Locating a Prostate Cancer Susceptibility Gene on the X Chromosome by Linkage Disequilibrium Mapping Using Three Founder Populations in Quebec and Switzerland
Bibliographic record
Abstract
At the Montreal site, 240 participants (195 cases) have consented to participate and 230 participants (185 cases) had their blood drawn. The pedigrees for cases and some controls have been drawn. Ishihara charts were shown to all cases and controls and the results were recorded. At the Switzerland site, case ascertainment is complete and 250 patients have been contacted; 185 have had a consultation with a DNA sampling. As the X chromosome gene has proved to be elusive, we have focused our attention on candidate genes and have studies CHEK2, PALB2, BRCA1, BRCA2 as well as other candidate genes in this series of cases. We have identified several novel mutations in CHEK2 and PALB2, but none of these mutations appear to be thus far associated with prostate cancer risk. Other known mutations, such as BRCA1: 187delAG and BRCA2: 6174delT do not appear to be more frequent in men with prostate cancer. Our work did not support the initial suggestion that some Ashkenazi Jewish men with prostate cancer carried a prostate cancer-associated allele on chromosome 7q. Prostate cancer genetics remains a difficult area of research; our work has mainly eliminated various candidate genes rather than identify causative mutations in prostate cancer susceptibility genes.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 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".