Yao C J, Du W, Zhang Q, Zhang F, Zeng F, Chen F P
Department of Hematology, Central South University Third Xiangya Hospital, Changsha, China.
Pharmazie. 2013 Jan;68(1):5-11.
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.
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。
