Abstract
Moyamoya disease (MMD)-associated gene RNF213 has emerged as a critical player in the pathogenesis of a spectrum of cancers beyond its established role in MMD. This review synthesizes current understanding of RNF213's structural characteristics, its fundamental functions, and its intricate associations with various malignancies. Mutations in RNF213 are strongly correlated with MMD risk, particularly in East Asian populations, and are linked to disease severity and age of onset. The gene's role extends to the tumor microenvironment, where it influences cancer cell proliferation, migration, invasion, and immune evasion, as evidenced in gliomas, lung cancers, and breast cancers. Our analysis highlights the gene's potential mechanisms in cancer development, including effects on mitotic abnormalities leading to genomic instability, modulation of cellular immunity, and metabolic reprogramming in tumor cells. We delve into the gene's implication in immune responses and its potential as a biomarker and therapeutic target in oncology. Collectively, the evidence supports the notion of RNF213 as a tumor suppressor gene, whose mutations are associated with poor prognosis. The exploration of its role in cancer holds promise for advancing diagnostic and therapeutic strategies. Future research is warranted to elucidate the underlying mechanisms and to harness the full potential of RNF213 in cancer treatment.