EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations : one-third of doublets occur at five pairs of amino acids
作者： Z Chen , J Feng , J-S Saldivar , D Gu , A Bockholt
DOI: 10.1038/ONC.2008.71
关键词:
摘要: Doublet mutations in cancer are not well studied. We find that allelic somatic doublet present at high frequency the epidermal growth factor receptor (EGFR) tyrosine kinase (TK) domain lung cancers. When doublets from literature added, a total of 96 available for analysis. The overall is 6%, which sevenfold greater than observed normal tissue mouse. All characterized allelic, and silent occur rarely. About half all contain one or two 12 distinct missense five amino acids: E709, G719, S768, T790 L861. these acids seldom reported as singlets. Moreover, when common L858 target included, more one-third EGFR specific pairs: G719/E709, G719/S768, G719/L861, L858/E709 L858/T790. Structure suggests function: data imply most NOT consistent with 'driver passenger' mutation mechanism. highly skewed relative to singlets, functional selection individually suboptimal that, combination, have enhanced oncogenic potential.
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sci-hub.se 参考文章(31)
C. D. K. Bottema, S. S. Sommer, A. R. Groszbach, PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes. BioTechniques. ,vol. 12, pp. 82- 87 ,(1992)
Nicholas C Dracopoli, Jonathan L Haines, Bruce R Korf, Current protocols in human genetics Wiley. ,(1994)
Helen Davies, Chris Hunter, Raffaella Smith, Philip Stephens, Chris Greenman, Graham Bignell, Jon Teague, Adam Butler, Sarah Edkins, Claire Stevens, Adrian Parker, Sarah O'Meara, Tim Avis, Syd Barthorpe, Lisa Brackenbury, Gemma Buck, Jody Clements, Jennifer Cole, Ed Dicks, Ken Edwards, Simon Forbes, Matthew Gorton, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathon Hinton, David Jones, Vivienne Kosmidou, Ross Laman, Richard Lugg, Andrew Menzies, Janet Perry, Robert Petty, Keiran Raine, Rebecca Shepherd, Alexandra Small, Helen Solomon, Yvonne Stephens, Calli Tofts, Jennifer Varian, Anthony Webb, Sofie West, Sara Widaa, Andrew Yates, Francis Brasseur, Colin S Cooper, Adrienne M Flanagan, Anthony Green, Maggie Knowles, Suet Y Leung, Leendert HJ Looijenga, Bruce Malkowicz, Marco A Pierotti, Bin T Teh, Siu T Yuen, Sunil R Lakhani, Douglas F Easton, Barbara L Weber, Peter Goldstraw, Andrew G Nicholson, Richard Wooster, Michael R Stratton, P Andrew Futreal, None, Somatic Mutations of the Protein Kinase Gene Family in Human Lung Cancer Cancer Research. ,vol. 65, pp. 7591- 7595 ,(2005) , 10.1158/0008-5472.CAN-05-1855
Hisayuki Shigematsu, Adi F. Gazdar, Somatic mutations of epidermal growth factor receptor signaling pathway in lung cancers International Journal of Cancer. ,vol. 118, pp. 257- 262 ,(2006) , 10.1002/IJC.21496
Satoru Shintani, Akihisa Kiyota, Mariko Mihara, Tomoki Sumida, Hiroaki Kayahara, Koh-ichi Nakashiro, Hiroyuki Hamakawa, Enhancement of radiosensitivity in head and neck cancer cells by ZD1839 ('IRESSA'), a selective epidermal growth factor receptor tyrosine kinase inhibitor. American Journal of Clinical Oncology. ,vol. 26, ,(2003) , 10.1097/01.COC.0000091356.25759.69
Lucia Regales, Marissa N. Balak, Yixuan Gong, Katerina Politi, Ayana Sawai, Carl Le, Jason A. Koutcher, David B. Solit, Neal Rosen, Maureen F. Zakowski, William Pao, Development of new mouse lung tumor models expressing EGFR T790M mutants associated with clinical resistance to kinase inhibitors. PLOS ONE. ,vol. 2, ,(2007) , 10.1371/JOURNAL.PONE.0000810
Bernard S Strauss, Role in tumorigenesis of silent mutations in the TP53 gene. Mutation Research. ,vol. 457, pp. 93- 104 ,(2000) , 10.1016/S0027-5107(00)00135-4
YR Chen, YN Fu, CH Lin, ST Yang, SF Hu, YT Chen, SF Tsai, SF Huang, None, Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants Oncogene. ,vol. 25, pp. 1205- 1215 ,(2006) , 10.1038/SJ.ONC.1209159
Kathleen A. Hill, Jicheng Wang, Kelly D. Farwell, William A. Scaringe, Steve S. Sommer, Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency. Mutation Research. ,vol. 554, pp. 223- 240 ,(2004) , 10.1016/J.MRFMMM.2004.05.005
Kathleen A Hill, Jicheng Wang, Kelly D Farwell, Steve S Sommer, Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity. Mutation Research-genetic Toxicology and Environmental Mutagenesis. ,vol. 534, pp. 173- 186 ,(2003) , 10.1016/S1383-5718(02)00277-2