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Blood Cancer Discov. 2021 Sep;2(5):500-517. doi: 10.1158/2643-3230.BCD-20-0224. Epub 2021 Jul 14.

[No title available]

Blood cancer discovery

Ellen M Beauchamp, Matthew Leventhal, Elsa Bernard, Emma R Hoppe, Gabriele Todisco, Maria Creignou, Anna Gallì, Cecilia A Castellano, Marie McConkey, Akansha Tarun, Waihay Wong, Monica Schenone, Caroline Stanclift, Benjamin Tanenbaum, Edyta Malolepsza, Björn Nilsson, Alexander G Bick, Joshua S Weinstock, Mendy Miller, Abhishek Niroula, Andrew Dunford, Amaro Taylor-Weiner, Timothy Wood, Alex Barbera, Shankara Anand, Bruce M Psaty, Pinkal Desai, Michael H Cho, Andrew D Johnson, Ruth Loos, Daniel G MacArthur, Monkol Lek, Donna S Neuberg, Kasper Lage, Steven A Carr, Eva Hellstrom-Lindberg, Luca Malcovati, Elli Papaemmanuil, Chip Stewart, Gad Getz, Robert K Bradley, Siddhartha Jaiswal, Benjamin L Ebert

Affiliations

  1. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.
  2. Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts.
  3. Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
  4. Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
  5. Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
  6. Department of Genome Sciences, University of Washington, Seattle, Washington.
  7. Department of Molecular Medicine, University of Pavia, and Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  8. Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
  9. Department of Laboratory Medicine, Lund University, Lund, Sweden.
  10. Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.
  11. Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
  12. Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan.
  13. Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, Washington.
  14. Kaiser Permanente Washington Health Research Institute, Seattle, Washington.
  15. Division of Hematology and Oncology, Weill Cornell Medical College, New York, New York.
  16. Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
  17. Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
  18. National Heart, Lung, and Blood Institute Center for Population Studies, the Framingham Heart Study, Framingham, Massachusetts.
  19. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
  20. The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  21. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
  22. Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.
  23. Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  24. Department of Genetics, Yale School of Medicine, New Haven, Connecticut.
  25. Department of Data Science, Dana-Farber Cancer Institute, Boston, Massachusetts.
  26. Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts.
  27. Center for Cancer Research, Massachusetts General Hospital, Boston, Massachusetts.
  28. Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
  29. Department of Pathology, Stanford University School of Medicine, Stanford, California. [email protected] [email protected].
  30. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts. [email protected] [email protected].
  31. Howard Hughes Medical Institute, Dana-Farber Cancer Institute, Boston, Massachusetts.

PMID: 34568833 PMCID: PMC8462124 DOI: 10.1158/2643-3230.BCD-20-0224

Abstract

Clonal hematopoiesis results from somatic mutations in cancer driver genes in hematopoietic stem cells. We sought to identify novel drivers of clonal expansion using an unbiased analysis of sequencing data from 84,683 persons and identified common mutations in the 5-methylcytosine reader,

Keywords: clonal hematopoiesis; hematologic malignancies; hematopoietic stem cells; myeloid neoplasia; somatic driver gene discovery

Conflict of interest statement

Conflict of Interest statement: B.L.E. has received research funding from Celgene and Deerfield. He has received consulting fees from GRAIL, and he serves on the scientific advisory boards for and hol

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