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Mutation detection using plasma circulating tumor DNA (ctDNA) in a cohort of asymptomatic adults at increased risk for cancer.

Overview of attention for article published in International Journal of Molecular Epidemiology and Genetics, January 2018
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Title
Mutation detection using plasma circulating tumor DNA (ctDNA) in a cohort of asymptomatic adults at increased risk for cancer.
Published in
International Journal of Molecular Epidemiology and Genetics, January 2018
Pubmed ID
Authors

Kammesheidt, Anja, Tonozzi, Theresa R, Lim, Stephen W, Braunstein, Glenn D, Anja Kammesheidt, Theresa R Tonozzi, Stephen W Lim, Glenn D Braunstein

Abstract

The primary purpose of this study was to clinically evaluate circulating tumor DNA (ctDNA) with a nine gene, 96 mutation panel among subjects at increased risk for cancer with no previous cancer diagnosis. DNA from 1059 asymptomatic subjects was analyzed for detection of low levels ctDNA using a blood plasma liquid biopsy assay. Subjects with detectable copies of ctDNA were asked to provide additional blood samples and relevant medical records throughout their one-year of participation. Subjects with a negative result were followed-up at one-year with a questionnaire. Mutations were detected in 58 subjects and not detected in 1001 subjects. Among the subjects who tested positive for one or more mutations, four were diagnosed with cancer, two of which through study-triggered clinical follow-up. Two subjects who tested negative on the screen received an early cancer diagnosis over the course of the year. The sensitivity of the assay at a threshold of ≥2 copies in this population was 66.67% and specificity was 94.87%. While the negative predictive value was 99.8%, the positive predictive value was only 6.9% in this cohort. Analysis of buffy coat DNA from eight positive subjects, including one who was diagnosed with cancer, revealed matching mutations suggesting that the ctDNA could have been derived from clonal hematopoiesis. The observed false positive rate of ctDNA on a 96-mutation assay in an asymptomatic high-risk population is much greater than the true positive rate, limiting its usefulness as a cancer screening tool in its current form.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 33%
Other 3 13%
Student > Bachelor 3 13%
Student > Ph. D. Student 1 4%
Student > Master 1 4%
Other 2 8%
Unknown 6 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 25%
Computer Science 2 8%
Agricultural and Biological Sciences 2 8%
Neuroscience 2 8%
Medicine and Dentistry 2 8%
Other 2 8%
Unknown 8 33%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 August 2018.
All research outputs
#10,188,605
of 13,347,801 outputs
Outputs from International Journal of Molecular Epidemiology and Genetics
#19
of 48 outputs
Outputs of similar age
#187,077
of 271,333 outputs
Outputs of similar age from International Journal of Molecular Epidemiology and Genetics
#1
of 1 outputs
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