Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.

Cell Lineage / genetics Cell Self Renewal Checkpoint Kinase 2 / genetics Female Genetic Predisposition to Disease / genetics Hematopoietic Stem Cells / pathology Humans Leukocytes / pathology Male Myeloproliferative Disorders / genetics Neoplasms / genetics Proto-Oncogene Proteins / genetics Repressor Proteins / genetics Risk Telomere Homeostasis

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
10 2020
Historique:
received: 02 10 2019
accepted: 03 07 2020
pubmed: 16 10 2020
medline: 3 2 2021
entrez: 15 10 2020
Statut: ppublish

Résumé

Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers

Identifiants

DOI: 10.1038/s41586-020-2786-7 PMID: 33057200 PMC: PMC7606745
pubmed: 33057200
doi: 10.1038/s41586-020-2786-7
pii: 10.1038/s41586-020-2786-7
pmc: PMC7606745
mid: NIHMS1609342
doi:

Substances chimiques

GFI1B protein, human 0
Proto-Oncogene Proteins 0
Repressor Proteins 0
Checkpoint Kinase 2 EC 2.7.1.11
CHEK2 protein, human EC 2.7.11.1

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

769-775

Subventions

Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL146500
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK103794
Pays : United States
Organisme : Medical Research Council
ID : MR/M012816/1
Pays : United Kingdom
Organisme : NIH HHS
ID : DP5 OD029586
Pays : United States
Organisme : BLRD VA
ID : I01 BX004821
Pays : United States

