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A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

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Title: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.
Authors: Schwartz M; Department of Genetics, Institut Curie, Paris, France. mathias.schwartz@curie.fr.; Dynamics of epigenetic plasticity in cancer, UMR3244, Institut Curie, Paris, France. mathias.schwartz@curie.fr.; Paris Sciences Lettres (PSL) Research University, Paris, France. mathias.schwartz@curie.fr., Filser M; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Merchadou K; Paris Sciences Lettres (PSL) Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France., Lemaitre E; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Abidallah K; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Tenreiro H; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Dubois D'enghien C; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Rapinat A; Paris Sciences Lettres (PSL) Research University, Paris, France.; Genomics Core Facility, Department of Translational Research, Institut Curie, Paris, France., Pierre-Noel E; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Suybeng V; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Espenel M; Paris Sciences Lettres (PSL) Research University, Paris, France.; Institut Curie Genomics of Excellence (ICGex) Next-Generation Sequencing Core Facility, Institut Curie, Paris, France., Baulande S; Paris Sciences Lettres (PSL) Research University, Paris, France.; Institut Curie Genomics of Excellence (ICGex) Next-Generation Sequencing Core Facility, Institut Curie, Paris, France., Adams S; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Remenieras A; Laboratoire d'Oncogénétique Moléculaire, Département de Biologie du Cancer, Institut Paoli Calmettes, Marseille, France., Renaud C; Laboratoire de biologie et de génétique du cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer and Brain Genomics, Rouen, France., Aucouturier C; Laboratoire de biologie et de génétique du cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer and Brain Genomics, Rouen, France., Delnatte C; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France., Garrec C; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France., Renault V; Paris Sciences Lettres (PSL) Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France., Golmard L; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Fourme E; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Masliah-Planchon J; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France., Caputo SM; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jul 31; Vol. 10 (1), pp. 58. Date of Electronic Publication: 2025 Jul 31.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.
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  Data: <searchLink fieldCode="AU" term="%22Schwartz+M%22">Schwartz M</searchLink>; Department of Genetics, Institut Curie, Paris, France. mathias.schwartz@curie.fr.; Dynamics of epigenetic plasticity in cancer, UMR3244, Institut Curie, Paris, France. mathias.schwartz@curie.fr.; Paris Sciences Lettres (PSL) Research University, Paris, France. mathias.schwartz@curie.fr.<br /><searchLink fieldCode="AU" term="%22Filser+M%22">Filser M</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Merchadou+K%22">Merchadou K</searchLink>; Paris Sciences Lettres (PSL) Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lemaitre+E%22">Lemaitre E</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abidallah+K%22">Abidallah K</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tenreiro+H%22">Tenreiro H</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dubois+D'enghien+C%22">Dubois D'enghien C</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rapinat+A%22">Rapinat A</searchLink>; Paris Sciences Lettres (PSL) Research University, Paris, France.; Genomics Core Facility, Department of Translational Research, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pierre-Noel+E%22">Pierre-Noel E</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Suybeng+V%22">Suybeng V</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Espenel+M%22">Espenel M</searchLink>; Paris Sciences Lettres (PSL) Research University, Paris, France.; Institut Curie Genomics of Excellence (ICGex) Next-Generation Sequencing Core Facility, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baulande+S%22">Baulande S</searchLink>; Paris Sciences Lettres (PSL) Research University, Paris, France.; Institut Curie Genomics of Excellence (ICGex) Next-Generation Sequencing Core Facility, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Adams+S%22">Adams S</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Remenieras+A%22">Remenieras A</searchLink>; Laboratoire d'Oncogénétique Moléculaire, Département de Biologie du Cancer, Institut Paoli Calmettes, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Renaud+C%22">Renaud C</searchLink>; Laboratoire de biologie et de génétique du cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer and Brain Genomics, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Aucouturier+C%22">Aucouturier C</searchLink>; Laboratoire de biologie et de génétique du cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer and Brain Genomics, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Delnatte+C%22">Delnatte C</searchLink>; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Garrec+C%22">Garrec C</searchLink>; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Renault+V%22">Renault V</searchLink>; Paris Sciences Lettres (PSL) Research University, Paris, France.; Clinical Bioinformatics Unit, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Golmard+L%22">Golmard L</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fourme+E%22">Fourme E</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Masliah-Planchon+J%22">Masliah-Planchon J</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Caputo+SM%22">Caputo SM</searchLink>; Department of Genetics, Institut Curie, Paris, France.; Paris Sciences Lettres (PSL) Research University, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 Jul 31; Vol. 10 (1), pp. 58. <i>Date of Electronic Publication: </i>2025 Jul 31.
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