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腺瘤性结肠息肉病(APC)基因突变在结直肠癌发病机制中的作用;现状与展望。

Role of adenomatous polyposis coli (APC) gene mutations in the pathogenesis of colorectal cancer; current status and perspectives.

机构信息

Department of Human Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran; Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.

Pharmaceutical Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Biochimie. 2019 Feb;157:64-71. doi: 10.1016/j.biochi.2018.11.003. Epub 2018 Nov 8.

DOI:10.1016/j.biochi.2018.11.003
PMID:30414835
Abstract

Colorectal cancer (CRC) is one of the most common forms of solid tumors in the world with high rates of mortality and morbidity. Most cases of CRCs are initiated by inactivating mutations in a tumor suppressor gene, adenomatous polyposis coli (APC), leading to constitutive activation of the Wnt signaling pathway. This review summarizes the roles of somatic and germline mutations of the APC gene in hereditary as well as sporadic forms of CRC. We also discuss the diagnostic and prognostic value of the APC gene in the pathogenesis of CRC for a better understanding of CRC disease.

摘要

结直肠癌(CRC)是世界上最常见的实体肿瘤之一,其死亡率和发病率都很高。大多数 CRC 是由肿瘤抑制基因 APC 的失活突变引起的,导致 Wnt 信号通路的组成性激活。本综述总结了 APC 基因的体细胞和种系突变在遗传性和散发性 CRC 中的作用。我们还讨论了 APC 基因在 CRC 发病机制中的诊断和预后价值,以更好地了解 CRC 疾病。

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