Investigateurs

Aarno Palotie (A)
Mark Daly (M)
Howard Jacob (H)
Athena Matakidou (A)
Heiko Runz (H)
Sally John (S)
Robert Plenge (R)
Mark McCarthy (M)
Julie Hunkapiller (J)
Meg Ehm (M)
Dawn Waterworth (D)
Caroline Fox (C)
Anders Malarstig (A)
Kathy Klinger (K)
Kathy Call (K)
Tomi Mäkelä (T)
Jaakko Kaprio (J)
Petri Virolainen (P)
Kari Pulkki (K)
Terhi Kilpi (T)
Markus Perola (M)
Jukka Partanen (J)
Anne Pitkäranta (A)
Riitta Kaarteenaho (R)
Seppo Vainio (S)
Kimmo Savinainen (K)
Veli-Matti Kosma (VM)
Urho Kujala (U)
Outi Tuovila (O)
Minna Hendolin (M)
Raimo Pakkanen (R)
Jeff Waring (J)
Bridget Riley-Gillis (B)
Athena Matakidou (A)
Heiko Runz (H)
Jimmy Liu (J)
Shameek Biswas (S)
Julie Hunkapiller (J)
Dawn Waterworth (D)
Meg Ehm (M)
Dorothee Diogo (D)
Caroline Fox (C)
Anders Malarstig (A)
Catherine Marshall (C)
Xinli Hu (X)
Kathy Call (K)
Kathy Klinger (K)
Matthias Gossel (M)
Samuli Ripatti (S)
Johanna Schleutker (J)
Markus Perola (M)
Mikko Arvas (M)
Olli Carpén (O)
Reetta Hinttala (R)
Johannes Kettunen (J)
Reijo Laaksonen (R)
Arto Mannermaa (A)
Urho Kujala (U)
Outi Tuovila (O)
Minna Hendolin (M)
Raimo Pakkanen (R)
Hilkka Soininen (H)
Valtteri Julkunen (V)
Anne Remes (A)
Reetta Kälviäinen (R)
Mikko Hiltunen (M)
Jukka Peltola (J)
Pentti Tienari (P)
Juha Rinne (J)
Adam Ziemann (A)
Jeffrey Waring (J)
Sahar Esmaeeli (S)
Nizar Smaoui (N)
Anne Lehtonen (A)
Susan Eaton (S)
Heiko Runz (H)
Sanni Lahdenperä (S)
Janet van Adelsberg (J)
Shameek Biswas (S)
John Michon (J)
Geoff Kerchner (G)
Julie Hunkapiller (J)
Natalie Bowers (N)
Edmond Teng (E)
John Eicher (J)
Vinay Mehta (V)
Padhraig Gormley (P)
Kari Linden (K)
Christopher Whelan (C)
Fanli Xu (F)
David Pulford (D)
Martti Färkkilä (M)
Sampsa Pikkarainen (S)
Airi Jussila (A)
Timo Blomster (T)
Mikko Kiviniemi (M)
Markku Voutilainen (M)
Bob Georgantas (B)
Graham Heap (G)
Jeffrey Waring (J)
Nizar Smaoui (N)
Fedik Rahimov (F)
Anne Lehtonen (A)
Keith Usiskin (K)
Joseph Maranville (J)
Tim Lu (T)
Natalie Bowers (N)
Danny Oh (D)
John Michon (J)
Vinay Mehta (V)
Kirsi Kalpala (K)
Melissa Miller (M)
Xinli Hu (X)
Linda McCarthy (L)
Kari Eklund (K)
Antti Palomäki (A)
Pia Isomäki (P)
Laura Pirilä (L)
Oili Kaipiainen-Seppänen (O)
Johanna Huhtakangas (J)
Bob Georgantas (B)
Jeffrey Waring (J)
Fedik Rahimov (F)
Apinya Lertratanakul (A)
Nizar Smaoui (N)
Anne Lehtonen (A)
David Close (D)
Marla Hochfeld (M)
Natalie Bowers (N)
John Michon (J)
Dorothee Diogo (D)
Vinay Mehta (V)
Kirsi Kalpala (K)
Nan Bing (N)
Xinli Hu (X)
Jorge Esparza Gordillo (JE)
Nina Mars (N)
Tarja Laitinen (T)
Margit Pelkonen (M)
Paula Kauppi (P)
Hannu Kankaanranta (H)
Terttu Harju (T)
Nizar Smaoui (N)
David Close (D)
Steven Greenberg (S)
Hubert Chen (H)
Natalie Bowers (N)
John Michon (J)
Vinay Mehta (V)
Jo Betts (J)
Soumitra Ghosh (S)
Veikko Salomaa (V)
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Markus Juonala (M)
Kaj Metsärinne (K)
Mika Kähönen (M)
Juhani Junttila (J)
Markku Laakso (M)
Jussi Pihlajamäki (J)
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Tiinamaija Tuomi (T)
Jari Laukkanen (J)
Ben Challis (B)
Andrew Peterson (A)
Julie Hunkapiller (J)
Natalie Bowers (N)
John Michon (J)
Dorothee Diogo (D)
Audrey Chu (A)
Vinay Mehta (V)
Jaakko Parkkinen (J)
Melissa Miller (M)
Anthony Muslin (A)
Dawn Waterworth (D)
Heikki Joensuu (H)
Tuomo Meretoja (T)
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Lauri Aaltonen (L)
Annika Auranen (A)
Peeter Karihtala (P)
Saila Kauppila (S)
Päivi Auvinen (P)
