Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Ian M Frayling; Victor-Felix Mautner; Rick van Minkelen; Roope A Kallionpaa; Safiye Aktaş; Diana Baralle; Shay Ben-Shachar; Alison Callaway; Harriet Cox; Diana M Eccles; Salah Ferkal; Holly LaDuca; Conxi Lázaro; Mark T Rogers; Aaron J Stuenkel; Pia Summerour; Ali Varan; Yoon Sim Yap; Ouidad Zehou; Juha Peltonen; D Gareth Evans; Pierre Wolkenstein; Meena Upadhyaya

doi:10.1136/jmedgenet-2018-105599

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Cancer genetics

Original article

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

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Ian M Frayling Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, Cardiff University, Cardiff, UK All-Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK PubMed articles Google scholar articles
Victor-Felix Mautner Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany PubMed articles Google scholar articles
Rick van Minkelen Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands PubMed articles Google scholar articles
Roope A Kallionpaa Department of Cell Biology and Anatomy, Turun Yliopisto, Turku, Finland PubMed articles Google scholar articles
Safiye Aktaş Dokuz Eylül Üniversitesi, Izmir, Turkey PubMed articles Google scholar articles
Diana Baralle Faculty of Medicine, University of Southampton, Southampton, UK PubMed articles Google scholar articles
Shay Ben-Shachar The Genetic Institute, Tel-Aviv Sourasky Medical Center, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel PubMed articles Google scholar articles
Alison Callaway Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK PubMed articles Google scholar articles
Harriet Cox Institute of Cancer and Genetics, Cardiff University, Cardiff, UK PubMed articles Google scholar articles
Diana M Eccles Faculty of Medicine, University of Southampton, Southampton, UK PubMed articles Google scholar articles
Salah Ferkal Service de Santé Publique, Hôpital Henri Mondor, Créteil, France PubMed articles Google scholar articles
Holly LaDuca Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Conxi Lázaro Hereditary Cancer Program, Institut Català d’Oncologia, L’Hospitalet de Llobregat, Spain PubMed articles Google scholar articles
Mark T Rogers Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, Cardiff University, Cardiff, UK All-Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK PubMed articles Google scholar articles
Aaron J Stuenkel Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Pia Summerour Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Ali Varan Hacettepe Universitesi Onkoloji Enstitusu, Ankara, Turkey PubMed articles Google scholar articles
Yoon Sim Yap Department of Medical Oncology, National Cancer Centre Singapore, Singapore PubMed articles Google scholar articles
Ouidad Zehou Hôpital Henri Mondor, APHP University Paris Est Créteil, Créteil, France PubMed articles Google scholar articles
Juha Peltonen Department of Cell Biology and Anatomy, Turun Yliopisto, Turku, Finland PubMed articles Google scholar articles
D Gareth Evans Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK PubMed articles Google scholar articles
Pierre Wolkenstein Immunity Transplantation Infections, Hôpital Henri Mondor, APHP University Paris Est Créteil, Créteil, France PubMed articles Google scholar articles
Meena Upadhyaya Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, Cardiff University, Cardiff, UK PubMed articles Google scholar articles

Correspondence to Dr Ian M Frayling, Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; FraylingIM{at}cardiff.ac.uk

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Citation

Frayling IM, Mautner V, van Minkelen R, et al

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Journal of Medical Genetics 2019;56:209-219.

Publication history

Received July 17, 2018
Revised October 30, 2018
Accepted November 15, 2018
First published December 10, 2018.

Online issue publication

March 22, 2019

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