Fejerman, LauraAhmadiyeh, NasimHu, DongleiHuntsman, ScottBeckman, Kenneth B.Caswell, Jennifer L.Tsung, KarenJohn, Esther M.Torres-Mejia, GabrielaCarvajal-Carmona, LuisEcheverry, Maria MagdalenaTuazon, Anna Marie D.Ramirez, CarolinaCOLUMBUS ConsortiumGignoux, Christopher R.Eng, CelesteGonzalez-Burchard, EstebanHenderson, BrianLe Marchand, LoicKooperberg, CharlesHou, LifangAgalliu, IlirKraft, PeterLindstrom, SaraPerez-Stable, Eliseo J.Haiman, Christopher A.Ziv, Elad2016-03-032016-03-032014-10http://hdl.handle.net/10125/39583The 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 50 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 x 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.8en-USArticle10.1038/ncomms6260