Association of novel gene polymorphisms RRM1 -756T>C and -269 C>A with breast cancer

J Clin Lab Anal. 2014 Jul;28(4):287-93. doi: 10.1002/jcla.21682. Epub 2014 Feb 27.

Abstract

Background: Genetic variants are reported to play an important role in the susceptibility of breast cancer. Ribonucleotide reductase 1 (RRM1) is suggested to play an essential role in the regulation of cancer development. The purpose of this study was to identify novel gene polymorphisms of RRM1 -756T>C and RRM1 -269 C>A specific to patients with breast cancer and healthy controls.

Methods: A total of 833 subjects, including 321 healthy controls and 512 patients with breast cancer, were recruited in this study. Allelic discrimination of RRM1 -756T>C (rs11030919) and RRM1 -269C>A (rs12806698) polymorphisms of the RRM1 gene was assessed with the real-time polymerase chain reaction.

Results: The adjusted odds ratios and 95% confidence intervals were 1.20 (0.71-2.04) and 1.10 (0.65-1.86) to have breast cancer among individuals with CC alleles of RRM1 -756T>C and individuals with AA alleles of RRM1 -269C>A gene polymorphism, respectively, compared to individuals having wild type of RRM1 gene polymorphisms. Also, there was no significant genetic interaction effect on the susceptibility of breast cancer and nonassociation between genetic polymorphisms and clinical statuses of breast cancer.

Conclusion: Gene polymorphisms of RRM1 -756T>C and RRM1 -269C>A may be not an important factor for the susceptibility of breast cancer.

Keywords: breast cancer; ribonucleotide reductase 1; single nucleotide polymorphism.

MeSH terms

  • Adult
  • Breast Neoplasms / enzymology*
  • Breast Neoplasms / genetics*
  • Confidence Intervals
  • Female
  • Gene Frequency / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Humans
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Single Nucleotide / genetics*
  • Ribonucleoside Diphosphate Reductase
  • Tumor Suppressor Proteins / genetics*

Substances

  • Tumor Suppressor Proteins
  • RRM1 protein, human
  • Ribonucleoside Diphosphate Reductase