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Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
Qin, Zixin1; Kuok, Cheong Nang2; Dong, Hui3; Jiang, Luhan1; Zhang, Li1; Guo, Maoni1; Leong, Hio Kuan1; Wang, Lei1; Meng, Grace4; Wang, San Ming1
2021-09
Source PublicationJOURNAL OF MEDICAL GENETICS
ISSN0022-2593
Volume58Issue:9Pages:587-591
Abstract

Background Pathogenic mutation in BRCA genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing BRCA mutation-related cancer. Population screening has demonstrated its power for comprehensive identification of the mutation carriers. However, it is only recommended for the Ashkenazi Jewish population with high prevalence of three founder mutations, but not for non-Ashkenazi Jewish populations as the cost-effectiveness could be too low due to their lower mutation prevalence and lack of founder mutation. Population screening would not benefit the majority of the human population for BRCA mutation-related cancer prevention. Methods We used population BRCA screening in 6000 residents, 1% of the Macau population, an ethnic Chinese population with unique genetic, linguistic and cultural features, and its BRCA mutation has not been analysed before. Results We called BRCA variants, identified 18 carriers with 14 pathogenic mutations and determined the prevalence of 0.29% in the population (95% CI 0.15% to 0.42%). We compared the testing cost between the Ashkenazi Jewish population, the Sephardi Jewish population and the Macau population, and observed only a few fold differences. Conclusion Our study shows that testing cost is not the most important factor in considering population BRCA screening, at least for the populations in the developed countries/regions, regardless of the status of mutation prevalence and founder mutation.

KeywordDna Damage Dna Repair Early Diagnosis Genetic Carrier Screening Genetics
DOI10.1136/jmedgenet-2020-107181
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaGenetics & Heredity
WOS SubjectGenetics & Heredity
WOS IDWOS:000691008100002
PublisherBMJ PUBLISHING GROUPBRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
Scopus ID2-s2.0-85108793429
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Document TypeJournal article
CollectionFaculty of Health Sciences
DEPARTMENT OF PUBLIC HEALTH AND MEDICINAL ADMINISTRATION
Corresponding AuthorWang, San Ming
Affiliation1.Faculty of Health Sciences, University of Macau, Taipa, Macao
2.Oriental X-Ray Inc, Macao
3.Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
4.Macau Polytechnic Institute, Macao
First Author AffilicationFaculty of Health Sciences
Corresponding Author AffilicationFaculty of Health Sciences
Recommended Citation
GB/T 7714
Qin, Zixin,Kuok, Cheong Nang,Dong, Hui,et al. Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population[J]. JOURNAL OF MEDICAL GENETICS, 2021, 58(9), 587-591.
APA Qin, Zixin., Kuok, Cheong Nang., Dong, Hui., Jiang, Luhan., Zhang, Li., Guo, Maoni., Leong, Hio Kuan., Wang, Lei., Meng, Grace., & Wang, San Ming (2021). Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population. JOURNAL OF MEDICAL GENETICS, 58(9), 587-591.
MLA Qin, Zixin,et al."Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population".JOURNAL OF MEDICAL GENETICS 58.9(2021):587-591.
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