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Article

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome medicine - 9 Nov 2021

Billaud Amandine, Chevalier Louise-Marie, Augereau Paule, Frenel Jean-Sebastien, Passot Christophe, Campone Mario, Morel Alain

Abstract excerpt

BACKGROUND: Targeted therapies in oncology are promising but variants of uncertain significance (VUS) limit their use for clinical management and necessitate functional testing in vitro. Using BRCA1 and BRCA2 variants, which have consequences on PARP inhibitor sensitivity, and POLE variants, potential biomarkers of immunotherapy response, we developed a rapid functional assay based on CRISPR-Cas9 genome editing...

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Source

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Identifiers

PMID: 34749799
DOI: 10.1186/s13073-021-00976-x
PMCID: PMC8576946

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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