Aberrant methylated and expressed genes as potential biomarkers for breast cancer in saudi patients

This is the authors' abstract. We don't add key points for this paper.

This study aimed to investigate the DNA methylation landscape that leads to dysregulation of breast cancer (BC)-related genes. Whole-genome bisulfite sequencing and bulk RNA sequencing were conducted to assay differentially methylated and expressed genes from blood samples. Cancer hallmark enrichment analysis was performed to obtain biological insights into the functional relevance of gene sets among tumors, whereas single-cell RNA sequencing datasets examined the characterization of immune, stromal, and malignant cell populations of the tumor microenvironment for primary vs metastatic BC. Data revealed 11 differentially methylated and expressed genes distributed into ten key pathways, covering alteration of immune-related (TCR, BCR, and chemokine signaling) pathways. AKT1, GRK2, GRK6, FOXO3, NFATC2, and VAV3 genes exhibited significant hypomethylation and were most frequently distributed within obtained pathways. Aberrant hypomethylation and its impact on gene expression could serve as potential novel prognostic biomarkers that may aid in detecting suitable treatment approaches to improve patient outcomes.