Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

Author:

Speedy Helen E.1,Kinnersley Ben1,Chubb Daniel1,Broderick Peter1,Law Philip J.1,Litchfield Kevin1,Jayne Sandrine2,Dyer Martin J. S.2,Dearden Claire3,Follows George A.4,Catovsky Daniel5,Houlston Richard S.15

Affiliation:

1. Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom;

2. Ernest and Helen Scott Haematological Research Institute, University of Leicester, Leicester, United Kingdom;

3. Department of Haemato-Oncology, The Royal Marsden National Health Service Foundation Trust, Sutton, United Kingdom;

4. Department of Haematology, Cambridge University Hospitals National Health Service Foundation Trust, Addenbrooke’s Hospital, Cambridge, United Kingdom; and

5. Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom

Abstract

Key Points Germ line loss-of-function mutations in shelterin genes occur in a subset of families with CLL. Telomere dysregulation is further implicated in CLL predisposition.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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