Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers (Contributed by Dr. Federico Anaclerio)

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Many families with a strong history of cancer remain without a genetic diagnosis after standard
BRCA1/2 testing. In this study, we investigated whether Clinical Exome Sequencing (CES) could
provide additional genomic information in 500 high-risk individuals who previously tested
negative for BRCA1/2 pathogenic variants. While most additional findings are not yet ready for
routine clinical use, CES identified variants that may contribute to future research and improve
our understanding of hereditary cancer susceptibility. Our findings support the use of CES as a
complementary second-tier approach in selected high-risk patients and highlight the value of
periodic reinterpretation as genetic knowledge continues to evolve. (https://jmg.bmj.com/content/early/2026/07/24/jmg-2026-111497)

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