从 TCGA 癌症中评估肿瘤抑制因子和癌基因的特征。

IF 1.4 Q4 IMMUNOLOGY American journal of clinical and experimental immunology Pub Date : 2024-08-25 eCollection Date: 2024-01-01 DOI:10.62347/XMZW6604
Claire Shen, Richard Geng, Sissi Zhu, Michael Huang, Jeffrey Liang, Binze Li, Yongsheng Bai
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摘要

癌基因和抑癌基因的突变会在癌症发展过程中对细胞功能产生重大影响。对它们的突变模式和重要的基因本体术语进行全面分析,可以深入了解癌症的发生,并提出潜在的药物开发靶点。本研究通过关注重要的遗传和分子因素,对十二种癌症亚型进行了分析。与癌症相关的两种常见基因突变是单核苷酸变异(SNV)和拷贝数改变(CNA)。癌基因由突变的原癌基因衍生而来,会破坏细胞的正常功能并促进癌症的发生,而抑癌基因通常会因突变而失活,它们能调节细胞的增殖和DNA损伤反应等过程。这项研究分析了癌症基因组图谱(TCGA)的数据集,该图谱提供了各种癌症的大量基因组数据。根据我们的分析结果,在八种癌症(BRCA、BLCA、HNSC、KIRC、LUAD、KIRP、LUSC、STAD)中发现了许多基于 Kaplan Meier 基因表达数据的具有显著 p 值的基因。此外,STAD 是唯一一种同时报告了显著 p 值和功能项的癌症。有趣的是,我们发现 LIHC 是仅有一个 CNA 突变基因且其生存图谱 p 值显著的癌症。此外,KICH 没有报告任何有意义的基因。我们的研究提出了抑癌基因和致癌基因之间的关系,并揭示了基因突变导致的癌症肿瘤发生。
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Characterization of tumor suppressors and oncogenes evaluated from TCGA cancers.

Mutations in oncogenes and tumor suppressor genes can significantly impact cellular function during cancer development. A comprehensive analysis of their mutation patterns and significant gene ontology terms can provide insights into cancer emergence and suggest potential targets for drug development. This study analyzes twelve cancer subtypes by focusing on significant genetic and molecular factors. Two common genetic mutations associated with cancer are single nucleotide variants (SNVs) and copy number alterations (CNAs). Oncogenes, derived from mutated proto-oncogenes, disrupt normal cell functions and promote cancer, while tumor suppressor genes, often inactivated by mutations, regulate cell processes like proliferation and DNA damage response. This study analyzed datasets from The Cancer Genome Atlas (TCGA), which provides extensive genomic data across various cancers. In our analysis results, many genes with significant p-values based on Kaplan Meier gene expression data were identified in eight cancers (BRCA, BLCA, HNSC, KIRC, LUAD, KIRP, LUSC, STAD). Moreover, STAD is the only cancer for genes with both significant p-values and functional terms reported. Interestingly, we found that LIHC was the cancer reported with only one CNA mutated gene and its survival plot p-value being significant. Additionally, KICH has no reported significant genes at all. Our study proposed the relationship between tumor suppressor and oncogenes and shed light on cancer tumorigenesis due to genetic mutations.

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