Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 279-293 http://medscipublisher.com/index.php/cge 283 al., 2003). These statistics underscore the importance of personalized risk assessment and tailored monitoring protocols. For effective monitoring, a combination of mammography and magnetic resonance imaging (MRI) is recommended, especially for BRCA1 mutation carriers. A meta-analysis revealed that this combined approach has a sensitivity of 94%, significantly higher than mammography alone (Warner, 2018). Additionally, cost-effectiveness analyses suggest that while combined mammography and MRI are beneficial for BRCA1 mutation carriers, BRCA2 carriers may not derive the same benefit from adjunct MRI screening, making mammography alone a sufficient and cost-effective option for them (Figure 2)(Li et al., 2022). These findings support the need for precision screening strategies based on individual risk profiles. Figure 2 Outcomes from studies from cost-effectiveness analysis of screening strategies comparing mammography and MRI which are categorized by age in BRCA1 mutation carriers (A), BRCA2 mutation carriers (B), and BRCA1/2 mutation carriers (C) (Adopted from Li et al., 2022) Image caption: The incremental cost-effectiveness ratio (ICER) extracted from our study selection is considered cost-effective if it reaches the threshold. The bars implicate the modality is conducted annually without special illustrations. The explanation of an expensive way which is considered absolutely not cost-effective is discussed. Comparison of the different screening strategies, mainly discussing the combination of MRI and mammography compared with mammography alone (brown color means using MRI alone, gray color means mammography alone, and light orange color means applying a combination of the two). The target population involves BRCA1 mutation carriers (A), BRCA2 mutation carriers (B), and not discriminated BRCA1/2 mutation carriers (C). ICER, threshold, and cost-effectiveness evaluation are shown in each following strategy. MRI, magnetic resonance imaging; MMG, mammography; LYG, life-year gained; QALY, quality-adjusted life years; ICER, incremental cost-effectiveness ratio. a) Screening was conducted for patients with an age range of 10 years and this model involves an age range of women which includes the 30–39 age group and 40–49 age group; b) patients with dense breast; c) screening modalities through a lifetime; d) the result of the cost-effective analysis is under the Dutch discount rate; e) ICER is not reported in the original studies, which is calculated by the average of ICER from its original data; f) the screening modalities continue till 79 years old (Adopted from Li et al., 2022) 4.3 Clinical applications and challenges of BRCA testing The clinical applications of BRCA testing extend beyond risk assessment to inform treatment decisions and preventive measures. For instance, identifying BRCA mutations can guide the choice of prophylactic surgeries, such as mastectomy or oophorectomy, which significantly reduce cancer risk in mutation carriers (Zen et al.,
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