Open Access Research article

The ESR1 gene is associated with risk for canine mammary tumours

Kaja Sverdrup Borge1*, Malin Melin2, Patricio Rivera34, Stein Istre Thoresen5, Matthew Thomas Webster2, Henrik von Euler6, Kerstin Lindblad-Toh27 and Frode Lingaas1

Author Affiliations

1 Section of Genetics, Department of Basic Sciences and Aquatic Medicine, Norwegian School of Veterinary Science, P.O Box 8146 Dep., 0033 Oslo, Norway

2 Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden

3 During the present work: Department of Animal Breeding and Genetics, Uppsala University, Uppsala, Sweden

4 Currently: Bagarmossen Animal Hospital, Stockholm, Sweden

5 Section for Clinical Pathology, Department of Basic Sciences and Aquatic Medicine, Norwegian School of Veterinary Science, Oslo, Norway

6 Department of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden

7 Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, 02139, USA

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BMC Veterinary Research 2013, 9:69  doi:10.1186/1746-6148-9-69

Published: 10 April 2013



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.


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).


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.

Dog; Single nucleotide polymorphism; Allele frequency; Risk; Association; Mammary tumour; Estrogen receptor