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ISSN-2155-9929

Journal of Molecular Biomarkers & Diagnosis
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  • Research Article   
  • J Mol Biomark Diagn 2017, Vol 8(5): S2-037
  • DOI: 10.4172/2155-9929.S2-037

Investigation of Global Methylation in Peripheral Blood from Breast Cancer Patients

Xue Cao1,2, Tim Holland-Letz3, Qiuqiong Tang1,2, Xiaomeng Li1,2, Melanie Gündert1,2, Katarina Cuk1,2, Sarah Schott1, Jörg Heil4, Michael Golatta4, Christof Sohn1, Andreas Schneeweiss1,5 and Barbara Burwinkel1,2*
1Department of Gynecology and Obstetrics, Molecular Biology of Breast Cancer, University of Heidelberg, , Heidelberg, Germany
2Division of Molecular Epidemiology (C080), German Cancer Research Center (DKFZ), , Heidelberg, Germany
3Department of Biostatistics (C060), German Cancer Research Center (DKFZ), , Heidelberg, Germany
4Department of Gynecology and Obstetrics, University Women’s Clinic, , Heidelberg, Germany
5National Centre for Tumor Diseases, , Heidelberg, Germany
*Corresponding Author : Barbara Burwinkel, Department of Gynecology and Obstetrics, Molecular Biology of Breast Cancer, University of Heidelberg, Heidelberg, Germany, Tel: +49 6221 56 8400, Fax: +49 6221 56 5356, Email: [email protected]

Received Date: Sep 24, 2017 / Accepted Date: Oct 04, 2017 / Published Date: Oct 06, 2017

Abstract

Breast cancer is the most frequent malignancy with high mortality among woman around the world. Global DNA methylation has been investigated by multiple studies and suggested as a screening biomarker for cancer. DNA methylation for two repetitive elements, LINE1 and Alu, was investigated in whole blood DNA from 229 breast cancer patients and 151 controls by using MassARRAY EpiTyper assay. Results showed that the mean methylation level of investigated CpG sites of LINE1 in peripheral blood from breast cancer patients was lower than that in controls (P=8.78E-06), especially for one specific CpG site (LINE1_CpG_1 with P=3.64E-10). ROC curve analysis of LINE1_CpG_1 methylation and LINE1 mean methylation was used to estimate the potential clinical utility of LINE1 methylation, area under the curve (AUC) was 0.73 (95% confidence interval (CI): 0.68-0.79) and 0.68 (95% CI: 0.62-0.74), respectively. In addition, the highest increased risk was observed in the lowest quartile of LINE1_CpG_1 methylation and LINE1 mean methylation (odds ratio (OR)=38.47 and 5.94; 95% CI: 8.77-168.64 and 2.94-11.98; P for trend=1.42E-07 and 1.33E-05 respectively). For Alu, significant hypomethylation of Alu_CpG_13 and Alu_ CpG_14 in peripheral blood of breast cancer cases compared to controls was observed (P=0.002 and P=0.006). For the combined analysis, the AUC of the 10 most important CpG sites of LINE1 and Alu is 0.77 (95% CI: 0.72-0.83). Our study indicates that hypomethylation of specific CpG sites in LINE1 and Alu elements in peripheral blood DNA could be potential biomarkers for breast cancer risk. Further multicenter prospective studies are needed to verify these results.

Keywords: Breast cancer; DNA methylation; LINE1; Alu

Citation: Cao X, Holland-Letz T, Tang Q, Li X, Gündert M, et al. (2017) Investigation of Global Methylation in Peripheral Blood from Breast Cancer Patients. J Mol Biomark Diagn S2: 037. Doi: 10.4172/2155-9929.S2-037

Copyright: ©2017 Cao X, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse, distribution, and reproduction in any medium, provided the original author and source are credited.

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