Genomic Diversity in Sporadic Breast Cancer in a Latin American Population.

Lucía Brignoni,Bernardo Bertoni,Mónica Sans,Valentina Colistro,Nora Artagaveytia,Carolina Bonilla,Mónica Cappetta

doi:10.3390/genes11111272

Lucía Brignoni, Bernardo Bertoni + Show 5 more

Open Access

https://doi.org/10.3390/genes11111272

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Abstract

Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.

Highlights

Breast cancer is the most common cancer among women in populations of European descent, representing 25% of all cancers [1]
Data was available for 118 single-nucleotide polymorphism (SNPs) in 172 cases and 160 controls
None of them remained significant after FDR correction, the association of SNPs in CNTNAP2 and VDR genes with the disease is supported by the randomized analysis

Summary

Introduction

Breast cancer is the most common cancer among women in populations of European descent, representing 25% of all cancers [1]. As in any complex disease, there are multiple genetic and environmental factors involved in its development. Risk factors, such as hormonal levels and lifestyle, have been reported as some of the most important [2]. A large proportion of heritability still needs to be explained by low-penetrance variants and, a major effort has been underway to identify single-nucleotide polymorphism (SNPs) associated with breast cancer risk. These SNPs are not very informative by themselves, but together may account for almost half of the familial relative risk

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