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癌症的遗传图谱:机制、关键基因及治疗意义。

Genetic landscape of cancer: mechanisms, key genes, and therapeutic implications.

作者信息

Karnwal Arun, Dutta Joydeep, Al-Tawaha Abdel Rahman Mohammad Said, Nesterova Natalia

机构信息

Department of Microbiology, Graphic Era (Deemed to be University), Dehradun, Uttarakhand, 248002, India.

Department of Zoology, School of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Punjab, 144411, India.

出版信息

Clin Transl Oncol. 2025 Aug 17. doi: 10.1007/s12094-025-04019-4.

DOI:10.1007/s12094-025-04019-4
PMID:40820071
Abstract

Cancer is a complex and heterogeneous disease driven by a multitude of genetic alterations, including mutations, chromosomal rearrangements, and epigenetic modifications. Advances in genomic technologies have significantly enhanced our understanding of the genetic landscape of cancer, enabling the identification of key oncogenes, tumor suppressor genes, and DNA repair mechanisms that influence tumor progression. This review examines the molecular mechanisms underlying cancer development, focusing on the roles of mutations in genes such as TP53, KRAS, and EGFR. Furthermore, it explores the implications of genomic instability, tumor microenvironment interactions, and the emergence of precision medicine in oncology. The integration of next-generation sequencing and bioinformatics has facilitated the discovery of novel therapeutic targets, paving the way for personalized treatment strategies. Despite these advancements, challenges remain, including treatment resistance, tumor heterogeneity, and ethical considerations in genetic research. Addressing these complexities requires a multidisciplinary approach that combines molecular biology, bioinformatics, and clinical research. This review synthesizes current knowledge on cancer genetics, highlighting its importance in developing targeted therapies and enhancing patient outcomes.

摘要

癌症是一种复杂的异质性疾病,由多种基因改变驱动,包括突变、染色体重排和表观遗传修饰。基因组技术的进步显著增强了我们对癌症遗传图谱的理解,使我们能够识别影响肿瘤进展的关键癌基因、肿瘤抑制基因和DNA修复机制。本综述探讨了癌症发生的分子机制,重点关注TP53、KRAS和EGFR等基因中突变的作用。此外,还探讨了基因组不稳定、肿瘤微环境相互作用以及肿瘤学中精准医学出现的影响。下一代测序和生物信息学的整合促进了新型治疗靶点的发现,为个性化治疗策略铺平了道路。尽管取得了这些进展,但挑战依然存在,包括治疗耐药性、肿瘤异质性以及基因研究中的伦理考量。应对这些复杂性需要一种多学科方法,将分子生物学、生物信息学和临床研究结合起来。本综述综合了当前关于癌症遗传学的知识,强调了其在开发靶向治疗和改善患者预后方面的重要性。

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本文引用的文献

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Assessment of Contributing Risk Factors Leading to Heart Failure in Patients Who Are Methamphetamine Users.对甲基苯丙胺使用者中导致心力衰竭的相关风险因素的评估。
Cureus. 2024 Dec 27;16(12):e76479. doi: 10.7759/cureus.76479. eCollection 2024 Dec.
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Cancer statistics, 2025.2025年癌症统计数据。
CA Cancer J Clin. 2025 Jan-Feb;75(1):10-45. doi: 10.3322/caac.21871. Epub 2025 Jan 16.
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Transforming Clinical Research: The Power of High-Throughput Omics Integration.变革临床研究:高通量组学整合的力量
Proteomes. 2024 Sep 6;12(3):25. doi: 10.3390/proteomes12030025.
4
Ethical, legal, and social issues related to genetics and genomics in cancer: A scoping review and narrative synthesis.癌症中与遗传学和基因组学相关的伦理、法律及社会问题:一项范围综述与叙述性综合分析
Genet Med. 2024 Dec;26(12):101270. doi: 10.1016/j.gim.2024.101270. Epub 2024 Sep 13.
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MYC and KRAS cooperation: from historical challenges to therapeutic opportunities in cancer.MYC 和 KRAS 合作:癌症治疗机遇中的历史挑战。
Signal Transduct Target Ther. 2024 Aug 21;9(1):205. doi: 10.1038/s41392-024-01907-z.
6
Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models.默克尔细胞癌:肿瘤生物学的最新进展、新兴疗法及临床前模型
Front Oncol. 2024 Jul 29;14:1413793. doi: 10.3389/fonc.2024.1413793. eCollection 2024.
7
Deciphering the Epigenetic Symphony of Cancer: Insights and Epigenetic Therapies Implications.解析癌症的表观遗传交响乐:见解与表观遗传治疗启示。
Technol Cancer Res Treat. 2024 Jan-Dec;23:15330338241250317. doi: 10.1177/15330338241250317.
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Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.全基因组关联分析鉴定非洲裔女性乳腺癌的新易感位点并改善风险预测。
Nat Genet. 2024 May;56(5):819-826. doi: 10.1038/s41588-024-01736-4. Epub 2024 May 13.
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Unveiling Prognostic RNA Biomarkers through a Multi-Cohort Study in Colorectal Cancer.通过在结直肠癌多队列研究中揭示预后 RNA 生物标志物。
Int J Mol Sci. 2024 Mar 14;25(6):3317. doi: 10.3390/ijms25063317.
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Recent Advances towards the Understanding of Secondary Acute Myeloid Leukemia Progression.对继发性急性髓系白血病进展认识的最新进展
Life (Basel). 2024 Feb 27;14(3):309. doi: 10.3390/life14030309.