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中华结直肠疾病电子杂志 ›› 2017, Vol. 06 ›› Issue (04) : 320 -323. doi: 10.3877/cma.j.issn.2095-3224.2017.04.011

所属专题: 文献

综述

家族性结直肠癌X型研究进展
季午阳1, 吴斌1,()   
  1. 1. 100730 中国医学科学院 北京协和医院基本外科
  • 收稿日期:2017-02-21 出版日期:2017-08-25
  • 通信作者: 吴斌
  • 基金资助:
    协和青年基金--中央高校基本科研业务费专项资金资助项目(No.3332015094)

Advances in the diagnosis and treatment of familial colorectal cancer type X

Wuyang Ji1, Bin Wu1,()   

  1. 1. Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
  • Received:2017-02-21 Published:2017-08-25
  • Corresponding author: Bin Wu
  • About author:
    Corresponding author: Wu Bin, Email:
引用本文:

季午阳, 吴斌. 家族性结直肠癌X型研究进展[J]. 中华结直肠疾病电子杂志, 2017, 06(04): 320-323.

Wuyang Ji, Bin Wu. Advances in the diagnosis and treatment of familial colorectal cancer type X[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2017, 06(04): 320-323.

结直肠癌是中国乃至全世界最主要的癌症死亡原因之一,将近20%的结直肠癌有家族史,但仅5%的结直肠癌可能与基因突变这一因素相关。在一部分符合阿姆斯特丹诊断标准Ⅱ的家庭中,却并未发现遗传性非息肉性结直肠癌的典型遗传学表现——微卫星不稳定(MSI)和DNA错配修复基因(MMR)突变,这些患者则被称作家族性结直肠癌X型。我们通过回顾近年的相关文献研究,对家族性结直肠癌X型的临床特点及遗传学研究进展进行综述。

Colorectal cancer is a major cause of morbidity and mortality in China and also in the whole world. Up to 20% of CRCs have evidence of a familial component and about 5% are thought to be due to the well-characterized inherited mutations. In some of the families fulfilling the Amsterdam criteria for hereditary non-polyposis colorectal cancer, colorectal cancers are microsatellite stable and DNA mismatchrepair (MMR) gene mutations are not found. These families were designated as familial colorectal cancer type X (FCCTX). This review will give a full-scale view of FCCTX among multi-dimension, based on the recent articles all over the world.

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