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Record W4409962691 · doi:10.1002/jgc4.70010

Breast cancer risk assessment evaluation of screening tools for genetics referral for women in Taiwan

2025· article· en· W4409962691 on OpenAlexaboutno aff
Su‐Ying Fang

Bibliographic record

VenueJournal of Genetic Counseling · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsnot available
FundersNational Science and Technology Council
KeywordsReferralGenetic counselingCancer geneticsMedicineHuman geneticsBreast cancerPublic healthFamily medicineMedical geneticsBreast cancer screeningGynecologyGenetic testingCancerGeneticsMammographyInternal medicinePathologyBiology

Abstract

fetched live from OpenAlex

BACKGROUND: Risk screening tools recommended by the United States Preventative Services Task Force (USPSTF) are used to screen potential BRCA1/2 pathogenic variant carriers. The purpose of this study was to identify an appropriate breast cancer risk-screening tool for genetic referral among women with a family history of breast cancer in Taiwan. METHODS: A cross-sectional design with convenience sampling was used in this study. Women with a family history of breast cancer but not diagnosed with breast cancer were recruited from surgical outpatient clinics. Sociodemographic and family cancer history were collected based on the screening tools. Both the Tyrer-Cuzick (IBIS) and BRCAPRO were used as a Gold standard to evaluate the accuracy of five screening tools. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and the areas under the receiver-operating curve (AUC) were compared to identify the most accurate one to determine women with elevated risk as defined by IBIS and BRCAPRO calculations with lifetime risk over 15%. RESULTS: One hundred twenty-four women with a family history of breast cancer but not yet diagnosed as breast cancer were recruited in this study. When the Tyrer-Cuzick (IBIS) was used as the standard, the AUC for the tools ranged from 0.490 to 0.562. When the BRCAPRO was used as the standard, the p values of the Ontario Family History Assessment Tool (Ontario-FHAT) (p = 0.003) and Pedigree Assessment Tool (PAT) (p = 0.016) were significant, and the AUCs were 0.938 and 0.854 for Ontario-FHAT and PAT, respectively. Since the sensitivity of Ontario-FHAT was 100, which is higher than PAT, we considered that using Ontario-FHAT in Taiwanese women would be better than using PAT. CONCLUSIONS: Ontario-FHAT would be an appropriate screening tool for identifying individuals in Taiwan who may need a genetic referral for further BRCA1/2 risk evaluation.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.536
Threshold uncertainty score0.486

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.033
GPT teacher head0.371
Teacher spread0.338 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designSimulation or modeling
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

Citations2
Published2025
Admission routes1
Has abstractyes

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