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Breast cancer risk and genetic ancestry: a case-control study in Uruguay

BACKGROUND: Uruguay exhibits one of the highest rates of breast cancer in Latin America, similar to those of developed nations, the reasons for which are not completely understood. In this study we investigated the effect that ancestral background has on breast cancer susceptibility among Uruguayan women. METHODS: We carried out a case-control study of 328 (164 cases, 164 controls) women enrolled in public hospitals and private clinics across the country. We estimated ancestral proportions using a panel of nuclear and mitochondrial ancestry informative markers (AIMs) and tested their association with breast cancer risk. RESULTS: Nuclear individual ancestry in cases was (mean ± SD) 9.8 ± 7.6% African, 13.2 ± 10.2% Native American and 77.1 ± 13.1% European, and in controls 9.1 ± 7.5% African, 14.7 ± 11.2% Native American and 76.2 ± 14.2% European. There was no evidence of a difference in nuclear or mitochondrial ancestry between cases and controls. However, European mitochondrial haplogroup H was associated with breast cancer (OR = 2.0; 95% CI 1.1, 3.5). CONCLUSIONS: We have not found evidence that overall genetic ancestry differs between breast cancer patients and controls in Uruguay but we detected an association of the disease with a European mitochondrial lineage, which warrants further investigation.

Identiferoai:union.ndltd.org:arizona.edu/oai:arizona.openrepository.com:10150/610306
Date January 2015
CreatorsBonilla, Carolina, Bertoni, Bernardo, Hidalgo, Pedro C., Artagaveytia, Nora, Ackermann, Elizabeth, Barreto, Isabel, Cancela, Paula, Cappetta, Mónica, Egaña, Ana, Figueiro, Gonzalo, Heinzen, Silvina, Hooker, Stanley, Román, Estela, Sans, Mónica, Kittles, Rick A.
ContributorsSchool of Social and Community Medicine, University of Bristol, Departamento de Genética, Facultad de Medicina, Universidad del la República, Polo de Desarrollo Universitario “Variabilidad Genética Humana”, Centro Universitario de Tacuarembó, Universidad de la República, Departamento Básico de Medicina, Hospital de Clínicas, Facultad de Medicina, Universidad de la República, Laboratorio de Oncología Básica y Biología Molecular (LOBBM), Facultad de Medicina, Universidad de la República, Departamento de Antropología Biológica, Instituto de Ciencias Antropológicas, Facultad de Humanidades y Ciencias de la Educación, Universidad de la República, Polo de Desarrollo Universitario “Centro de investigaciones interdisciplinarias sobre la presencia indígena misionera en el territorio: patrimonio, región y fronteras culturales”, Centro Universitario de Tacuarembó, Universidad de la República, Unidad Académica de la Licenciatura en Biología Humana, Centro Universitario de Paysandú, Universidad de la República, Section of Genetic Medicine, Department of Medicine, Pritzker School of Medicine, University of Chicago, Department of Molecular and Human Genetics, Baylor College of Medicine, Department of Medicine, Section of Hematology and Oncology, University of Illinois at Chicago, Center for Population Genetics, The University of Arizona College of Medicine
PublisherBioMed Central Ltd
Source SetsUniversity of Arizona
LanguageEnglish
Detected LanguageEnglish
TypeArticle
Rights© 2015 Bonilla et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)
Relationhttp://www.biomedcentral.com/1472-6874/15/11

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