Dados do Trabalho

Título

ANALYSIS OF SINGLE NUCLEOTIDE VARIANTS RS2294021 AND RS3761547 OF THE FOXP3 GENE AND ASSOCIATION WITH COMORBIDITIES IN PARTICIPANTS WITH BREAST CANCER

Introdução

Introduction: Breast cancer is a pathology of multifactorial origin and with a high prevalence in women worldwide. In addition to bringing great morbidity and mortality to women, this pathology leads to a great economic expense, both in Brazil and in other countries.

Objetivo

Objective: The goal of this study is understand better the genetic factor in this pathology. The Foxp3 gene has a role in regulating the immune system, and its polymorphisms have already been associated with neoplasms in the literature.

Método

Material and methods: In this study, 34 patients with breast cancer and 38 disease-free patients were analyzed. Genotyping was carried out using the polymerase chain reaction and then the samples were analyzed.

Resultado

Results: Our study demonstrated that in relation to the rs2294021 polymorphism of the FOXP3 gene, there was a higher prevalence of genotypic CT frequency in patients with breast cancer (OR: 2.96, 95% CI: 1.12-7.52, p <0.05). The rs3761547 polymorphism demonstrated a positive trend for heterozygous AG in relation to susceptibility to the development of breast cancer in our study (OR: 3.44 95% CI: 0.93-10.72, p <0.07). Furthermore, a significant positive correlation was observed between the genetic variants of rs2294021 polymorphism with the presence of high blood pressure, elevated BMI and body weight.

Conclusão

Conclusion: We conclude that the rs2294021 polymorphism is strongly associated with the risk of developing breast cancer, however, further studies are still needed to globally characterize which genotype is most susceptible in each population.

Palavras-chave

Key words: Breast Cancer, FOXP3, genetic polymorphism