Meeting abstracts from the Annual Conference on Hereditary Cancers 2016
Bibliographic record
Abstract
We 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 distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".