Whole-Exome Sequencing Identifies Two Discrete Druggable Signaling Pathways in Follicular Thyroid Cancer
Whole-Exome Sequencing Identifies Two Discrete Druggable Signaling Pathways in Follicular Thyroid Cancer
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DOI：
10.1016/j.jamcollsurg.2018.01.059
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发表时间：
2018-06-01
影响因子：
5.2
通讯作者：
Carling, Tobias
中科院分区：
文献类型：
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作者：
Erinjeri, Neeta J.;Nicolson, Norman G.;Carling, Tobias
背景：甲状腺癌是最常见的内分泌恶性肿瘤，发病率持续上升。滤泡性甲状腺癌(FTC)约占这些病例的10%至15%，并已知与几种基因突变有关。本研究的目的是利用全外显子组测序(WES)和生物信息学分析来确定FTC的新治疗靶点。研究设计：对6个已建立的FTC细胞系进行全外显子组测序。严格的防伪过滤和排除同义和已知的多态产生了新的错义、无义和剪接位点单核苷酸变体(SNV)。使用GO(基因本体学)、Pfam(蛋白质家族)和KEGG(京都基因和基因组百科全书)搜索，通过STRING(相互作用基因/蛋白质检索的搜索工具)和GRAILLA(基因本体学丰富分析和可视化工具)分析基因变体的结构、功能和进化特性。错误发现率为
BACKGROUND: Thyroid cancer is the most common endocrine malignancy, with continuously increasing incidence. Follicular thyroid cancer (FTC) accounts for approximately 10% to 15% of these cases and is known to be associated with several gene mutations. The purpose of this study was to identify novel therapeutic targets in FTC using whole-exome sequencing (WES) and bioinformatics analysis.STUDY DESIGN: Whole-exome sequencing was performed on 6 established FTC cell lines. Stringent false-proof filtering and exclusion of synonymous and known polymorphisms yielded novel missense, nonsense, and splice-site single nucleotide variants (SNV). Gene variants were analyzed for structural, functional, and evolutionary properties using GO (Gene Ontology), Pfam (Protein Families), and KEGG (Kyoto Encyclopedia of Genes and Genomes) searches by STRING (Search Tool for the Retrieval of Interacting Genes/Proteins) and GORILLA (Gene Ontology enRIchment anaLysis and visuaLizAtion tool) analyses. A false discovery rate of