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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Authors :
Qin Z
Li J
Tam B
Sinha S
Zhao B
Bhaskaran SP
Huang T
Wu X
Chian JS
Guo M
Kou SH
Lei H
Zhang L
Wang X
Lagniton PNP
Xiao F
Jiang X
Wang SM
Source :
International journal of cancer [Int J Cancer] 2023 Mar 15; Vol. 152 (6), pp. 1159-1173. Date of Electronic Publication: 2022 Nov 30.
Publication Year :
2023

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.<br /> (© 2022 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)

Details

Language :
English
ISSN :
1097-0215
Volume :
152
Issue :
6
Database :
MEDLINE
Journal :
International journal of cancer
Publication Type :
Academic Journal
Accession number :
36385461
Full Text :
https://doi.org/10.1002/ijc.34359