A genome-wide association study of breast cancer in women of African ancestry

Fang Chen, Gary K. Chen, Daniel O. Stram, Robert C. Millikan, Christine B. Ambrosone, Esther M. John, Leslie Bernstein, Wei Zheng, Julie R. Palmer, Jennifer J. Hu, Tim R. Rebbeck, Regina G. Ziegler, Sarah Nyante, Elisa V. Bandera, Sue A. Ingles, Michael F. Press, Edward A. Ruiz-Narvaez, Sandra L. Deming, Jorge L. Rodriguez-Gil, Angela DemicheleStephen J. Chanock, William Blot, Lisa Signorello, Qiuyin Cai, Guoliang Li, Jirong Long, Dezheng Huo, Yonglan Zheng, Nancy J. Cox, Olufunmilayo I. Olopade, Temidayo O. Ogundiran, Clement Adebamowo, Katherine L. Nathanson, Susan M. Domchek, Michael S. Simon, Anselm Hennis, Barbara Nemesure, Suh Yuh Wu, M. Cristina Leske, Stefan Ambs, Carolyn M. Hutter, Alicia Young, Charles Kooperberg, Ulrike Peters, Suhn K. Rhie, Peggy Wan, Xin Sheng, Loreall C. Pooler, David J. Van Den Berg, Loic Le Marchand, Laurence N. Kolonel, Brian E. Henderson, Christopher A. Haiman

Research output: Contribution to journalArticlepeer-review

62 Scopus citations


Genome-wide association studies (GWAS) in diverse populations are needed to reveal variants that are more common and/or limited to defined populations. We conducted a GWAS of breast cancer in women of African ancestry, with genotyping of >1,000,000 SNPs in 3,153 African American cases and 2,831 controls, and replication testing of the top 66 associations in an additional 3,607 breast cancer cases and 11,330 controls of African ancestry. Two of the 66 SNPs replicated (p < 0.05) in stage 2, which reached statistical significance levels of 10-6 and 10-5 in the stage 1 and 2 combined analysis (rs4322600 at chromosome 14q31: OR = 1.18, p = 4.3 × 10 -6; rs10510333 at chromosome 3p26: OR = 1.15, p = 1.5 × 10 -5). These suggestive risk loci have not been identified in previous GWAS in other populations and will need to be examined in additional samples. Identification of novel risk variants for breast cancer in women of African ancestry will demand testing of a substantially larger set of markers from stage 1 in a larger replication sample.

Original languageEnglish (US)
Pages (from-to)39-48
Number of pages10
JournalHuman Genetics
Issue number1
StatePublished - Jan 2013

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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