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Updated: Jul 13, 2026
Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
Methylated DNA sequences for early cancer detection, molecular classification and chemotherapy response prediction
I Ibáñez de Cáceres1, P Cairns
1Department of Molecular and Cellular Biology of Cancer, Instituto de Investigaciones Biomédicas CSIC/UAM, Madrid, Spain. iibanez@iib.uam.es
Abstract:
Molecular studies of many types of cancer have revealed that clinically evident tumours carry multiple genetic and epigenetic abnormalities, including DNA sequence alterations, chromosome copy number changes and aberrant promoter hypermethylation. Together, these aberrant changes result in the activation of oncogenes and inactivation of tumour-suppressor genes (TSG). In many cases these abnormalities can be found in premalignant lesions and even in histological normal adjacent cells. Many tumour types are difficult to detect early and are frequently resistant to available chemotherapy and radiotherapy. Therefore, the early detection, chemoprevention and the design of new therapeutic strategies based on the increased understanding of cancer molecular changes are one of the great challenges nowadays. Insertions of a methyl group at the fifth carbon of cytosines within the dinucleotide 5'- CpG-3' is the best studied epigenetic mechanism. DNA methylation acts together with others mechanisms like histone modification, chromatin remodelling and microRNAs to mould the DNA structure according to the functional state required. The aberrant methylation of the CpG islands located at the promoter region of specific genes is a common and early event involved in cancer development. Thus, hypermethylated DNA sequences from tumours are one of the most promising markers for early detection screenings as well as tumour classification and chemotherapy response in many types of cancer.
Insights
Aberrant DNA methylation, an epigenetic change, is a common early event in cancer development. Detecting these DNA methylation markers in tumors shows promise for early cancer detection and treatment strategies.
Area of Science:
- Oncology
- Epigenetics
- Molecular Biology
Background:
- Cancer is characterized by genetic and epigenetic abnormalities, including DNA sequence alterations and aberrant promoter hypermethylation.
- These molecular changes activate oncogenes and inactivate tumor-suppressor genes (TSG), often appearing in pre-malignant lesions.
- Many cancers are difficult to detect early and show resistance to current therapies, highlighting the need for novel detection and treatment strategies.
Purpose of the Study:
- To investigate the role of aberrant DNA methylation in cancer development.
- To explore the potential of DNA methylation as a biomarker for early cancer detection, classification, and predicting chemotherapy response.
Main Methods:
- Analysis of molecular changes in tumors, including genetic and epigenetic abnormalities.
- Focus on DNA methylation, specifically aberrant methylation of CpG islands in gene promoter regions.
- Examination of DNA methylation patterns in relation to cancer development and clinical outcomes.
Main Results:
- Aberrant DNA methylation is a common and early event in cancer development.
- Hypermethylated DNA sequences in tumors are identified as promising markers.
- These markers show potential for early detection screenings, tumor classification, and predicting chemotherapy response.
Conclusions:
- Aberrant DNA methylation is a key epigenetic mechanism in cancer.
- Tumor-derived hypermethylated DNA sequences represent valuable biomarkers.
- These biomarkers can significantly aid in early cancer detection and personalized treatment strategies.
