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Title: A comprehensive examination of breast cancer risk loci in African American women.
Authors: Feng Y,  Stram DO,  Rhie SK,  Millikan RC,  Ambrosone CB,  John EM,  Bernstein L,  Zheng W,  Olshan AF,  Hu JJ,  Ziegler RG,  Nyante S,  Bandera EV,  Ingles SA,  Press MF,  Deming SL,  Rodriguez-Gil JL,  Palmer JR,  Olopade OI,  Huo D,  Adebamowo CA,  Ogundiran T,  Chen GK,  Stram A,  Park K,  Rand KA,  Chanock SJ,  Le Marchand L,  Kolonel LN,  Conti DV,  Easton D,  Henderson BE,  Haiman CA
Journal: Hum Mol Genet
Date: 2014 Oct 15
Branches: EBP, HREB, LTG, OD
PubMed ID: 24852375
PMC ID: PMC4168823
Abstract: 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.