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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 PublicationInternational Journal of Cancer
ISSN0020-7136
Volume152Issue: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.

KeywordAsian Brca1 Brca2 Cancer Database Evolution Germline Variation Population Structure Variation
DOI10.1002/ijc.34359
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaOncology
WOS SubjectOncology
WOS IDWOS:000892605000001
PublisherWILEY, 111 RIVER ST, HOBOKEN 07030-5774, NJ
Scopus ID2-s2.0-85143210557
Fulltext Access
Citation statistics
Document TypeJournal article
CollectionMinistry 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 AuthorWang, San Ming
AffiliationMinistry 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 AffilicationCancer Centre
Corresponding Author AffilicationCancer 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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