Abstract
Genome-wide association studies (GWAS) have identified common variants associated with breast cancer risk among women of European and Asian ancestries. To assess the generalizability across ethnic/racial populations of a risk score derived from genotyping 12 highly replicated breast cancer GWAS hits, we performed a case-control study (2224 cases and 2827 controls) nested in the Multiethnic Cohort (MEC) study, which was initiated in 1993–1996 and consists of subjects mainly from European-American, African-American, Native Hawaiian, Japanese and Latino populations. When viewed as a summary risk score, the total number of risk alleles carried by women was significantly associated with breast cancer risk overall (OR per allele, 1.09; 95% CI, 1.06–1.12; P=2.0 × 10−10) and in all populations except African-Americans, in which no significant association was observed (OR, 1.03; 95% CI, 0.98–1.08). In aggregate, the number of risk alleles is strongly associated with breast cancer risk in all populations studied except African-Americans. These results emphasize the need for large-scale association studies of multiple racial/ethnic groups for discovery and characterization of risk alleles relevant to all populations in the United States.
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Acknowledgements
This study is funded by grants from the National Institute of Health (CA63464, CA54281, CA098758 and CA132839) and the California Breast Cancer Research program (15UB-8402).
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Chen, F., Stram, D., Le Marchand, L. et al. Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations. Eur J Hum Genet 19, 243–245 (2011). https://doi.org/10.1038/ejhg.2010.185
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DOI: https://doi.org/10.1038/ejhg.2010.185
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