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Article

Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.

Journal of medical genetics - 27 Nov 2023

Filser Mathilde, Schwartz Mathias, Merchadou Kevin, Hamza Abderaouf, Villy Marie-Charlotte, Decees Antoine, Frouin Eléonore, Girard Elodie, Caputo Sandrine M, Renault Victor, Becette Véronique, Golmard Lisa, Servant Nicolas, Stoppa-Lyonnet Dominique, Delattre Olivier, Colas Chrystelle, Masliah-Planchon Julien

Abstract excerpt

BRCA1 and BRCA2 are tumour suppressor genes that have been characterised as predisposition genes for the development of hereditary breast and ovarian cancers among other malignancies. The molecular diagnosis of this predisposition syndrome is based on the detection of inactivating variants of any type in those genes. But in the case of structural variants, functional consequences can be difficult to assess using...

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Identifiers

PMID: 37263769
DOI: 10.1136/jmg-2023-109155
PMCID: PMC10715497

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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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