Jia, Guochong and Ping, Jie and Shu, Xiang and Yang, Yaohua and Cai, Qiuyin and Kweon, Sun-Seog and Choi, Ji-Yeob and Kubo, Michiaki and Park, Sue K. and Bolla, Manjeet K. and Dennis, Joe and Wang, Qin and Guo, Xingyi and Li, Bingshan and Tao, Ran and Aronson, Kristan J. and Chan, Tsun L. and Gao, Yu-Tang and Hartman, Mikael and Ho, Weang Kee and Ito, Hidemi and Iwasaki, Motoki and Iwata, Hiroji and John, Esther M. and Kasuga, Yoshio and Kim, Mi-Kyung and Kurian, Allison W. and Kwong, Ava and Li, Jingmei and Lophatananon, Artitaya and Low, Siew-Kee and Mariapun, Shivaani and Matsuda, Koichi and Matsuo, Keitaro and Muir, Kenneth and Noh, Dong-Young and Park, Boyoung and Park, Min-Ho and Shen, Chen-Yang and Shin, Min-Ho and Spinelli, John J. and Takahashi, Atsushi and Tseng, Chiuchen and Tsugane, Shoichiro and Wu, Anna H. and Yamaji, Taiki and Zheng, Ying and Dunning, Alison M. and Pharoah, Paul D. P. and Teo, Soo-Hwang and Kang, Daehee and Easton, Douglas F. and Simard, Jacques and Shu, Xiao-ou and Long, Jirong and Zheng, Wei (2022) Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics. AMERICAN JOURNAL OF HUMAN GENETICS, 109 (12). pp. 2185-2195. ISSN 1537-6605, DOI https://doi.org/10.1016/j.ajhg.2022.10.011.
Full text not available from this repository.Abstract
By combining data from 160,500 individuals with breast cancer and 226,196 controls of Asian and European ancestry, we conducted genome-and transcriptome-wide association studies of breast cancer. We identified 222 genetic risk loci and 137 genes that were asso-ciated with breast cancer risk at a p < 5.0 3 10-8 and a Bonferroni-corrected p < 4.6 3 10-6, respectively. Of them, 32 loci and 15 genes showed a significantly different association between ER-positive and ER-negative breast cancer after Bonferroni correction. Significant ancestral differences in risk variant allele frequencies and their association strengths with breast cancer risk were identified. Of the sig-nificant associations identified in this study, 17 loci and 14 genes are located 1Mb away from any of the previously reported breast cancer risk variants. Pathways analyses including 221 putative risk genes identified multiple signaling pathways that may play a significant role in the development of breast cancer. Our study provides a comprehensive understanding of and new biological insights into the genetics of this common malignancy.
| Item Type: | Article |
|---|---|
| Funders: | United States Department of Health & Human Services National Institutes of Health (NIH) - USA, United States Department of Defense, Ingram Professor and Anne Potter Wilson Chair and Research Reward funds, Vanderbilt-Ingram Cancer Center, Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (KAKENHI) |
| Uncontrolled Keywords: | SUSCEPTIBILITY LOCI; RISK; TUMORIGENESIS |
| Subjects: | R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) |
| Divisions: | Faculty of Medicine > Surgery Department |
| Depositing User: | Ms Koh Ai Peng |
| Date Deposited: | 06 Nov 2024 08:30 |
| Last Modified: | 06 Nov 2024 08:30 |
| URI: | http://eprints.um.edu.my/id/eprint/46131 |
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