Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.

DNA Repair Genetic Counselling Genetic Predisposition to Disease Neoplasms Paediatrics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
29 Sep 2023
Historique:
received: 23 02 2023
accepted: 21 08 2023
medline: 30 9 2023
pubmed: 30 9 2023
entrez: 29 9 2023
Statut: aheadofprint

Résumé

Differential diagnosis between

Identifiants

DOI: 10.1136/jmg-2023-109235 PMID: 37775264
pubmed: 37775264
pii: jmg-2023-109235
doi: 10.1136/jmg-2023-109235
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 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.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Léa Guerrini-Rousseau (L)

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France lea.guerrini-rousseau@gustaveroussy.fr.
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.
ORCID: 0000-0003-0050-5407

Eric Pasmant (E)

Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France.
Inserm U1016-CNRS UMR8104, Institut Cochin, Université Paris Cité, CARPEM, Paris, France.
ORCID: 0000-0002-1881-8762

Martine Muleris (M)

Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.
Sorbonne 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.

Samuel Abbou (S)

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
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.

Tiphaine Adam-De-Beaumais (T)

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.

Laurence Brugieres (L)

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
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.

Odile Cabaret (O)

Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France.

Chrystelle Colas (C)

Department of Genetics, Institut Curie, PSL Research University, Paris, France.
Inserm 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.
ORCID: 0000-0001-9146-9346

Sophie Cotteret (S)

Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France.

Philippe Decq (P)

Neurosurgery Department, Beaujon Hospital, Paris Cité University, Paris, France.

Christelle Dufour (C)

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
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.

Erell Guillerm (E)

Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.
Sorbonne 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.

Etienne Rouleau (E)

Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France.

Pascale Varlet (P)

Service de Neuropathologie, GHU Psychiatrie et Neurosciences, site Sainte-Anne, Paris, France.

Saïma Zili (S)

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.

Dominique Vidaud (D)

Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France.

Jacques Grill (J)

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
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.

Classifications MeSH