Cancer is driven by both germline and somatic genetic changes. Efforts have been devoted to characterizing essential genetic variations in cancer initiation and development. Most attention has been given to mutations in protein-coding genes and associated regulatory elements such as promoters and enhancers. The development of sequencing technologies and in silico and experimental methods has allowed further exploration of cancer predisposition variants and important somatic mutations in noncoding RNAs, mainly for long noncoding RNAs and microRNAs. Association studies including GWAS have revealed hereditary variations including SNPs and indels in lncRNA or miRNA genes and regulatory regions. These mutations altered RNA secondary structures, expression levels, and target recognition and then conferred cancer predisposition to carriers. Whole-exome/genome sequencing comparing cancer and normal tissues has revealed important somatic mutations in noncoding RNA genes. Mutation hotspots and somatic copy number alterations have been identified in various tumor-associated noncoding RNAs. Increasing focus and effort have been devoted to studying the noncoding region of the genome. The complex genetic network of cancer initiation is being unveiled.

中文翻译：

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癌症中的非编码RNA突变

癌症是由种系和体细胞遗传变化驱动的。人们一直致力于表征癌症发生和发展中的重要遗传变异。大多数注意力都集中在蛋白质编码基因和相关调控元件（例如启动子和增强子）的突变上。测序技术以及计算机和实验方法的发展使得人们能够进一步探索非编码RNA（主要是长非编码RNA和microRNA）中的癌症易感性变异和重要体细胞突变。包括 GWAS 在内的关联研究揭示了 lncRNA 或 miRNA 基因和调控区域中的遗传变异，包括 SNP 和插入缺失。这些突变改变了RNA二级结构、表达水平和靶标识别，然后赋予携带者癌症易感性。比较癌症和正常组织的全外显子组/基因组测序揭示了非编码 RNA 基因的重要体细胞突变。突变热点和体细胞拷贝数改变已在多种肿瘤相关非编码 RNA 中被发现。人们越来越关注和努力研究基因组的非编码区域。癌症发生的复杂遗传网络正在被揭示。