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GWAS identifies a common breast cancer risk allele among BRCA1 carriers

A genome-wide association study conducted among women with deleterious BRCA1 mutations has identified a common allele associated with breast cancer risk in BRCA1 carriers and estrogen receptor–negative breast cancer in the general population. This suggests that genetic association studies focused on particular subtypes may provide further insight into complex diseases.

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Figure 1: Oversampling a specific disease subtype can greatly increase power in GWAS.

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Correspondence to Peter Kraft.

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Kraft, P., Haiman, C. GWAS identifies a common breast cancer risk allele among BRCA1 carriers. Nat Genet 42, 819–820 (2010). https://doi.org/10.1038/ng1010-819

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