ArticleNature communications2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed
11.2field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
64 citing papers in PubMed, 115 citations in OpenAlex.
- Trial
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Article
- TNF-α signaling drives myeloid skewing and clonal expansion of stem and progenitor cells inHaematologica · 2026Article
- How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.Journal of clinical medicine · 2025Review
- Review
- Review
- Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.British journal of haematology · 2025Article
- An unconquered challenge in MDS: review of pathophysiology, clinical manifestations, and management options of MDS with thrombocytopenia.Annals of hematology · 2025Review
- The morphological spectrum of Castleman disease and related disorders: a report from the Lymphoma Workshop of the 22nd Meeting of the European Association of Hematopathology.Virchows Archiv : an international journal of pathology · 2025Review
- Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Article
- Review
- Genomic variant profiling in blast-phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations.British journal of haematology · 2025Article
- Review
- Endocervical adenocarcinoma with a micropapillary component: a clinicopathologic analysis in the setting of current WHO classification.Virchows Archiv : an international journal of pathology · 2025Article
- Article
- Targeting the CD74 signaling axis suppresses inflammation and rescues defective hematopoiesis inScience translational medicine · 2025Article
- Article
- Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.Haematologica · 2024Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
58 authors at 20 institutions in 14 countries.
Ana Rio-MachinCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK. a.rio-machin@qmul.ac.uk.ORCID http://orcid.org/0000-0001-6733-9752
Tom VulliamyCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK. t.vulliamy@qmul.ac.uk.
Nele HugMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Amanda WalneCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
Kiran TawanaDepartment of Haematology, Addenbrooke's Hospital, Cambridge, UK.
Shirleny CardosoCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
Alicia EllisonCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-8490-8512
Nikolas PontikosCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
Jun WangCentre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-2509-9599
Hemanth TummalaCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
Ahad Fahad H Al SeraihiCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Jenna AlnajarCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
Findlay Bewicke-CopleyCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-1292-7965
Hannah ArmesCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Michael BarnettThe Leukemia/BMT Program of British Columbia, Division of Hematology, Department of Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Adrian BloorDepartment of Haematology, Christie Hospital, Manchester, UK.
Csaba BödörMTA-SE Lendulet Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.ORCID http://orcid.org/0000-0002-0729-692X
David BowenDepartment of Haematology, St James's University Hospital, Leeds, UK.
Pierre FenauxService d'hématologie Séniors, Hôpital St Louis/Université Paris, Paris, France.
Andrew GreenNational Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
Andrew HallahanChildren's Health Queensland Hospital and Health Service, Queensland Children's Hospital, South Brisbane, QLD, Australia.
Henrik Hjorth-HansenDepartment of Hematology, St Olavs Hospital and Institute of Cancer Research and Molecular Medicine (IKM) Norwegian University of Science and Technology (NTNU), Trondheim, Norway.ORCID http://orcid.org/0000-0002-2670-5696
Upal HossainDepartment of Haematology, Whipps Cross Hospital, Barts NHS Trust, London, UK.
Sally KillickDepartment of Haematology, The Royal Bournemouth Hospital NHS Foundation Trust, Bournemouth, UK.
Sarah LawsonDepartment of Haematology, Birmingham Children's Hospital, Birmingham, UK.
Mark LaytonCentre for Haematology, Imperial College London, Hammersmith Hospital, London, UK.
Alison M MaleClinic Genetics Unit, Great Ormond Street Hospital, London, UK.
Judith MarshDepartment of Haematological Medicine, Haematology Institute, King's College Hospital, London, UK.
Priyanka MehtaBristol Haematology Unit, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Rogier MousUMC Utrecht Cancer Center, Universitair Medisch Centrum Utrecht, Huispostnummer, Utrecht, Netherlands.
Josep F NomdedéuLaboratori d´Hematologia, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0003-3399-346X
Carolyn OwenDivision of Hematology and Hematological Malignancies, Foothills Medical Centre, Calgary, AB, Canada.
Jiri PavluCentre for Haematology, Imperial College London, Hammersmith Hospital, London, UK.ORCID http://orcid.org/0000-0001-5219-5637
Elspeth M PayneDepartment of Haematology, UCL Cancer Institute, University College London, London, UK.ORCID http://orcid.org/0000-0001-5841-778X
Rachel E ProtheroeBristol Haematology Unit, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Claude PreudhommeLaboratory of Hematology, Biology and Pathology Center, Centre Hospitalier Regional Universitaire de Lille, Lille, France.
