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

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dc.contributor.authorFejerman, Laura
dc.contributor.authorAhmadiyeh, Nasim
dc.contributor.authorHu, Donglei
dc.contributor.authorHuntsman, Scott
dc.contributor.authorBeckman, Kenneth B.
dc.contributor.authorCaswell, Jennifer L.
dc.contributor.authorTsung, Karen
dc.contributor.authorJohn, Esther M.
dc.contributor.authorTorres-Mejia, Gabriela
dc.contributor.authorCarvajal-Carmona, Luis
dc.contributor.authorEcheverry, Maria Magdalena
dc.contributor.authorTuazon, Anna Marie D.
dc.contributor.authorRamirez, Carolina
dc.contributor.authorCOLUMBUS Consortium
dc.contributor.authorGignoux, Christopher R.
dc.contributor.authorEng, Celeste
dc.contributor.authorGonzalez-Burchard, Esteban
dc.contributor.authorHenderson, Brian
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorKooperberg, Charles
dc.contributor.authorHou, Lifang
dc.contributor.authorAgalliu, Ilir
dc.contributor.authorKraft, Peter
dc.contributor.authorLindstrom, Sara
dc.contributor.authorPerez-Stable, Eliseo J.
dc.contributor.authorHaiman, Christopher A.
dc.contributor.authorZiv, Elad
dc.date.accessioned2016-03-03T00:10:53Z
dc.date.available2016-03-03T00:10:53Z
dc.date.issued2014-10
dc.description.abstractThe 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.
dc.format.extent8
dc.identifier.doi10.1038/ncomms6260
dc.identifier.urihttp://hdl.handle.net/10125/39583
dc.language.isoen-US
dc.publisherNature Communications
dc.relation.urihttp://www.nature.com/ncomms/2014/141020/ncomms6260/full/ncomms6260.html
dc.titleGenome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25
dc.typeArticle
dc.type.dcmiText

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