Outcomes of multigene panel testing for hereditary cancer in two Israeli medical centers 2013-2024.

Multigene NGS (29-160 genes) after first-pass BRCA1/2/MSH2/MSH6 genotyping in Israel — yield and spectrum of identified variants

2,990 individuals who underwent multigene panel testing in Israel between 2013 and 2024 after oncogenetic counseling are analyzed. An overall yield of 7.8% (234 individuals, 139 variants in 39 genes) is observed following first-pass BRCA1/2/MSH2/MSH6 genotyping. This study documents 11 years of practice evolution and the spectrum of genes identified by multigene panels in a strong founder population.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This 11-year Israeli cohort illustrates the added value of multigene panels after a first-pass major gene screen — a model potentially applicable to national preemptive genotyping programs such as France's. The 7.8% yield in BRCA/MMR 'negatives' is clinically significant.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 6/10