Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
| Autor: | San Ming Wang, Hui Dong, Maoni Guo, Luhan Jiang, Grace Meng, Lei Wang, Zixin Qin, Cheong Nang Kuok, Hio Kuan Leong, Li Zhang |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
education.field_of_study Cancer prevention Population BRCA mutation Genetic Carrier Screening Cancer Biology medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis Mutation (genetic algorithm) Genetics medicine Ashkenazi Jewish education Developed country Genetics (clinical) Demography |
| Zdroj: | Journal of Medical Genetics. 58:587-591 |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2020-107181 |
| Popis: | BackgroundPathogenic 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.MethodsWe 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.ResultsWe 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.ConclusionOur 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. |
| Databáze: | OpenAIRE |
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