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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

Journal of medical genetics, 2021-11, Vol.58 (11), p.752-759 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107299 ;PMID: 32963034

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  • Title:
    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
  • Author: Bhaskaran, Shanmuga Priya ; Huang, Teng ; Rajendran, Barani Kumar ; Guo, Maoni ; Luo, Jiangtao ; Qin, Zixin ; Zhao, Bojin ; Chian, Jiasheng ; Li, Suicheng ; Wang, San Ming
  • Subjects: Asians - genetics ; BRCA1 protein ; BRCA1 Protein - genetics ; BRCA2 protein ; BRCA2 Protein - genetics ; Breast cancer ; Cancer ; Cancer genetics ; Data mining ; DNA repair ; Founder Effect ; genetic heterogeneity ; Genetic Predisposition to Disease ; Genetic Variation ; genetics ; Genomes ; Humans ; India ; Japan ; medical ; Mutation ; Neoplasms - genetics ; Ovarian cancer ; Population ; Population studies ; Proteins ; Variation
  • Is Part Of: Journal of medical genetics, 2021-11, Vol.58 (11), p.752-759
  • Description: BackgroundGermline 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.MethodsWe 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.ResultsOur 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.ConclusionData 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.
  • Publisher: England: BMJ Publishing Group Ltd
  • Language: English
  • Identifier: ISSN: 0022-2593
    EISSN: 1468-6244
    DOI: 10.1136/jmedgenet-2020-107299
    PMID: 32963034
  • Source: MEDLINE
    Alma/SFX Local Collection
    ProQuest Central
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