BreastSubtypeR: a unified R/Bioconductor package for intrinsic molecular subtyping in breast cancer research

Intrinsic molecular subtyping (IS) of breast cancer is fundamental for understanding disease biology and guiding personalized treatment. While IS methods are standardized in clinical practice, their research implementations vary, leading to inconsistencies and reduced reproducibility. We introduce BreastSubtypeR, an R/Bioconductor package that unifies multiple published IS classifiers into a single, reproducible framework, enabling systematic cross-method comparison and robust cohort-aware selection. Its core feature, AUTO mode, quantitatively evaluates cohort composition and selectively activates classifiers whose assumptions are met, reducing user bias and improving robustness across skewed or subtype-specific cohorts. The package also provides a unified, method-specific normalization pipeline, optimized probe-to-gene mapping, and an intuitive local Shiny app (iBreastSubtypeR) for non-programmers. By standardizing method selection, preprocessing, and mapping within a Bioconductor workflow, BreastSubtypeR improves reproducibility and accessibility, and addresses an urgent need for assumption-aware IS in breast cancer research. Availability and implementation: The BreastSubtypeR package and its companion R Shiny application, iBreastSubtypeR, are freely available through Bioconductor (https://doi.org/10.18129/B9.bioc.BreastSubtypeR). The complete source code is also hosted on GitHub (https://github.com/JohanHartmanGroupBioteam/BreastSubtypeR). A citable archived snapshot of the version used (v1.1.3) is available on Zenodo (https://doi.org/10.5281/zenodo.17085316). The software is released under the GPL-3 license. Comprehensive documentation and an example dataset are provided to facilitate user adoption.

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Publication Details

Journal
NAR Genomics and Bioinformatics
Published
2025-10-07
DOI
https://doi.org/10.1093/nargab/lqaf131
Primary Topic
Gene expression and cancer classification
Type
article
Field-Weighted Citation Impact
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article

BreastSubtypeR: a unified R/Bioconductor package for intrinsic molecular subtyping in breast cancer research

Johan Hartman, Emmanouil G. Sifakis, Qiao Yang
NAR Genomics and Bioinformatics
Gene expression and cancer classification
article

BreastSubtypeR: a unified R/Bioconductor package for intrinsic molecular subtyping in breast cancer research

Johan Hartman, Emmanouil G. Sifakis, Qiao Yang
article en

Abstract

Intrinsic molecular subtyping (IS) of breast cancer is fundamental for understanding disease biology and guiding personalized treatment. While IS methods are standardized in clinical practice, their research implementations vary, leading to inconsistencies and reduced reproducibility. We introduce BreastSubtypeR, an R/Bioconductor package that unifies multiple published IS classifiers into a single, reproducible framework, enabling systematic cross-method comparison and robust cohort-aware selection. Its core feature, AUTO mode, quantitatively evaluates cohort composition and selectively activates classifiers whose assumptions are met, reducing user bias and improving robustness across skewed or subtype-specific cohorts. The package also provides a unified, method-specific normalization pipeline, optimized probe-to-gene mapping, and an intuitive local Shiny app (iBreastSubtypeR) for non-programmers. By standardizing method selection, preprocessing, and mapping within a Bioconductor workflow, BreastSubtypeR improves reproducibility and accessibility, and addresses an urgent need for assumption-aware IS in breast cancer research. Availability and implementation: The BreastSubtypeR package and its companion R Shiny application, iBreastSubtypeR, are freely available through Bioconductor (https://doi.org/10.18129/B9.bioc.BreastSubtypeR). The complete source code is also hosted on GitHub (https://github.com/JohanHartmanGroupBioteam/BreastSubtypeR). A citable archived snapshot of the version used (v1.1.3) is available on Zenodo (https://doi.org/10.5281/zenodo.17085316). The software is released under the GPL-3 license. Comprehensive documentation and an example dataset are provided to facilitate user adoption.

NAR Genomics and BioinformaticsVol. 7(4)
Karolinska University Hospital (SE), Karolinska Institutet (SE)
Openalex Percentile: Top 75%
Gene expression and cancer classification
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BreastSubtypeR: a unified R/Bioconductor package for intrinsic molecular subtyping in breast cancer research — Johan Hartman, Emmanouil G. Sifakis, et al. · NAR Genomics and Bioinformatics (2025) | TGRS Research Map | TGRS