Abstract

BackgroundEmerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when reporting association between the hsa-miR-196a2 rs11614913 common polymorphism and breast cancer.MethodsThis study evaluated the hsa-miR-196a2 rs11614913 SNP in 388 breast cancer cases and 388 controls in Brazilian women. Polymorphism was determined by real-time PCR; control and experimental groups were compared through statistical analysis using the X2 or Fisher’s exact tests.ResultsThe analysis of the SNPs frequencies showed a significant difference between the groups (BC and CT) in regards to genotype distribution (χ2: p = 0.024); the homozygous variant (CC) was more frequent in the CT than in the BC group (p = 0.009). The presence of the hsa-miR-196a2 rs11614913 C/T polymorphism was not associated with histological grades (p = 0.522), axillary lymph node positive status (p = 0.805), or clinical stage (p = 0.670) among the breast cancer patients.ConclusionsThe results of this study indicated that the CC polymorphic genotype is associated with a decreased risk of BC and the presence of the T allele was significantly associated with an increased risk of BC.

Highlights

  • Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes

  • MiRNAs have an enormous potential as biomarkers of breast cancer (BC) because their expression is known to be aberrant in cancer with pathognomonic profiles, that is, related to specific tissues; in addition, they are notably stable molecules that remain well preserved in formalin, paraffinembedded tissues, and fresh or frozen tissues [4,5]

  • The analysis of the frequencies showed a significant difference in genotype distribution between groups (BC and CT) (χ2: p = 0.024); the homozygous variant (CC) was more frequent in the CT group than in the BC group (p = 0.009)

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Summary

Introduction

Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and influence the expression of mature miRNAs. Previous studies generated conflicting results when reporting association between the hsa-miR-196a2 rs11614913 common polymorphism and breast cancer. Recent studies have demonstrated the involvement of these regulatory molecules in the development of breast cancer (BC) [1]. Zhang et al compared the expression patterns of miRNAs between healthy and BC mammary tissues and observed, preliminarily, that various miRNAs are expressed in different ways in BC. This observation lead to the hypothesis that expression profiles of miRNAs could be correlated with special tumor phenotypes or associated with tumor suppression or tumorigenesis [2]. MiRNAs have an enormous potential as biomarkers of BC because their expression is known to be aberrant in cancer with pathognomonic profiles, that is, related to specific tissues; in addition, they are notably stable molecules that remain well preserved in formalin, paraffinembedded tissues, and fresh or frozen tissues [4,5]

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