Next-generation sequencing analysis of lung and colon carcinomas reveals a variety of genetic alterations.

作者: Sandy Chevrier , Laurent Arnould , François Ghiringhelli , Bruno Coudert , Pierre Fumoleau

DOI: 10.3892/IJO.2014.2528

关键词:

摘要: The development of targeted therapies in cancer has accelerated the molecular diagnosis. This new discipline is booming, with an increasing number gene alterations to analyze a growing patients. To deal this fast-developing activity, current analysis techniques (Sanger sequencing, allelic discrimination and high resolution melting) take more time. In recent years, next generation sequencing (NGS) technologies have appeared given perspectives oncology. study, we analyzed FFPE lung colon carcinomas using Truseq Cancer Panel, which analyzes mutation hotspots 48 genes. We also tested use whole-genome amplification before NGS analysis. results were compared data obtained from routine All routinely observed identified by NGS. Moreover, revealed mutations KRAS EGFR genes patients diagnosed as wild-type techniques. concomitant or BRAF mutations, 15-nt deletion exon 19 carcinomas. study other sequenced Panel 14 altered 27 different three SNP possible role susceptibility response treatment. conclusion, showed that could be used for gDNA extracted tissues. However, sensitivity technology, high-throughput clinical trials are needed confirm its reliability diagnosis cancer.

参考文章(34)
Jeffery P. Struewing, Genomic Approaches to Identifying Breast Cancer Susceptibility Factors Breast disease. ,vol. 19, pp. 3- 9 ,(2004) , 10.3233/BD-2004-19102
Maria Debiec-Rychter, Jan Cools, Herlinde Dumez, Raf Sciot, Michel Stul, Nicole Mentens, Hilde Vranckx, Bartosz Wasag, Hans Prenen, Johannes Roesel, Anne Hagemeijer, Allan Van Oosterom, Peter Marynen, Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants Gastroenterology. ,vol. 128, pp. 270- 279 ,(2005) , 10.1053/J.GASTRO.2004.11.020
Audrey Petitjean, Ewy Mathe, Shunsuke Kato, Chikashi Ishioka, Sean V. Tavtigian, Pierre Hainaut, Magali Olivier, Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Human Mutation. ,vol. 28, pp. 622- 629 ,(2007) , 10.1002/HUMU.20495
Linda G. Lee, Charles R. Connell, Will Bloch, Allelic discrimination by nick-translation PCR with fluorogenic probes. Nucleic Acids Research. ,vol. 21, pp. 3761- 3766 ,(1993) , 10.1093/NAR/21.16.3761
Frédérique Végran, Magali Rebucci, Sandy Chevrier, Muriel Cadouot, Romain Boidot, Sarab Lizard-Nacol, Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma PLoS ONE. ,vol. 8, pp. e55103- ,(2013) , 10.1371/JOURNAL.PONE.0055103
Michiko Miyaki, Takeru Iijima, Motoko Konishi, Kimiyo Sakai, Aki Ishii, Masamichi Yasuno, Tsunekazu Hishima, Morio Koike, Nobuyuki Shitara, Takeo Iwama, Joji Utsunomiya, Toshio Kuroki, Takeo Mori, Higher frequency of Smad4 gene mutation in human colorectal cancer with distant metastasis Oncogene. ,vol. 18, pp. 3098- 3103 ,(1999) , 10.1038/SJ.ONC.1202642
Oliver Klein, Arthur Clements, Alexander M. Menzies, Sandra O’Toole, Richard F. Kefford, Georgina V. Long, BRAF inhibitor activity in V600R metastatic melanoma European Journal of Cancer. ,vol. 49, pp. 1073- 1079 ,(2013) , 10.1016/J.EJCA.2012.11.004
Bijay S. Jaiswal, Vasantharajan Janakiraman, Noelyn M. Kljavin, Subhra Chaudhuri, Howard M. Stern, Weiru Wang, Zhengyan Kan, Hashem A. Dbouk, Brock A. Peters, Paul Waring, Trisha Dela Vega, Denise M. Kenski, Krista K. Bowman, Maria Lorenzo, Hong Li, Jiansheng Wu, Zora Modrusan, Jeremy Stinson, Michael Eby, Peng Yue, Josh S. Kaminker, Frederic J. de Sauvage, Jonathan M. Backer, Somasekar Seshagiri, Somatic Mutations in p85α Promote Tumorigenesis through Class IA PI3K Activation Cancer Cell. ,vol. 16, pp. 463- 474 ,(2009) , 10.1016/J.CCR.2009.10.016
Junko Tanizaki, Isamu Okamoto, Kunio Okamoto, Ken Takezawa, Kiyoko Kuwata, Haruka Yamaguchi, Kazuhiko Nakagawa, MET tyrosine kinase inhibitor crizotinib (PF-02341066) shows differential antitumor effects in non-small cell lung cancer according to MET alterations. Journal of Thoracic Oncology. ,vol. 6, pp. 1624- 1631 ,(2011) , 10.1097/JTO.0B013E31822591E9
P S Ward, J R Cross, C Lu, O Weigert, O Abel-Wahab, R L Levine, D M Weinstock, K A Sharp, C B Thompson, Identification of additional IDH mutations associated with oncometabolite R (−)-2-hydroxyglutarate production Oncogene. ,vol. 31, pp. 2491- 2498 ,(2012) , 10.1038/ONC.2011.416