Evidence mapPaperPMID 39711216Full record

ArticleEpigenomics2025

Evaluation of agreement between common clustering strategies for DNA methylation-based subtyping of breast tumours.

Elaheh Zarean, Shuai Li, Ee Ming Wong, Enes Makalic, Roger L Milne, Graham G Giles, Catriona McLean, Melissa C Southey, Pierre-Antoine Dugué

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Article in Epigenomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Elaheh ZareanPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Shuai LiPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Ee Ming WongPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Enes MakalicDepartment of Data Science and AI, Faculty of Information Technology, Monash University, Clayton, VIC, Australia.
Roger L MilnePrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Graham G GilesPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Catriona McLeanAnatomical Pathology, Alfred Health, The Alfred Hospital, Melbourne, VIC, Australia.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Pierre-Antoine DuguéPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.ORCID 0000-0003-2736-3023

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimsClustering algorithms have been widely applied to tumor DNA methylation datasets to define methylation-based cancer subtypes. This study aimed to evaluate the agreement between subtypes obtained from common clustering strategies. MATERIALS &

methodsWe used tumor DNA methylation data from 409 women with breast cancer from the Melbourne Collaborative Cohort Study (MCCS) and 781 breast tumors from The Cancer Genome Atlas (TCGA). Agreement was assessed using the adjusted Rand index for various combinations of number of CpGs, number of clusters and clustering algorithms (hierarchical, K-means, partitioning around medoids, and recursively partitioned mixture models).

resultsInconsistent agreement patterns were observed for between-algorithm and within-algorithm comparisons, with generally poor to moderate agreement (ARI <0.7). Results were qualitatively similar in the MCCS and TCGA, showing better agreement for moderate number of CpGs and fewer clusters (K = 2). Restricting the analysis to CpGs that were differentially-methylated between tumor and normal tissue did not result in higher agreement.

conclusionOur study highlights that common clustering strategies involving an arbitrary choice of algorithm, number of clusters and number of methylation sites are likely to identify different DNA methylation-based breast tumor subtypes.

Indexed as

Breast NeoplasmsDNA MethylationAlgorithmsCluster AnalysisCpG IslandsFemaleHumansadjusted rand indexagreementBreast tumorclustering algorithmDNA methylation

Identifiers

PMID39711216
PMCPMC11792870

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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 Socratic graph.