Pharmacogenetic analysis of the pregnane x receptor in breast cancer. Case-control study

Dissertação de Mestrado, Mestrado em Qualidade em Análises, Faculdade de Ciências e Tecnologia, Universidade do Algarve, 2015

Breast cancer is the most common kind of cancer affecting women worldwide, with approximately 1.67 million new cancer cases diagnosed in 2012, which accounts for 25% of all cancers. On average, 1 in 8 women develop breast cancer during their lifetime. In this work, results from a case-control study on breast cancer in Portuguese patients, recruited by the Research Unit in Human Molecular Genetics, Lisbon, Portugal, were analysed. DNA extraction and genotyping were performed in the Laboratory of Pharmacogenomics and Molecular Toxicology, Centre for Biomedical Research (CBMR), University of Algarve. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) of a selected polymorphism in the Pregnane X receptor was employed in order to evaluate the potential role of this receptor in the susceptibility to the disease. PXR allelic and genotype frequencies in individuals with and without breast cancer were analysed by means of Chi-square (χ2) testing and calculation of Odds Ratios. According to the obtained results, there is a negative association of the PXR genotype A/A with breast cancer, and a positive association of the A/G genotype with the disese, with a 95% confidence level. On the other hand, the genotype G/G and the the alleles A and G considered individually have no significant association with the disease.

Erasmus Mundus