Plasma DNA integrity as a biomarker for primary and metastatic breast cancer and potential marker for early diagnosis
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- 作者：Dharanija Madhavan (1) (2)
Markus Wallwiener (3) (4)
Karin Bents (2)
Manuela Zucknick (5)
Juliane Nees (3) (4)
Sarah Schott (3)
Katarina Cuk (1) (2)
Sabine Riethdorf (6)
Andreas Trumpp (7) (8)
Klaus Pantel (6)
Christof Sohn (3)
Andreas Schneeweiss (3) (4)
Harald Surowy (1) (2)
Barbara Burwinkel (1) (2) - 关键词：Breast cancer ; Circulating DNA ; DNA integrity ; Diagnostic marker ; Prognostic marker
- 刊名：Breast Cancer Research and Treatment
- 出版年：2014
- 出版时间：July 2014
- 年：2014
- 卷：146
- 期：1
- 页码：163-174
- 全文大小：
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Markus Wallwiener (3) (4)
Karin Bents (2)
Manuela Zucknick (5)
Juliane Nees (3) (4)
Sarah Schott (3)
Katarina Cuk (1) (2)
Sabine Riethdorf (6)
Andreas Trumpp (7) (8)
Klaus Pantel (6)
Christof Sohn (3)
Andreas Schneeweiss (3) (4)
Harald Surowy (1) (2)
Barbara Burwinkel (1) (2)
1. Molecular Epidemiology, C080, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 581, 69120, Heidelberg, Germany
2. Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany
3. Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany
4. National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany
5. Division of Biostatistics, German Cancer Research Center (DKFZ), Heidelberg, Germany
6. Department of Tumor Biology, University Hospital Hamburg-Eppendorf, Hamburg, Germany
7. Hi-STEM-Heidelberg Institute for Stem Cell Technology and Experimental Medicine, GmbH, Heidelberg, Germany
8. Division of Stem Cells and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany - ISSN：1573-7217
文摘
Circulating or cell-free DNA (cfDNA) has been evaluated as a biomarker in many cancers including breast cancer. In particular, integrity of cfDNA has been shown to be altered in cancers. We have estimated the biomarker potential of cfDNA in primary (PBC) and metastatic breast cancer (MBC). cfDNA integrity (cfDI) and concentration?were determined in plasma of 383 individuals, including 82 PBC and 201 MBC cases, as well as 100 healthy controls, by measuring ALU and LINE1 repetitive DNA elements using quantitative PCR. The MBC patient group was further sub-divided into patients with detectable circulating tumour cells (CTCpos-MBC, n?=?100) and those without (CTCneg-MBC, n?=?101). A hierarchical decrease in cfDI and increase in cfDNA concentration from healthy controls to PBC and further onto MBC patients were observed. Investigation of cfDNA in media of cell lines was in concordance with these results. Combination of cfDI and cfDNA concentration could differentiate PBC cases from controls (area under the curve, AUC?=?0.75), MBC cases from controls (AUC?=?0.81 for CTCneg-MBC, AUC?=?0.93 for CTCpos-MBC), and CTCneg-MBC from CTCpos-MBC cases (AUC?=?0.83). cfDI additionally demonstrated a positive correlation to progression-free (HR of 0.46 for ALU, P?=?0.0025) and overall survival (HR of 0.15 for ALU and 0.20 for LINE1, P?<?0.0001) in MBC, and had lower prediction error than CTC status. Our findings show that reduced cfDI and increased cfDNA concentration can serve as diagnostic markers for PBC and MBC, and cfDI as a prognostic marker for MBC, thereby making them attractive candidates for blood-based multi-marker assays.