Contents lists available at ScienceDirect Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/fsigss Molecular analysis of ancestry informative markers (AIMs-INDELs) in a high altitude Ecuadorian mestizo population affected with breast cancer A. López-Cortés a , G. Echeverría-Garcés b , G. Burgos c , A.K. Zambrano a , A. Cabrera-Andrade a , J.M. García-Cárdenas a , C. Salazar a , P.E. Leone a , C. Paz-y-Miño a, ⁎ a Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador b Laboratorio de Citogenética, Centro Especializado en Genética Médica (CEGEMED), Ministerio de Salud Pública, Quito, Ecuador c Facultad de Ciencias de la Salud, Universidad de las Américas, Quito, Ecuador ARTICLE INFO Keywords: Ancestry informative markers Breast cancer Ecuadorian population ABSTRACT Breast cancer (BC) is the leading cause of cancer-related death among women. BC is a heterogeneous disease differing in genomic complexity, key genetic alterations, and clinical prognosis. Given the description of the Ecuadorian population as multiethnic, made up of African, Native American, and European groups, this research is an initial evaluation of the potential benefits that would be obtained by generating a haplotype map of the Ecuadorian population to improve precision medicine. The aim was to estimate the original proportion of each inferred population and to determine the underlying population in women affected with BC. The ancestral proportion among Africans, Europeans, and Native Americans in Ecuadorian women was calculated through 45 ancestry informative markers (AIMs) and the comparison to the Human Genome Diversity Project panel. The resulting allele frequencies in affected women indicated prevalence of the Native American ancestral component with 60.58%, and minor proportion for the European and African components with 34.57% and 3.7%, re- spectively. These results suggest that the genetic variations expressing BC in Ecuadorian women could have been caused by the insertion of certain genetic characteristics of the Native American groups as consequence of ancestral migration towards South America. 1. Introduction BC in women represents a significant health problem that involves the progressive accumulation of environmental, hormonal, and genetic factors [1]. Worldwide, the areas with higher incidence of BC per each 100,000 inhabitants are Western Europe (89.9), Oceania (85.5), and Northern Europe (76.7) [2]. In Ecuador, the BC incidence rate has been increasing over the last years, reaching up to 32.7 in 2012 [3]. Large- scale efforts by The Cancer Genome Atlas (TCGA) have contributed comprehensive, multidimensional maps of the key genomic changes in BC [4]. These projects have generated information that contributes to the development of precision medicine by improving treatments with biological therapy. However, it is essential to genetically characterize populations worldwide. This is the first study that aims to estimate the biogeographic ancestry of high altitude Ecuadorian women healthy and affected with BC. 2. Materials and methods A total of 200 women who live 2800 m above sea level were ana- lyzed. Genomic DNA extraction of cases (n = 50) and controls (n = 150) was performed using the PureLink DNA Kit (Invitrogen). The DNA of cases, which presented an average concentration of 84 ng/μl, was extracted from ten sections (5 μm) of formalin-fixed paraffin-em- bedded breast tumor tissue. Meanwhile, the DNA of healthy women was extracted from peripheral blood samples and presented an average concentration of 135 ng/μl. Both concentrations were obtained using NanoDrop 2000 (Thermo Scientific). AIMs: 50 cases and 150 controls were genotyped by single multiplex PCR using 45 autosomal AIMs described by Pereira et al. [5]. Fluor- escent DNA fragments were separated and detected by capillary elec- trophoresis using Liz 600 and POP7 polymer in a ABI 3130 Genetic Analyzer (Applied Biosystems), and were identified using the software GeneMapper V3.2 following allele nomenclature previously described [5]. Statistical analysis: T-student test was performed to determine the http://dx.doi.org/10.1016/j.fsigss.2017.09.102 Received 23 August 2017; Accepted 18 September 2017 ⁎ Corresponding author at: Ave. Mariscal Sucre, 170527 Quito, Ecuador. E-mail address: cesar.pazymino@ute.edu.ec (C. Paz-y-Miño). Forensic Science International: Genetics Supplement Series 6 (2017) e231–e232 Available online 20 September 2017 1875-1768/ © 2017 Elsevier B.V. All rights reserved. T