Diagnostic significance and prognostic role of the ARID1A gene in cancer outcomes (Review)

Abstract

Mutations of the ARID1A gene, which encodes the basic directional subunit of SWI/SNF chromatin remodeling complexes, were detected in the middle of the last decade in several cancerous tissue types, highlighting its tumour-suppressive role. Since then, functional studies of the homologous protein have indicated that through its interactions with nucleosomal DNA, transcription factors and nuclear hormone receptors, it plays a key role in regulating cellular proliferation, gene expression and the repair of genetic material, while the loss of its expression triggers carcinogenesis, through mechanisms which have not yet been elucidated. This bibliographic review of clinical investigations focused on the detection of ARID1A mutations and expression levels in malignant tumours, as well as on their association with the prognosis of ARID1A-deficient patients exhibiting a high degree of heterogeneity in the corresponding research findings. The clarification of the prognostic significance of the gene requires further investigation, focusing on cancers and patients of common clinicopathological features.