Origin and distribution of the BRCA2-8765delAG mutation in \nbreast cancer
Bibliographic record
Abstract
Background: The BRCA2-8765delAG mutation was firstly described in breast cancer families from \nFrench-Canadian and Jewish-Yemenite populations; it was then reported as a founder mutation in \nSardinian families. We evaluated both the prevalence of the BRCA2-8765delAG variant in Sardinia \nand the putative existence of a common ancestral origin through a haplotype analysis of breast \ncancer family members carrying such a mutation. \nMethods: Eight polymorphic microsatellite markers (D13S1250, centromeric, to D13S267, \ntelomeric) spanning the BRCA2 gene locus were used for the haplotype analysis. Screening for the \n8765delAG mutation was performed by PCR-based amplification of BRCA2-exon 20, followed by \nautomated sequencing. \nResults: Among families with high recurrence of breast cancer (⥠3 cases in first-degree relatives), \nthose from North Sardinia shared the same haplotype whereas the families from French Canadian \nand Jewish-Yemenite populations presented distinct genetic assets at the BRCA2 locus. Screening \nfor the BRCA2-8765delAG variant among unselected and consecutively-collected breast cancer \npatients originating from the entire Sardinia revealed that such a mutation is present in the \nnorthern part of the island only [9/648 (1.4%) among cases from North Sardinia versus 0/493 \namong cases from South Sardinia]. \nConclusion: The BRCA2-8765delAG has an independent origin in geographically and ethnically \ndistinct populations, acting as a founder mutation in North but not in South Sardinia. Since BRCA2- \n8765delAG occurs within a triplet repeat sequence of AGAGAG, our study further confirmed the \nexistence of a mutational hot-spot at this genomic position (additional genetic factors within each \nsingle population might be involved in generating such a mutation).
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".