PMID- 23574728 OWN - NLM STAT- MEDLINE DCOM- 20131210 LR - 20211021 IS - 1746-6148 (Electronic) IS - 1746-6148 (Linking) VI - 9 DP - 2013 Apr 10 TI - The ESR1 gene is associated with risk for canine mammary tumours. PG - 69 LID - 10.1186/1746-6148-9-69 [doi] AB - 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. FAU - Borge, Kaja Sverdrup AU - Borge KS AD - Section of Genetics, Department of Basic Sciences and Aquatic Medicine, Norwegian School of Veterinary Science, P,O Box 8146 Dep,, 0033 Oslo, Norway. KajaSverdrup.Borge@nvh.no FAU - Melin, Malin AU - Melin M FAU - Rivera, Patricio AU - Rivera P FAU - Thoresen, Stein Istre AU - Thoresen SI FAU - Webster, Matthew Thomas AU - Webster MT FAU - von Euler, Henrik AU - von Euler H FAU - Lindblad-Toh, Kerstin AU - Lindblad-Toh K FAU - Lingaas, Frode AU - Lingaas F LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20130410 PL - England TA - BMC Vet Res JT - BMC veterinary research JID - 101249759 RN - 0 (Estrogen Receptor alpha) SB - IM MH - Alleles MH - Animals MH - Dog Diseases/*genetics MH - Dogs MH - Estrogen Receptor alpha/*genetics MH - Female MH - Genetic Association Studies/veterinary MH - Genetic Predisposition to Disease MH - Haplotypes/genetics MH - Mammary Neoplasms, Animal/*genetics MH - Polymorphism, Single Nucleotide/genetics MH - Risk Factors MH - Sequence Alignment/veterinary PMC - PMC3637093 EDAT- 2013/04/12 06:00 MHDA- 2013/12/16 06:00 PMCR- 2013/04/10 CRDT- 2013/04/12 06:00 PHST- 2012/10/29 00:00 [received] PHST- 2013/03/25 00:00 [accepted] PHST- 2013/04/12 06:00 [entrez] PHST- 2013/04/12 06:00 [pubmed] PHST- 2013/12/16 06:00 [medline] PHST- 2013/04/10 00:00 [pmc-release] AID - 1746-6148-9-69 [pii] AID - 10.1186/1746-6148-9-69 [doi] PST - epublish SO - BMC Vet Res. 2013 Apr 10;9:69. doi: 10.1186/1746-6148-9-69.