The DNA methylation landscape of primary triple-negative breast cancer

Abstract Triple-negative breast cancer (TNBC) is a clinically challenging and molecularly heterogenous breast cancer subgroup. Here, we investigate the DNA methylation landscape of TNBC. By analyzing tumor methylome profiles and accounting for the genomic context of CpG methylation, we divide TNBC i...

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Main Authors: Mattias Aine, Deborah F. Nacer, Elsa Arbajian, Srinivas Veerla, Anna Karlsson, Jari Häkkinen, Henrik J. Johansson, Frida Rosengren, Johan Vallon-Christersson, Åke Borg, Johan Staaf
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-58158-x
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author Mattias Aine
Deborah F. Nacer
Elsa Arbajian
Srinivas Veerla
Anna Karlsson
Jari Häkkinen
Henrik J. Johansson
Frida Rosengren
Johan Vallon-Christersson
Åke Borg
Johan Staaf
author_facet Mattias Aine
Deborah F. Nacer
Elsa Arbajian
Srinivas Veerla
Anna Karlsson
Jari Häkkinen
Henrik J. Johansson
Frida Rosengren
Johan Vallon-Christersson
Åke Borg
Johan Staaf
author_sort Mattias Aine
collection DOAJ
description Abstract Triple-negative breast cancer (TNBC) is a clinically challenging and molecularly heterogenous breast cancer subgroup. Here, we investigate the DNA methylation landscape of TNBC. By analyzing tumor methylome profiles and accounting for the genomic context of CpG methylation, we divide TNBC into two epigenetic subtypes corresponding to a Basal and a non-Basal group, in which characteristic transcriptional patterns are correlated with DNA methylation of distal regulatory elements and epigenetic regulation of key steroid response genes and developmental transcription factors. Further subdivision of the Basal and non-Basal subtypes identifies subgroups transcending genetic and proposed TNBC mRNA subtypes, demonstrating widely differing immunological microenvironments, putative epigenetically-mediated immune evasion strategies, and a specific metabolic gene network in older patients that may be epigenetically regulated. Our study attempts to target the epigenetic backbone of TNBC, an approach that may inform future studies regarding tumor origins and the role of the microenvironment in shaping the cancer epigenome.
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spelling doaj-art-133665e947724edcbdf4476df7db8c862025-08-20T03:41:14ZengNature PortfolioNature Communications2041-17232025-03-0116112310.1038/s41467-025-58158-xThe DNA methylation landscape of primary triple-negative breast cancerMattias Aine0Deborah F. Nacer1Elsa Arbajian2Srinivas Veerla3Anna Karlsson4Jari Häkkinen5Henrik J. Johansson6Frida Rosengren7Johan Vallon-Christersson8Åke Borg9Johan Staaf10Division of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDepartment of Oncology-Pathology, Science for Life Laboratory, Karolinska InstitutetDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon VillageAbstract Triple-negative breast cancer (TNBC) is a clinically challenging and molecularly heterogenous breast cancer subgroup. Here, we investigate the DNA methylation landscape of TNBC. By analyzing tumor methylome profiles and accounting for the genomic context of CpG methylation, we divide TNBC into two epigenetic subtypes corresponding to a Basal and a non-Basal group, in which characteristic transcriptional patterns are correlated with DNA methylation of distal regulatory elements and epigenetic regulation of key steroid response genes and developmental transcription factors. Further subdivision of the Basal and non-Basal subtypes identifies subgroups transcending genetic and proposed TNBC mRNA subtypes, demonstrating widely differing immunological microenvironments, putative epigenetically-mediated immune evasion strategies, and a specific metabolic gene network in older patients that may be epigenetically regulated. Our study attempts to target the epigenetic backbone of TNBC, an approach that may inform future studies regarding tumor origins and the role of the microenvironment in shaping the cancer epigenome.https://doi.org/10.1038/s41467-025-58158-x
spellingShingle Mattias Aine
Deborah F. Nacer
Elsa Arbajian
Srinivas Veerla
Anna Karlsson
Jari Häkkinen
Henrik J. Johansson
Frida Rosengren
Johan Vallon-Christersson
Åke Borg
Johan Staaf
The DNA methylation landscape of primary triple-negative breast cancer
Nature Communications
title The DNA methylation landscape of primary triple-negative breast cancer
title_full The DNA methylation landscape of primary triple-negative breast cancer
title_fullStr The DNA methylation landscape of primary triple-negative breast cancer
title_full_unstemmed The DNA methylation landscape of primary triple-negative breast cancer
title_short The DNA methylation landscape of primary triple-negative breast cancer
title_sort dna methylation landscape of primary triple negative breast cancer
url https://doi.org/10.1038/s41467-025-58158-x
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