Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 279-293 http://medscipublisher.com/index.php/cge 282 identifying mutations in these genes. However, this approach is labor-intensive and time-consuming. Recent studies have demonstrated the efficacy of next-generation sequencing (NGS) as a more efficient alternative. For instance, a study involving 210 hereditary breast and/or ovarian cancer patients validated the use of the Ion AmpliSeq BRCA1 and BRCA2 panel, which showed high sensitivity and specificity in detecting known pathogenic mutations and polymorphisms (Trujillano et al., 2015). This method not only streamlines the testing process but also allows for the simultaneous analysis of multiple samples, making it a robust tool for clinical diagnostics. Figure 1 Clinical value of prospective WGS. Ultimately (Adopted from Samsom et al., 2022) Image caption: 147 patients started biomarker‐based therapy at a median follow‐up of 14 months, of which two patients (*) received both biomarker‐based therapy in a regular setting and an experimental setting after progression. Dx, diagnostics, WGS, whole-genome sequencing (Adopted from Samsom et al., 2022) Moreover, the integration of picodroplet PCR with NGS has further enhanced the detection capabilities. In a pilot study, this combined approach was used to analyze an 84-gene panel in BRCA1 and BRCA2 mutation-negative patients, identifying several pathogenic mutations in other genes (Nunziato et al., 2019). This highlights the potential of comprehensive genetic panels to uncover additional risk factors, thereby improving the overall diagnostic sensitivity and providing a more complete genetic risk assessment for patients and their families. 4.2 Risk Assessment and Monitoring Recommendations for Mutation Carriers Risk assessment for BRCA1 and BRCA2 mutation carriers is crucial for early detection and prevention strategies. Women with these mutations have significantly elevated risks of developing breast and ovarian cancers. A pooled analysis of 22 studies estimated that by age 70, BRCA1 mutation carriers have a 65% risk of breast cancer and a 39% risk of ovarian cancer, while BRCA2 mutation carriers have a 45% and 11% risk, respectively (Antoniou et
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