Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
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 populatio...
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doaj-f730e66d294c40ec95db11916b8c82982020-11-25T04:06:41ZengMDPI AGGenes2073-44252020-10-01111272127210.3390/genes11111272Genomic Diversity in Sporadic Breast Cancer in a Latin American PopulationLucía Brignoni0Mónica Cappetta1Valentina Colistro2Mónica Sans3Nora Artagaveytia4Carolina Bonilla5Bernardo Bertoni6Departamento de Genética, Facultad de Medicina, Universidad de la República, Paysandú 60000, UruguayDepartamento de Genética, Facultad de Medicina, Universidad de la República, Paysandú 60000, UruguayDepartamento de Métodos Cuantitativos, Facultad de Medicina, Universidad de la República, Paysandú 60000, UruguayDepartamento de Antropología Biológica, Facultad de Humanidades y Ciencias, Universidad de la República, Paysandú 60000, UruguayDepartamento Básico de Medicina, Facultad de Medicina, Universidad de la República, Paysandú 60000, UruguayDepartamento de Medicina Preventiva, Faculdade de Medicina, Universidade de São Paulo, São Paulo SP 01246-903, BrazilDepartamento de Genética, Facultad de Medicina, Universidad de la República, Paysandú 60000, UruguayAmong 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 (<i>ESR1</i>), rs16886165 (<i>MAP3K1</i>), rs2214681 (<i>CNTNAP2</i>), rs4237855 (<i>VDR</i>), rs9594579 (<i>RANKL</i>), rs8183919 (<i>PTGIS</i>), rs2981582 (<i>FGFR2</i>), and rs1799950 (<i>BRCA1</i>) 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.https://www.mdpi.com/2073-4425/11/11/1272breast cancerpopulation geneticsLatin America |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Lucía Brignoni Mónica Cappetta Valentina Colistro Mónica Sans Nora Artagaveytia Carolina Bonilla Bernardo Bertoni |
spellingShingle |
Lucía Brignoni Mónica Cappetta Valentina Colistro Mónica Sans Nora Artagaveytia Carolina Bonilla Bernardo Bertoni Genomic Diversity in Sporadic Breast Cancer in a Latin American Population Genes breast cancer population genetics Latin America |
author_facet |
Lucía Brignoni Mónica Cappetta Valentina Colistro Mónica Sans Nora Artagaveytia Carolina Bonilla Bernardo Bertoni |
author_sort |
Lucía Brignoni |
title |
Genomic Diversity in Sporadic Breast Cancer in a Latin American Population |
title_short |
Genomic Diversity in Sporadic Breast Cancer in a Latin American Population |
title_full |
Genomic Diversity in Sporadic Breast Cancer in a Latin American Population |
title_fullStr |
Genomic Diversity in Sporadic Breast Cancer in a Latin American Population |
title_full_unstemmed |
Genomic Diversity in Sporadic Breast Cancer in a Latin American Population |
title_sort |
genomic diversity in sporadic breast cancer in a latin american population |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2020-10-01 |
description |
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 (<i>ESR1</i>), rs16886165 (<i>MAP3K1</i>), rs2214681 (<i>CNTNAP2</i>), rs4237855 (<i>VDR</i>), rs9594579 (<i>RANKL</i>), rs8183919 (<i>PTGIS</i>), rs2981582 (<i>FGFR2</i>), and rs1799950 (<i>BRCA1</i>) 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. |
topic |
breast cancer population genetics Latin America |
url |
https://www.mdpi.com/2073-4425/11/11/1272 |
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