Evidence map›Paper›PMID 40838355›Full record

ReviewEpigenomics2025

DNA methylation biomarkers for the diagnosis and treatment management of breast cancer: where are we now?

Sarah Williams, Susan J Clark, Ruth Pidsley, Clare Stirzaker

Abstract readReview
In one paragraph

Review in Epigenomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Review
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  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Sarah WilliamsEpigenetics Research Laboratory, Cancer Ecosystems Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID 0009-0004-9544-3054
Susan J ClarkEpigenetics Research Laboratory, Cancer Ecosystems Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID 0000-0001-5925-5030
Ruth PidsleyEpigenetics Research Laboratory, Cancer Ecosystems Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID 0000-0002-1386-1374
Clare StirzakerEpigenetics Research Laboratory, Cancer Ecosystems Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID 0000-0001-5601-3140

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Breast cancer is one of the most commonly diagnosed cancers worldwide and is a significant contributor to the global cancer burden. It is a clinically heterogeneous disease and reliable tools are needed to support treatment decisions, including patient risk, prediction of therapeutic response and monitoring patients throughout their cancer journey. DNA methylation alterations are an early occurring, highly pervasive and stable modification during tumorigenesis, making DNA methylation an attractive target for the development of biomarkers. In this review, we first provide an overview of DNA methylation and explore its role in cancer, with an emphasis on breast cancer. We then focus on the potential use of tissue- and blood-based DNA methylation biomarkers to inform clinical decision-making in breast cancer paradigms: diagnosis; disease sub-typing; prediction of therapy response to neoadjuvant chemotherapy, endocrine therapy and immunotherapy; prognosis; and the tumor microenvironment. We highlight the significant progress achieved over recent decades in the development of DNA methylation-based biomarkers for breast cancer care. We end by discussing how the integration of advanced research methodologies and bioinformatic tools, and their incorporation into liquid biopsy platforms and ctDNA assays, offer promising opportunities for these biomarkers to be widely adopted in clinical practice.

Indexed as

Biomarkers, TumorBreast NeoplasmsDNA MethylationEpigenesis, GeneticFemaleHumansPrognosisTumor MicroenvironmentBiomarkers, Tumorbiomarkerbreast cancercirculating tumor DNAdetectionDNA methylationepigeneticsprognosistreatment

Identifiers

PMID40838355
PMCPMC12520111

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.