Abstract：
Cells experience increased genome instability through the course of disease development including cancer initiation and progression. Point mutations, insertion/deletions, translocations, and amplifications of both coding and noncoding regions all contribute to cancer phenotypes. Copy number variation (CNV), i.e., changes of the number of copies of nuclear DNA, occurs in the genome of even normal somatic cells. Studies to understand the effects of CNV on tumor development, especially aspects concerning tumor aggressiveness and the influence on outcomes of therapeutic modalities, have been reignited by the breakthrough technologies of the molecular genomics. This section discusses the significance of analyzing CNVs that cause simultaneous increase/decrease of clusters of genes, using the expression profile of XRCC1 with its neighbor genes LIG1, PNKP, and POLD1 as an example. Methods for CNV assay at the individual gene level on formalin-fixed, paraffin-embedded (FFPE) tissues using the NanoString nCounter technology will then be described.
摘要：
在包括癌症起始和进展的疾病发展过程中,细胞经历增加的基因组不稳定性。点突变,插入/删除，易位,编码区和非编码区的扩增都有助于癌症表型。拷贝数变异(CNV),即，核DNA拷贝数的变化，甚至发生在正常体细胞的基因组中。了解CNV对肿瘤发展影响的研究，特别是关于肿瘤侵袭性和对治疗方式结果的影响的方面，已经被分子基因组学的突破性技术重新点燃。本节讨论了分析导致基因簇同时增加/减少的CNV的意义，使用XRCC1及其邻近基因LIG1，PNKP的表达谱，以POLD1为例。在福尔马林固定的个体基因水平上检测CNV的方法，然后将描述使用NanoStringnCounter技术的石蜡包埋(FFPE)组织。
