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Updated: May 7, 2026

An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
10:41

An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues

Published on: April 5, 2018

The mutational landscape of chromatin regulatory factors across 4,623 tumor samples

Abel Gonzalez-Perez, Alba Jene-Sanz, Nuria Lopez-Bigas

    Genome Biology
    |September 26, 2013
    PubMed
    Abstract

    Insights

    Chromatin regulatory factors are key cancer genes. This study identified 34 such factors as potential drivers across 13 cancer types, revealing tissue-specific mutation prevalence and mechanisms like MLL and EP300 gene expression changes.

    Area of Science:

    • Genomics
    • Cancer Biology
    • Epigenetics

    Background:

    • Chromatin regulatory factors are increasingly recognized for their role in cancer development.
    • These factors represent promising targets for novel cancer therapies.
    • A comprehensive understanding of their function across diverse cancer types is currently lacking.

    Purpose of the Study:

    • To identify chromatin regulatory factors that act as candidate drivers in various cancer types.
    • To assess the prevalence and significance of mutations in these factors across different anatomical sites.
    • To investigate the mechanisms by which these mutations contribute to tumorigenesis.

    Main Methods:

    • Analysis of 4,623 tumor samples from thirteen anatomical sites.
    • Identification of chromatin regulatory factors with driver mutations.
    • Assessment of mutation frequency and relative importance in tumorigenesis.
    • Correlation analysis of gene mutations with expression changes in cancer cell lines.

    Main Results:

    • Identified 34 chromatin regulatory factors as likely drivers in tumors from at least one site, often with low mutational frequency.
    • Found that mutations in these factors are more prevalent in specific tissues, being less than one-fifth of all mutated drivers in most sites (excluding hematopoietic, liver, and kidney).
    • Demonstrated that mutations in MLL and EP300 correlate with broad expression changes in cancer cell lines.

    Conclusions:

    • Tumors across all thirteen analyzed sites harbor mutations in driver chromatin regulatory factors, with notable tissue-specific variations in prevalence.
    • Mutations in specific factors like MLL and EP300 provide mechanistic insights into their contribution to cancer development through altered gene expression.
    • These findings highlight the importance of chromatin regulatory factors as potential therapeutic targets in a broader range of cancers.

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