在埃尔比勒市通过新一代测序从分子水平分析结直肠癌

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-03-04 DOI:10.14500/aro.11495

Vyan A. Qadir, Kamaran K. Abdoulrahman

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引用次数: 0

摘要

结直肠癌（CRC）是全球癌症相关死亡的第三大原因。结直肠癌是一种基因组疾病，其特点是基因组异常多样，包括点突变、基因组重排、基因融合和染色体拷贝数改变。这项研究旨在通过采用新一代测序技术，找出以前未公开的与 CRC 风险增加有关的基因变异。研究人员从五名 CRC 患者的血液样本中提取了基因组 DNA。样本的测序数据用于变异识别。此外，Integrative Genomic Viewer（IGV）软件还用于将识别出的变异可视化。此外，还使用了包括 Mutation Taster 和 Align GVGD 在内的各种硅学工具来预测变异对结构特征和蛋白质功能的潜在影响。根据这项研究的结果，在 CRC 患者中发现了 12 种不同的基因变异。遗传变异位于以下基因中：MSH6、MSH2、PTPRJ、PMS2、TP53、BRAF、APC 和 PIK3CA。

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Analyzing Colorectal Cancer at the Molecular Level through Next-generation Sequencing in Erbil City

Colorectal cancer (CRC) ranks as the third leading cause of cancer-related deaths globally. It is characterized as a genomic disorder marked by diverse genomic anomalies, including point mutations, genomic rearrangements, gene fusions, and alterations in chromosomal copy numbers. This research aims to identify previously undisclosed genetic variants associated with an increased risk of CRC by employing next-generation sequencing technology. Genomic DNA was extracted from blood specimens of five CRC patients. The sequencing data of the samples are utilized for variant identification. In addition, the Integrative Genomic Viewer software (IGV) is used to visualize the identified variants. Furthermore, various in silico tools, including Mutation Taster and Align GVGD, are used to predict the potential impact of mutations on structural features and protein function. Based on the findings of this research, 12 different genetic variations are detected among individuals with CRC. Inherited variations are located within the following genes: MSH6, MSH2, PTPRJ, PMS2, TP53, BRAF, APC, and PIK3CA.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.