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摘要: 林奇综合征(Lynch syndrome, LS)是错配修复基因缺陷引起的常染色体显性遗传病，多系统恶性肿瘤易感是其主要特征，LS相关子宫内膜癌(LS associated endometrial cancer，LS-EC)是LS最常见的肠外前哨癌。精准医学时代，LS-EC的早期筛查对于预防LS相关其他恶性肿瘤的发生具有重要意义。本文就LS-EC的筛查手段及预防研究进展进行综述，以期为LS相关肿瘤患者精准诊疗及预防提供参考。Abstract: Lynch syndrome (LS), an autosomal dominant genetic disorder caused by mismatch repair gene defects, is characterized by the susceptibility to multi-system malignancies. LS associated endometrial cancer (LS-EC) is the most common extraintestinal sentinel cancer of LS. In the era of precision medicine, early screening of LS-EC is of great significance to preventing the occurrence of other LS related malignant tumors. This paper reviews the research progress on screening methods and prevention of LS-EC, in order to provide reference for precise diagnosis and prevention of LS-related tumors.
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Key words:
- Lynch syndrome /
- endometrial cancer /
- sentinel cancer /
- mismatch repair gene /
- screening
作者贡献：刘晓负责检索文献、框架设计和论文初稿撰写；李玉兰负责修订论文初稿；马杏负责指导论文写作及终稿审核。利益冲突：所有作者均声明不存在利益冲突 -
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