Pharmacogenetic testing in oncology: a Brazilian perspective.

摘要: Pharmacogenetics, a major component of individualized or precision medicine, relies on human genetic diversity. The remarkable developments in sequencing technologies have revealed that the number variants modulating drug action is much higher than previously thought and true personalized prediction response requires attention to rare mutations (minor allele frequency, MAF 1%) pharmacogenes. This has implications for conceptual development clinical implementation pharmacogenetics. Drugs used cancer treatment been targets pharmacogenetics studies, encompassing both germline polymorphisms somatic tumor genome. present overview, however, narrower scope focused pharmacogenetics, more specifically, drug/gene pairs which pharmacogenetics-informed prescription guidelines published by Clinical Pharmacogenetics Implementation Consortium and/or Dutch Pharmacogenetic Working Group, namely, thiopurines/TPMT, fluoropyrimidines/UGT1A1, irinotecan/UGT1A1 tamoxifen/CYP2D6. I begin reviewing general principles prescription, testing perceived barriers adoption routine practice. Then, highlight aspects selected drug-gene finally data from Brazilian studies pertinent these pairs. conclude with notion potential greatly benefit patients enabling medicine applied therapy, ensuring better efficacy reducing risk adverse effects.