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. |
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| 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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