作者
Jacob J Chabon, Emily G Hamilton, David M Kurtz, Mohammad S Esfahani, Everett J Moding, Henning Stehr, Joseph Schroers-Martin, Barzin Y Nabet, Binbin Chen, Aadel A Chaudhuri, Chih Long Liu, Angela B Hui, Michael C Jin, Tej D Azad, Diego Almanza, Young-Jun Jeon, Monica C Nesselbush, Lyron Co Ting Keh, Rene F Bonilla, Christopher H Yoo, Ryan B Ko, Emily L Chen, David J Merriott, Pierre P Massion, Aaron S Mansfield, Jin Jen, Hong Z Ren, Steven H Lin, Christina L Costantino, Risa Burr, Robert Tibshirani, Sanjiv S Gambhir, Gerald J Berry, Kristin C Jensen, Robert B West, Joel W Neal, Heather A Wakelee, Billy W Loo Jr, Christian A Kunder, Ann N Leung, Natalie S Lui, Mark F Berry, Joseph B Shrager, Viswam S Nair, Daniel A Haber, Lecia V Sequist, Ash A Alizadeh, Maximilian Diehn
发表日期
2020/4/9
期刊
Nature
卷号
580
期号
7802
页码范围
245-251
出版商
Nature Publishing Group UK
简介
Radiologic screening of high-risk adults reduces lung-cancer-related mortality,; however, a small minority of eligible individuals undergo such screening in the United States,. The availability of blood-based tests could increase screening uptake. Here we introduce improvements to cancer personalized profiling by deep sequencing (CAPP-Seq), a method for the analysis of circulating tumour DNA (ctDNA), to better facilitate screening applications. We show that, although levels are very low in early-stage lung cancers, ctDNA is present prior to treatment in most patients and its presence is strongly prognostic. We also find that the majority of somatic mutations in the cell-free DNA (cfDNA) of patients with lung cancer and of risk-matched controls reflect clonal haematopoiesis and are non-recurrent. Compared with tumour-derived mutations, clonal haematopoiesis mutations occur on longer cfDNA fragments and lack …
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