Pharmacogenomics of 5-Fluorouracil in Oesophageal Carcinoma: Association of Single Nucleotide Polymorphisms with Efficacy & Adverse Effects

Abstract

Esophageal carcinoma (EC) is a highly fatal cancer. The usual therapy for localized squamous cell carcinoma has traditionally been surgically removing the tumor from its main location. However, recent clinical advancements have led to the development of new therapeutic options. The available choices encompass chemotherapy which involves continuous administration of 5-fluorouracil (5-FU), cisplatin, and simultaneous radiation treatment. To enhance clinical outcomes, future advancements would have to improve the integration of new anticancer medications, the administration of cisplatin,  or 5-FU, guided by pharmacokinetics, and the identification of potential responders through genetic profiling of patients before treatment initiation. This review provides a comprehensive summary of the information about the genetic variation in ABCB1, ERCC!, TYMS, XPD, and DYPD genes that most likely contribute to the pharmacokinetic or genotype-guided administration of 5-FUfor the treatment of oesophageal cancer. The review aims to facilitate personalized treatment strategies for this condition in the future.