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Article

Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions.

European journal of human genetics : EJHG - 1 Sept 2026

Belhadj Sami, Hatch Christopher J, LaDuca Holly, Horton Carolyn, Berger Seth I, Karam Rachid

Abstract excerpt

Over the past three decades, Hereditary Cancer Testing (HCT) has evolved from single gene assays into multigene panel testing (MGPT), which allows for the screening of all known hereditary cancer genes in a single assay. MGPT is currently the standard approach for clinical HCT. However, with decreasing sequencing costs and increased instrument throughput, the scalability of exome sequencing (ES) and genome...

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PMID: 41851262
DOI: 10.1038/s41431-026-02078-x
PMCID: PMC13550574

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PMS2

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