Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

作者: Viviana Gismondi , Maurizio Meta , Luigina Bonelli , Paolo Radice , Paola Sala

DOI: 10.1002/IJC.20054

关键词: GeneticsGermlineMUTYHBiologyColorectal adenomaAdenomatous polyposis coliPopulationAdenomaCancer researchGermline mutationMUTYH-Associated Polyposis

摘要: Biallelic germline mutations in the base excision repair gene MYH have been reported in patients with multiple colorectal adenomas and cancer and in sporadic FAP patients not …

参考文章(15)
Julian R Sampson, Sunil Dolwani, Sian Jones, Diana Eccles, Anthony Ellis, D Gareth Evans, Ian Frayling, Sheila Jordan, Eamonn R Maher, Tony Mak, Julie Maynard, Francesca Pigatto, Joan Shaw, Jeremy P Cheadle, None, Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH The Lancet. ,vol. 362, pp. 39- 41 ,(2003) , 10.1016/S0140-6736(03)13805-6
Christophe B�roud, Gwena�lle Collod-B�roud, Catherine Boileau, Thierry Soussi, Claudine Junien, UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Human Mutation. ,vol. 15, pp. 86- 94 ,(2000) , 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4
Joanna Groden, Andrew Thliveris, Wade Samowitz, Mary Carlson, Lawrence Gelbert, Hans Albertsen, Geoff Joslyn, Jeff Stevens, Lisa Spirio, Margaret Robertson, Leslie Sargeant, Karen Krapcho, Erika Wolff, Randall Burt, J.P. Hughes, Janet Warrington, John McPherson, John Wasmuth, Denis Le Paslier, Hadi Abderrahim, Daniel Cohen, Mark Leppert, Ray White, Identification and characterization of the familial adenomatous polyposis coli gene Cell. ,vol. 66, pp. 589- 600 ,(1991) , 10.1016/0092-8674(81)90021-0
Simona Pedemonte, Stefania Sciallero, Viviana Gismondi, Paola Stagnaro, Roberta Biticchi, Abdelhamid Haeouaine, Luigina Bonelli, Guido Nicolo˘, Joanna Groden, Paolo Bruzzi, Hugo Aste, Liliana Varesco, Novel germlineAPC variants in patients with multiple adenomas Genes, Chromosomes and Cancer. ,vol. 22, pp. 257- 267 ,(1998) , 10.1002/(SICI)1098-2264(199808)22:4<257::AID-GCC1>3.0.CO;2-U
V. Gismondi, L. Bonelli, S. Sciallero, P. Margiocco, A. Viel, P. Radice, P. Mondini, P. Sala, M.P. Montera, C. Mareni, M. Quaia, M. Fornasarig, M. Gentile, G. Pietro, P. Rossini, A. Arrigoni, G.M. Meucci, P. Bruzzi, L. Varesco, Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. Genetic Testing. ,vol. 6, pp. 313- 317 ,(2002) , 10.1089/10906570260471859
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
Juul Th. Wijnen, Heleen M. van der Klift, Rob J. Plug, Gerrit Griffioen, Riccardo Fodde, Rob. B. van der Luijt, P. Meera Khan, Hans F. A. Vasen, Carli M. J. Tops, Inge S. J. van Leeuwen-Cornelisse, Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. Human Mutation. ,vol. 9, pp. 7- 16 ,(1997) , 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8
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
Susa Enholm, Tuija Hienonen, Anu Suomalainen, Lara Lipton, Ian Tomlinson, Vesa Kärjä, Matti Eskelinen, Jukka-Pekka Mecklin, Auli Karhu, Heikki J. Järvinen, Lauri A. Aaltonen, Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. American Journal of Pathology. ,vol. 163, pp. 827- 832 ,(2003) , 10.1016/S0002-9440(10)63443-8
I. M. Frayling, N. E. Beck, M. Ilyas, I. Dove-Edwin, P. Goodman, K. Pack, J. A. Bell, C. B. Williams, S. V. Hodgson, H. J. W. Thomas, I. C. Talbot, W. F. Bodmer, I. P. M. Tomlinson, The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history Proceedings of the National Academy of Sciences of the United States of America. ,vol. 95, pp. 10722- 10727 ,(1998) , 10.1073/PNAS.95.18.10722