveira, R. Seruca, and F. Carneiro Genetics, Pathology, and Clinics of Familial Gastric Cancer International Journal of Surgical Pathology, January 1, 2006; 14(1): 21 - 33. [Abstract] [PDF]
|
|
|
|
|
|
H. Tao, K. Shinmura, T. Hanaoka, S. Natsukawa, K. Shaura, Y. Koizumi, Y. Kasuga, T. Ozawa, T. Tsujinaka, Z. Li, et al. A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus Carcinogenesis, October 1, 2004; 25(10): 1859 - 1866. [Abstract] [Full Text] [PDF]
|
|