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Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

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Title: Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.
Authors: Boedec M; Service de Génétique Oncologique, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France., Aucouturier C; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France., Cavaillé M; Department of Oncogenetics, Jean Perrin Center, 63011, Clermont-Ferrand, France.; GCS AURAGEN, Lyon, France.; Faculté de Médecine, Département de Pédiatrie, Université de Laval, Québec, Qc, G1V 4G2, Canada., Leman R; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France., Castéra L; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France., Delhomelle H; Department of genetics, Curie Institute, Paris, France.; Paris Sciences & Lettres Research University, Paris, France., Uhrhammer N; Department of Oncogenetics, Jean Perrin Center, 63011, Clermont-Ferrand, France.; GCS AURAGEN, Lyon, France., Bernard V; GCS AURAGEN, Lyon, France., Giraud S; GCS AURAGEN, Lyon, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France., Lasseaux E; GCS AURAGEN, Lyon, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France., Jones N; GCS AURAGEN, Lyon, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France., Bidart M; GCS AURAGEN, Lyon, France.; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, Grenoble, France., Boutry-Kryza N; GCS AURAGEN, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Bron, France., Noguès C; Cancer Risk Management Department, Clinical Oncogenetics, Institut Paoli-Calmettes, Marseille, France.; Aix-Marseille Université, IRD, SESSTIM, Inserm, Marseille, France., Colas C; Department of genetics, Curie Institute, Paris, France.; Paris Sciences & Lettres Research University, Paris, France., Maugard C; Service de Génétique Oncologique, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France., Krieger S; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France.; Normandie Univ, UNICAEN, 14000, Caen, France., Bouras A; GCS AURAGEN, Lyon, France. ahmed.bouras@lyon.unicancer.fr.; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France. ahmed.bouras@lyon.unicancer.fr.; Inserm U1052, Lyon Cancer Research Center, Lyon, France. ahmed.bouras@lyon.unicancer.fr.
Source: Familial cancer [Fam Cancer] 2025 Feb 07; Vol. 24 (1), pp. 21. Date of Electronic Publication: 2025 Feb 07.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Boedec+M%22">Boedec M</searchLink>; Service de Génétique Oncologique, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Aucouturier+C%22">Aucouturier C</searchLink>; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Cavaillé+M%22">Cavaillé M</searchLink>; Department of Oncogenetics, Jean Perrin Center, 63011, Clermont-Ferrand, France.; GCS AURAGEN, Lyon, France.; Faculté de Médecine, Département de Pédiatrie, Université de Laval, Québec, Qc, G1V 4G2, Canada.<br /><searchLink fieldCode="AU" term="%22Leman+R%22">Leman R</searchLink>; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Castéra+L%22">Castéra L</searchLink>; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Delhomelle+H%22">Delhomelle H</searchLink>; Department of genetics, Curie Institute, Paris, France.; Paris Sciences & Lettres Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Uhrhammer+N%22">Uhrhammer N</searchLink>; Department of Oncogenetics, Jean Perrin Center, 63011, Clermont-Ferrand, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Bernard+V%22">Bernard V</searchLink>; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Giraud+S%22">Giraud S</searchLink>; GCS AURAGEN, Lyon, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lasseaux+E%22">Lasseaux E</searchLink>; GCS AURAGEN, Lyon, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Jones+N%22">Jones N</searchLink>; GCS AURAGEN, Lyon, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Bidart+M%22">Bidart M</searchLink>; GCS AURAGEN, Lyon, France.; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Boutry-Kryza+N%22">Boutry-Kryza N</searchLink>; GCS AURAGEN, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Noguès+C%22">Noguès C</searchLink>; Cancer Risk Management Department, Clinical Oncogenetics, Institut Paoli-Calmettes, Marseille, France.; Aix-Marseille Université, IRD, SESSTIM, Inserm, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Colas+C%22">Colas C</searchLink>; Department of genetics, Curie Institute, Paris, France.; Paris Sciences & Lettres Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maugard+C%22">Maugard C</searchLink>; Service de Génétique Oncologique, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Krieger+S%22">Krieger S</searchLink>; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, 14000, Caen, France.; FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, 76031, Rouen, France.; Normandie Univ, UNICAEN, 14000, Caen, France.<br /><searchLink fieldCode="AU" term="%22Bouras+A%22">Bouras A</searchLink>; GCS AURAGEN, Lyon, France. ahmed.bouras@lyon.unicancer.fr.; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France. ahmed.bouras@lyon.unicancer.fr.; Inserm U1052, Lyon Cancer Research Center, Lyon, France. ahmed.bouras@lyon.unicancer.fr.
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  Data: <searchLink fieldCode="JN" term="%22100898211%22">Familial cancer</searchLink> [Fam Cancer] 2025 Feb 07; Vol. 24 (1), pp. 21. <i>Date of Electronic Publication: </i>2025 Feb 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>100898211 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-7292 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213899600%22">13899600 </searchLink><i>NLM ISO Abbreviation: </i>Fam Cancer <i>Subsets: </i>MEDLINE
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              Text: 2025 Feb 07
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