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Gene expression analyses and their possible clinical benefit in head and neck cancer

机译:基因表达分析及其在头颈癌中的临床意义

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Systems biology approaches for mutational (exome analysis and targeted sequencing) and gene expression analysis (transcriptome-wide gene expression profiling) represent a new and growing scientific field in head and neck oncology. In addition to medical biological expertise, bioinformatic assistance is increasingly required. For squamous cell head and neck cancer (HNSCC), the recent molecular genetic single-gene and signal pathway observations represent basic research. Important aspects of this have now been significantly enhanced by systems biology approaches, which have grown into relevant areas of translational clinical research. It is now known that HPV16 is associated with genetic alterations at various locations, but also that it functionally affects genes not altered in their base sequence at the level of methylation. In transcriptome analyses, various consortia found matching clusters of gene expression and HPV16 association with the spectrum of somatic mutations. The differential methylation of gene promoters discovered in HPV16-driven HNSCC proved predictive for survival-even in HNSCC patients without HPV detection. The authors present an overview of some translationally relevant findings and venture an outlook on possible future clinical developments.
机译:用于突变(外显子组分析和靶向测序)和基因表达分析(转录组范围内的基因表达谱)的系统生物学方法代表了头颈肿瘤学领域一个新兴且不断发展的科学领域。除了医学生物学专业知识外,越来越需要生物信息学援助。对于鳞状细胞头颈癌(HNSCC),最近的分子遗传单基因和信号通路观察代表了基础研究。现在,系统生物学方法已大大增强了这一方面的重要方面,这些方法已发展成为转化临床研究的相关领域。现在已知HPV16与在各个位置的遗传改变有关,但是它在功能上影响在甲基化水平上其碱基序列没有改变的基因。在转录组分析中,各种财团发现了匹配的基因表达簇和HPV16与体细胞突变谱的关联。在HPV16驱动的HNSCC中发现的基因启动子的差异甲基化被证明可预测存活-即使在未检测到HPV的HNSCC患者中也是如此。作者概述了一些翻译相关的发现,并对未来可能的临床发展提出了展望。

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