Germline MYH mutations and colorectal cancer risk population-based and clinic-based studies
Bibliographic record
Abstract
In a clinic-based study we examine the prevalence of germline MYH mutations in multiple colorectal adenoma patients. Homozygous and compound heterozygous germline MYH mutations were identified in 30% of patients, and 67% carried mutations other than Y165C and G382D. Our results indicate that MYH mutation screening in patients with multiple colorectal adenomas should include the entire MYH gene. Mutations in the MYH gene, a member of the base excision repair pathway, have been associated with the development of colorectal adenomas and cancer as an autosomal recessive disease. In a population-based study of colorectal cancer cases and healthy controls we demonstrate an association between germline MYH mutations and an increased risk of colorectal cancer, and provide evidence for a moderate increased risk in heterozygous carriers that suggests a codominant mode of transmission. We conclude that MYH mutations may account for 1.7% of all colorectal cancer cases in Ontario.
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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 | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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 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".