Authors
Siddhartha Jaiswal, Pierre Fontanillas, Jason Flannick, Alisa Manning, Peter V Grauman, Brenton G Mar, R Coleman Lindsley, Craig H Mermel, Noel Burtt, Alejandro Chavez, John M Higgins, Vladislav Moltchanov, Frank C Kuo, Michael J Kluk, Brian Henderson, Leena Kinnunen, Heikki A Koistinen, Claes Ladenvall, Gad Getz, Adolfo Correa, Benjamin F Banahan, Stacey Gabriel, Sekar Kathiresan, Heather M Stringham, Mark I McCarthy, Michael Boehnke, Jaakko Tuomilehto, Christopher Haiman, Leif Groop, Gil Atzmon, James G Wilson, Donna Neuberg, David Altshuler, Benjamin L Ebert
Publication date
2014/12/25
Journal
New England Journal of Medicine
Volume
371
Issue
26
Pages
2488-2498
Publisher
Massachusetts Medical Society
Description
Background
The incidence of hematologic cancers increases with age. These cancers are associated with recurrent somatic mutations in specific genes. We hypothesized that such mutations would be detectable in the blood of some persons who are not known to have hematologic disorders.
Methods
We analyzed whole-exome sequencing data from DNA in the peripheral-blood cells of 17,182 persons who were unselected for hematologic phenotypes. We looked for somatic mutations by identifying previously characterized single-nucleotide variants and small insertions or deletions in 160 genes that are recurrently mutated in hematologic cancers. The presence of mutations was analyzed for an association with hematologic phenotypes, survival, and cardiovascular events.
Results
Detectable somatic mutations were rare in persons younger than 40 years of age but rose appreciably in frequency with age …
Scholar articles
S Jaiswal, P Fontanillas, J Flannick, A Manning… - New England Journal of Medicine, 2014