A deterministic, open reconstruction of the 21-gene breast-cancer recurrence score: external discrimination validation across nine public cohorts

Background. The 21-gene recurrence score (RS) is an established prognostic and predictive tool in early, hormone-receptor-positive (HR+), HER2-negative breast cancer. Independent, transparent re-implementations of the published RS methodology are valuable for reproducibility, education and as engineering substrates for downstream decision-support, but their analytical fidelity and discrimination must be demonstrated before use. We describe OncoBreast21, a deterministic, content-hash-stamped implementation of the published Paik (2004) 21-gene algorithm, and its external validation. Methods. OncoBreast21 v1.8.0 (deterministic; no machine learning in the score) was evaluated on nine independent public cohorts (METABRIC, TCGA-BRCA, and seven GEO series). Cohort expression (microarray or RNA-seq) was bridged to the engine's reference scale by a genefu-style quantile rescaling that emits a synthetic pre-image for the unmodified engine normalisation; the production scoring function was never altered. An independent implementation of the published Paik formula served as an internal control. Discrimination was assessed by Harrell's C-index (bootstrap 95% CI, 400 resamples), Cox proportional-hazards models (continuous per +10 points, by TAILORx band, and multivariable), multivariate log-rank across bands, and concordance with the reference (Spearman rho, Pearson r, Bland-Altman, Cohen's kappa). Reporting follows TRIPOD and REMARK. Results. Eight cohorts carried a survival endpoint (5,488 in-indication patients; 976 events). Across all eight, the engine's C-index was statistically indistinguishable from the independent reference implementation (absolute difference <= 0.004): METABRIC 0.615 vs 0.616; GSE7390 0.678 vs 0.681; GSE17705 0.665 vs 0.667; GSE12093 0.633 vs 0.628; GSE6532 0.591 vs 0.593; GSE11121 0.610 vs 0.609; SCAN-B 0.570 vs 0.572; TCGA-BRCA 0.544 vs 0.548. Rank concordance with the reference was near-perfect (Spearman rho 0.997-0.999). The score added prognostic information beyond nodal status, grade and age on five independent cohorts (e.g., METABRIC multivariable hazard ratio 1.095 per +10 points, p = 1.2x10^-8). The TCGA-BRCA null was reproduced by the reference formula on the same patients, indicating an underpowered endpoint rather than an engine defect. Conclusions. OncoBreast21 faithfully reproduces the published 21-gene methodology and its discrimination across diverse platforms, cohorts and endpoints. Discrimination is validated; because cohort scores are platform-relative reconstructions, absolute-scale calibration and band cut-points are reported separately and are the subject of an ongoing concordance study. The implementation is investigational / research-use-only and is not interchangeable with any cleared clinical assay.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-09-30
DOI
https://doi.org/10.5281/zenodo.23062907
Primary Topic
Breast Cancer Treatment Studies
Type
preprint
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preprint

A deterministic, open reconstruction of the 21-gene breast-cancer recurrence score: external discrimination validation across nine public cohorts

aumics oy (in formation), Tampere, Finland, Venkata Narasimha Subrahmanya Uma Mahesh Bontha
Zenodo (CERN European Organization for Nuclear Research)
Breast Cancer Treatment Studies
preprint

A deterministic, open reconstruction of the 21-gene breast-cancer recurrence score: external discrimination validation across nine public cohorts

aumics oy (in formation), Tampere, Finland, Venkata Narasimha Subrahmanya Uma Mahesh Bontha
preprint en

Abstract

Background. The 21-gene recurrence score (RS) is an established prognostic and predictive tool in early, hormone-receptor-positive (HR+), HER2-negative breast cancer. Independent, transparent re-implementations of the published RS methodology are valuable for reproducibility, education and as engineering substrates for downstream decision-support, but their analytical fidelity and discrimination must be demonstrated before use. We describe OncoBreast21, a deterministic, content-hash-stamped implementation of the published Paik (2004) 21-gene algorithm, and its external validation. Methods. OncoBreast21 v1.8.0 (deterministic; no machine learning in the score) was evaluated on nine independent public cohorts (METABRIC, TCGA-BRCA, and seven GEO series). Cohort expression (microarray or RNA-seq) was bridged to the engine's reference scale by a genefu-style quantile rescaling that emits a synthetic pre-image for the unmodified engine normalisation; the production scoring function was never altered. An independent implementation of the published Paik formula served as an internal control. Discrimination was assessed by Harrell's C-index (bootstrap 95% CI, 400 resamples), Cox proportional-hazards models (continuous per +10 points, by TAILORx band, and multivariable), multivariate log-rank across bands, and concordance with the reference (Spearman rho, Pearson r, Bland-Altman, Cohen's kappa). Reporting follows TRIPOD and REMARK. Results. Eight cohorts carried a survival endpoint (5,488 in-indication patients; 976 events). Across all eight, the engine's C-index was statistically indistinguishable from the independent reference implementation (absolute difference <= 0.004): METABRIC 0.615 vs 0.616; GSE7390 0.678 vs 0.681; GSE17705 0.665 vs 0.667; GSE12093 0.633 vs 0.628; GSE6532 0.591 vs 0.593; GSE11121 0.610 vs 0.609; SCAN-B 0.570 vs 0.572; TCGA-BRCA 0.544 vs 0.548. Rank concordance with the reference was near-perfect (Spearman rho 0.997-0.999). The score added prognostic information beyond nodal status, grade and age on five independent cohorts (e.g., METABRIC multivariable hazard ratio 1.095 per +10 points, p = 1.2x10^-8). The TCGA-BRCA null was reproduced by the reference formula on the same patients, indicating an underpowered endpoint rather than an engine defect. Conclusions. OncoBreast21 faithfully reproduces the published 21-gene methodology and its discrimination across diverse platforms, cohorts and endpoints. Discrimination is validated; because cohort scores are platform-relative reconstructions, absolute-scale calibration and band cut-points are reported separately and are the subject of an ongoing concordance study. The implementation is investigational / research-use-only and is not interchangeable with any cleared clinical assay.

Zenodo (CERN European Organization for Nuclear Research)
European Organization for Nuclear Research (CH)
Gender equality
Breast Cancer Treatment Studies
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