Klaus Elenius (K)
Relja Popovic (R)
Jeffrey Waring (J)
Bridget Riley-Gillis (B)
Anne Lehtonen (A)
Athena Matakidou (A)
Jennifer Schutzman (J)
Julie Hunkapiller (J)
Natalie Bowers (N)
John Michon (J)
Vinay Mehta (V)
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Aparna Chhibber (A)
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Nina Hautala (N)
Heiko Runz (H)
Erich Strauss (E)
Natalie Bowers (N)
Hao Chen (H)
John Michon (J)
Anna Podgornaia (A)
Vinay Mehta (V)
Dorothee Diogo (D)
Joshua Hoffman (J)
Kaisa Tasanen (K)
Laura Huilaja (L)
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Teea Salmi (T)
Sirkku Peltonen (S)
Leena Koulu (L)
Ilkka Harvima (I)
Kirsi Kalpala (K)
Ying Wu (Y)
David Choy (D)
John Michon (J)
Nizar Smaoui (N)
Fedik Rahimov (F)
Anne Lehtonen (A)
Dawn Waterworth (D)
Justin Wade Davis (JW)
Bridget Riley-Gillis (B)
Danjuma Quarless (D)
Slavé Petrovski (S)
Jimmy Liu (J)
Chia-Yen Chen (CY)
Paola Bronson (P)
Robert Yang (R)
Joseph Maranville (J)
Shameek Biswas (S)
Diana Chang (D)
Julie Hunkapiller (J)
Tushar Bhangale (T)
Natalie Bowers (N)
Dorothee Diogo (D)
Emily Holzinger (E)
Padhraig Gormley (P)
Xulong Wang (X)
Xing Chen (X)
Åsa Hedman (Å)
Kirsi Auro (K)
Clarence Wang (C)
Ethan Xu (E)
Franck Auge (F)
Clement Chatelain (C)
Mitja Kurki (M)
Samuli Ripatti (S)
Mark Daly (M)
Juha Karjalainen (J)
Aki Havulinna (A)
Anu Jalanko (A)
Kimmo Palin (K)
Priit Palta (P)
Pietro Della Briotta Parolo (P)
Wei Zhou (W)
Susanna Lemmelä (S)
Manuel Rivas (M)
Jarmo Harju (J)
Aarno Palotie (A)
Arto Lehisto (A)
Andrea Ganna (A)
Vincent Llorens (V)
Antti Karlsson (A)
Kati Kristiansson (K)
Mikko Arvas (M)
Kati Hyvärinen (K)
Jarmo Ritari (J)
Tiina Wahlfors (T)
Miika Koskinen (M)
Olli Carpén (O)
Johannes Kettunen (J)
Katri Pylkäs (K)
Marita Kalaoja (M)
Minna Karjalainen (M)
Tuomo Mantere (T)
Eeva Kangasniemi (E)
Sami Heikkinen (S)
Arto Mannermaa (A)
Eija Laakkonen (E)
Juha Kononen (J)
Lila Kallio (L)
Sirpa Soini (S)
Jukka Partanen (J)
Kimmo Pitkänen (K)
Seppo Vainio (S)
Kimmo Savinainen (K)
Veli-Matti Kosma (VM)
Teijo Kuopio (T)
Anu Jalanko (A)
Risto Kajanne (R)
Ulrike Lyhs (U)
Mitja Kurki (M)
Juha Karjalainen (J)
Pietro Della Briotta Parola (P)
Sina Rüeger (S)
Arto Lehistö (A)
Wei Zhou (W)
Masahiro Kanai (M)
Hannele Laivuori (H)
Aki Havulinna (A)
Susanna Lemmelä (S)
Tuomo Kiiskinen (T)
Mari Kaunisto (M)
Jarmo Harju (J)
Elina Kilpeläinen (E)
Timo P Sipilä (TP)
Georg Brein (G)
Oluwaseun A Dada (OA)
Ghazal Awaisa (G)
Anastasia Shcherban (A)
Tuomas Sipilä (T)
Kati Donner (K)
Anu Loukola (A)
Päivi Laiho (P)
Tuuli Sistonen (T)
Essi Kaiharju (E)
Markku Laukkanen (M)
Elina Järvensivu (E)
Sini Lähteenmäki (S)
Lotta Männikkö (L)
Regis Wong (R)
Hannele Mattsson (H)
Kati Kristiansson (K)
Susanna Lemmelä (S)
Tero Hiekkalinna (T)
Manuel González Jiménez (MG)
Priit Palta (P)
Kalle Pärn (K)
Javier Nunez-Fontarnau (J)
Tarja Laitinen (T)
Harri Siirtola (H)
Javier Gracia Tabuenca (JG)
Michelle Agee (M)
Babak Alipanahi (B)
Adam Auton (A)
Robert K Bell (RK)
Katarzyna Bryc (K)
Sarah L Elson (SL)
Pierre Fontanillas (P)
Nicholas A Furlotte (NA)
David A Hinds (DA)
Karen E Huber (KE)
Aaron Kleinman (A)
Nadia K Litterman (NK)
Jennifer C McCreight (JC)
Matthew H McIntyre (MH)
Joanna L Mountain (JL)
Elizabeth S Noblin (ES)
Carrie A M Northover (CAM)
Steven J Pitts (SJ)
J Fah Sathirapongsasuti (JF)
Olga V Sazonova (OV)
Janie F Shelton (JF)
Suyash Shringarpure (S)
Chao Tian (C)
Joyce Y Tung (JY)
Vladimir Vacic (V)
Catherine H Wilson (CH)

