| 林奇综合征发生发展的研究进展 |
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| 引用本文： | 谢天赐,徐向上.林奇综合征发生发展的研究进展[J].现代肿瘤医学,2022,0(6):1102-1108. |
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| 作者姓名： | 谢天赐 徐向上 |
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| 作者单位： | 1.华中科技大学同济医学院八年制博士研究生,湖北 武汉 430030；2.华中科技大学同济医学院附属同济医院胃肠外科，湖北 武汉 430030 |
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| 基金项目： | 湖北陈孝平科技发展基金会青年科学专项基金(编号:CXPJJH121003-2104);2021年华中科技大学同济医学院附属同济医院归国留学人员启动基金(编号:2021HGRY012)。 |
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| 摘 要： | 林奇综合征是最常见的遗传性结直肠癌综合征,其主要特征是对多系统癌症的易感性,主要表现为结直肠癌和子宫内膜癌的发生.林奇综合征的致癌倾向源于一组错配修复蛋白的基因结构的改变,失活的错配修复蛋白导致基因组中的微卫星高度不稳定性,随着时间的推移,微卫星以及基因组其他部位突变的积累可以影响细胞内重要功能蛋白的数量或活性,从而引...
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| 关 键 词： | 林奇综合征 结直肠癌 遗传性癌症综合征 错配修复基因 |
Research progress on the occurrence and development of Lynch syndrome |
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| XIE Tianci,XU Xiangshang.Research progress on the occurrence and development of Lynch syndrome[J].Journal of Modern Oncology,2022,0(6):1102-1108. |
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| Authors: | XIE Tianci XU Xiangshang |
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| Affiliation: | 1.Tongji Medical College of Huazhong University of Science and Technology,Hubei Wuhan 430030,China；2.Department of Gastrointestinal Surgery,Tongji Hospital of Tongji Medical College,Huazhong University of Science and Technology,Hubei Wuhan 430030，China. |
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| Abstract: | Lynch syndrome is currently recognized as the most common hereditary colorectal cancer syndrome,which is characterized by the predisposition to a series of cancers,mainly colorectal cancer and endometrial cancer.The carcinogenic tendency of Lynch syndrome stems from changes in the gene structure of a set of mismatch repair proteins.The inactivated mismatch repair protein causes high instability in the microsatellite region of the genome.Over time,the accumulation of mutations in microsatellites and other parts of the genome can affect the number or activity of proteins with important functions in cells,thereby stimulating tumorigenesis.In addition,compared with sporadic cancers,Lynch syndrome-associated cancers have different pathological and clinical characteristics,and the treatment and management of related cancers are also different from those of sporadic cancers.Therefore,the identification of Lynch syndrome diagnosis is very important.With the rapid development of molecular biology in recent years and people's exploration of Lynch syndrome for more than a century,Lynch syndrome has attracted more and more attention.In this review,we summarize the pathogenesis,clinical characteristics,diagnosis,prevention and treatment of Lynch syndrome. |
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| Keywords: | Lynch syndrome colorectal cancer hereditary cancer syndromes mismatch repair gene |
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