Author

Anastasia Dell'Elice

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Review Open access Sep 2026

Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer

This review critically examines the current evidence supporting the clinical utility of germline WES in Hereditary Cancer syndromes, focusing on the clinical scenarios in which WES may provide meaningful additional information beyond multigene panels, its diagnostic yield, limitations, and future perspectives in precis...

Anastasia Dell'Elice, L. Lombardi, Federico Anaclerio et al. · Genes · 0 citations

Open access Jul 2026

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.

CES may provide additional exploratory genomic information in selected high-risk BRCA1/2-negative patients, particularly when standard panel testing is uninformative, and represents a valuable resource for future reinterpretation as gene-disease evidence evolves.

Anastasia Dell'Elice, Claudia Palmarini, Federico Anaclerio et al. · Journal of Medical Genetics · 0 citations