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Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.

Clinical genetics - 1 Jul 2023

Schwartz Mathias, Moncoutier Virginie, Peytral Adrien, Le Gall Jessica, Suybeng Voreak, Pagès Mélanie, Masliah-Planchon Julien, Trabelsi-Grati Olfa, Melaabi Samia, Callens Céline, Bièche Ivan, Delhomelle Hélène, De Pauw Antoine, Saule Claire, Mouret-Fourme Emmanuelle, Gauthier-Villars Marion, Buecher Bruno, Colas Chrystelle, Stoppa-Lyonnet Dominique, Golmard Lisa

Abstract excerpt

In breast or ovarian cancer (BC/OC) patients with evocative personal and/or family history, multigene panel sequencing is performed on blood to diagnose hereditary predispositions. Additionally, BRCA1/BRCA2 testing can be performed on tumor sample for therapeutic purpose. The accuracy of multigene panel tumor analysis on BC/OC to detect predisposing germline pathogenic variants (gPV) has not been precisely...

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PMID: 36974006
DOI: 10.1111/cge.14327

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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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