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  • Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

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Cancer genetics
Original research
Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

Authors

  • Alexandre Buffet Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France PubMed articlesGoogle scholar articles
  • Bruna Calsina Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain; and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Shahida Flores Division of Hematology and Medical Oncology, Department of Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articlesGoogle scholar articles
  • Sophie Giraud Genetics Department, Hospices Civils de LYON (HCL), University Hospital, East Biology and Pathology Center, B-A3, 59 Bld Pinel, 69677, Bron, France Réseau National pour Cancers Rares PREDIR labellisé par l’Institut National contre le Cancer, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France PubMed articlesGoogle scholar articles
  • Marion Lenglet École Pratique des Hautes Études, PSL Research University, Paris, France L'Institut du Thorax, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Pauline Romanet Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France PubMed articlesGoogle scholar articles
  • Elisa Deflorenne Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France PubMed articlesGoogle scholar articles
  • Javier Aller Endocrinology and Nutrition Service. Hospital Universitario Puerta de Hierro, 28222, Majadahonda, Spain PubMed articlesGoogle scholar articles
  • Isabelle Bourdeau Division of Endocrinology, Department of Medicine, Centre de recherche du Centre hospitalier de l'Université de Montréal (CRCHUM), Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Brigitte Bressac-de Paillerets Réseau National pour Cancers Rares PREDIR labellisé par l’Institut National contre le Cancer, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France Gustave Roussy, Université Paris-Saclay, Département de Biopathologie and INSERM U1186, Villejuif, F-94805, France PubMed articlesGoogle scholar articles
  • María Calatayud Department of Endocrinology and Nutrition, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain PubMed articlesGoogle scholar articles
  • Caroline Dehais Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie 2-Mazarin, Paris, France PubMed articlesGoogle scholar articles
  • Erwan De Mones Del Pujol Service ORL, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France PubMed articlesGoogle scholar articles
  • Atanaska Elenkova Department of Endocrinology, USHATE “Acad. Ivan Penchev”, Medical University Sofia, Sofia, Bulgaria PubMed articlesGoogle scholar articles
  • Philippe Herman Assistance Publique, Hôpitaux de Paris, Service ORL-CCF, hôpital Lariboisière, université Paris VII, Paris, France PubMed articlesGoogle scholar articles
  • Peter Kamenický Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin Bicetre, France PubMed articlesGoogle scholar articles
  • Sophie Lejeune Réseau National pour Cancers Rares PREDIR labellisé par l’Institut National contre le Cancer, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France Department of Clinical Genetics, Centre Hospitalier Régional et Universitaire de Lille, Lille, France PubMed articlesGoogle scholar articles
  • Jean Louis Sadoul Service d'Endocrinologie, Hôpital de L'Archet, CHU de Nice, Nice, France PubMed articlesGoogle scholar articles
  • Anne Barlier Réseau National pour Cancers Rares PREDIR labellisé par l’Institut National contre le Cancer, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France PubMed articlesGoogle scholar articles
  • Stephane Richard Réseau National pour Cancers Rares PREDIR labellisé par l’Institut National contre le Cancer, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France École Pratique des Hautes Études, PSL Research University, Paris, France Génétique Oncologique EPHE, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France PubMed articlesGoogle scholar articles
  • Judith Favier Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France PubMed articlesGoogle scholar articles
  • Nelly Burnichon Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France PubMed articlesGoogle scholar articles
  • Betty Gardie École Pratique des Hautes Études, PSL Research University, Paris, France L'Institut du Thorax, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Patricia L Dahia Division of Hematology and Medical Oncology, Department of Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articlesGoogle scholar articles
  • Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain; and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Anne-Paule Gimenez-Roqueplo Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France Réseau National pour Cancers Rares PREDIR labellisé par l’Institut National contre le Cancer, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Alexandre Buffet, Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France; alexandre.buffet{at}inserm.fr
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Citation

Buffet A, Calsina B, Flores S, et al
Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
Journal of Medical Genetics 2020;57:752-759.

Publication history

  • Received August 22, 2019
  • Revised January 3, 2020
  • Accepted January 6, 2020
  • First published January 29, 2020.
Online issue publication 
October 23, 2020

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© Author(s) (or their employer(s)) 2020. 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/.