| 中文关键词: Lynch综合征 遗传性非息肉病性结直肠癌 错配修复基因 |
| 英文关键词:Lynch syndrome hereditary nonpolyposis colorectal cancer mismatch repair genes |
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| 中文摘要: |
| 摘 要：Lynch综合征（Lynch syndrome，LS）又称遗传性非息肉病性结直肠癌，是最常见的一种遗传性结直肠癌综合征，占结直肠癌的２％～５％。指的是那些具有错配修复（MMR）基因突变导致易患结直肠癌和其他恶性肿瘤的个体。文章就国内外近10年关于MMR基因突变的特点和对LS的诊断和筛选及其应用的进展作一综述。 |
| 英文摘要: |
| Abstract：Lynch syndrome(LS)，also called hereditary nonpolyposis colorectal cancer(HNPCC)，is one of the most common hereditary colorectal cancer syndromes，accounted for 2%~5% of colorectal cancer. It refers to people who have mismatch repair(MMR) gene mutations which lead to susceptibility to colorectal cancer and other malignant tumors. In this paper，the characteristics of MMR gene mutation and the progress in diagnosis and screening of LS and their application both at home and abroad in recent 10 years are reviewed. |
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