Afsoon Taghavi - Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammad Esmaeil Akbari - Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Nahid Nafissi - Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Breast cancer (BC) is a multifactorial disease with various genetic, epigenetic, and environmental causes. This study investigated association of the UTP23 gene polymorphism (rs13250873) with EXT1 mRNA expression in developing and relapsing (recurrence) of BC disease. Methods: Breast tissues obtained from 70 women assigned to three groups of primary BC (n= 55), recurrent BC (n= 15), and healthy age-matched controls referring for mammoplasty (n= 25), were studied. Tissue DNA content was extracted; the UTP23 gene region of interest was amplified by PCR assay, and analyzed for the G→A SNP (rs13250873) by automated sequencing. The mRNA expression of theEXT1 gene was measured by real-time PCR assay. Results: Frequency of the allele A was insignificantly and distribution of the AA-homozygosity markedly higher among BC group compared to the control (0.471 vs. 0.340, P> 0.05; and 26% vs. 4%, P= 0.020, respectively), with allelic odds ratio of 1.7. Also, frequency of the allele A and distribution of AA-homozygosity were insignificantly higher in the recurrent BC group compared to primary BC group (0.533 vs. 0.455 and 33.3% vs. 23.6%, respectively), with allelic odds ratio of 1.36. The EXT1 expression was decreased in the recurrent BC compared to the primary BC and healthy groups (P= 0.018 and P= 0.002, respectively). The rs13250873 strongly associated with EXT1 expression in the primary (r= 0.751; P< 0.001) and recurrent (r= 0.833; P< 0.001) BC groups. Conclusions: Simultaneous evaluating of rs13250873 and EXT1 mRNA expression might be useful as a biomarker for identifying individuals who are at risk of BC development and relapse

Breast neoplasm, Exostoses-1, SNP, Relapse, rs13250873