Fig. 5

Provides a schematic representation of epigenetic biomarkers used for cancer diagnosis and prognosis. Key examples include DNA methylation, where hypermethylation of tumor suppressor genes like p16INK4a and hypomethylation of oncogenes such as MYC can signal various cancers, including melanoma and colon cancer. Histone modifications also play a crucial role; for instance, increased acetylation of histone H3 lysine 27 (H3K27ac) is linked to active gene expression in prostate cancer, while specific methylation marks like trimethylation of histone H3 lysine 4 (H3K4me3) are associated with active promoters in leukemias. Non-coding RNAs, including miR-21, are associated with poor prognosis in breast cancer and lung cancer, and HOTAIR lncRNA overexpression is linked to metastasis in breast cancer and colorectal cancer. Chromatin remodeling factors such as mutations in BRG1 (part of the SWI/SNF complex) are found in small-cell lung cancer and endometrial cancer, affecting gene expression. Additionally, genomic imprinting anomalies, such as overexpression of the IGF2 gene, are seen in Wilms’ tumor and can influence cancer progression. These biomarkers are pivotal in advancing cancer diagnosis, predicting disease outcomes, and guiding personalized treatments