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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Heitzer, E; Auer, M; Hoffmann, EM; Pichler, M; Gasch, C; Ulz, P; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Mohan, S; Pristauz, G; Lackner, C; Höfler, G; Eisner, F; Petru, E; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR.
Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer.
Int J Cancer. 2013; 133(2):346-356 Doi: 10.1002/ijc.28030 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Geigl Jochen Bernd
Heitzer Ellen
Co-Autor*innen der Med Uni Graz
Auer Martina
Bauernhofer Thomas
Eisner Florian
Hoffmann Eva Maria
Höfler Gerald
Lackner Karoline
Mohan Sumitra
Petru Edgar
Pichler Martin
Pristauz-Telsnigg Gunda
Samonigg Hellmut
Sill Heinz
Speicher Michael
Ulz Peter
Waldispühl-Geigl Julie

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With the increasing number of available predictive biomarkers, clinical management of cancer is becoming increasingly reliant on the accurate serial monitoring of tumor genotypes. We tested whether tumor-specific copy number changes can be inferred from the peripheral blood of patients with cancer. To this end, we determined the plasma DNA size distribution and the fraction of mutated plasma DNA fragments with deep sequencing and an ultrasensitive mutation-detection method, i.e., the Beads, Emulsion, Amplification, and Magnetics (BEAMing) assay. When analyzing the plasma DNA of 32 patients with Stage IV colorectal carcinoma, we found that a subset of the patients (34.4%) had a biphasic size distribution of plasma DNA fragments that was associated with increased circulating tumor cell numbers and elevated concentration of mutated plasma DNA fragments. In these cases, we were able to establish genome-wide tumor-specific copy number alterations directly from plasma DNA. Thus, we could analyze the current copy number status of the tumor genome, which was in some cases many years after diagnosis of the primary tumor. An unexpected finding was that not all patients with progressive metastatic disease appear to release tumor DNA into the circulation in measurable quantities. When we analyzed plasma DNA from 35 patients with metastatic breast cancer, we made similar observations suggesting that our approach may be applicable to a variety of tumor entities. This is the first description of such a biphasic distribution in a surprisingly high proportion of cancer patients which may have important implications for tumor diagnosis and monitoring.
Find related publications in this database (using NLM MeSH Indexing)
Aged -
Aged, 80 and over -
Biological Markers - blood
Breast Neoplasms - blood Breast Neoplasms - genetics
Case-Control Studies -
Colorectal Neoplasms - blood Colorectal Neoplasms - genetics
DNA, Neoplasm - blood DNA, Neoplasm - genetics
Female -
Gene Dosage -
Genes, ras - genetics
High-Throughput Nucleotide Sequencing - methods
Humans -
Male -
Middle Aged -
Mutation -
Neoplasm Metastasis -
Neoplastic Cells, Circulating - metabolism
Sequence Analysis, DNA -

Find related publications in this database (Keywords)
plasma DNA
tumor monitoring
predictive and prognostic biomarker
copy number changes
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