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  • Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

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Diagnostics
Original research
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Authors

  • Belen Garcia Genetic Counseling Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Hospital Universitari Germans Trias i Pujol, Badalona, Spain Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Nuria Catasus Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Andrea Ros Genetic Counseling Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Hospital Universitari Germans Trias i Pujol, Badalona, Spain Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Inma Rosas Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain Clinical Genomics Unit—Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Alejandro Negro Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain Clinical Genomics Unit—Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Mercedes Guerrero-Murillo Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain Clinical Genomics Unit—Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Ana Maria Valero Servicio de Genética, Hospital Universitario Ramon y Cajal, Madrid, Spain PubMed articlesGoogle scholar articles
  • Anna Duat-Rodriguez Neurology Service, Hospital Infantil Universitario Niño Jesús, Madrid, Spain PubMed articlesGoogle scholar articles
  • Juan Luis Becerra Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Sandra Bonache Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain Clinical Genomics Unit—Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Conxi Lázaro Garcia Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Madrid, Spain PubMed articlesGoogle scholar articles
  • Carmina Comas Department of Obstetrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Isabel Bielsa Dermatology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Eduard Serra Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Madrid, Spain Hereditary Cancer Group, Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Concepción Hernández-Chico Servicio de Genética, IRYCIS, Hospital Universitario Ramon y Cajal, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain PubMed articlesGoogle scholar articles
  • Yolanda Martin Servicio de Genética, IRYCIS, Hospital Universitario Ramon y Cajal, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain PubMed articlesGoogle scholar articles
  • Elisabeth Castellanos Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain Clinical Genomics Unit—Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  • Ignacio Blanco Genetic Counseling Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Hospital Universitari Germans Trias i Pujol, Badalona, Spain Clinical Genomics Research Unit, Foundation Institute of Research in Health Sciences Germans Trias i Pujol, Badalona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Elisabeth Castellanos, Clinical Genomics Unit - Genetics Service, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain; ecastellanos{at}igtp.cat
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Citation

Garcia B, Catasus N, Ros A, et al
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Journal of Medical Genetics 2022;59:1017-1023.

Publication history

  • Received October 30, 2021
  • Accepted January 9, 2022
  • First published February 4, 2022.
Online issue publication 
November 15, 2022

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