Residential College | false |
Status | 已發表Published |
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 Publication | JOURNAL OF MEDICAL GENETICS |
ISSN | 0022-2593 |
Volume | 58Issue: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 cost-effective could be too high 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 screening in 6000 residents, 1% of the Macau population, an ethnic Chinese population with unique genetic, linguistic and cultural features, and BRCA mutation has not been analysed. 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. |
Keyword | Brca Pathogenic Mutation Macau Population |
DOI | 10.1136/jmedgenet-2020-107181 |
Indexed By | SCIE |
Language | 英語English |
WOS Research Area | Genetics & Heredity |
WOS Subject | Genetics & Heredity |
WOS ID | WOS:000691008100002 |
Publisher | BMJ PUBLISHING GROUPBRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND |
The Source to Article | PB_Publication |
Scopus ID | 2-s2.0-85108793429 |
Fulltext Access | |
Citation statistics | |
Document Type | Journal article |
Collection | DEPARTMENT OF PUBLIC HEALTH AND MEDICINAL ADMINISTRATION Faculty of Health Sciences |
Corresponding Author | Wang, San Ming |
Affiliation | 1.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 Affilication | Faculty of Health Sciences |
Corresponding Author Affilication | Faculty 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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