Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes
Bibliographic record
Abstract
An important subset of colorectal cancer (CRC) is caused by rare pathogenic variants in more than 20 high-risk genes,1–3 The National Comprehensive Cancer Network clinical practice guidelines (2022) recommend that physicians consider multigene panel testing for these high-risk genes in all newly diagnosed CRC patients2,3 to identify carriers of pathogenic variants and promote testing of family members who may also be carriers and would benefit from increased screening for CRC prevention. However, clinical challenges remain, such as (1) understanding the risk of CRC associated with individual variants within high-risk genes and (2) for recessively inherited CRC genes, where both alleles of the gene are defective (biallelic) because of the same pathogenic variant (homozygous carriers) or 2 different pathogenic variants (compound heterozygote carriers), understanding if CRC risk is increased if only 1 pathogenic variant is present (monoallelic carriers).
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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 | 0.001 | 0.009 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.005 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.008 | 0.002 |
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".