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Record W4405312934 · doi:10.1093/jnci/djae335

Evaluating the performance of the Breast and Ovarian Analysis of Disease Incidence Algorithm model in predicting 10-year breast cancer risks in UK Biobank

2024· article· en· W4405312934 on OpenAlexafffund
Carmen Petitjean, Naomi Wilcox, Lorenzo Ficorella, Joe Dennis, Jonathan P. Tyrer, Michael Lush, Jacques Simard, Douglas F. Easton, Antonis C. Antoniou

Bibliographic record

VenueJNCI Journal of the National Cancer Institute · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversité LavalCentre hospitalier de l'Université LavalCentre hospitalier universitaire de Québec
FundersHealth Data Research UKEngineering and Physical Sciences Research CouncilMedical Research CouncilNIHR Cambridge Biomedical Research CentreEconomic and Social Research CouncilEuropean CommissionDepartment of Health and Social CareCancer Research UKPublic Health AgencyGovernment of CanadaChief Scientist Office, Scottish Government Health and Social Care DirectorateFondation du cancer du sein du QuébecCanadian Institutes of Health ResearchGray FoundationScottish GovernmentBritish Heart FoundationWellcome TrustHealth and Social Care Research and Development DivisionNational Institute for Health and Care ResearchGenome Canada
KeywordsBiobankBreast cancerCohortEpidemiologyEnvironmental healthProspective cohort studyMedicineCancerInternal medicineBioinformaticsBiology

Abstract

fetched live from OpenAlex

BACKGROUND: The Breast and Ovarian Analysis of Disease Incidence Algorithm (BOADICEA) model predicts breast cancer risk using cancer family history, epidemiological, and genetic data. We evaluated its validity in a large prospective cohort. METHODS: We assessed model calibration, discrimination and risk classification ability in 217 885 women (6838 incident breast cancers) aged 40-70 years of self-reported White ethnicity with no previous cancer from the UK Biobank. Age-specific risk classification was assessed using relative risk thresholds equivalent to the absolute lifetime risk categories of less than 17%, 17%-30%, and 30% or more, recommended by the National Institute for Health and Care Excellence guidelines. We predicted 10-year risks using BOADICEA v.6 considering cancer family history, questionnaire-based risk factors, a 313-single nucleotide polymorphisms polygenic score, and pathogenic variants. Mammographic density data were not available. RESULTS: The polygenic risk score was the most discriminative risk factor (area under the curve [AUC] = 0.65). Discrimination was highest when considering all risk factors (AUC = 0.66). The model was well calibrated overall (expected-to-observed ratio = 0.99, 95% confidence interval [CI] = 0.97 to 1.02; calibration slope = 0.99, 95% CI = 0.99 to 1.00), and in deciles of predicted risks. Discrimination was similar in women aged younger and older than 50 years. There was some underprediction in women aged younger than 50 years (expected-to-observed ratio = 0.89, 95% CI = 0.84 to 0.94; calibration slope = 0.96, 95% CI = 0.94 to 0.97), which was explained by the higher breast cancer incidence in UK Biobank than the UK population incidence in this age group. The model classified 87.2%, 11.4%, and 1.4% of women in relative risk categories less than 1.6, 1.6-3.1, and at least 3.1, identifying 25.6% of incident breast cancer patients in category relative risk of at least 1.6. CONCLUSION: BOADICEA, implemented in CanRisk (www.canrisk.org), provides valid 10-year breast cancer risk, which can facilitate risk-stratified screening and personalized breast cancer risk management.

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)0.025
metaresearch head score (Gemma)0.063
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.025
Threshold uncertainty score0.131

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0250.063
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.050
GPT teacher head0.383
Teacher spread0.333 · 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 designObservational
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

Citations16
Published2024
Admission routes2
Has abstractyes

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