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Pathol Oncol Res. 2018 Jul;24(3):457-465. doi: 10.1007/s12253-017-0267-6. Epub 2017 Jun 24.

Breast Cancer Risk Associated with Genotype Polymorphisms of the Aurora Kinase a Gene (AURKA): a Case-Control Study in a High Altitude Ecuadorian Mestizo Population.

Author information

1
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Avenue Mariscal Sucre, 170129, Quito, Ecuador. aalc84@gmail.com.
2
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Avenue Mariscal Sucre, 170129, Quito, Ecuador.
3
Departamento de Patología, Hospital Oncológico Solon Espinosa Ayala, Avenue Eloy Alfaro, 170138, Quito, Ecuador.
4
Hospital General Docente de Calderón, Ministerio de Salud Pública del Ecuador, Avenue Capitán Giovanni Calles, 170206, Quito, Ecuador.
5
Facultad de Ciencias de la Salud, Universidad de las Américas, Avenue de los Granados, 170125, Quito, Ecuador.
6
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Avenue Mariscal Sucre, 170129, Quito, Ecuador. cesar.pazymino@ute.edu.ec.

Abstract

Breast cancer (BC) is the leading cause of cancer related death among women in 2014. The AURKA gene that encodes the protein called Aurora kinase A plays an important role in the progression of the cell cycle, by controlling and promoting the entry into the phase of mitosis. The single nucleotide polymorphism AURKA T91A (rs2273535) (Phe21Ile) has been identified as functional alternator of this kinase, the Ile allele is associated with the occurrence of chromosome segregation errors and tumor progression. Therefore, it is essential to know how BC risk is associated with histopathological characteristics, immunohistochemical characteristics, and genotype polymorphism in a high altitude Ecuadorian mestizo population. In this retrospective case-control study 200 individuals were analyzed. DNA was extracted from 100 healthy and 100 affected women. Genotypes were determined by genomic sequencing. We found significant association between the AURKA T91A (rs2273535) (Phe21Ile) genotype and an increased risk of BC development: Phe/Ile (odds ratio [OR] = 2.6; 95% confidence interval [CI] = 1.4-4.9; P = 0.004), Ile/Ile (OR = 3.8; 95% CI = 1.6-9.0; P = 0.002), and Phe/Ile + Ile/Ile (OR = 2.9; 95% CI = 1.6-5.2; P = 0.001). Additionally, the rs2273535 variant was associated with the tumor grade SBR III (OR = 9.6; 95% CI = 1.0-91.9; P = 0.048) and the Ki-67 ≥ 20 (OR = 16.5; 95% CI = 2.7-101.3; P = 0.002). In brief, this study provides the first evidence where the Ile allele of the AURKA gene could act as potentially predictive biomarker of BC in the high altitude Ecuadorian mestizo population that lives at 2800 m above sea level (masl).

KEYWORDS:

AURKA; Breast cancer; Ecuadorian population; Genotyping; High altitude; Mestizo

PMID:
28647900
DOI:
10.1007/s12253-017-0267-6
[Indexed for MEDLINE]

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