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 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 | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 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".