Nature Communications (Feb 2020)
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
- Ana Rio-Machin,
- Tom Vulliamy,
- Nele Hug,
- Amanda Walne,
- Kiran Tawana,
- Shirleny Cardoso,
- Alicia Ellison,
- Nikolas Pontikos,
- Jun Wang,
- Hemanth Tummala,
- Ahad Fahad H. Al Seraihi,
- Jenna Alnajar,
- Findlay Bewicke-Copley,
- Hannah Armes,
- Michael Barnett,
- Adrian Bloor,
- Csaba Bödör,
- David Bowen,
- Pierre Fenaux,
- Andrew Green,
- Andrew Hallahan,
- Henrik Hjorth-Hansen,
- Upal Hossain,
- Sally Killick,
- Sarah Lawson,
- Mark Layton,
- Alison M. Male,
- Judith Marsh,
- Priyanka Mehta,
- Rogier Mous,
- Josep F. Nomdedéu,
- Carolyn Owen,
- Jiri Pavlu,
- Elspeth M. Payne,
- Rachel E. Protheroe,
- Claude Preudhomme,
- Nuria Pujol-Moix,
- Aline Renneville,
- Nigel Russell,
- Anand Saggar,
- Gabriela Sciuccati,
- David Taussig,
- Cynthia L. Toze,
- Anne Uyttebroeck,
- Peter Vandenberghe,
- Brigitte Schlegelberger,
- Tim Ripperger,
- Doris Steinemann,
- John Wu,
- Joanne Mason,
- Paula Page,
- Susanna Akiki,
- Kim Reay,
- Jamie D. Cavenagh,
- Vincent Plagnol,
- Javier F. Caceres,
- Jude Fitzgibbon,
- Inderjeet Dokal
Affiliations
- Ana Rio-Machin
- Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London
- Tom Vulliamy
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Nele Hug
- MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
- Amanda Walne
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Kiran Tawana
- Department of Haematology, Addenbrooke’s Hospital
- Shirleny Cardoso
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Alicia Ellison
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Nikolas Pontikos
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Jun Wang
- Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London
- Hemanth Tummala
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Ahad Fahad H. Al Seraihi
- Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London
- Jenna Alnajar
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- Findlay Bewicke-Copley
- Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London
- Hannah Armes
- Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London
- Michael Barnett
- The Leukemia/BMT Program of British Columbia, Division of Hematology, Department of Medicine, Faculty of Medicine, University of British Columbia
- Adrian Bloor
- Department of Haematology, Christie Hospital
- Csaba Bödör
- MTA-SE Lendulet Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University
- David Bowen
- Department of Haematology, St James’s University Hospital
- Pierre Fenaux
- Service d’hématologie Séniors, Hôpital St Louis/Université Paris
- Andrew Green
- National Centre for Medical Genetics, Our Lady’s Children’s Hospital
- Andrew Hallahan
- Children’s Health Queensland Hospital and Health Service, Queensland Children’s Hospital
- Henrik Hjorth-Hansen
- Department of Hematology, St Olavs Hospital and Institute of Cancer Research and Molecular Medicine (IKM) Norwegian University of Science and Technology (NTNU)
- Upal Hossain
- Department of Haematology, Whipps Cross Hospital, Barts NHS Trust
- Sally Killick
- Department of Haematology, The Royal Bournemouth Hospital NHS Foundation Trust
- Sarah Lawson
- Department of Haematology, Birmingham Children’s Hospital
- Mark Layton
- Centre for Haematology, Imperial College London, Hammersmith Hospital
- Alison M. Male
- Clinic Genetics Unit, Great Ormond Street Hospital
- Judith Marsh
- Department of Haematological Medicine, Haematology Institute, King’s College Hospital
- Priyanka Mehta
- Bristol Haematology Unit, University Hospitals Bristol NHS Foundation Trust
- Rogier Mous
- UMC Utrecht Cancer Center, Universitair Medisch Centrum Utrecht, Huispostnummer
- Josep F. Nomdedéu
- Laboratori d´Hematologia, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona
- Carolyn Owen
- Division of Hematology and Hematological Malignancies, Foothills Medical Centre
- Jiri Pavlu
- Centre for Haematology, Imperial College London, Hammersmith Hospital
- Elspeth M. Payne
- Department of Haematology, UCL Cancer Institute, University College London
- Rachel E. Protheroe
- Bristol Haematology Unit, University Hospitals Bristol NHS Foundation Trust
- Claude Preudhomme
- Laboratory of Hematology, Biology and Pathology Center, Centre Hospitalier Regional Universitaire de Lille
- Nuria Pujol-Moix
- Laboratori d´Hematologia, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona
- Aline Renneville
- Broad Institute of Harvard and MIT
- Nigel Russell
- Centre for Clinical Haematology, Nottingham University Hospitals NHS Trust
- Anand Saggar
- Clinical Genetics, St George’s Hospital Medical School
- Gabriela Sciuccati
- Servicio de Hematologia y Oncologia, Hospital de Pediatría “Prof. Dr. Juan P. Garrahan”
- David Taussig
- Haemato-oncology Department, Royal Marsden Hospital
- Cynthia L. Toze
- The Leukemia/BMT Program of British Columbia, Division of Hematology, Department of Medicine, Faculty of Medicine, University of British Columbia
- Anne Uyttebroeck
- Department of Hematology, University Hospitals Leuven
- Peter Vandenberghe
- Department of Hematology, University Hospitals Leuven
- Brigitte Schlegelberger
- Institut für Humangenetik, Medizinische Hochschule Hannover
- Tim Ripperger
- Institut für Humangenetik, Medizinische Hochschule Hannover
- Doris Steinemann
- Institut für Humangenetik, Medizinische Hochschule Hannover
- John Wu
- British Columbia Children’s Hospital
- Joanne Mason
- West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust
- Paula Page
- West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust
- Susanna Akiki
- Department of Laboratory Medicine & Pathology, Qatar Rehabilitation Institute, Hamad Bin Khalifa Medical City (HBKM)
- Kim Reay
- West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust
- Jamie D. Cavenagh
- Department of Haematology, St Bartholomew’s Hospital, Barts NHS Trust
- Vincent Plagnol
- Genetics Institute, University College London
- Javier F. Caceres
- MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
- Jude Fitzgibbon
- Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London
- Inderjeet Dokal
- Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London
- DOI
- https://doi.org/10.1038/s41467-020-14829-5
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 12
Abstract
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.
