Bibliographic record
Abstract
Genetic counseling aims to identify hereditary cancer syndromes that potentially include all primary tumors of the digestive tract but which are dominated by hereditary forms of colorectal cancers. The identification of a germline pathogenic variant in the index case enables us to diagnose genetic predisposition and to offer genetic testing to relatives. This approach can also lead to a “theranostic” issue, due to a particular tumor molecular phenotype likely to impact the natural history of tumors and their sensitivity to different therapies. Recent years have seen the identification of new predisposition syndromes, particularly in the field of colorectal adenomatous polyposis. This is also thanks to technological evolutions (NGS, next-generation sequencing) and to the significant development of tumor genetics, which have led to modification of both the genetic testing strategy and the criteria for referring patients to an oncogenetic clinic. The aim of this review is to describe the “fundamentals” of the different syndromes. It also sheds light on new data and the current dynamics in our discipline that interact closely with tumor genetics, medical oncology, and gastroenterology.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.002 | 0.018 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.023 | 0.034 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.003 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.025 | 0.003 |
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".