Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

• Main Authors: Lucía Brignoni, Mónica Cappetta, Valentina Colistro, Mónica Sans, Nora Artagaveytia, Carolina Bonilla, Bernardo Bertoni
• Format: Article
• Language: English
• Published: MDPI AG 2020-10-01
• Series: Genes
• Subjects: breast cancer; population genetics; Latin America
• Online Access: https://www.mdpi.com/2073-4425/11/11/1272

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.