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Record W4409118779 · doi:10.1093/jnci/djaf067

A randomized study of 2 risk assessment models for individualized breast cancer risk estimation

2025· article· en· W4409118779 on OpenAlexfundno aff
Adrià López‐Fernández, Laura Duran-Lozano, Guillermo Villacampa, Mònica Pardo, Esther Darder, A. Vallmajó, Mara Cruellas, Ariadna Roqué, Mireia Cartró, Adriana Bareas, Estela Carrasco, M.A. Rezqallah Aron, Ana Raquel Jimenez-Macedo, Sara Torres‐Esquius, Maite Torres, Consol López, Martín Espinosa, Àlex Teulé, Elisabet Munté, Noemí Tuset, Orland Dı́ez, Lídia Feliubadaló, Conxi Lázaro, Gemma Llort, Tim Carver, Lorenzo Ficorella, Nasim Mavaddat, Anna Mercadé, Antonis C. Antoniou, Joan Brunet, Teresa Ramón y Cajal, Judith Balmañà

Bibliographic record

VenueJNCI Journal of the National Cancer Institute · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsnot available
FundersInstituto de Salud Carlos IIICanadian Institutes of Health ResearchGenome CanadaGeneralitat de CatalunyaCancer Research UKGovernment of CanadaCentres de Recerca de CatalunyaAgencia Estatal de InvestigaciónFundación CellexEuropean CommissionBreast Cancer Research Foundation
KeywordsBreast cancerEstimationMedicineRisk assessmentRandomized controlled trialOncologyCancerInternal medicineComputer scienceEngineering

Abstract

fetched live from OpenAlex

BACKGROUND: Estimating breast cancer risk involves quantifying genetic and non-genetic factors. This supports health interventions and risk communication to ensure adherence to screening recommendations. This study evaluated the change in risk estimation when incorporating breast density and polygenic risk score (PRS) into the baseline cancer risk assessment and compared the efficacy of 2 risk-assessment delivery models. METHODS: This 2-step study included 663 healthy women with a family history of breast cancer in which no pathogenic variants were identified. First, breast density and PRS were added to the baseline risk assessment for all participants. A randomized intervention study compared 2 delivery models (in-person vs pre-recorded video) for risk assessment in women at moderate or average risk. All tests were 2-sided. RESULTS: Breast density and PRS reclassified the risk group into 33% of the participants, with only 5% reclassified as high-risk. After disclosure of their estimated multifactorial risk, 65% of women aligned their risk perception with their estimated risk, compared to 47% at baseline (P < .05). No statistically significant differences were found in the primary endpoint cancer worry, mean = 10.2 (SD = 3.1) vs 10.1 (2.7), between delivery models. In-person delivery had slightly better psychological outcomes (excluding the primary outcome) and higher satisfaction, though few participants in the video group sought in-person clarification. CONCLUSIONS: Incorporating breast density and PRS into risk assessments led to substantial reclassification, with 1 in 5 women facing de-escalated surveillance. Personalized assessments improve objective perceptions alignment. A model using a pre-recorded video-based model matches in-person delivery for moderate and average-risk women and is scalable for population-level implementation.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.007
metaresearch head score (Gemma)0.024
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Randomized trial · Consensus signal: Randomized trial
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.014
Threshold uncertainty score0.046

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.024
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0040.002
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.002
Open science0.0020.002
Research integrity0.0040.004
Insufficient payload (model declined to judge)0.0140.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.030
GPT teacher head0.385
Teacher spread0.355 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designRandomized trial
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations4
Published2025
Admission routes1
Has abstractyes

Explore more

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