Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:58 |
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| Enthalten in: |
Journal of medical genetics - 58(2021), 9 vom: 14. Sept., Seite 587-591 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Qin, Zixin [VerfasserIn] |
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| Links: |
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| Themen: |
DNA damage |
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| Anmerkungen: |
Date Completed 22.02.2022 Date Revised 22.02.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1136/jmedgenet-2020-107181 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM313911207 |
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| 520 | |a © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a DNA damage | |
| 650 | 4 | |a DNA repair | |
| 650 | 4 | |a early diagnosis | |
| 650 | 4 | |a genetic carrier screening | |
| 650 | 4 | |a genetics | |
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| 700 | 1 | |a Wang, San Ming |e verfasserin |4 aut | |
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