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Science. 2018 Feb 23;359(6378):926-930. doi: 10.1126/science.aar3247. Epub 2018 Jan 18.

Detection and localization of surgically resectable cancers with a multi-analyte blood test.

Cohen JD1,2,3,4,5, Li L6, Wang Y1,2,3,4, Thoburn C3, Afsari B7, Danilova L7, Douville C1,2,3,4, Javed AA8, Wong F1,3,4, Mattox A1,2,3,4, Hruban RH3,4,9, Wolfgang CL8, Goggins MG3,4,9,10,11, Dal Molin M4, Wang TL3,9, Roden R3,9, Klein AP3,4,12, Ptak J1,2,3,4, Dobbyn L1,3,4, Schaefer J1,3,4, Silliman N1,2,3,4, Popoli M1,3,4, Vogelstein JT13, Browne JD14, Schoen RE15,16, Brand RE15, Tie J17,18,19,20, Gibbs P17,18,19,20, Wong HL17, Mansfield AS21, Jen J22, Hanash SM23, Falconi M24, Allen PJ25, Zhou S1,3,4, Bettegowda C1,3,4, Diaz LA Jr1,3,4, Tomasetti C26,6,7, Kinzler KW27,3,4, Vogelstein B27,2,3,4, Lennon AM26,4,8,10,11, Papadopoulos N27,3,4.

Author information

1
Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
2
Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
3
Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
4
Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
5
Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
6
Department of Biostatistics, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD 21205, USA.
7
Division of Biostatistics and Bioinformatics, Department of Oncology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.
8
Department of Surgery, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.
9
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.
10
Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.
11
Department of Oncology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.
12
Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD 21205, USA.
13
Institute for Computational Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
14
Department of Computer Science, Johns Hopkins University Whiting School of Engineering, Baltimore, MD 21218, USA.
15
Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA.
16
Department of Epidemiology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
17
Division of Systems Biology and Personalized Medicine, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3021, Australia.
18
Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC 3010, Australia.
19
Department of Medical Oncology, Western Health, Melbourne, VIC 3021, Australia.
20
Department of Medical Oncology, Peter MacCallum Cancer Center, Melbourne, VIC 3000, Australia.
21
Division of Medical Oncology, Department of Oncology, Mayo Clinic, Rochester, MN 55902, USA.
22
Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA.
23
Sheikh Ahmed Center for Pancreatic Cancer Research, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
24
Division of Pancreatic Surgery, Department of Surgery, San Raffaele Scientific Institute Research Hospital, 20132 Milan, Italy.
25
Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.
26
Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. ctomasetti@jhu.edu amlennon@jhmi.edu kinzlke@jhmi.edu bertvog@gmail.com npapado1@jhmi.edu.
27
Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. ctomasetti@jhu.edu amlennon@jhmi.edu kinzlke@jhmi.edu bertvog@gmail.com npapado1@jhmi.edu.

Abstract

Earlier detection is key to reducing cancer deaths. Here, we describe a blood test that can detect eight common cancer types through assessment of the levels of circulating proteins and mutations in cell-free DNA. We applied this test, called CancerSEEK, to 1005 patients with nonmetastatic, clinically detected cancers of the ovary, liver, stomach, pancreas, esophagus, colorectum, lung, or breast. CancerSEEK tests were positive in a median of 70% of the eight cancer types. The sensitivities ranged from 69 to 98% for the detection of five cancer types (ovary, liver, stomach, pancreas, and esophagus) for which there are no screening tests available for average-risk individuals. The specificity of CancerSEEK was greater than 99%: only 7 of 812 healthy controls scored positive. In addition, CancerSEEK localized the cancer to a small number of anatomic sites in a median of 83% of the patients.

PMID:
29348365
PMCID:
PMC6080308
DOI:
10.1126/science.aar3247
[Indexed for MEDLINE]
Free PMC Article

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