Analysis of the Frequency of Genetic Variants in ABCB1 gene in Oncology Patients of the Brazilian Unified Health System

• Grant number: 25/10621-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: September 01, 2025
• End date: August 31, 2026
• Field of knowledge: Health Sciences - Pharmacy
• Principal Investigator: Patricia Moriel
• Grantee: Carolina Luchesi Canizares
• Host Institution: Faculdade de Ciências Farmacêuticas (FCF). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The Brazilian population is one of the most genetically diverse in the world due to its extensive admixture among Africans, Europeans, and Native Americans. This characteristic results in significant and complex genetic diversity. Currently, with advances in personalized medicine research, pharmacogenetics has been increasingly applied to optimize the efficacy and safety of treatments, especially in the use of antineoplastic drugs. Although the application of pharmacogenetics offers numerous benefits, most studies are based on predominantly European cohorts, and extrapolating this data to highly admixed populations, such as the Brazilian one, may lead to inaccuracies and misinterpretations. This highlights the limitations of applying global clinical guidelines to such populations. Therefore, investigating genetic variants and their frequencies in admixed cohorts helps to minimize adverse effects in order to optimize cancer treatment.Thus, the objective of this study is to characterize the frequency of genetic variants in ABCB1, a gene related to the transport of antineoplastic agents, in the Brazilian population treated by the Unified Health System (Sistema Único de Saúde - SUS). To achieve this, a retrospective cohort study (n = 900) will be conducted with patients diagnosed with gynecological, lung, or head and neck cancers, regardless of clinical stage. Information on the clinical history of these patients will be collected. In addition, genomic DNA will be extracted from peripheral blood leukocytes previously collected. The purity of the extracted DNA will be assessed using the QuantiFluor® dsDNA System (Promega), and concentrations will be standardized using PCR-grade water for subsequent genotyping.The identification of single nucleotide variants (SNVs) will be performed using the Infinium Global Diversity Array with Enhanced PGx (GDA PGx; Illumina) on the iScan system (Illumina). Hardy-Weinberg equilibrium will be assessed for all SNVs studied. The significance level adopted for all statistical analyses will be 5% (p < 0.05). (AU)