Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma
![]() ![]() |
Kim, Sol-Lip
(Department of Laboratory Medicine, Ilsan Paik Hospital, Inje University College of Medicine)
Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Kim, Kyoung-Mee (Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Myoung-Gun (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Kim, Se-Hwa (Department of Health Science and Technology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Bae, Jae-Moon (Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine) Kim, Jong-Won (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) |
1 | American Joint Committee in Cancer (2002) AJCC Cancer Staging Manual. 6th ed. Springer, Chicago, Ill., USA. |
2 | Yoon, K. A., Ku, J. L., Yang, H. K., Kim, W. H., Park, S. Y. and Park, J. G. (1999) Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. J. Hum. Genet. 44, 177-180. DOI |
3 | Kim, I. J., Kang, H. C., Shin, Y., Park, H. W., Jang, S. G., Han, S. Y., Lim, S. K., Lee, M. R., Chang, H. J., Ku, J. L., Yang, H. K. and Park, J. G. (2004) A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. J. Hum. Genet. 49, 591-595. DOI |
4 | Dicken, B. J., Bigam, D. L., Cass, C., Mackey, J. R., Joy, A. A. and Hamilton, S. M. (2005) Gastric adenocarcinoma: review and considerations for future directions. Ann. Surg. 241, 27-39. |
5 | Rogers, W. M., Dobo, E., Norton, J. A., Van Dam, J., Jeffrey, R. B., Huntsman, D. G., Kingham, K., Chun, N., Ford, J. M. and Longacre, T. A. (2008) Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am. J. Surg. Pathol. 32, 799-809. DOI ScienceOn |
6 | Houdayer, C., Dehainault, C., Mattler, C., Michaux, D., Caux-Moncoutier, V., Pages-Berhouet, S., d'Enghien, C. D., Lauge, A., Castera, L., Gauthier-Villars, M. and Stoppa-Lyonnet, D. (2008) Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum. Mutat. 29, 975-982. DOI ScienceOn |
7 | Pharoah, P. D., Guilford, P. and Caldas, C. (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121, 1348-1353. DOI ScienceOn |
8 | Caldas, C., Carneiro, F., Lynch, H. T., Yokota, J., Wiesner, G. L., Powell, S. M., Lewis, F. R., Huntsman, D. G., Pharoah, P. D., Jankowski, J. A., MacLeod, P., Vogelsang, H., Keller, G., Park, K. G., Richards, F. M., Maher, E. R., Gayther, S. A., Oliveira, C., Grehan, N., Wight, D., Seruca, R., Roviello, F., Ponder, B. A. and Jackson, C. E. (1999) Familial gastric cancer: overview and guidelines for management. J. Med. Genet. 36, 873-880. |
9 | Ziogas, D. and Roukos, D. H. (2009) CDH1 testing: can it predict the prophylactic or therapeutic nature of total gastrectomy in hereditary diffuse gastric cancer? Ann. Surg. Oncol. 16, 2678-2681. DOI |
10 | Brooks-Wilson, A. R., Kaurah, P., Suriano, G., Leach, S., Senz, J., Grehan, N., Butterfield, Y. S., Jeyes, J., Schinas, J., Bacani, J., Kelsey, M., Ferreira, P., MacGillivray, B., MacLeod, P., Micek, M., Ford, J., Foulkes, W., Australie, K., Greenberg, C., LaPointe, M., Gilpin, C., Nikkel, S., Gilchrist, D., Hughes, R., Jackson, C. E., Monaghan, K. G., Oliveira, M. J., Seruca, R., Gallinger, S., Caldas, C. and Huntsman, D. (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J. Med. Genet. 41, 508-517. DOI |
11 | Graziano, F., Humar, B. and Guilford, P. (2003) The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice. Ann. Oncol. 14, 1705-1713. DOI ScienceOn |
12 | Humar, B. and Guilford, P. (2009) Hereditary diffuse gastric cancer: a manifestation of lost cell polarity. Cancer Sci. 100, 1151-1157. DOI ScienceOn |
![]() |