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Updated: Feb 6, 2026
07:50
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
6.2K
Pan-cancer deconvolution of tumour composition using DNA methylation
Ankur Chakravarthy1,2, Andrew Furness3, Kroopa Joshi3
1Department of Oncology, UCL Cancer Institute, University College London, London, WC1E 6BT, UK.
Nature Communications
|August 15, 2018
Summary
This study identifies distinct
Area of Science:
- Oncology
- Immunology
- Genomics
Background:
- Immune cell infiltration in solid tumors impacts therapeutic outcomes.
- Understanding tumor composition and genomics is crucial for predicting treatment response.
Purpose of the Study:
- To integrate tumor composition and genomic analysis across various solid cancers.
- To identify distinct tumor subgroups based on immune cell infiltration.
- To explore the link between tumor genomics, immune microenvironment, and immunotherapy response.
Main Methods:
- Utilized a DNA methylation-based approach for tumor cell fraction deconvolution.
- Performed integrated analysis of tumor composition and genomics across multiple cancer types.
- Investigated head and neck squamous cell carcinoma to define tumor subgroups.
Main Results:
- Identified two distinct tumor subgroups: 'immune hot' and 'immune cold', with differing prognoses and genomic features.
- Demonstrated these subgroups exist pan-cancer, linking neoantigen burden to cytotoxic T-lymphocyte infiltration.
- Found 'hot' tumors enriched for immune-resistance alterations, explaining response heterogeneity.
Conclusions:
- Tumor immune phenotype and genomic alterations significantly influence immunotherapy response.
- Candidate biomarkers and therapeutic targets for precision immunotherapy were identified.
- This work provides a framework for understanding and manipulating anti-tumor immunity.
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