Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25

Laura Fejerman, Nasim Ahmadiyeh, Donglei Hu, Scott Huntsman, Kenneth B. Beckman, Jennifer L. Caswell, Karen Tsung, Esther M. John, Gabriela Torres-Mejia, Luis Carvajal-Carmona, María Magdalena Echeverry, Anna Marie D. Tuazon, Carolina Ramirez, Mabel Elena Bohórquez, Rodrigo Prieto, Ángel Criollo, Carolina Ramírez, Ana Patricia Estrada, John Jairo Suáres, Gilbert MateusJorge Mario Castro, Yesid Sánchez, Raúl Murillo, Martha Lucia Serrano, Carolina Sanabria, Justo Germán Olaya, Alejandro Vélez, Jenny Andrea Carmona, Nancy Guerrero Rodríguez, Cristina Serón Sousa, Cesar Eduardo Alvarez Mendez, Ana Isabel Orduz Galviz, Christopher R. Gignoux, Celeste Eng, Esteban Gonzalez-Burchard, Brian Henderson, Loic Le Marchand, Charles Kooperberg, Lifang Hou, Ilir Agalliu, Peter Kraft, Sara Lindström, Eliseo J. Perez-Stable, Christopher A. Haiman*, Elad Ziv

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

95 Scopus citations


The genetic contributions to breast cancer development among Latinas are not well understood. Here we carry out a genome-wide association study of breast cancer in Latinas and identify a genome-wide significant risk variant, located 5′ of the Estrogen Receptor 1 gene (ESR1; 6q25 region). The minor allele for this variant is strongly protective (rs140068132: odds ratio (OR) 0.60, 95% confidence interval (CI) 0.53-0.67, P=9 × 10-18), originates from Indigenous Americans and is uncorrelated with previously reported risk variants at 6q25. The association is stronger for oestrogen receptor-negative disease (OR 0.34, 95% CI 0.21-0.54) than oestrogen receptor-positive disease (OR 0.63, 95% CI 0.49-0.80; P heterogeneity=0.01) and is also associated with mammographic breast density, a strong risk factor for breast cancer (P=0.001). rs140068132 is located within several transcription factor-binding sites and electrophoretic mobility shift assays with MCF-7 nuclear protein demonstrate differential binding of the G/A alleles at this locus. These results highlight the importance of conducting research in diverse populations.

Original languageEnglish (US)
Article number5260
JournalNature communications
StatePublished - Oct 20 2014

ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)


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