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Cancer genetics
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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency

Authors

  • Léa Guerrini-Rousseau Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, FranceMolecular Predictors and New Targets in Oncology, Inserm U981 Team “Genomics and Oncogenesis of pediatric Brain Tumors”, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  • Eric Pasmant Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, FranceInserm U1016-CNRS UMR8104, Institut Cochin, Université Paris Cité, CARPEM, Paris, France PubMed articlesGoogle scholar articles
  • Martine Muleris Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, FranceSorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012 Paris, France PubMed articlesGoogle scholar articles
  • Samuel Abbou Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, FranceMolecular Predictors and New Targets in Oncology, Inserm U981 Team “Genomics and Oncogenesis of pediatric Brain Tumors”, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  • Tiphaine Adam-De-Beaumais Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  • Laurence Brugieres Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, FranceMolecular Predictors and New Targets in Oncology, Inserm U981 Team “Genomics and Oncogenesis of pediatric Brain Tumors”, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  • Odile Cabaret Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France PubMed articlesGoogle scholar articles
  • Chrystelle Colas Department of Genetics, Institut Curie, PSL Research University, Paris, FranceInserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe Labellisée Par la Ligue Nationale Contre le Cancer, Institut Curie, PSL Research University, Paris, France PubMed articlesGoogle scholar articles
  • Sophie Cotteret Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France PubMed articlesGoogle scholar articles
  • Philippe Decq Neurosurgery Department, Beaujon Hospital, Paris Cité University, Paris, France PubMed articlesGoogle scholar articles
  • Christelle Dufour Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, FranceMolecular Predictors and New Targets in Oncology, Inserm U981 Team “Genomics and Oncogenesis of pediatric Brain Tumors”, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  • Erell Guillerm Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, FranceSorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012 Paris, France PubMed articlesGoogle scholar articles
  • Etienne Rouleau Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France PubMed articlesGoogle scholar articles
  • Pascale Varlet Service de Neuropathologie, GHU Psychiatrie et Neurosciences, site Sainte-Anne, Paris, France PubMed articlesGoogle scholar articles
  • Saïma Zili Molecular Predictors and New Targets in Oncology, Inserm U981 Team “Genomics and Oncogenesis of pediatric Brain Tumors”, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  • Dominique Vidaud Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Jacques Grill Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, FranceMolecular Predictors and New Targets in Oncology, Inserm U981 Team “Genomics and Oncogenesis of pediatric Brain Tumors”, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Léa Guerrini-Rousseau, Department of Child, Adolescent and Young Adult Oncology, Gustave Roussy Institute, Villejuif, 94805, France; lea.guerrini-rousseau{at}gustaveroussy.fr
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Citation

Guerrini-Rousseau L, Pasmant E, Muleris M, et al
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Journal of Medical Genetics Published Online First: 29 September 2023. doi: 10.1136/jmg-2023-109235

Publication history

  • Received February 23, 2023
  • Accepted August 21, 2023
  • First published September 29, 2023.

  • Supplementary Data

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.