title: Breast cancer risk and genetic ancestry: a case-control study in Uruguay.
abstract: 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.
authors.affiliation: School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK, C.Bonilla@bristol.ac.uk.
authors.forename: Carolina
authors.initials: C
authors.lastname: Bonilla
authors.forename: Bernardo
authors.initials: B
authors.lastname: Bertoni
authors.forename: Pedro C
authors.initials: PC
authors.lastname: Hidalgo
authors.forename: Nora
authors.initials: N
authors.lastname: Artagaveytia
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ackermann
authors.forename: Isabel
authors.initials: I
authors.lastname: Barreto
authors.forename: Paula
authors.initials: P
authors.lastname: Cancela
authors.forename: Mónica
authors.initials: M
authors.lastname: Cappetta
authors.forename: Ana
authors.initials: A
authors.lastname: Egaña
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Figueiro
authors.forename: Silvina
authors.initials: S
authors.lastname: Heinzen
authors.forename: Stanley
authors.initials: S
authors.lastname: Hooker
authors.forename: Estela
authors.initials: E
authors.lastname: Román
authors.forename: Mónica
authors.initials: M
authors.lastname: Sans
authors.forename: Rick A
authors.initials: RA
authors.lastname: Kittles
mesh_terms: D000328:Adult; D000368:Aged; D044467:American Indian or Alaska Native / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D014583:Uruguay; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA