| Lynch综合征筛查及治疗研究进展 |
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| 引用本文： | 姜武,梅伟健,丁培荣.Lynch综合征筛查及治疗研究进展[J].中国肿瘤临床,2022,49(23):1196-1200. |
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| 作者姓名： | 姜武 梅伟健 丁培荣 |
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| 作者单位： | 中山大学肿瘤防治中心，华南肿瘤学国家重点实验室，肿瘤医学协同创新中心（广州市510060） |
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| 摘 要： | 家族遗传性结直肠癌是一类由于基因胚系变异导致的疾病，其中最常见的是Lynch综合征，也被称为遗传性非息肉病性结直肠癌（hereditary nonpolyposis colorectal cancer，HNPCC）。近年来随着对基因组认识的加深，研究显示Lynch综合征临床表型和治疗靶点均有别于散发型结直肠癌。本文将从Lynch综合征筛查策略、类Lynch综合征再定义，以及Lynch综合征免疫治疗和化学预防等方面综述其研究进展。
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| 关 键 词： | Lynch综合征 遗传性非息肉病性结直肠癌 类Lynch综合征 免疫治疗 |
| 收稿时间： | 2022-08-02 |
Recent advances in screening and treatment of Lynch syndrome |
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| Institution: | Department of Colorectal Surgery, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, China |
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| Abstract: | Hereditary colorectal cancer is a disease caused by pathogenic germline variants in susceptibility genes. Lynch syndrome, previously called hereditary nonpolyposis colorectal cancer (HNPCC), is the most common type of hereditary colorectal cancer. In recent years, genome analysis provided an insight into the genetic basis of the disease. Here, we review the most recent advances in diagnosis and treatment of Lynch syndrome, including screening strategies, redefinition of Lynch-like syndrome, immunotherapy, and chemical prevention of Lynch syndrome. |
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