Mutation Analysis of a Mauritian Hereditary Breast Cancer Family Reveals the <i>BRCA2</i> 6503delTT Mutation Previously Found to Recur in Different Ethnic Populations
Bibliographic record
Abstract
Mauritius, a small island some 855 km off the east coast of Madagascar, has a multiethnic population of about 1.2 million with a high population density of about 611 per km(2). The recent industrialization of the island seems to have been accompanied, in less than 10 years, by an increase of at least 30% in breast cancer incidence. We have detected the BRCA2 6503delTT mutation in two sisters of the same family of Indian origin but living in Mauritius for at least five generations. This mutation has been found to recur in geographically diverse populations and haplotype analysis has shown a common ancestry. The haplotype of the mutation found in the Mauritian family differs from that found in other populations harbouring the same mutation, suggesting that the BRCA2 6503delTT mutation most likely arose independently.
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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 | 0.001 |
| 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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".