Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers
Bibliographic record
Abstract
Polygenic risk scores (PRS) have been shown to be predictive of breast cancer (BC) risk in European BRCA1 and BRCA2 pathogenic variant (PV) carriers, but their utility in Asian populations has not been evaluated. In this study, we evaluated the association of two breast cancer PRS developed for the East Asian general population and three versions of a PRS developed for the European general population in 604 BRCA1 (390 affected by breast cancer) and 785 BRCA2 (552 affected by breast cancer) PV female carriers of Asian ancestry. Only the Asian-based PRS, constructed using approximately 1 million single-nucleotide variations (SNVs), showed a significant association with breast cancer risk (Hazard Ratio per standard deviation (95% Confidence Interval) is 1.47 (1.10-1.95) for BRCA1 and 1.43 (1.04-1.95) for BRCA2). Incorporating this PRS into risk prediction models may improve cancer risk assessment among PV carriers of Asian ancestry.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.007 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".