Article
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.
Journal of medical genetics - 29 Sept 2026
Dell'Elice Anastasia, Palmarini Claudia, Anaclerio Federico, Pilenzi Lucrezia, Calabrese Giuseppe, Palka Chiara, Tinari Nicola, Grassadonia Antonino, Ballerini Patrizia, Grossi Simona, Vitali Marco, Secondi Lorenzo, Amerio Paolo, Gatta Valentina, Stuppia Liborio, Antonucci Ivana
Abstract excerpt
BACKGROUND: Hereditary cancer syndromes (HCSs) account for approximately 5-10% of all cancers and are frequently associated with pathogenic variants (PVs) in genes such as BRCA1 and BRCA2. Nevertheless, a substantial proportion of individuals with strong familial cancer aggregation remain genetically unexplained after standard multigene panel testing. Clinical exome sequencing (CES) may overcome this limitation...
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