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The ESR1 gene is associated with risk for canine mammary tumours
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2013 (English)In: BMC Veterinary Research, ISSN 1746-6148, E-ISSN 1746-6148, Vol. 9, 69- p.Article in journal (Refereed) Published
Abstract [en]

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 P-Bonf = 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 P-Bonf = 8.8E-32, best P-BPerm = 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.

Place, publisher, year, edition, pages
2013. Vol. 9, 69- p.
Keyword [en]
Dog, Single nucleotide polymorphism, Allele frequency, Risk, Association, Mammary tumour, Estrogen receptor
National Category
Agricultural Sciences Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-200351DOI: 10.1186/1746-6148-9-69ISI: 000318046000001OAI: oai:DiVA.org:uu-200351DiVA: diva2:623603
Available from: 2013-05-28 Created: 2013-05-27 Last updated: 2017-12-06Bibliographically approved

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Melin, MalinWebster, Matthew ThomasLindblad-Toh, Kerstin

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