关键词: FANCD2 Enrichment analysis Genetic alteration Immune infiltration Pan-cancer analysis Prognosis

Mesh : Humans Fanconi Anemia Prognosis Carcinogenesis / genetics Cell Transformation, Neoplastic Cognition Fanconi Anemia Complementation Group D2 Protein / genetics

来  源:   DOI:10.1186/s12920-024-01836-4   PDF(Pubmed)

Abstract:
Recent evidence has shed light on the significant role of FANCD2 in cancer initiation, development, and progression. However, a comprehensive pan-cancer analysis of FANCD2 has been lacking. In this study, we have conducted a thorough investigation into the expression profiles and prognostic significance of FANCD2, as well as its correlation with clinicopathological parameters and immune cell infiltration, using advanced bioinformatic techniques. The results demonstrate that FANCD2 is significantly upregulated in various common cancers and is associated with prognosis. Notably, higher expression levels of FANCD2 are linked to poor overall survival, as indicated by Cox regression and Kaplan-Meier analyses. Additionally, we have observed a decrease in the methylation of FANCD2 DNA in some cancers, and this decrease is inversely correlated with FANCD2 expression. Genetic alterations in FANCD2 predominantly manifest as mutations, which are associated with overall survival, disease-specific survival, disease-free survival, and progression-free survival in certain tumor types. Moreover, FANCD2 exhibits a strong correlation with infiltrating cell levels, immune checkpoint genes, tumor mutation burden (TMB), and microsatellite instability (MSI). Enrichment analysis further highlights the potential impact of FANCD2 on Fanconi anemia (FA) pathway and cell cycle regulation. Through this comprehensive pan-cancer analysis, we have gained a deeper understanding of the functions of FANCD2 in oncogenesis and metastasis across different types of cancer.
摘要:
最近的证据揭示了FANCD2在癌症发生中的重要作用,发展,和进步。然而,缺乏对FANCD2进行全面的泛癌症分析.在这项研究中,我们对FANCD2的表达谱和预后意义,以及它与临床病理参数和免疫细胞浸润的相关性进行了深入研究,使用先进的生物信息学技术。结果表明,FANCD2在各种常见癌症中显著上调,并与预后相关。值得注意的是,较高的FANCD2表达水平与较差的总体生存率有关,如Cox回归和Kaplan-Meier分析所示。此外,我们观察到一些癌症中FANCD2DNA甲基化的减少,这种降低与FANCD2表达呈负相关。FANCD2的遗传改变主要表现为突变,这与总体生存率有关,疾病特异性生存,无病生存,和某些肿瘤类型的无进展生存期。此外,FANCD2与浸润细胞水平有很强的相关性,免疫检查点基因,肿瘤突变负荷(TMB),和微卫星不稳定性(MSI)。富集分析进一步强调了FANCD2对范可尼贫血(FA)途径和细胞周期调控的潜在影响。通过这种全面的泛癌分析,我们对FANCD2在不同类型癌症的肿瘤发生和转移中的功能有了更深入的了解。
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