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

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

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