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结直肠癌疾病负担沉重，严重威胁人类健康，人群中开展筛查可有效降低结直肠癌发病率和死亡率。近年来，结直肠癌相关的遗传学、表观遗传学和微生物组学研究成果层出不穷，随着基因测序和分子检测技术的发展，探索与癌症发生发展相关的生物标志物以应用于结直肠癌筛查和早期诊断已成为目前的研究热点。本文对现有结直肠癌筛查和早期诊断生物标志物进行综述，为进一步开发新型有效的结直肠癌非侵入性筛查和早期诊断技术提供依据。“,”Disease burden caused by colorectal cancer is growing, which has become a major concern in public health. Population-based screening has been proved effective in reducing the morbidity and mortality of colorectal cancer. To date, more evidences regarding the changes in genetics, epigenetics and microbiome of colorectal cancer have been recognized. Emerging technologies for gene sequencing and molecular detection shed lights on the development of informative colorectal cancer related biomarkers. In this article, we summarize the latest findings in research of biomarkers for colorectal cancer screening and early detection to provide references for the development of novel effective and non-invasive colorectal cancer screening tests in the future.