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Hum Mol Genet. 2014 Oct 15;23(20):5518-26. doi: 10.1093/hmg/ddu252. Epub 2014 May 22.

A comprehensive examination of breast cancer risk loci in African American women.

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Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center and.
Department of Epidemiology, Gillings School of Global Public Health, and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA.
Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY, USA.
Cancer Prevention Institute of California, Fremont, CA, USA Division of Epidemiology, Department of Health Research & Policy, and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
Division of Cancer Etiology, Department of Population Science, Beckman Research Institute, City of Hope, Duarte, CA, USA.
Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Sylvester Comprehensive Cancer Center and Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Miami, FL, USA.
Epidemiology and Biostatistics Program, Division of Cancer Epidemiology and Genetics and.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Department of Pathology, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Slone Epidemiology Center at Boston University, Boston, MA, USA.
Center for Clinical Cancer Genetics & Global Health, Department of Medicine and.
Department of Health Studies, University of Chicago, Chicago, IL, USA.
Department of Epidemiology & Preventive Medicine, University of Maryland, Baltimore, MD, USA.
Department of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center and


Genome-wide association studies have identified 73 breast cancer risk variants mainly in European populations. Given considerable differences in linkage disequilibrium structure between populations of European and African ancestry, the known risk variants may not be informative for risk in African ancestry populations. In a previous fine-mapping investigation of 19 breast cancer loci, we were able to identify SNPs in four regions that better captured risk associations in African American women. In this study of breast cancer in African American women (3016 cases, 2745 controls), we tested an additional 54 novel breast cancer risk variants. Thirty-eight variants (70%) were found to have an association with breast cancer in the same direction as previously reported, with eight (15%) replicating at P < 0.05. Through fine-mapping, in three regions (1q32, 3p24, 10q25), we identified variants that better captured associations with overall breast cancer or estrogen receptor positive disease. We also observed suggestive associations with variants (at P < 5 × 10(-6)) in three separate regions (6q25, 14q13, 22q12) that may represent novel risk variants. Directional consistency of association observed for ∼65-70% of currently known genetic variants for breast cancer in women of African ancestry implies a shared functional common variant at most loci. To validate and enhance the spectrum of alleles that define associations at the known breast cancer risk loci, as well as genome-wide, will require even larger collaborative efforts in women of African ancestry.

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