The ESR1 gene is associated with risk for canine mammary tumours

BMC Vet Res. 2013 Apr 10;9:69. doi: 10.1186/1746-6148-9-69.


Background: The limited within-breed genetic heterogeneity and an enrichment of disease-predisposing alleles have made the dog a very suitable model for the identification of genes associated with risk for specific diseases. Canine mammary cancer is an example of such a disease. However, the underlying inherited risk factors for canine mammary tumours (CMTs) are still largely unknown. In this study, 52 single nucleotide polymorphisms (SNPs) in ten human cancer-associated genes were genotyped in two different datasets in order to identify genes/alleles associated with the development of CMTs. The first dataset consisted of English Springer Spaniel (ESS) CMT cases and controls. ESS is a dog breed known to be at increased risk of developing CMTs. In the second dataset, dogs from breeds known to have a high frequency of CMTs were compared to dogs from breeds with a lower occurrence of these tumours.

Results: We found significant associations to CMT for SNPs and haplotypes in the estrogen receptor 1 (ESR1) gene in the ESS material (best PBonf = 0.021). A large number of SNPs, among them several SNPs in ESR1, showed significantly different allele frequencies between the high and low risk breed groups (best PBonf = 8.8E-32, best PBPerm = 0.076).

Conclusions: The identification of CMT-associated SNPs in ESR1 in two independent datasets suggests that this gene might be involved in CMT development. These findings also support that CMT may serve as a good model for human breast cancer research.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Dog Diseases / genetics*
  • Dogs
  • Estrogen Receptor alpha / genetics*
  • Female
  • Genetic Association Studies / veterinary
  • Genetic Predisposition to Disease
  • Haplotypes / genetics
  • Mammary Neoplasms, Animal / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors
  • Sequence Alignment / veterinary


  • Estrogen Receptor alpha