| 张 洁,胡伟国,宋启斌.单核苷酸多态性的遗传变异与结直肠癌相关性研究进展[J].肿瘤学杂志,2023,29(8):646-651. |
| 单核苷酸多态性的遗传变异与结直肠癌相关性研究进展 |
| Research Progress on the Relationship Between Single Nucleotide Polymorphisms and Colorectal Cancer |
| 投稿时间：2023-02-18 |
| DOI：10.11735/j.issn.1671-170X.2023.08.B003 |
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| 中文关键词: 结直肠癌 单核苷酸多态性 遗传变异 易感性 |
| 英文关键词:colorectal cancer single nucleotide polymorphism genetic variation susceptibility |
| 基金项目: |
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| 中文摘要: |
| 摘 要：第二代测序技术和人类基因组计划的完成有助于发现基因组单个核苷酸变异的多样化，大量碱基突变位点成为遗传性疾病、基因-环境相关性疾病的易感位点。结直肠癌作为常见的恶性肿瘤，其发病率在中青年人群中持续上升，因此有必要探索结直肠癌早期筛查和诊断的可靠方式。单核苷酸多态性在所有遗传变异中最为丰富，同时也影响结直肠癌发生及进展和临床诊疗效果。深入探究单核苷酸多态性与结直肠癌相关性有助于对结直肠癌预防、诊断、治疗等方向提供新的思路。 |
| 英文摘要: |
| Abstract： The development of the second generation sequencing technology and the Human Genome Project will help to discover the diversity of single nucleotide variations in the genome. A large number of base mutation sites have become susceptible sites for hereditary diseases and gene environment related diseases. The incidence of colorectal cancer is rising in young and middle-aged people， so it is necessary to explore a reliable way of screening and early diagnosis of colorectal cancer. Single nucleotide polymorphisms are the most abundant among all genetic variations， and also affect the occurrence， progression， and clinical diagnosis and treatment of colorectal cancer. To explore the correlation between single nucleotide polymorphisms and colorectal cancer may provide new insights into the prevention， diagnosis， and treatment of colorectal cancer. |
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