@article{34cf1cae619144319a246a0c8421faa6,
title = "Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans",
abstract = "Genome-wide association studies (GWAS) have revealed 19 common genetic variants that are associated with breast cancer risk. Testing of the index signals found through GWAS and fine-mapping of each locus in diverse populations will be necessary for characterizing the role of these risk regions in contributing to inherited susceptibility. In this large study of breast cancer in African-American women (3016 cases and 2745 controls), we tested the 19 known risk variants identified by GWAS and replicated associations (P < 0.05) with only 4 variants. Through fine-mapping, we identified markers in four regions that better capture the association with breast cancer risk in African Americans as defined by the index signal (2q35, 5q11, 10q26 and 19p13). We also identified statistically significant associations with markers in four separate regions (8q24, 10q22, 11q13 and 16q12) that are independent of the index signals and may represent putative novel risk variants. In aggregate, the more informative markers found in the study enhance the association of these risk regions with breast cancer in African Americans [per allele odds ratio (OR) = 1.18, P = 2.8 × 10-24 versus OR = 1.04, P = 6.1 × 10-5]. In this detailed analysis of the known breast cancer risk loci, we have validated and improved upon markers of risk that better characterize their association with breast cancer in women of African ancestry.",
author = "Fang Chen and Chen, {Gary K.} and Millikan, {Robert C.} and John, {Esther M.} and Ambrosone, {Christine B.} and Leslie Bernstein and Wei Zheng and Hu, {Jennifer J.} and Ziegler, {Regina G.} and Deming, {Sandra L.} and Bandera, {Elisa V.} and Sarah Nyante and Palmer, {Julie R.} and Rebbeck, {Timothy R.} and Ingles, {Sue A.} and Press, {Michael F.} and Rodriguez-Gil, {Jorge L.} and Chanock, {Stephen J.} and {Le Marchand}, Lo{\"i}c and Kolonel, {Laurence N.} and Henderson, {Brian E.} and Stram, {Daniel O.} and Haiman, {Christopher A.}",
note = "Funding Information: This work was supported by a Department of Defense Breast Cancer Research Program Era of Hope Scholar Award to C.A.H. (W81XWH-08-1-0383), a National Institute of Health grant to C.A.H. (R01-CA132839), the Norris Foundation, and a grant from the California Breast Cancer Research Program to D.O.S. (15UB-8402). Each of the participating studies was supported by the following grants: MEC: by National Institutes of Health (R01-CA63464 and R37-CA54281); CARE: by National Institute for Child Health and Development (NO1-HD-3-3175), WCHS: by US Army Medical Research and Material Command (USAMRMC) (DAMD-17-01-0-0334); the National Institutes of Health (R01-CA100598); and the Breast Cancer Research Foundation; SFBCS: by National Institutes of Health (R01-CA77305) and United States Army Medical Research Program (DAMD17-96-6071); NC-BCFR: by National Institutes of Health (U01-CA69417); CBCS: by National Institutes of Health Specialized Program of Research Excellence in Breast Cancer (P50-CA58223) and Center for Environmental Health and Susceptibility, National Institute of Environmental Health Sciences, National Institutes of Health (P30-ES10126); PLCO: by Intramural Research Program, National Cancer Institute, National Institutes of Health; NBHS: by National Institutes of Health (R01-CA100374); WFBC: by National Institutes of Health (R01-CA73629). The Breast Cancer Family Registry (BCFR) was supported by the National Cancer Institute, National Institutes of Health under (RFA CA-95-011) and through cooperative agreements with members of the Breast Cancer Family Registry and Principal Investigators.",
year = "2011",
month = nov,
doi = "10.1093/hmg/ddr367",
language = "English (US)",
volume = "20",
pages = "4491--4503",
journal = "Human molecular genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "22",
}