https://scholars.lib.ntu.edu.tw/handle/123456789/636974
Title: | The largest genome-wide association study for breast cancer in Taiwanese Han population | Authors: | Hsu, Yu Ching Chen, Hung Lin Cheng, Chi Fung Chattopadhyay, Amrita Chen, Pei Shan Lin, Che Chen Chiang, Hsiu Yin Liu, Ting Yuan Huang, Chi Hao Kuo, Chin Chi ERIC YAO-YU CHUANG TZU-PIN LU Tsai, Fuu Jen |
Keywords: | Breast cancer | Genome-wide association study | Polygenic risk score | Taiwanese population | Issue Date: | 1-Jan-2024 | Journal Volume: | 203 | Journal Issue: | 2 | Start page/Pages: | 291-306 | Source: | Breast Cancer Research and Treatment | Abstract: | Purpose: Breast cancer is a molecularly heterogeneous disease, and multiple genetic variants contribute to its development and prognosis. Most of previous genome-wide association studies (GWASs) and polygenic risk scores (PRSs) analyses focused on studying breast cancers of Caucasian populations, which may not be applicable to other population. Therefore, we conducted the largest breast cancer cohort of Taiwanese population to fill in the knowledge gap. Methods: A total of 152,534 Participants recruited by China Medical University Hospital between 2003 and 2019 were filtered by several patient selection criteria and GWAS quality control steps, resulting in the inclusion of 2496 cases and 9984 controls for this study. We then conducted GWAS for all breast cancers and PRS analyses for all breast cancers and the four breast cancer subtypes, including luminal A, luminal B, basal-like, and HER2-enriched. Results: The GWAS analyses identified 113 SNPs, 50 of which were novel. The PRS models for all breast cancers and the luminal A subtype showed positively correlated trends between the PRS and the risk of developing breast cancer. The odds ratios (95% confidence intervals) for the groups with the highest PRS in all breast cancers and the luminal A subtype were 5.33 (3.79–7.66) and 3.55 (2.13–6.14), respectively. Conclusion: In summary, we explored the association of genetic variants with breast cancer in the largest Taiwanese cohort and developed two PRS models that can predict the risk of developing any breast cancer and the luminal A subtype in Taiwanese women. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636974 | ISSN: | 01676806 | DOI: | 10.1007/s10549-023-07133-5 |
Appears in Collections: | 生醫電子與資訊學研究所 |
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