A247 RECOGNITION OF LYNCH SYNDROME AMONGST NEWLY DIAGNOSED COLORECTAL CANCER AT ST. PAUL’S HOSPITAL
Bibliographic record
Abstract
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Numerous strategies exist for identifying patients with LS. In British Columbia, clinical criteria (Amsterdam II criteria, Revised Bethesda guidelines, or the BC Cancer Agency’s Hereditary Cancer Program (BCCA HCP) criteria) are first used to determine who should undergo further first-line testing in the form of microsatellite instability (MSI) testing or immunohistochemistry (IHC) staining. Limitations exist with this strategy, including ease of access and, consequently, LS is thought to be under-recognized. The purpose of this study is to investigate whether LS is truly under-recognized when compared to the reported prevalence and, if so, identify what factors are contributing to this. A retrospective chart review of all CRC diagnosed at St. Paul’s Hospital from 2010–2013 was conducted. The list of all CRC was obtained through St. Paul’s Hospital Department of Pathology after ethics approval. Of 246 patients who met inclusion criteria, 96% (235 of 246) had a family history available in their chart. 76% (83 of 109) with a family history of malignancy were unable to recall the specific malignancy or age of diagnosis. 18% (45 of 235) were apparently only asked about a history of gastrointestinal related malignancy and 26% (65 of 246) met at least one of the three clinical criteria but only 21% (13 of 63) received further investigation in the form of MSI testing, IHC staining, or BCCA HCP referral. When compared to the entire study population, patients who received further testing had a statistically significant younger age (66 vs. 49, p<0.01), past medical history of malignancy (0.16 vs. 0.38, p=0.03) and family history of malignancy (0.46 vs. 0.92, p<0.01). Only 1.6% (4 of 246) were found to have LS compared to the reported prevalence of 2–5% of all CRC. This data supports our hypothesis that LS is under-recognized. Contributing factors include poor recollection of family histories by patients, incomplete family histories by physicians, and under-investigation for those at risk of LS which we speculate is, in part, due to difficulty accessing MSI-testing and IHC staining. The present system of reliance on histories and patients to report their family histories appear to be inadequate and need modification. A system such as that suggested by the latest AGA Guidelines where all cancers are universally tested needs implementation to minimize the risk of missing LS patients. St. Paul’s Hospital GI Research Institute
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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 | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 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".