Original scientific paper

https://doi.org/10.46419/vs.52.5.1

Detection of single nucleotide polymorphisms (SNPs) in HER2, MUC1, ESR1, and BRCA1 genes associated with canine mammary cancer

Juan D. Carvajal-Agudelo ; Grupo de Investigación GEBIOME, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas y Naturales, Universidad de Caldas, Calle 65 No. 26-10 Apartado Aéreo 275 Manizales, Caldas, Colombia
Laura Giraldo-Chalarca ; Grupo de Investigación GEBIOME, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas y Naturales, Universidad de Caldas, Calle 65 No. 26-10 Apartado Aéreo 275 Manizales, Caldas, Colombia
Diana M. Cortes-Mera ; Grupo de Investigación GEBIOME, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas y Naturales, Universidad de Caldas, Calle 65 No. 26-10 Apartado Aéreo 275 Manizales, Caldas, Colombia
Paula A. Ossa-López ; Grupo de Investigación GEBIOME, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas y Naturales, Universidad de Caldas, Calle 65 No. 26-10 Apartado Aéreo 275 Manizales, Caldas, Colombia
Edwin D. Morales-Álvarez ; Grupo de Investigación GEBIOME, Departamento de Química, Facultad de Ciencias Exactas y Naturales, Universidad de Caldas, Calle 65 No. 26-10 Apartado Aéreo 275 Manizales, Caldas, Colombia
Fredy A. Rivera-Páez orcid.org/0000-0001-8048-5818 ; Grupo de Investigación GEBIOME, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactasay Naturales, Universidad de Caldas, Calle 65 No. 26-10 Apartado Aéreo 275 Manizales, Caldas, Colombia

Abstract

Worldwide, canine mammary cancer (CMC) is the most frequent type of neoplasia in female dogs, and it is three times more frequent in dogs than in humans. In Colombia, CMC is the second most frequent type of cancer, after skin neoplasia. Genetics is one of the most important factors involved in any type of cancer, and the genetic basis of this disease is reflected through line breeding due to changes in allelic frequencies that are traceable using molecular markers. This study aimed to detect single nucleotide polymorphisms (SNPs) associated with CMC in blood samples collected from collected from healthy and CMC female dogs at Diego Villegas Toro Veterinary Hospital of Universidad de Caldas (Manizales, Colombia). We designed primers using Primer-BLAST and Primer3, and gene fragments from HER2, MUC1, ESR1, and BRCA1 were amplified to identify SNPs through genome mapping using the UCSC Genome Institute genome browser. We used the genome of Canis lupus familaris Boxer breed [GCF_000002285.3, (CanFam 3.1)] as a reference to compare the gene fragments and SNPs. We associated SNPs with the CMC and control groups by testing odds ratios (OR) through Fisher’s exact tests to determine an association or risk for CMC. We detected two SNPs for ESR1, three for MUC1, six for HER2, and one for BRCA1. MUC1 was the only gene to display an SNP in
an exonic region that resulted in an amino acid substitution (Pro>Thr). No significant differences based on the OR were found, though the majority of SNPs, with the exception of four, were found in females with CMC. We report a novel molecular marker for HER2 that amplifies exons 25–26 and introns 24-25, and highlight the importance of conducting further studies on MUC1 and elucidating the role of introns and splicing in candidate genes associated with CMC.

Keywords

genetic mapping; genetic variation; intron; mammary neoplasia; SNP association

Hrčak ID:

248761

URI

https://hrcak.srce.hr/248761

Publication date:

1.2.2021.

Article data in other languages: croatian

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