Genetic and cellular architecture of breast cancer risk across ancestries
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ID: 330057
2026
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Abstract
BACKGROUND: Breast cancer genome-wide association studies (GWAS) have identified more than 200 susceptibility loci, but most studies are dominated by European and East Asian populations. METHODS: We analyzed breast cancer GWAS summary statistics from African (AFR), East Asian (EAS), European (EUR), and Hispanic/Latina (H/L) samples (159,297 cases and 212,102 controls). We estimated logit-scale SNP-based heritability, polygenicity, and cross-ancestry genetic correlation, partitioned heritability across functional annotations, and integrated GWAS results with the Tabula Sapiens single-cell atlas using scDRS+. RESULTS: The logit-scale heritability of breast cancer ranged from h2=0.47 (SE = 0.07) in EAS to AFR h2=0.61 (SE = 0.10), with no significant differences across ancestries (p = 0.63). The model-implied number of non-null susceptibility SNPs in the sparse normal-mixture effect-size model also varied from 4,446 (SE = 3,100) in EAS to 8,308 (SE = 2,751) in AFR, but differences were not significant across ancestries (p = 0.55). Cross-sample genetic correlations varied, with the strongest correlation between EUR and EAS (ρ=0.79, SE = 0.08) and weakest between AFR and H/L (ρ=0.26, SE = 0.24). Regulatory annotations were enriched for breast cancer heritability across samples. Integration with single-cell expression profiles implicated ancestry-shared associations with innate immune, secretory epithelial, and stromal cell types. CONCLUSION: These results indicate substantial cross-ancestry sharing of breast cancer polygenic architecture, highlight a consistent contribution of regulatory variation, and identify convergent cellular contexts that motivate functional follow-up and inform expectations for the transferability and attainable performance of common-variant risk prediction across populations.
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| Authors | James Li, Maria Zanti, Jacob Williams, Om Jahagirdar, Guochong Jia, Alistair Turcan, Qiang Hu, Jean‐Tristan Brandenburg, Yàn Li, Weang-Kee Ho, Jingmei Li, Patricio Miranda, Devika Godbole, Julie‐Alexia Dias, Xiaomeng Zhang, Leila Dorling, Wenlong Carl Chen, Nicholas James Boddicker, Ying Wang, Alicia R. Martin, Yan Zhang, Joe Dennis, Esther M. John, Gabriela Torres-Mejı́a, Lawrence H Kushi, Jeffrey N. Weitzel, Susan L. Neuhausen, Luis G. Carvajal‐Carmona, Christopher A. Haiman, Elad Ziv, Laura Fejerman, Wei Zheng, Dezheng Huo, Douglas F. Easton, Stephen Jacob Chanock, Nilanjan Chatterjee, Peter Kraft, Montserrat García‐Closas, Wendy S W Wong, Kyriaki Michailidou, Qianqian Zhu, Martin Jinye Zhang, Diptavo Dutta, Thomas U. Ahearn, Haoyu Zhang |
| Journal | jnci cancer spectrum |
| Year | 2026 |
| DOI |
10.1093/jncics/pkag101
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| URL | |
| Keywords | Keywords not found |
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