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中华结直肠疾病电子杂志 ›› 2016, Vol. 05 ›› Issue (06) : 512 -517. doi: 10.3877/cma.j.issn.2095-3224.2016.06.012

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综述

林奇综合征诊疗进展
李小会1, 赵文婕1, 刘变英1,()   
  1. 1. 030006 太原,山西省煤炭中心医院消化内科
  • 收稿日期:2016-07-18 出版日期:2016-12-25
  • 通信作者: 刘变英
  • 基金资助:
    山西省科技计划社会发展资助项目(No.20120313019-11)

Advances in the diagnosis and treatment of Lynch syndrome

Xiaohui Li1, Wenjie Zhao1, bianying Liu1,()   

  1. 1. Department of Gastroenterology, Shanxi Coal Center Hospital, Taiyuan 030006, China
  • Received:2016-07-18 Published:2016-12-25
  • Corresponding author: bianying Liu
  • About author:
    Corresponding author: Liu bianying, Email:
引用本文:

李小会, 赵文婕, 刘变英. 林奇综合征诊疗进展[J/OL]. 中华结直肠疾病电子杂志, 2016, 05(06): 512-517.

Xiaohui Li, Wenjie Zhao, bianying Liu. Advances in the diagnosis and treatment of Lynch syndrome[J/OL]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2016, 05(06): 512-517.

林奇综合征是一种由错配修复基因突变造成的遗传性结直肠癌综合征,属常染色体显性遗传病,过去又称遗传性非息肉病性大肠癌,约占全部大肠癌的5%~15%,错配修复基因的种系突变和微卫星不稳定是其分子遗传学基础。近年来随着分子生物学的进展,林奇综合征的诊断及治疗越来越受到人们的关注,本文就林奇综合征的诊断与治疗进展做一综述。

Lynch syndrome is an autosomal-dominantly colorectal cancer syndromes that caused by germline mutations in mismatch repair (MMR) genes, also known as hereditary non-polyposis colorectal cancer, accounting for about 5%~15% of all colorectal cancer. It is the molecular genetic basis of germline mutations in mismatch repair and microsatellite instability (MSI). With the progress of molecular biology in recent years, people pay more attention to the diagnosis and treatment of Lynch syndrome. This review focuses on the advances in the diagnosis and treatment of Lynch syndrome.

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