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