Affiliations: [a] Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil | [b] Center for Cell-Based Therapy, National Institute of Science and Technology in Stem Cell and Cell Therapy, Regional Blood Center of Ribeirão Preto, Ribeirão Preto, Brazil
Correspondence:
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Corresponding author: Andrés Felipe Aristizabal-Pachon, Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil. Tel.: +55 16 991552314; Fax: +55 16 21019362; E-mail:afaristizabal@usp.br;sagipe07@gmail.com
Abstract: BACKGROUND: Breast cancer is one of the principal causes of death
among Brazilian women, so it is a challenge to find new and specific early
diagnostic markers, using simple and fast procedures. GSK3β gene is an important
Wnt signaling regulator involved in β-Catenin degradation. Wnt
signaling is associated with initiation and progression process in many
tumor types, and alterations in β-Catenin explain only a small
proportion of aberrant signaling found in breast cancer, indicating that
other Wnt signaling components and/or regulators as GSK3β may be
involved. OBJECTIVE: The aim of this study was to evaluate the genetic,
epigenetic and transcriptional alterations of GSK3β in breast cancer. METHODS: Peripheral blood samples from 204 breast cancer and
healthy women were collected. Assessment of rs334558 polymorphism was
performed by PCR-RFLP, promoter methylation profiles analysis by MS-PCR and
qPCR was used to determine GSK3β expression levels. RESULTS: The rs334558 polymorphism showed a strong association with
aggressive cancer. A significant increase was observed in GSK3β expression level
respect to hormone receptors status and tumor size. CONCLUSION: The results indicated an inverse relationship between
GSK3β performance and tumor progression. This is the first study to
relate GSK3β gene with breast cancer in Brazilian population.
