TOX3 Mutations in Breast Cancer

作者: James Owain Jones , Suet-Feung Chin , Li-An Wong-Taylor , Donna Leaford , Bruce AJ Ponder

DOI: 10.1371/JOURNAL.PONE.0074102

关键词:

摘要: TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated the risk of developing cancer. However, not much is known role itself cancer biology. This first study determine importance mutations cancers. We screened for 133 tumours identified four (three missense, one in-frame deletion 30 base pairs) six primary tumours, corresponding an overall mutation frequency 4.5%. One potentially deleterious missense exon 3 (Leu129Phe) was tumour (genomic DNA cDNA). Whilst copy number changes 16q12 are common cancer, our data show that present at low tumours. Our results support should be further investigated elucidate its

参考文章(20)
Emmett O'Flaherty, Jonathan Kaye, TOX defines a conserved subfamily of HMG-box proteins BMC Genomics. ,vol. 4, pp. 13- 13 ,(2003) , 10.1186/1471-2164-4-13
S. A. Forbes, N. Bindal, S. Bamford, C. Cole, C. Y. Kok, D. Beare, M. Jia, R. Shepherd, K. Leung, A. Menzies, J. W. Teague, P. J. Campbell, M. R. Stratton, P. A. Futreal, COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Research. ,vol. 39, pp. 945- 950 ,(2011) , 10.1093/NAR/GKQ929
Douglas F Easton, Karen A Pooley, Alison M Dunning, Paul DP Pharoah, Deborah Thompson, Dennis G Ballinger, Jeffery P Struewing, Jonathan Morrison, Helen Field, Robert Luben, Nicholas Wareham, Shahana Ahmed, Catherine S Healey, Richard Bowman, SEARCH collaborators Luccarini Craig 61 Conroy Don 61 Shah Mitul 61 Munday Hannah 61 Jordan Clare 61 Perkins Barbara 61 West Judy 61 Redman Karen 61 Driver Kristy 61, Kerstin B Meyer, Christopher A Haiman, Laurence K Kolonel, Brian E Henderson, Loic Le Marchand, Paul Brennan, Suleeporn Sangrajrang, Valerie Gaborieau, Fabrice Odefrey, Chen-Yang Shen, Pei-Ei Wu, Hui-Chun Wang, Diana Eccles, D Gareth Evans, Julian Peto, Olivia Fletcher, Nichola Johnson, Sheila Seal, Michael R Stratton, Nazneen Rahman, Georgia Chenevix-Trench, Stig E Bojesen, Børge G Nordestgaard, Christen K Axelsson, Montserrat Garcia-Closas, Louise Brinton, Stephen Chanock, Jolanta Lissowska, Beata Peplonska, Heli Nevanlinna, Rainer Fagerholm, Hannaleena Eerola, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, David J Hunter, Susan E Hankinson, David G Cox, Per Hall, Sara Wedren, Jianjun Liu, Yen-Ling Low, Natalia Bogdanova, Peter Schürmann, Thilo Dörk, Rob AEM Tollenaar, Catharina E Jacobi, Peter Devilee, Jan GM Klijn, Alice J Sigurdson, Michele M Doody, Bruce H Alexander, Jinghui Zhang, Angela Cox, Ian W Brock, Gordon MacPherson, Malcolm WR Reed, Fergus J Couch, Ellen L Goode, Janet E Olson, Hanne Meijers-Heijboer, Ans van den Ouweland, André Uitterlinden, Fernando Rivadeneira, Roger L Milne, Gloria Ribas, Anna Gonzalez-Neira, Javier Benitez, John L Hopper, Margaret McCredie, Melissa Southey, Graham G Giles, Chris Schroen, Christina Justenhoven, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, AOCS Management Group Bowtell David 146 Green Adele 82 deFazio Anna 147 Chenevix-Trench Georgia 82 Gertig Dorota 111 Webb Penny 82, Arto Mannermaa, Veli-Matti Kosma, Vesa Kataja, Jaana Hartikainen, Nicholas E Day, David R Cox, Bruce AJ Ponder, None, Genome-wide association study identifies novel breast cancer susceptibility loci Nature. ,vol. 447, pp. 1087- 1093 ,(2007) , 10.1038/NATURE05887
