《生命科学》 2026, 38(3): 482-492
结直肠癌发病的表观遗传及遗传学机制
摘 要：
结直肠癌（colorectal cancer，CRC）是全球癌症死亡的主要原因之一，由于早期症状不明显，多发现于晚期，因此针对该病的早期诊断和治疗方法都存在局限性。越来越多的证据表明，肠上皮细胞中各种表观遗传和遗传突变的积累，是CRC癌前病变发生发展的关键途径。表观遗传是影响基因表达但不改变DNA序列的分子修饰过程，在基因的激活或抑制中起重要作用，其中包括DNA甲基化、组蛋白修饰、非编码RNA和染色质重塑，且表观遗传可作为癌症诊断和治疗发展的有效生物标志物。基于表观遗传独有生物特征，本文将以CRC基因突变为切入点，阐述表观遗传机制在CRC发展中的作用，并探讨其在临床应用中的进展，为下一步结直肠癌的早期筛查及治疗提供临床思路。
通讯作者：李彦龙 , Email:308923963@163.com
Abstract:
Colorectal cancer (CRC) is one of the leading causes of cancer-related mortality worldwide. Owing to the lack of obvious early symptoms, CRC is often diagnosed at an advanced stage, highlighting the limitations of current early diagnostic and therapeutic approaches. Accumulating evidence suggests that the accumulation of various epigenetic and genetic mutations in intestinal epithelial cells is a key driver of the occurrence and progression of precancerous lesions in CRC. Epigenetics refers to molecular modifications that influence gene expression without altering the DNA sequence and plays a crucial role in gene activation or repression. Epigenetic mechanisms include DNA methylation, histone modification, noncoding RNAs, and chromatin remodeling. Furthermore, epigenetic alterations can serve as effective biomarkers for the development of diagnostic and therapeutic strategies in cancer. Based on the unique biological characteristics of epigenetics, this review takes CRC-associated genetic mutations as a starting point to elucidate the role of epigenetic mechanisms in CRC progression and to explore their potential in clinical applications, with the aim of providing new insights for the early screening and treatment of colorectal cancer.
Communication Author：LI Yan-Long , Email:308923963@163.com
SciCloud投稿系统