Pharmacogenomics of gynecological disorders

Abstract

Pharmacogenomics aims to identify the genome-based variability in drug disposition (metabolism and transport), which influences its efficacy and toxicity, and also to develop diagnostics and therapeutics on the basis of genetic variants so as individualize pharmacotherapy. Progress made in the last two decades in pharmacogenomics study of gynecological diseases has enabled us to predict the therapy outcome on the basis of inherited or acquired genetic mutations. The present chapter focuses on the clinical relevance of genetic variation in terms of diagnosis, prognosis, and therapeutics in context to this group of diseases with special reference to gynecological cancers. Various disease susceptibility genes and their polymorphisms of gynecological disorders have been identified, and their molecular diagnostics and targeted therapies developed. To name a few well studied are BRCA1/2, HER2, GSTT1, GSTM1, CYP1B1, PPAR-γ, VEGF, etc. Detailed account of the genetic components and their variants associated with each disease and how it influences the discourse of the disease and individualization of the therapy is given here.