作者
Giulio Genovese, Anna K Kähler, Robert E Handsaker, Johan Lindberg, Samuel A Rose, Samuel F Bakhoum, Kimberly Chambert, Eran Mick, Benjamin M Neale, Menachem Fromer, Shaun M Purcell, Oscar Svantesson, Mikael Landén, Martin Höglund, Sören Lehmann, Stacey B Gabriel, Jennifer L Moran, Eric S Lander, Patrick F Sullivan, Pamela Sklar, Henrik Grönberg, Christina M Hultman, Steven A McCarroll
发表日期
2014/12/25
期刊
New England Journal of Medicine
卷号
371
期号
26
页码范围
2477-2487
出版商
Massachusetts Medical Society
简介
Background
Cancers arise from multiple acquired mutations, which presumably occur over many years. Early stages in cancer development might be present years before cancers become clinically apparent.
Methods
We analyzed data from whole-exome sequencing of DNA in peripheral-blood cells from 12,380 persons, unselected for cancer or hematologic phenotypes. We identified somatic mutations on the basis of unusual allelic fractions. We used data from Swedish national patient registers to follow health outcomes for 2 to 7 years after DNA sampling.
Results
Clonal hematopoiesis with somatic mutations was observed in 10% of persons older than 65 years of age but in only 1% of those younger than 50 years of age. Detectable clonal expansions most frequently involved somatic mutations in three genes (DNMT3A, ASXL1, and TET2) that have previously been implicated in hematologic cancers. Clonal …
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G Genovese, AK Kähler, RE Handsaker, J Lindberg… - New England Journal of Medicine, 2014