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一项基于全基因组的综合分析确定了与 anoikis 相关的基因 ADH1A 在调节乳腺癌发病机制方面的抗癌作用。

A comprehensive genome-based analysis identifies the anti-cancerous role of the anoikis-related gene ADH1A in modulating the pathogenesis of breast cancer.

机构信息

The First Affiliated Hospital of Kunming Medical University, Xichang Road No. 295, Kunming, 650032, Yunnan, China.

出版信息

Mol Genet Genomics. 2024 Nov 12;299(1):108. doi: 10.1007/s00438-024-02200-y.

Abstract

Breast cancer (BC), a widespread and lethal neoplasm, is irrespective of the subtype of BC. Metastasis remains a crucial determinant for unfavorable outcome. The identification of novel diagnostic markers is instrumental in optimizing the treatment regime for BC. The direct correlation between anoikis and the progression/outcome of BC is well established. Nevertheless, the contribution of anoikis-related genes (ARGs) in BC remains obscure at present. We implemented the METABRIC dataset to scrutinize and assess differentially expressed ARGs in BC versus healthy breast tissues. An unsupervised consensus clustering approach for ARGs was employed to classify patients into diverse subtypes. ESTIMATE algorithms were utilized to assess immune infiltrative patterns. Prognostic gene expression patterns were derived from LASSO regression and univariate COX regression analysis. Subsequently, these signatures underwent examination via use of the Kaplan-Meier survival curve. 6 pairs of fresh tissue specimens (tumor and adjacent non-tumor) were employed to assess the expression of 7 ARGs genes via qPCR. Notably, DCN and FOS were not expressed in BC tissue, which had been excluded in our subsequent experiments. Also, among remaining 5 ARGs, solely the expression of ADH1A demonstrated a statistically remarkable disparity between freshly collected cancer tissues and the adjacent ones. ADH1A-overexpressed and ADH1A-sh vectors were transfected into MCF-7 and MCF-7-AR cell lines, respectively. The expression status of FABP4, CALML5, ADH1A, C1orf106, CIDEC, β-catenin, N-cadherin, and Vimentin in the clinical samples were scrutinized using RT-qPCR and western blotting techniques. Migration and invasion through transwell chambers were employed to assess the migratory and invasive potential of the cells. Detailed evaluation of cell proliferation was conducted utilizing a Cell Counting Kit-8 (CCK-8) assay. The apoptotic index of the cells was determined by flow cytometry analysis. An innovative anoikis-associated signature consisting of seven genes, namely ADH1A, DCN, CIEDC, FABP4, FOS, CALML5, and C1orf106, was devised to stratify BC patients into high- and low-risk cohorts. This unique risk assessment model, formulated via the distinctive signature approach, has been validated as an independent prognostic indicator. Additional analysis demonstrated that distinct risk subtypes manifested variances in the tumor microenvironment and drug sensitivities. Suppression of ADH1A enhanced the migratory and invasive capacities and reduced these tumorigenesis-related protein levels, underscoring the prognostic role of ADH1A in the progression of BC. Through our meticulous study, we have elucidated the possible molecular markers and clinical implications of ARGs in BC. Our model, which incorporate seven ARGs, has proven to accurately forecast the survival outcomes of BC patients. Moreover, the thorough molecular study of ADH1A has augmented our comprehension of ARGs in BC and opened a novel avenue for guiding personalized and precise therapeutic interventions for BC patients.

摘要

乳腺癌(BC)是一种广泛存在且致命的肿瘤,无论 BC 的亚型如何。转移仍然是不良预后的关键决定因素。鉴定新的诊断标志物对于优化 BC 的治疗方案至关重要。细胞凋亡与 BC 的进展/结果之间的直接相关性已得到充分证实。然而,目前尚不清楚与细胞凋亡相关的基因(ARGs)在 BC 中的作用。我们使用 METABRIC 数据集来研究和评估 BC 与健康乳腺组织中差异表达的 ARGs。我们采用无监督共识聚类方法对 ARGs 进行分类,以将患者分为不同的亚型。我们使用 ESTIMATE 算法来评估免疫浸润模式。通过 LASSO 回归和单变量 COX 回归分析得出预后基因表达模式。随后,我们使用 Kaplan-Meier 生存曲线对这些特征进行了检查。我们使用 6 对新鲜组织标本(肿瘤和相邻非肿瘤)通过 qPCR 评估 7 个 ARGs 基因的表达。值得注意的是,在 BC 组织中没有检测到 DCN 和 FOS 的表达,这在我们的后续实验中被排除在外。在其余的 5 个 ARGs 中,只有 ADH1A 的表达在新鲜收集的癌症组织和相邻组织之间存在统计学上的显著差异。ADH1A 过表达和 ADH1A-sh 载体分别转染 MCF-7 和 MCF-7-AR 细胞系。使用 RT-qPCR 和 Western blot 技术检测临床样本中 FABP4、CALML5、ADH1A、C1orf106、CIDEC、β-catenin、N-cadherin 和 Vimentin 的表达状态。通过 Transwell 室评估细胞的迁移和侵袭能力。使用 Cell Counting Kit-8(CCK-8)测定细胞的增殖情况。通过流式细胞术分析确定细胞的凋亡指数。我们设计了一个由七个基因组成的新型与细胞凋亡相关的特征,即 ADH1A、DCN、CIEDC、FABP4、FOS、CALML5 和 C1orf106,用于将 BC 患者分为高风险和低风险组。该独特的风险评估模型通过独特的特征方法构建,已被验证为独立的预后指标。进一步的分析表明,不同的风险亚型在肿瘤微环境和药物敏感性方面存在差异。ADH1A 的抑制增强了迁移和侵袭能力,并降低了这些肿瘤发生相关蛋白的水平,突出了 ADH1A 在 BC 进展中的预后作用。通过我们的细致研究,我们阐明了 ARGs 在 BC 中的可能分子标志物和临床意义。我们的模型包含七个 ARGs,已被证明可以准确预测 BC 患者的生存结果。此外,对 ADH1A 的深入分子研究增加了我们对 BC 中 ARGs 的理解,并为指导 BC 患者的个性化和精确治疗干预开辟了新途径。

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