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• W2758551049 abstract "// Helei Hou 1 , Dong Liu 1 , Chuantao Zhang 1 , Yanxia Jiang 2 , Guifang Lu 3 , Na Zhou 1 , Xiaonan Yang 4 , Xiaoping Zhang 5 , Zhuokun Li 4 , Hongmei Zhu 6 , Zhaoyang Qian 6 and Xiaochun Zhang 1 1 Department of Medical Oncology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, 266005, China 2 Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, 266005, China 3 Department of Gastroenterology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China 4 BGI-Qingdao Institute, Qingdao SINO-GERMAN Ecopark, Qingdao, 266555, China 5 Department of Clinical Laboratory, BGI-Shenzhen, Shenzhen, 518083, China 6 Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin 300308, China Correspondence to: Xiaochun Zhang, email: zhangxiaochun9670@126.com Keywords: next generation sequencing, colorectal cancer, genetic alteration, targeted therapy, personalized therapy Received: May 13, 2017      Accepted: August 28, 2017      Published: September 27, 2017 ABSTRACT Objective: Colorectal cancer (CRC) patients with both RAS and BRAF wild-type tumors determined by non-next generation sequencing (NGS) testing may still not respond due to the presence of additional mutated genes such as PIK3CA or PTEN . In this study, a broad, hybrid capture-based NGS assay was used to identify RAS, BRAF and additional targetable genetic alterations from Chinese CRC tissues. Methods: Fifty-seven cases of CRC were enrolled, and all the patients signed the informed consent. In total, 7708 exons of 508 tumor-related genes and 78 introns of 19 frequently rearranged genes were assessed for base substitutions, INDELs, copy number alterations, and gene fusions. Results: The study found that 50.9% (29/57) of the tumors harbored KRAS mutations, 3.5% (2/57) harbored NRAS mutations and 3.5% (2/57) harbored BRAF mutations. More specifically, 89.7% (26/29) of RAS mutations were located in codon 12. Except for RAS and RAF , anti-EGFR therapy response genetic mutations in PTEN (n=2) and PIK3CA (n=1) were found in 4.7% (3/64) of the samples. Actionable alterations were found in HER2 (n = 7), CCND2 (n = 2), NF1 (n = 1), and BRCA1 (n = 1). Conclusions: Our results illustrated that 82.5% (47/57) of the samples harbored at least one actionable genetic alteration identified by NGS. HER2 amplifications or mutations, which were identified in 12.3% of the tissues, defined a unique molecular subtype of CRC. The study suggests that high-throughput NGS testing in CRC tissues is a comprehensive and efficient genomic profiling assay to guide personalized therapy." @default.
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• W2758551049 date "2017-09-27" @default.
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• W2758551049 title "Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine" @default.
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• W2758551049 doi "https://doi.org/10.18632/oncotarget.21349" @default.
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