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Updated: Jul 31, 2026
Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
Cell-free and cell-bound circulating DNA in breast tumours: DNA quantification and analysis of tumour-related gene
T E Skvortsova1, E Y Rykova, S N Tamkovich
1Institute of Chemical Biology and Fundamental Medicine, SD RAS, 8, Lavrentiev ave., Novosibirsk 630090, Russia.
Abstract:
Tumour development is characterised by the increased circulating DNA (cirDNA) concentration and by tumour-related changes in blood plasma DNA. Concentration of cirDNA and methylation of RARbeta2, RASSF1A and HIC-1 gene promoters were investigated in cell-free and cell-surface-bound fractions from healthy donors, patients with breast cancer, and patients with breast fibroadenoma. Tumour development was shown to lead to significant changes in the distribution of cirDNA between cell-free and cell-surface-bound fractions. Analysis of RARbeta2 and RASSF1A methylation in the total cirDNA provides 95% diagnostic coverage in breast cancer patients, 60% in patients with benign lesions, and is without false-positive results in healthy women. Results of the study indicate that methylation-specific PCR of RARbeta2 and RASSF1A genes based on the total cirDNA combined with the quantitative analysis of cirDNA distribution between cell-bound and cell-free fractions in blood provide the sensitive and accurate detection and discrimination of malignant and benign breast tumours.
