Evaluation of exome sequencing to estimate tumor burden in plasma

Accurate estimation of systemic tumor load from the blood of cancer patients has enormous potential. One avenue is to measure the presence of cell-free circulating tumor DNA in plasma. Various approaches have been investigated, predominantly covering hotspot mutations or customized, patient-specific...

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Bibliographic Details
Published in:PloS one 2014-08, Vol.9 (8), p.e104417-e104417
Main Authors: Klevebring, Daniel, Neiman, Mårten, Sundling, Simon, Eriksson, Louise, Darai Ramqvist, Eva, Celebioglu, Fuat, Czene, Kamila, Hall, Per, Egevad, Lars, Grönberg, Henrik, Lindberg, Johan
Format: Article
Language:English
Subjects:
Analysis
Background noise
Bioinformatics
Biology and Life Sciences
Breast cancer
Breast Neoplasms - blood
Breast Neoplasms - pathology
Cancer
Cell cycle
Cellular biology
Deoxyribonucleic acid
Diagnostic systems
DNA
DNA damage
DNA sequencing
DNA, Neoplasm - blood
Epidemiology
Exome
Female
Gene sequencing
Genetic testing
Genomes
High-Throughput Nucleotide Sequencing
Hospitals
Humans
Laboratories
Male
Medicin och hälsovetenskap
Medicine and Health Sciences
Metastases
Metastasis
Mutation
Mutation hot spots
Noise levels
Nucleotide sequence
Patients
Plasma
Polyethylene glycol
Polymerase chain reaction
Prostate cancer
Prostatic Neoplasms - blood
Prostatic Neoplasms - pathology
Registration
Reproduction (copying)
Science
Sensitivity analysis
Sensitivity and Specificity
Sequence Analysis, DNA
Simulation analysis
Size distribution
Surgery
Tumor Burden
Tumors
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Summary:Accurate estimation of systemic tumor load from the blood of cancer patients has enormous potential. One avenue is to measure the presence of cell-free circulating tumor DNA in plasma. Various approaches have been investigated, predominantly covering hotspot mutations or customized, patient-specific assays. Therefore, we investigated the utility of using exome sequencing to monitor circulating tumor DNA levels through the detection of single nucleotide variants in plasma. Two technologies, claiming to offer efficient library preparation from nanogram levels of DNA, were evaluated. This allowed us to estimate the proportion of starting molecules measurable by sequence capture (
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0104417