Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
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DOI：
10.1371/journal.pone.0064271
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Kim TY
中科院分区：
文献类型：
--
作者：
Han SW;Kim HP;Shin JY;Jeong EG;Lee WC;Lee KH;Won JK;Kim TY;Oh DY;Im SA;Bang YJ;Jeong SY;Park KJ;Park JG;Kang GH;Seo JS;Kim JI;Kim TY
测序技术的最新进展使得能够对癌症中的遗传改变进行全面分析。我们已经建立了一个使用下一代测序（NGS）技术用于临床的靶向测序平台，该平台可以提供突变和拷贝数变异数据。用富含183个肿瘤相关基因外显子的双端文库进行NGS。60例结直肠腺癌的正常和肿瘤组织对用于测试可行性。分析体细胞突变和拷贝数改变。在113个基因中发现了526个体细胞非同义序列变异。其中，278个单核苷酸变异是232个不同的体细胞点突变。216个SNV是dbSNP中已知的79个单核苷酸多态性。32个indel为28个不同的indel突变。每个肿瘤突变基因的中位数为4（范围0-23）。在40名患者的65个基因中发现拷贝数增加（>X2倍），而在39名患者的103个基因中发现拷贝数丢失（<X0.5倍）。最常改变的基因（突变和/或拷贝数改变）是35例患者（58%）的APC，34例患者（57%）的TP 53和24例患者（40%）的KRAS。改变基因列表显示ErbB信号通路是最常见的参与途径（25例，42%）。采用NGS技术的靶向测序平台可用于临床，并提供全面的遗传变异数据。
Recent advance in sequencing technology has enabled comprehensive profiling of genetic alterations in cancer. We have established a targeted sequencing platform using next-generation sequencing (NGS) technology for clinical use, which can provide mutation and copy number variation data. NGS was performed with paired-end library enriched with exons of 183 cancer-related genes. Normal and tumor tissue pairs of 60 colorectal adenocarcinomas were used to test feasibility. Somatic mutation and copy number alteration were analyzed. A total of 526 somatic non-synonymous sequence variations were found in 113 genes. Among these, 278 single nucleotide variations were 232 different somatic point mutations. 216 SNV were 79 known single nucleotide polymorphisms in the dbSNP. 32 indels were 28 different indel mutations. Median number of mutated gene per tumor was 4 (range 0–23). Copy number gain (>X2 fold) was found in 65 genes in 40 patients, whereas copy number loss (<X0.5 fold) was found in 103 genes in 39 patients. The most frequently altered genes (mutation and/or copy number alteration) were APC in 35 patients (58%), TP53 in 34 (57%), and KRAS in 24 (40%). Altered gene list revealed ErbB signaling pathway as the most commonly involved pathway (25 patients, 42%). Targeted sequencing platform using NGS technology is feasible for clinical use and provides comprehensive genetic alteration data.
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