This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Shintani, S. Articles by Wong, D. T.W. Search for Related Content PubMed PubMed Citation Articles by Shintani, S. Articles by Wong, D. T.W.

Intragenic Mutation Analysis of the Human Epidermal Growth Factor Receptor (EGFR) Gene in Malignant Human Oral Keratinocytes¹

Laboratory of Molecular Pathology, Division of Oral Pathology, Department of Oral Medicine and Diagnostic Sciences, Harvard University School of Dental Medicine [S. S., K. M., C. C. C., J. M., T. T., R. B. D., R. T., D. T. W. W.], and Head and Neck Oncology Group, Dana Farber Cancer Institute [M. P.], Boston, Massachusetts 02115

Alteration in epidermal growth factor receptor (EGFR) expression is frequently associated with malignant transformation of epithelial tissues, including oral mucosa. This study examines the mutations in the coding region of the human EGFR gene in normal and malignant human oral keratinocytes. To examine the intragenic mutations in the human EGFR gene, a panel of normal and malignant human oral keratinocytes were examined by a nonisotopic RNase cleavage assay. Two consistent alterations were detected. First, a polymorphism, which generates a unique BsrI restriction site, was detected at position 2073. This BsrI polymorphism was present only in malignant keratinocytes. Second, Southern blot hybridization of PCR products revealed that there is a truncated EGFR mRNA (1.5-kb) in oral squamous cell carcinoma cell lines. Similar analysis in normal cell lines revealed that this truncated EGFR transcript is also present. Immunoblotting revealed the presence of this truncated form of EGFR in all keratinocyte cell lines. These data permit us to conclude that there exists a novel truncated form of EGFR in human oral keratinocytes. Furthermore, there exists a tumor-associated BsrI polymorphic site at position 2073. The potential biological relevance of the truncated receptor and the utility of the BsrI polymorphic site for diagnostic applications are currently being explored.

This article has been cited by other articles:

				K. Kitao, S. Yoshida, S. Kennedy, N. Takemura, M. Sugimoto, M. Deguchi, N. Ohara, and T. Maruo Epidermal Growth Factor Receptor and Human Epidermal Growth Factor Receptor 2 Gene Polymorphisms in Endometrial Cancer in a Japanese Population Reproductive Sciences, May 1, 2007; 14(4): 349 - 357. [Abstract] [PDF]

				Y.-Y. Hsieh, Y.-K. Wang, C.-C. Chang, and C.-S. Lin Estrogen receptor {alpha}-351 XbaIG and -397 PvuIIC-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma Mol. Hum. Reprod., February 1, 2007; 13(2): 117 - 122. [Abstract] [Full Text] [PDF]

				J. C. Sok, F. M. Coppelli, S. M. Thomas, M. N. Lango, S. Xi, J. L. Hunt, M. L. Freilino, M. W. Graner, C. J. Wikstrand, D. D. Bigner, et al. Mutant Epidermal Growth Factor Receptor (EGFRvIII) Contributes to Head and Neck Cancer Growth and Resistance to EGFR Targeting Clin. Cancer Res., September 1, 2006; 12(17): 5064 - 5073. [Abstract] [Full Text] [PDF]

				M Groschl, H-G Topf, J Kratzsch, J Dotsch, W Rascher, and M Rauh Salivary leptin induces increased expression of growth factors in oral keratinocytes J. Mol. Endocrinol., April 1, 2005; 34(2): 353 - 366. [Abstract] [Full Text] [PDF]

				Y.-Y. Hsieh, C.-C. Chang, F.-J. Tsai, C.-M. Hsu, C.-C. Lin, and C.-H. Tsai Angiotensin I-converting enzyme ACE 2350*G and ACE-240*T-related genotypes and alleles are associated with higher susceptibility to endometriosis Mol. Hum. Reprod., January 1, 2005; 11(1): 11 - 14. [Abstract] [Full Text] [PDF]

				C-M Huang, C-H Tsai, C-L Chen, C-P Chang, C-C Lai, and F-J Tsai Epidermal growth factor receptor (EGFR) gene Bsr I polymorphism is associated with systemic lupus erythematosus Lupus, October 1, 2004; 13(10): 773 - 776. [Abstract] [PDF]

				J. L. Reiter, G. Eley, C. D. James, N. J. Maihle, and D. Wong Correspondence re: S. Shintani et al., Intragenic Mutation Analysis of the Human Epidermal Growth Factor Receptor (EGFR) Gene in Malignant Human Oral Keratinocytes. Cancer Res., 59: 4142-4147, 1999. Cancer Res., February 1, 2001; 60(3): 766 - 766. [Full Text]