Bibliographic record
Abstract
Abstract Retinoblastoma is a malignant tumour that originates from cone precursors of the developing retina and is usually diagnosed in children under age of 5 years. This tumour emerges from cells with inactivating alterations of both alleles of the tumour suppressor gene RB1 . In nonheritable retinoblastoma, these two alterations have occurred in somatic cells and are not passed to offspring. Variant alleles of the RB1 gene transmitted via the germline cause heritable predisposition to retinoblastoma and some other neoplasms (second cancers). In families, this trait shows autosomal dominant inheritance with variable phenotypic expression and incomplete penetrance. Analysis of genotype–phenotype associations has shown that the mean number of tumour foci that develop in carriers of mutant RB1 alleles varies depending on which, and to what extent the mutant allele has retained functions of the normal allele. The RB1 gene product, pRb, has a role in several cellular processes. One of its functions is to be a gatekeeper that negatively regulates progression through G 1 phase of the cell cycle. The RB1 gene is imprinted and this may explain some of the observed parent‐of‐origin effects. Key Concepts Two‐step inactivation of the retinoblastoma gene ( RB1 ) is a prerequisite for the development of retinoblastoma. Germ‐line variants in the RB1 gene can cause heritable retinoblastoma that is transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. Variable phenotypic expression of heritable retinoblastoma is in part explained by allelic heterogeneity of RB1 gene variants. In patients with nonheritable retinoblastoma, the two alleles of the retinoblastoma gene are inactivated by somatic mutations. The human RB1 gene is imprinted with skewed expression in favour of the maternal allele.
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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 | 0.002 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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 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".