Nuria Pujol-MoixLaboratori d´Hematologia, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Aline RennevilleBroad Institute of Harvard and MIT, Cambridge, MA, USA.
Nigel RussellCentre for Clinical Haematology, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Anand SaggarClinical Genetics, St George's Hospital Medical School, London, UK.
Gabriela SciuccatiServicio de Hematologia y Oncologia, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Ciudad Autonoma de Buenos Aires, Argentina.
David TaussigHaemato-oncology Department, Royal Marsden Hospital, Sutton, UK.
Cynthia L TozeThe Leukemia/BMT Program of British Columbia, Division of Hematology, Department of Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Anne UyttebroeckDepartment of Hematology, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-5644-424X
Peter VandenbergheDepartment of Hematology, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0003-4719-1935
Brigitte SchlegelbergerInstitut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany.
Tim RippergerInstitut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany.
Doris SteinemannInstitut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany.ORCID http://orcid.org/0000-0001-8797-0816
John WuBritish Columbia Children's Hospital, Vancouver, BC, Canada.
Joanne MasonWest Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Paula PageWest Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Susanna AkikiDepartment of Laboratory Medicine & Pathology, Qatar Rehabilitation Institute, Hamad Bin Khalifa Medical City (HBKM), Doha, Qatar.
Kim ReayWest Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Jamie D CavenaghDepartment of Haematology, St Bartholomew's Hospital, Barts NHS Trust, London, UK.
Vincent PlagnolGenetics Institute, University College London, London, UK.ORCID http://orcid.org/0000-0002-5597-9215
Javier F CaceresMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-8025-6169
Jude FitzgibbonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK. j.fitzgibbon@qmul.ac.uk.
Inderjeet DokalCentre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK. i.dokal@qmul.ac.uk.
Queen Mary University of London · GBMedizinische Hochschule Hannover · DEHammersmith Hospital · GBInstitute of Genetics and Cancer · GBKU Leuven · BEUniversitat Autònoma de Barcelona · ESUniversity College London · GBUniversity Hospitals Bristol NHS Foundation Trust · GBUniversity of British Columbia · CAAddenbrooke's Hospital · GBBC Children's Hospital · CABirmingham Children's Hospital · GBBroad Institute · USChildren's Health Ireland at Crumlin · IEChildren’s Health Queensland Hospital and Health Service · AUFoothills Medical Centre · CAGarrahan Hospital · ARGreat Ormond Street Hospital · GBHamad bin Khalifa University · QAHôpital Saint-Louis · FR
Funding
Cancer Research UK 13371Cancer Research UK 16484Cancer Research UK 24873Medical Research Council MC_UU_00007/7Medical Research Council MR/M018830/1Medical Research Council MR/P018440/1
Abstract
The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%). Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutated in rare hematological syndromes (ADA, GP6, IL17RA, PRF1 and SEC23B), reported in prior MDS/AML or inherited bone marrow failure series (DNAH9, NAPRT1 and SH2B3) or variants at novel loci (DHX34) that appear specific to inherited forms of myeloid malignancies. Altogether, our series of MDS/AML families offer novel insights into the etiology of myeloid malignancies and provide a framework to prioritize variants for inclusion into routine diagnostics and patient management.
Indexed as
Germ-Line MutationAdaptor Proteins, Signal TransducingAdenosine DeaminaseAxonemal DyneinsCohort StudiesExome SequencingHumansLeukemia, Myeloid, AcuteMyelodysplastic SyndromesNonsense Mediated mRNA DecayPedigreePerforinPlatelet Membrane GlycoproteinsReceptors, Interleukin-17RNA HelicasesVesicular Transport ProteinsADA protein, humanAdaptor Proteins, Signal TransducingAdenosine DeaminaseAxonemal DyneinsDHX34 protein, humanDNAH9 protein, humanIL17RA protein, humanPerforinPlatelet Membrane Glycoproteinsplatelet membrane glycoprotein VIPRF1 protein, humanReceptors, Interleukin-17RNA HelicasesSEC23B protein, humanSH2B3 protein, humanVesicular Transport Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.