Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

doi:10.1158/0008-5472.CAN-19-2491

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Article

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Cancer research - 1 Apr 2020

Meulemans Laëtitia, Mesman Romy L S, Caputo Sandrine M, Krieger Sophie, Guillaud-Bataille Marine, Caux-Moncoutier Virginie, Léone Mélanie, Boutry-Kryza Nadia, Sokolowska Johanna, Révillion Françoise, Delnatte Capucine, Tubeuf Hélène, Soukarieh Omar, Bonnet-Dorion Françoise, Guibert Virginie, Bronner Myriam, Bourdon Violaine, Lizard Sarab, Vilquin Paul, Privat Maud, Drouet Aurélie, Grout Charlotte, Calléja Fabienne M G R, Golmard Lisa, Vrieling Harry, Stoppa-Lyonnet Dominique, Houdayer Claude, Frebourg Thierry, Vreeswijk Maaike P G, Martins Alexandra, Gaildrat Pascaline

Abstract excerpt

Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function through their impact on RNA splicing. To test this hypothesis, we used the alternatively spliced BRCA2 exon 12 (E12) as a model system because its in-frame skipping leads to a...

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PMID: 32046981
DOI: 10.1158/0008-5472.CAN-19-2491

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

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