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

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Title: Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25
Authors: Fejerman, Laura
Ahmadiyeh, Nasim
Hu, Donglei
Huntsman, Scott
Beckman, Kenneth B.
show 22 moreCaswell, Jennifer L.
Tsung, Karen
John, Esther M.
Torres-Mejia, Gabriela
Carvajal-Carmona, Luis
Echeverry, Maria Magdalena
Tuazon, Anna Marie D.
Ramirez, Carolina
COLUMBUS Consortium
Gignoux, Christopher R.
Eng, Celeste
Gonzalez-Burchard, Esteban
Henderson, Brian
Le Marchand, Loic
Kooperberg, Charles
Hou, Lifang
Agalliu, Ilir
Kraft, Peter
Lindstrom, Sara
Perez-Stable, Eliseo J.
Haiman, Christopher A.
Ziv, Elad

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Issue Date: Oct 2014
Publisher: Nature Communications
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Abstract: 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 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.
Pages/Duration: 8
DOI: 10.1038/ncomms6260
Appears in Collections:University of Hawaii Cancer Center / Cancer Research Center Faculty & Researcher Works

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