The CAG repeat polymorphism of the androgen receptor gene and breast cancer

Maria Nowacka-Zawisza,E. Forma,A. Urbańska,H. Romanowicz‐Makowska,M. Bryś,W. Krajewska

Published 2014 in Central European Journal of Biology

ABSTRACT

BackgroundGenetic variants in hormone receptor genes may be crucial predisposing factors for breast cancer, and microsatellites in the androgen receptor gene (AR) have been suggested to play a role. The aim of the study was to determine the association between the length of the CAG repeats in the AR gene and the development of breast cancer. Methodology: In total, 75 breast cancer cases and 50 healthy controls were analyzed for CAG repeats in the AR gene by polymerase chain reaction and the GeneScan/Genotyping technique.ResultsCAG repeat genotypes and alleles distribution were found to be significantly different between breast cancer patients and controls (P < 0.05). While the presence of CAG repeats shorter than 22 (classified as short, S) increases the risk of breast cancer, the risk is reduced by the presence of CAG repeats longer than 22. In the group of patients with breast cancer, a high tumor stage was found to have a significant association with genotype S/S of CAG repeats in the AR gene.ConclusionOur results suggest that the length of CAG repeats in the androgen receptor gene is associated with the risk of developing breast cancer.

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