K. Bryson, L. J. McGuffin, R. L. Marsden, J. J. Ward, J. S. Sodhi, D. T. Jones, Protein structure prediction servers at University College London Nucleic Acids Research. ,vol. 33, pp. 36- 38 ,(2005) , 10.1093/NAR/GKI410
Simon N Stacey, Andrei Manolescu, Patrick Sulem, Thorunn Rafnar, Julius Gudmundsson, Sigurjon A Gudjonsson, Gisli Masson, Margret Jakobsdottir, Steinunn Thorlacius, Agnar Helgason, Katja K Aben, Luc J Strobbe, Marjo T Albers-Akkers, Dorine W Swinkels, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Javier Godino, Maria Dolores Garcia-Prats, Eduardo Polo, Alejandro Tres, Magali Mouy, Jona Saemundsdottir, Valgerdur M Backman, Larus Gudmundsson, Kristleifur Kristjansson, Jon T Bergthorsson, Jelena Kostic, Michael L Frigge, Frank Geller, Daniel Gudbjartsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Thorvaldur Jonsson, Susanna von Holst, Barbro Werelius, Sara Margolin, Annika Lindblom, Jose I Mayordomo, Christopher A Haiman, Lambertus A Kiemeney, Oskar Th Johannsson, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson, None, Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nature Genetics. ,vol. 39, pp. 865- 869 ,(2007) , 10.1038/NG2064
A Naderi, A E Teschendorff, N L Barbosa-Morais, S E Pinder, A R Green, D G Powe, J F R Robertson, S Aparicio, I O Ellis, J D Brenton, C Caldas, A gene-expression signature to predict survival in breast cancer across independent data sets Oncogene. ,vol. 26, pp. 1507- 1516 ,(2007) , 10.1038/SJ.ONC.1209920
Sandrine Boyault, Youenn Drouet, Claudine Navarro, Thomas Bachelot, Christine Lasset, Isabelle Treilleux, Eric Tabone, Alain Puisieux, Qing Wang, Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes Breast Cancer Research and Treatment. ,vol. 132, pp. 29- 39 ,(2012) , 10.1007/S10549-011-1518-Y
Charles M. Perou, Therese Sørlie, Michael B. Eisen, Matt van de Rijn, Stefanie S. Jeffrey, Christian A. Rees, Jonathan R. Pollack, Douglas T. Ross, Hilde Johnsen, Lars A. Akslen, Øystein Fluge, Alexander Pergamenschikov, Cheryl Williams, Shirley X. Zhu, Per E. Lønning, Anne-Lise Børresen-Dale, Patrick O. Brown, David Botstein, Molecular portraits of human breast tumours Nature. ,vol. 406, pp. 747- 752 ,(2000) , 10.1038/35021093
Suet F Chin, Andrew E Teschendorff, John C Marioni, Yanzhong Wang, Nuno L Barbosa-Morais, Natalie P Thorne, Jose L Costa, Sarah E Pinder, Mark A Van de Wiel, Andrew R Green, Ian O Ellis, Peggy L Porter, Simon Tavare, James D Brenton, Bauke Ylstra, Carlos Caldas, None, High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer. Genome Biology. ,vol. 8, pp. 1- 17 ,(2007) , 10.1186/GB-2007-8-10-R215
Ana-Teresa Maia, Inmaculada Spiteri, Alvin JX Lee, Martin O'Reilly, Linda Jones, Carlos Caldas, Bruce AJ Ponder, None, Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast Breast Cancer Research. ,vol. 11, pp. 1- 10 ,(2009) , 10.1186/BCR2458