Mutation of the Multiple Endocrine Neoplasia type 1 gene in nonfamilial malignant tumors of the endocrine pancreas

作者: Ola Hessman , Tobias Carling , Göran Åkerström , Per Hellman , Britt Skogseid

DOI:

关键词: PancreasGene mutationMultiple endocrine neoplasiaCancer researchMEN1Endocrine systemCarcinogenesisLoss of heterozygosityBiologyPancreatic disease

摘要: Endocrine pancreatic tumors are rare neoplasms that occur sporadically or as part of a multiple endocrine neoplasia type 1 (MEN1) syndrome. Germ-line mutations the MEN1 gene, located at 11q13, have been demonstrated in kindreds, and loss heterozygosity (LOH) on 11q13 together with somatic detected 20% nonfamilial parathyroid tumors. Here, we examine 11 non-MEN1 malignant pancreas, 9 nonfunctioning tumors, 2 glucagonomas. LOH least one informative locus was found 70% Three displayed gene whereas corresponding germ-line DNA normal. These findings support hypothesis contribute to tumorigenesis nonfamilial,

参考文章(8)
Britt Skogseid, Multiple endocrine neoplasia type I Clinical genetics and diagnosis Cancer Treatment and Research. ,vol. 89, pp. 383- 406 ,(1997) , 10.1007/978-1-4615-6355-6_18
K. Oberg, S. Werner, M. Nordenskjold, C. Bystrom, C. Larsson, C. Blomberg, K. Sandelin, U. Falkmer, B. Skogseid, Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors Proceedings of the National Academy of Sciences of the United States of America. ,vol. 87, pp. 1968- 1972 ,(1990) , 10.1073/PNAS.87.5.1968
D C Chung, A P Smith, D N Louis, F Graeme-Cook, A L Warshaw, A Arnold, A novel pancreatic endocrine tumor suppressor gene locus on chromosome 3p with clinical prognostic implications. Journal of Clinical Investigation. ,vol. 100, pp. 404- 410 ,(1997) , 10.1172/JCI119547
Mark P. Sawicki, Yu-Jui Yvonne Wan, Carey L. Johnson, James Berenson, Richard Gatti, Edward Passaro, Loss of heterozygosity on chromosome 11 in sporadic gastrinomas. Human Genetics. ,vol. 89, pp. 445- 449 ,(1992) , 10.1007/BF00194320
A.J. Sandford, T. Shirakawa, M.F. Moffat, S.E. Daniels, J.A. Faux, R.P. Young, W.O.C.M. Cookson, C. Ra, Y. Nakamura, G.M. Lathrop, J.M. Hopkin, Localisation of atopy and β subunit of high-affinity IgE receptor (Fc∈RI) on chromosome 11q The Lancet. ,vol. 341, pp. 332- 334 ,(1993) , 10.1016/0140-6736(93)90136-5
Sophie Giraud, Hélène Choplin, Bin Tean Teh, James Lespinasse, Anne Jouvet, Françoise Labat-Moleur, Gilbert Lenoir, Béatrice Hamon, Patrick Hamon, Alain Calender, A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. The Journal of Clinical Endocrinology and Metabolism. ,vol. 82, pp. 3487- 3492 ,(1997) , 10.1210/JCEM.82.10.4052
Settara C Chandrasekharappa, Siradanahalli C Guru, Pachiappan Manickam, Shodimu-Emmanuel Olufemi, Francis S Collins, Michael R Emmert-Buck, Larisa V Debelenko, Zhengping Zhuang, Irina A Lubensky, Lance A Liotta, Judy S Crabtree, Yingping Wang, Bruce A Roe, Jane Weisemann, Mark S Boguski, Sunita K Agarwal, Mary Beth Kester, Young S Kim, Christina Heppner, Qihan Dong, Allen M Spiegel, A Lee Burns, Stephen J Marx, Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1 Science. ,vol. 276, pp. 404- 407 ,(1997) , 10.1126/SCIENCE.276.5311.404
Sunita K Agarwal, Mary Beth Kester, Larisa V Debelenko, Christina Heppner, Michael R Emmert-Buck, Monica C Skarulis, John L Doppman, Young S Kim, Irina A Lubensky, Zhengping Zhuang, Jane S Green, Sirandanahalli C Guru, Pachiappan Manickam, Shodimu-Emmanuel Olufemi, Lance A Liotta, Settara C Chandrasekharappa, Francis S Collins, Allen M Spiegel, A Lee Burns, Stephen J Marx, Germline Mutations of the MEN1 Gene in Familial Multiple Endocrine Neoplasia Type 1 and Related States Human Molecular Genetics. ,vol. 6, pp. 1169- 1175 ,(1997) , 10.1093/HMG/6.7.1169