外周血检测非小细胞肺癌EGFR基因突变

表皮生长因子受体（epidermal growth factor receptor，EGFR）是一种上皮来源的在多种肿瘤内普遍表达的跨膜蛋白。近年来针对该受体研发的表皮生长因子受体酪氨酸激酶抑制剂（EGFR—TKI），如吉非替尼和厄洛替尼已经在部分非小细胞肺癌（non—small cell carcinoma，NSCLC）患者中显示出明显的疗效。许多回顾性研究已经证实EGFRTKI疗效与EGFR突变之间存在关联，存在敏感突变的患者经TKI治疗的客观缓解率（RR）在30％以上，而无突变者仅为10％。其中19外显子的缺失突变和21外显子L858R突变为主要的敏感突变，T790M为部分对TKI敏感的患者中常见的继发耐药突变。因此治疗前应进行EGFR突变（mEGFR）的检查，在治疗中仍应持续监测突变的发生，这对于靶向治疗的个体化及社会医疗成本的节约都有着重要的意义。

High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer

Here we present an adaptation of NimbleGen 2.1M-probe array sequence capture for whole exome sequencing using the Illumina Genome Analyzer (GA) platform.The protocol involves two-stage library construction.The specificity of exome enrichment was approximately 80% with 95.6% even coverage of the 34 Mb target region at an average sequencing depth of 33-fold.Comparison of our results with whole genome shot-gun resequencing results showed that the exome SNP calls gave only 0.97% false positive and 6.27% false negative variants.Our protocol is also well suited for use with whole genome amplified DNA.The results presented here indicate that there is a promising future for large-scale population genomics and medical studies using a whole exome sequencing approach.