Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk

Mol Biol Rep. 2012 Mar;39(3):2915-9. doi: 10.1007/s11033-011-1053-2. Epub 2011 Jun 19.


Breast cancer is a major cause of cancer-related deaths in women. It is known that obesity is one of the risk factors of breast cancer. The subject of our interest was genes: FTO, MC4R and NRXN3-associated with obesity. In this study we have analyzed frequencies of genomic variants in FTO, MC4R and NRXN3 in the group of 134 breast cancer patients. We genotyped two polymorphic sites located in FTO gene (rs993909 and rs9930506), one polymorphic site of MC4R gene (rs17782313) and one polymorphic site of NRXN3 gene (rs10146997). Our hypothesis was that above mentioned SNPs could participate in carcinogenesis. Our research has showed that only rs10146997 was significantly (P = 0.0445) associated with higher risk of breast cancer development (OR = 0.66 (95% CI 0.44-0.99)). Moreover, G allele carriers in rs10146997 of the NRXN3 gene were the youngest patients at onset of breast cancer. On the basis of our research we suggest that further functional may elucidate the role of genomic variation in breast cancer development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Odds Ratio
  • Poland / epidemiology
  • Polymorphism, Single Nucleotide / genetics*
  • Proteins / genetics*
  • Receptor, Melanocortin, Type 4 / genetics*
  • Risk Factors


  • MC4R protein, human
  • Nerve Tissue Proteins
  • Proteins
  • Receptor, Melanocortin, Type 4
  • neurexin IIIalpha
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO
  • FTO protein, human