Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.
American journal of obstetrics and gynecology
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Patel, S., Legood, R., Evans, D. G., Turnbull, C., Antoniou, A., Menon, U., Jacobs, I., & et al. (2018). Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.. American journal of obstetrics and gynecology, 218 (4), 431.e1-431.e12. https://doi.org/10.1016/j.ajog.2017.12.221
Population-based BRCA1/BRCA2 founder-mutation testing has been demonstrated as cost-effective compared to family-history(FH) based testing in Ashkenazi Jewish(AJ) women. However, only one of the three AJ BRCA1/BRCA2 founder-mutations (185delAG(c.68_69delAG), 5382insC(c.5266dupC) and 6174delT(c.5946delT)) is found in the Sephardi Jewish(SJ) population (185delAG(c.68_69delAG)) and the overall prevalence of BRCA mutations in the SJ population is accordingly lower (0.7% compared to 2.5% in the AJ population). Cost-effectiveness analyses of BRCA testing have not previously been performed at these lower BRCA prevalence levels seen in SJ. Here we present a cost-effectiveness analysis for UK and US populations comparing population-testing with Clinical-criteria/FH-based testing in SJ women.
Humans, Magnetic Resonance Imaging, Mammography, Hormone Replacement Therapy, Ovariectomy, Life Expectancy, Markov Chains, Heterozygote, Mutation, Genes, BRCA1, Quality-Adjusted Life Years, Adult, Middle Aged, Jews, Cost-Benefit Analysis, United States, Female, Genetic Testing, Hereditary Breast and Ovarian Cancer Syndrome, Prophylactic Surgical Procedures, United Kingdom, Prophylactic Mastectomy
External DOI: https://doi.org/10.1016/j.ajog.2017.12.221
This record's URL: https://www.repository.cam.ac.uk/handle/1810/273890