Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis

作者: Rachel S. van der Post , Carolien M. Kets , Marjolijn J. L. Ligtenberg , Joannes H. J. M. van Krieken , Nicoline Hoogerbrugge

DOI: 10.1007/S00428-008-0701-Y

关键词:

摘要: Identifying patients with germline MUTYH mutation-associated polyposis is presently difficult. The aim of this study to investigate the possibilities IHC as a screening test select for mutation analysis. expression protein in colorectal adenomas or cancer was studied by using three different (1 polyclonal and 2 monoclonal) antibodies six samples from biallelic mutations, single mutation, 11 without mutations. With antibody, carcinomas mutations showed strong supranuclear cytoplasmic staining epithelial nuclear staining. also observed nine out Samples incubated monoclonal non-specific pattern. Our results demonstrate that, contrast previous data, neoplastic cells does not discriminate mutated unmutated cases. At present, cannot be used clinical practice differentiate between tissue

参考文章(14)
Istvan Boldogh, Daun Milligan, Myung Soog Lee, Heather Bassett, R Stephen Lloyd, Amanda K McCullough, hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs Nucleic Acids Research. ,vol. 29, pp. 2802- 2809 ,(2001) , 10.1093/NAR/29.13.2802
Daqing Gao, Chiming Wei, Lei Chen, Jiawen Huang, Shiqi Yang, Anna Mae Diehl, Oxidative DNA damage and DNA repair enzyme expression are inversely related in murine models of fatty liver disease. American Journal of Physiology-gastrointestinal and Liver Physiology. ,vol. 287, ,(2004) , 10.1152/AJPGI.00228.2004
Ning Gao, Daniel C. Flynn, Zhuo Zhang, Xiao-Song Zhong, Valerie Walker, Ke Jian Liu, Xianglin Shi, Bing-Hua Jiang, G1 cell cycle progression and the expression of G1 cyclins are regulated by PI3K/AKT/mTOR/p70S6K1 signaling in human ovarian cancer cells. American Journal of Physiology-cell Physiology. ,vol. 287, ,(2004) , 10.1152/AJPCELL.00422.2003
Carmela Di Gregorio, Milo Frattini, Stefania Maffei, Giovanni Ponti, Lorena Losi, Monica Pedroni, Tiziana Venesio, Lucio Bertario, Liliana Varesco, Mauro Risio, Maurizio Ponz de Leon, Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. Gastroenterology. ,vol. 131, pp. 439- 444 ,(2006) , 10.1053/J.GASTRO.2006.05.049
Lara Lipton, Ian Tomlinson, The genetics of FAP and FAP-like syndromes. Familial Cancer. ,vol. 5, pp. 221- 226 ,(2006) , 10.1007/S10689-005-5673-3
Nada Al-Tassan, Nikolas H. Chmiel, Julie Maynard, Nick Fleming, Alison L. Livingston, Geraint T. Williams, Angela K. Hodges, D. Rhodri Davies, Sheila S. David, Julian R. Sampson, Jeremy P. Cheadle, Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors Nature Genetics. ,vol. 30, pp. 227- 232 ,(2002) , 10.1038/NG828
Oliver M. Sieber, Lara Lipton, Michael Crabtree, Karl Heinimann, Paulo Fidalgo, Robin K.S. Phillips, Marie-Luise Bisgaard, Torben F. Orntoft, Lauri A. Aaltonen, Shirley V. Hodgson, Huw J.W. Thomas, Ian P.M. Tomlinson, Multiple Colorectal Adenomas, Classic Adenomatous Polyposis, and Germ-Line Mutations inMYH New England Journal of Medicine. ,vol. 348, pp. 791- 799 ,(2003) , 10.1056/NEJMOA025283
A. R. Parker, J. R. Eshleman, Human MutY: gene structure, protein functions and interactions, and role in carcinogenesis. Cellular and Molecular Life Sciences. ,vol. 60, pp. 2064- 2083 ,(2003) , 10.1007/S00018-003-3053-4
Jyy-Jih Tsai-Wu, Ho-Ting Su, Ya-Lei Wu, Su-Ming Hsu, C.H. Herbert Wu, Nuclear localization of the human mutY homologue hMYH. Journal of Cellular Biochemistry. ,vol. 77, pp. 666- 677 ,(2000) , 10.1002/(SICI)1097-4644(20000615)77:4<666::AID-JCB14>3.0.CO;2-X
Antony R. Parker, Oliver M. Sieber, Chanjuan Shi, Li Hua, Masashi Takao, Ian P. Tomlinson, James R. Eshleman, Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair Carcinogenesis. ,vol. 26, pp. 2010- 2018 ,(2005) , 10.1093/CARCIN/BGI166