SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage-Reference-Cited by-同舟云学术

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

Published:2014-02-13 Issue:7 Volume:123 Page:1021-1031
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Clifford Ruth¹,Louis Tania²,Robbe Pauline¹,Ackroyd Sam³,Burns Adam¹,Timbs Adele T.¹,Wright Colopy Glen¹,Dreau Helene¹,Sigaux Francois⁴,Judde Jean Gabriel⁵,Rotger Margalida⁶,Telenti Amalio⁶,Lin Yea-Lih²,Pasero Philippe²,Maelfait Jonathan⁷,Titsias Michalis⁸,Cohen Dena R.⁹,Henderson Shirley J.¹,Ross Mark T.¹⁰,Bentley David¹⁰,Hillmen Peter¹¹,Pettitt Andrew¹²,Rehwinkel Jan⁷,Knight Samantha J. L.¹³,Taylor Jenny C.¹³,Crow Yanick J.¹⁴,Benkirane Monsef²,Schuh Anna¹

Affiliation:

1. Oxford National Institute for Health Research Biomedical Research Centre/Molecular Diagnostic Centre, University of Oxford, Oxford, United Kingdom;

2. Institut de Génétique Humaine, Centre National de la Recherche Scientifique-Unités Propres de Recherche 1142, Montpellier, France;

3. Clinical Haematology, Bradford Teaching Hospitals, National Health Service Foundation Trust, Bradford, United Kingdom;

4. Laboratory of Molecular Hematology, Institut National de la Santé et de la Recherche Médicale U462, Centre Hayem, Hopital Saint Louis, Paris, France;

5. Xentech SAS, Genopole, Evry, France;

6. Institute of Microbiology, University Hospital Center and University of Lausanne, Lausanne, Switzerland;

7. Medical Research Council Human Immunology Unit, Radcliffe Department of Medicine, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom;

8. Athens University of Economics and Business, Athens, Greece;

9. Leeds Institute of Clinical Trials Research, University of Leeds, Leeds, United Kingdom;

10. Illumina Cambridge Ltd., Saffron Walden, United Kingdom;

11. St. James’ Institute of Oncology, Leeds, United Kingdom;

12. Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, United Kingdom;

13. Oxford National Institute for Health Research Biomedical Research Centre and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; and

14. Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom

Abstract

Key Points Acquired pathogenic mutations in SAMHD1 are found in up to 11% of relapsed/refractory patients with CLL. SAMHD1 is mobilized to sites of DNA damage.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/7/1021/538054/1021.pdf

Reference46 articles.

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2. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.;Quesada;Nat Genet,2012

3. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia.;Wang;N Engl J Med,2011

4. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.;Puente;Nature,2011

5. Evolution and impact of subclonal mutations in chronic lymphocytic leukemia.;Landau;Cell,2013

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