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范可尼贫血通路——DNA链间交联修复的途径。

Fanconi anemia pathway--the way of DNA interstrand cross-link repair.

作者信息

Yao C J, Du W, Zhang Q, Zhang F, Zeng F, Chen F P

机构信息

Department of Hematology, Central South University Third Xiangya Hospital, Changsha, China.

出版信息

Pharmazie. 2013 Jan;68(1):5-11.

Abstract

The study of rare genetic diseases usually inspires the research of cancer biology. Fanconi anemia (FA), is a rare cancer susceptibility syndrome with an incidence of only 1 per 350,000 births. FA is an autosomal recessive disease with three main features: chromosome instability, hypersensitivity to DNA cross-linking agents such as mitomycin C (MMC), cisplatin and so on, and susceptible to a number of cancer types, mainly leukemia and squamous cell carcinomas of the head and neck or gynecologic system. DNA crosslinking agents may led to DNA cross-linking lesion, and Fanconi anemia pathway plays a key role in repairing its cross-linking. However, FA pathway is closely linked with carcinogenesis and tumor drug resistance. This paper mainly focuses on the FA pathway and its progress in cancer research.

摘要

对罕见遗传病的研究通常会激发癌症生物学的研究。范可尼贫血(FA)是一种罕见的癌症易感性综合征,发病率仅为每35万例出生中1例。FA是一种常染色体隐性疾病,具有三个主要特征:染色体不稳定、对诸如丝裂霉素C(MMC)、顺铂等DNA交联剂高度敏感,以及易患多种癌症类型,主要是白血病和头颈部或妇科系统的鳞状细胞癌。DNA交联剂可能导致DNA交联损伤,而范可尼贫血通路在修复其交联过程中起关键作用。然而,FA通路与致癌作用和肿瘤耐药性密切相关。本文主要聚焦于FA通路及其在癌症研究中的进展。

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