Epigenetic Modifications in Cancer Etiology, Diagnosis and Therapy

Epigenetic modifications are implicated in the etiologies of various diseases, with cancer being a prominent example. Cancer, a debilitating disease, stands to benefit significantly from advances in the field of epigenetics. Unfortunately, epigenetics has not received sufficient attention and has not been integrated into mainstream healthcare. This study aims to raise public awareness about the link between epigenetics and disease etiologies, with a particular focus on cancer therapeutics. Relevant information was retrieved from reputable academic databases, including Embase, PubMed, Scopus and SpringerLink. The results indicate that epigenetic modifications, mainly noncoding RNA silencing, DNA methylation and histone modification, are essential for growth and development. However, aberrant epigenetic modifications or those exceeding normal levels can lead to diseases. Specifically, abnormal epigenetic changes in tumor suppressor genes (e.g., TP53, RB1, NF1, NF2, CDKN2A, WT1, BRCA1, BRCA2, PARP-1, VHL, APC, PTEN, PTCH1 and CDH1), oncogenes (e.g., RAS, EGFR, EML4AK, LINE-1 and SAT2) or DNA repair genes (e.g., MSH2, MSH6, MLH1, PMS1 and PMS2) can result in cancer. Furthermore, some epigenetic changes are reversible, suggesting that therapeutics targeting these changes in predisposed individuals could be more effective. Epigenetic tests such as Epicup^®, Cologuard^® and EpiproColon^®, along with epigenetic drugs like Azacitidine, Belinostat and Tubacin, have been developed for cancer treatment. However, these drugs face challenges related to poor pharmacokinetics and safety due to a lack of specificity and off-target effects. These issues are currently being addressed with epigenomic therapies. Health professionals are encouraged to target epigenetic changes in predisposed individuals to achieve better outcomes.