Meeting abstracts from the Annual Conference on Hereditary Cancers 2016
Bibliographic record
Abstract
2):A1We tested over 20, 000 genes by whole-exome sequencing in 144 Polish women with breast cancer from families with strong aggregation of this tumor.We identified a new breast cancer susceptibility gene (RECQL).In Poland, there is one major founder mutations of RECQL.Our results suggest that the risk of breast cancer among the carriers is increased over 5-fold.In addition, we detected two PALB2 founder mutations in our population which predispose to poor prognosis breast cancer.Over half of breast cancer patients with a PALB2 mutation died within 10 years from the diagnosis.The survival among women with breast cancer caused by mutations of PALB2 strongly depended on tumor size.Among mutation carriers with tumors smaller than 2 cm, 10-year survival was 82%.In contrast, among mutation carriers with tumors greater than 2 cm 10-year survival was only 32%.In summary, our research enabled to identify new determinants (inherited mutations) for breast cancer, the most common malignant tumor in women.
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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 | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.224 | 0.106 |
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".