Global perspective on the Genetic, Epigenetic, and Transcriptomic basis of Gallbladder Cancer.

Doutrina Das, Pooja Singh, Manjusha Pal, Manoj Pandey, Ruhi Dixit
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Abstract

Background: Gallbladder cancer (GBC) is a rare but aggressive malignancy with a poor prognosis. Its pathophysiology involves environmental, microbiological, and physiological factors. Emerging evidence highlights the role of genetic, epigenetic, and transcriptomic alterations in GBC onset. This article reviews these molecular changes in GBC patients.

Methods: A comprehensive search of PubMed, Scopus, EMBASE, and Google Scholar was conducted for articles published up to May 2025. A total of 248 relevant studies were included in this literature review.

Results: This review identified 24 genes associated with GBC, with mutations impacting apoptosis, cell cycle regulation, DNA repair, and cell adhesion. Transcriptomic studies revealed alterations in coding and non-coding RNAs, emphasizing RNA-based gene regulatory networks. Epigenetic changes, including DNA methylation of tumor suppressor genes, histone acetylation, and miRNA-mediated regulation, were found to influence DNA repair, cell growth, differentiation, and apoptosis. Specific alterations in mRNAs, lncRNAs, and miRNAs were also observed.

Conclusion: GBC is often diagnosed at an advanced stage due to the lack of specific early signs and symptoms, with benign conditions frequently mimicking GBC. Early detection relies on identifying reliable biomarkers, which remain elusive. Ongoing research aims to discover biomarkers for early diagnosis, paving the way for improved treatment outcomes.

胆囊癌的遗传学、表观遗传学和转录组学基础的全球视角。
背景:胆囊癌(GBC)是一种罕见但侵袭性的恶性肿瘤,预后差。其病理生理涉及环境、微生物和生理因素。新出现的证据强调了遗传、表观遗传和转录组学改变在GBC发病中的作用。本文就GBC患者的这些分子变化作一综述。方法:综合检索PubMed、Scopus、EMBASE和谷歌Scholar,检索截止到2025年5月发表的文章。本文献综述共纳入248项相关研究。结果:本综述鉴定了24个与GBC相关的基因,这些基因的突变影响细胞凋亡、细胞周期调节、DNA修复和细胞粘附。转录组学研究揭示了编码和非编码rna的变化,强调了基于rna的基因调控网络。表观遗传变化,包括肿瘤抑制基因的DNA甲基化、组蛋白乙酰化和mirna介导的调控,被发现影响DNA修复、细胞生长、分化和凋亡。还观察到了mrna、lncrna和mirna的特异性变化。结论:由于缺乏特定的早期体征和症状,GBC往往在晚期被诊断出来,良性状况经常与GBC相似。早期检测依赖于确定可靠的生物标志物,这些标志物仍然难以捉摸。正在进行的研究旨在发现早期诊断的生物标志物,为改善治疗结果铺平道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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