Residential College | false |
Status | 已發表Published |
Ethnic-specific BRCA1/2 variation within Asia population: Evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations | |
Shanmuga Priya Bhaskaran1; Teng Huang1; Barani Kumar Rajendran1; Maoni Guo1; Jiangtao Luo2; Zixin Qin1; Bojin Zhao1; Jiasheng Chian1; Suicheng Li1; San Ming Wang1 | |
2021-11 | |
Source Publication | Journal of Medical Genetics |
ISSN | 0022-2593 |
Volume | 58Issue:11Pages:752-759 |
Abstract | Background Germline mutation in BRCA1 and BRCA2 (BRCA) is genetic predisposition for breast and ovarian cancer. Identification of mutation carriers is a critical step to prevent and treat the cancer in the mutation carriers. Human BRCA variation has been well determined as ethnic-specific by studies in Ashkenazi Jewish, Polish and Icelandic populations in the 1990s. However, sufficient evidence is lacking to determine if ethnic-specific BRCA variation is also present in Asia population, which is the largest and the most diversified in modern humans. Our current study aims to investigate ethnic-specific BRCA variation in Asian population. Methods We performed a comprehensive data mining to collect BRCA variation data in Indian, Chinese, Korean and Japanese populations derived from over 78 000 cancer and 40 000 non-cancer cases. We standardised all BRCA variation data following the international standard. We made a systematic comparison between the datasets including variant composition, variation spectrum, variant type, clinical class, founder mutation and high-frequent variants. Results Our analysis showed that over half of the Asian BRCA variants were Asian-specific, and significant differences were present between the four Asia populations in each category analysed. Conclusion Data from our study reveal that ethnic-specific BRCA variation is commonly present in Asia population as existing in non-Asian populations. Our study indicates that ethnicity should be an important factor to consider in prevention and treatment of BRCA mutation-related cancer in the Asia population. We recommend that the current BRCA variation databases should include ethnic variation information in order to function as true global BRCA references. |
Keyword | Dna Repair Genetic Heterogeneity Genetic Predisposition To Disease Genetic Variation Genetics Medical |
DOI | 10.1136/jmedgenet-2020-107299 |
URL | View the original |
Indexed By | SCIE |
Language | 英語English |
WOS Research Area | Genetics & Heredity |
WOS Subject | Genetics & Heredity |
WOS ID | WOS:000713167600006 |
Publisher | BMJ PUBLISHING GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND |
Scopus ID | 2-s2.0-85118456722 |
Fulltext Access | |
Citation statistics | |
Document Type | Journal article |
Collection | Faculty of Health Sciences |
Corresponding Author | San Ming Wang |
Affiliation | 1.Faculty of Health Sciences, University of Macau, Taipa, Macau, Macao 2.Healthcare Analytics Institute, Eastern Virginia Medical School, Norfolk, United States |
First Author Affilication | Faculty of Health Sciences |
Corresponding Author Affilication | Faculty of Health Sciences |
Recommended Citation GB/T 7714 | Shanmuga Priya Bhaskaran,Teng Huang,Barani Kumar Rajendran,et al. Ethnic-specific BRCA1/2 variation within Asia population: Evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations[J]. Journal of Medical Genetics, 2021, 58(11), 752-759. |
APA | Shanmuga Priya Bhaskaran., Teng Huang., Barani Kumar Rajendran., Maoni Guo., Jiangtao Luo., Zixin Qin., Bojin Zhao., Jiasheng Chian., Suicheng Li., & San Ming Wang (2021). Ethnic-specific BRCA1/2 variation within Asia population: Evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations. Journal of Medical Genetics, 58(11), 752-759. |
MLA | Shanmuga Priya Bhaskaran,et al."Ethnic-specific BRCA1/2 variation within Asia population: Evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations".Journal of Medical Genetics 58.11(2021):752-759. |
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