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.
- DNA damage
- DNA repair
- early diagnosis
- genetic carrier screening
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Contributors ZQ: sample collection, data collection, annotation and analysis; CNK, LJ, ZL, HKL, LW and GM: sample collection; HD: data collection and analysis; MQ: statistics data analysis; SMW: funding, experimental design, data analysis and interpretation, and manuscript writing.
Funding This work was funded by a Macau Science and Technology Development - Ministry of Science and Technology of People's Republic of China fund (0077/2019/AMJ), grants from the University of Macau (SRG2017-00097-FHS, MYRG2019-00018-FHS), a grant (FHSIG/SW/0007/2020P) and a startup fund from the Faculty of Health Sciences, University of Macau (SMW). We are thankful to the Information and Communication Technology Office, University of Macau, for providing the high-performance computing cluster resource and facilities for the study.
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Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
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