结肠癌的遗传和表观遗传变化、发病机制、风险因素、治疗:文献综述

Gabrielė Ūbaitė, Aurelija Remeikaitė, Justas Žilinskas
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引用次数: 0

摘要

背景。结肠直肠癌(CRC)在全球癌症相关死亡率中排名第三。近年来,大肠癌的发病率有所上升。主要原因是人口老龄化、加工食品消费增加、肥胖和遗传倾向。目的回顾有关结肠癌流行病学、病因学和发病机制的最新科学进展和新因素,重点关注遗传学和表观遗传学的影响、风险因素以及预防和治疗方法的进展。材料和方法。研究方法为文献综述。使用以下英文关键词及其组合在 PubMed 数据库中检索文献:结肠癌、结肠直肠癌、管理、患病率、原因、风险因素、遗传和表观遗传学变化。出版物的选择标准:与研究主题相关的英文科学文章,且90%的文章发表于过去10年(2014-2024年)。结果。通过理论分析方法,共筛选出 72 篇符合纳入标准的出版物。我们的研究结果强调了基因突变(尤其是 APC、TP53、KRAS 和 MMR)和表观遗传学改变(如 DNA 甲基化和组蛋白修饰)在结直肠癌发病机制中的核心作用。这些遗传和表观遗传因素推动着良性息肉向恶性癌的发展,环境、生活方式和慢性疾病因素也发挥着至关重要的作用。其中,饮食、缺乏运动、吸烟和酗酒会大大增加患癌风险,尤其是男性和 50 岁以上人群。CRISPR/Cas9等创新技术为靶向治疗提供了新途径,而疫苗和液体活检技术的进步正在改善免疫反应激活和疾病监测。此外,富含纤维、抗氧化剂和健康脂肪的饮食,以及益生菌和非甾体抗炎药的使用,都是通过抗炎作用和促进肠道健康来降低癌症风险的关键。结论。本综述强调了遗传和表观遗传因素对结直肠癌(CRC)发展的重大影响,以及生活方式和环境暴露的作用。它强调了 CRISPR/Cas9、免疫疗法和液体活检在开创个性化 CRC 治疗和早期检测方面的潜力。预防和技术的进步有望开创个性化、有效的 CRC 管理策略的新时代。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Colon Cancer Genetic and Epigenetic Changes, Etiopathogenesis, Risk Factors, Treatment: Literature Review
Background. Colorectal cancer (CRC) ranks as the third leading cause of cancerrelated mortality worldwide. Recent years have witnessed an increase in the incidence of CRC. The main reasons are ageing population, increased consumption of processed food, obesity, genetic predispositions. Aim. To review the latest scientific developments and novel factors on the epidemiology, etiology, pathoge­nesis of colon cancer, focusing on the influence of genetics and epigenetics, risk factors, and the advancement of prevention and treatment methods. Material and methods. The research method is a literature review. Publications were searched in the PubMed database using the following keywords and their combinations in English: colon cancer, colorectal cancer, management, prevalence, causes, risk factors, genetic and epigenetic changes. Selection criteria for publications: scientific articles in English relevant to the research topic and 90% of articles published in the last 10 years (2014–2024). Results. Using theoretical analysis methods, 72 publications were selected that met the inclusion criteria. Our findings emphasize the central role of genetic mutations (particularly in APC, TP53, KRAS and MMR) and epigenetic alterations, such as DNA methylation and histone modification, in the pathogenesis of colorectal cancer. These genetic and epigenetic factors drive the progression from benign polyps to malignant carcinomas, with environmental, lifestyle, and chronic disease factors also playing a critical role. In particular, diet, physical inactivity, smoking and alcohol significantly increase risk, especially in men and those over 50. Innovations such as CRISPR/Cas9 offer new avenues for targeted treatments, while advances in vaccines and liquid biopsy techniques are improving immune response activation and disease monitoring. In addition, diets rich in fiber, antioxidants and healthy fats, as well as the use of probiotics and NSAIDs, are key to reducing cancer risk through their anti-inflammatory effects and promoting gut health. Conclussions. This review highlights the significant impact of genetic and epigenetic factors on colorectal cancer (CRC) development, in addition to the role of lifestyle and environmental exposures. It highlights the potential of CRISPR/Cas9, immunotherapies, and liquid biopsies in pioneering personalized CRC treatments and early detection. Advances in prevention and technology promise a new era of personalized, effective CRC management strategies.
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