<i>BRCA1</i>Haploinsufficiency: Consequences for Breast Cancer
Bibliographic record
Abstract
Evaluation of: Konishi H, Mohseni M, Tamaki A et al. Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells. Proc. Natl Acad. Sci. USA 108(43), 17773–17778 (2011). In their study, Konishi et al. generate and study cell lines that carry one mutant and one normal copy of BRCA1. These heterozygous (noncancerous) cells are noteworthy in that they6 carry an increased number of copy number alterations and have diminished DNA repair capacity. These observations go beyond the classical two-hit hypothesis for inherited cancers, whereby the cell phenotype is normal until the second allele is lost through somatic mutation or epigenetic silencing. They propose that BRCA1 heterozygosity is associated with increased genomic instability, which accelerates the mutation rate of other critical genes, including the second copy of BRCA1. They conclude that BRCA1 is a haploinsufficient tumor suppressor gene, which when lost through inheritance, increases a cell's susceptibility to acquire further mutations.
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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 | 0.000 | 0.000 |
| 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 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| 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".