Fanconi Anemia: Exploration of DNA Repair Pathways from Genetic Diseases to Cancer and Prospects for Treatment
10.3971/j.issn.1000-8578.2024.23.0772
- VernacularTitle:范可尼贫血：从遗传疾病到癌症关联的DNA修复通路探索与治疗展望
- Author:
Jinyu SHI
1
;
Lin XING
;
Shijia LIU
;
Wenhao LYU
;
Bingyan ZHANG
;
Lijun XU
;
Yafen ZHANG
Author Information
1. Department of Breast Surgery, Fifth Hospital of Shanxi Medical University, Shanxi Provincial People's Hospital, Taiyuan 030000, China
- Publication Type:Research Article
- Keywords:
Fanconi anemia pathway;
DNA damage repair;
Cancer susceptibility;
Prognosis;
Targeted therapy
- From:
Cancer Research on Prevention and Treatment
2024;51(1):67-72
- CountryChina
- Language:Chinese
-
Abstract:
Fanconi anemia (FA) is an inheritable disorder that presents with bone marrow failure, developmental anomalies, and an increased susceptibility to cancer. The etiology of this condition stems from a genetic mutation that disrupts the proper repair of interstrand DNA cross-links (ICLs). The resultant dysregulation of the DNA damage response mechanism can induce genomic instability, thereby elevating the mutation rates and the likelihood of developing cancer. The FA pathway assumes a pivotal role in safeguarding genome stability through its involvement in the repair of DNA cross-links and the maintenance of overall genomic integrity. A mutation in the germ line of any of the genes responsible for encoding the FA protein results in the development of FA. The prevalence of aberrant FA gene expression in somatic cancer, coupled with the identification of a connection between FA pathway activation and resistance to chemotherapy, has solidified the correlation between the FA pathway and cancer. Consequently, targeted therapies that exploit FA pathway gene abnormalities are being progressively developed and implemented. This review critically examines the involvement of the FA protein in the repair of ICLs, the regulation of the FA signaling network, and its implications in cancer pathogenesis and prognosis. Additionally, it explores the potential utility of small-molecule inhibitors that target the FA pathway.
