Residential College | false |
Status | 已發表Published |
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population | |
Qin, Zixin; Li, Jiaheng; Tam, Benjamin; Sinha, Siddharth; Zhao, Bojin; Bhaskaran, Shanmuga Priya; Huang, Teng; Wu, Xiaobing; Chian, Jia Sheng; Guo, Maoni; Kou, Si Hoi; Lei, Huijun; Zhang, Li; Wang, Xiaoyu; Lagniton, Philip Naderev P.; Xiao, Fengxia; Jiang, Xinyang; Wang, San Ming | |
2022-11-17 | |
Source Publication | International Journal of Cancer |
ISSN | 0020-7136 |
Volume | 152Issue:6Pages:1159-1173 |
Abstract | Pathogenic variation in BRCA1 and BRCA2 (BRCA) causes high risk of breast and ovarian cancer, and BRCA variation data are important markers for BRCA-related clinical cancer applications. However, comprehensive BRCA variation data are lacking from the Asian population despite its large population size, heterogenous genetic background and diversified living environment across the Asia continent. We performed a systematic study on BRCA variation in Asian population including extensive data mining, standardization, annotation and characterization. We identified 7587 BRCA variants from 685 592 Asian individuals in 40 Asia countries and regions, including 1762 clinically actionable pathogenic variants and 4915 functionally unknown variants (https://genemutation.fhs.um.edu.mo/Asian-BRCA/). We observed the highly ethnic-specific nature of Asian BRCA variants between Asian and non-Asian populations and within Asian populations, highlighting that the current European descendant population-based BRCA data is inadequate to reflect BRCA variation in the Asian population. We also provided archeological evidence for the evolutionary origin and arising time of Asian BRCA variation. We further provided structural-based evidence for the deleterious variants enriched within the functionally unknown Asian BRCA variants. The data from our study provide a current view of BRCA variation in the Asian population and a rich resource to guide clinical applications of BRCA-related cancer for the Asian population. |
Keyword | Asian Brca1 Brca2 Cancer Database Evolution Germline Variation Population Structure Variation |
DOI | 10.1002/ijc.34359 |
URL | View the original |
Indexed By | SCIE |
Language | 英語English |
WOS Research Area | Oncology |
WOS Subject | Oncology |
WOS ID | WOS:000892605000001 |
Publisher | WILEY, 111 RIVER ST, HOBOKEN 07030-5774, NJ |
Scopus ID | 2-s2.0-85143210557 |
Fulltext Access | |
Citation statistics | |
Document Type | Journal article |
Collection | Ministry of Education Frontiers Science Center for Precision Oncology, University of Macau Faculty of Health Sciences Cancer Centre Institute of Translational Medicine DEPARTMENT OF PUBLIC HEALTH AND MEDICINAL ADMINISTRATION |
Corresponding Author | Wang, San Ming |
Affiliation | Ministry of Education Frontiers Science Center for Precision Oncology, Cancer Centre and Institute of Translational Medicine, Department of Public Health and Medical Administration, Faculty of Health Sciences, University of Macau, Macao |
First Author Affilication | Cancer Centre |
Corresponding Author Affilication | Cancer Centre |
Recommended Citation GB/T 7714 | Qin, Zixin,Li, Jiaheng,Tam, Benjamin,et al. Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population[J]. International Journal of Cancer, 2022, 152(6), 1159-1173. |
APA | Qin, Zixin., Li, Jiaheng., Tam, Benjamin., Sinha, Siddharth., Zhao, Bojin., Bhaskaran, Shanmuga Priya., Huang, Teng., Wu, Xiaobing., Chian, Jia Sheng., Guo, Maoni., Kou, Si Hoi., Lei, Huijun., Zhang, Li., Wang, Xiaoyu., Lagniton, Philip Naderev P.., Xiao, Fengxia., Jiang, Xinyang., & Wang, San Ming (2022). Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population. International Journal of Cancer, 152(6), 1159-1173. |
MLA | Qin, Zixin,et al."Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population".International Journal of Cancer 152.6(2022):1159-1173. |
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