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Auteurs

Erik L Bao (EL)

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-6074-6766

Satish K Nandakumar (SK)

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Xiaotian Liao (X)

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
ORCID: 0000-0002-9715-270X

Alexander G Bick (AG)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
VA Boston Healthcare, Section of Cardiology, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.

Juha Karjalainen (J)

Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.

Marcin Tabaka (M)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Olga I Gan (OI)

Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

Aki S Havulinna (AS)

Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.

Tuomo T J Kiiskinen (TTJ)

Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
ORCID: 0000-0002-6306-8227

Caleb A Lareau (CA)

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-4179-4807

Aitzkoa L de Lapuente Portilla (AL)

Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden.

Bo Li (B)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Immunology and Inflammatory Diseases, Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0003-0668-1620

Connor Emdin (C)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0002-2385-8259

Veryan Codd (V)

Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, UK.
National Institute for Health Research (NIHR) Leicester Biomedical Centre, Glenfield Hospital, Leicester, UK.

Christopher P Nelson (CP)

Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, UK.
National Institute for Health Research (NIHR) Leicester Biomedical Centre, Glenfield Hospital, Leicester, UK.
ORCID: 0000-0001-8025-2897

Christopher J Walker (CJ)

Department of Cancer Biology and Genetics, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.

Claire Churchhouse (C)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Albert de la Chapelle (A)

Department of Cancer Biology and Genetics, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
ORCID: 0000-0001-9345-9248

Daryl E Klein (DE)

Department of Pharmacology, Cancer Biology Institute, Yale University School of Medicine, West Haven, CT, USA.

Björn Nilsson (B)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden.

Peter W F Wilson (PWF)

Atlanta VA Medical Center, Atlanta, GA, USA.
Emory Clinical Cardiovascular Research Institute, Atlanta, GA, USA.

Kelly Cho (K)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Saiju Pyarajan (S)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.

J Michael Gaziano (JM)

Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Nilesh J Samani (NJ)

Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, UK.
National Institute for Health Research (NIHR) Leicester Biomedical Centre, Glenfield Hospital, Leicester, UK.

Aviv Regev (A)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Department of Biology, Koch Institute, Massachusetts Institute of Technology, Cambridge, MA, USA.
ORCID: 0000-0003-3293-3158

Aarno Palotie (A)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.

Benjamin M Neale (BM)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
ORCID: 0000-0003-1513-6077

John E Dick (JE)

Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

Pradeep Natarajan (P)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0001-8402-7435

Christopher J O'Donnell (CJ)

VA Boston Healthcare, Section of Cardiology, Boston, MA, USA.
Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Mark J Daly (MJ)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.

Michael Milyavsky (M)

Department of Pathology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Sekar Kathiresan (S)

Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Verve Therapeutics, Cambridge, MA, USA.
ORCID: 0000-0002-6724-032X

Vijay G Sankaran (VG)

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. sankaran@broadinstitute.org.
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. sankaran@broadinstitute.org.
Broad Institute of MIT and Harvard, Cambridge, MA, USA. sankaran@broadinstitute.org.
Harvard Stem Cell Institute, Cambridge, MA, USA. sankaran@broadinstitute.org.
ORCID: 0000-0003-0044-443X

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Développement embryonnaire et foetal › Développement embryonnaire › Lignage cellulaire › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Croissance › Processus de croissance cellulaire › Prolifération cellulaire › Division cellulaire › Auto-renouvellement cellulaire › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Checkpoint kinase 2 › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système hématopoïétique › Cellules de la moelle osseuse › Cellules souches hématopoïétiques › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myéloprolifératifs › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Tumeurs › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Inherited myeloproliferative neoplasm risk...
questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Croissance › Processus de croissance cellulaire › Prolifération cellulaire › Division cellulaire › Homéostasie des télomères › Inherited myeloproliferative neoplasm risk...