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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 PublicationJournal of Medical Genetics
ISSN0022-2593
Volume58Issue: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.

KeywordDna Repair Genetic Heterogeneity Genetic Predisposition To Disease Genetic Variation Genetics Medical
DOI10.1136/jmedgenet-2020-107299
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaGenetics & Heredity
WOS SubjectGenetics & Heredity
WOS IDWOS:000713167600006
PublisherBMJ PUBLISHING GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
Scopus ID2-s2.0-85118456722
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Document TypeJournal article
CollectionFaculty of Health Sciences
Corresponding AuthorSan Ming Wang
Affiliation1.Faculty of Health Sciences, University of Macau, Taipa, Macau, Macao
2.Healthcare Analytics Institute, Eastern Virginia Medical School, Norfolk, United States
First Author AffilicationFaculty of Health Sciences
Corresponding Author AffilicationFaculty 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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