BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder: Table 1.
Bibliographic record
Abstract
Three BRCA1/2 mutations ( 185delAG and 5382insC in BRCA1 , and 617delT in BRCA2 ) are present in about 2.5% of the Ashkenazi Jewish population,1–4 and in 10–12% of Ashkenazi Jewish women with breast cancer.5 Mutations that become common in a population are often explained by the presence of a “founder effect”. This effect tends to exist when a population is established by a small group of ancestors. The members of the group are called founders and become isolated from the original population from which they are derived on account of geographical, cultural, or linguistic barriers. If this isolation persists, genetic drift can cause disease producing alleles present in the founders to become more frequent in subsequent generations. The San Luis Valley (SLV) is a large, isolated valley situated on the border between New Mexico and Colorado. The first settlers were Spaniards of the de Onate expedition in 1598, but today it has an admixed population descended from Native Americans, West Africans, and Europeans.6 A previous study in Colorado of breast cancer patients with SLV ancestry revealed the presence of a hereditary breast cancer mutation, BRCA1 : 185delAG .7 Many of these individuals came from areas of Spanish settlement in what is now northern New Mexico, an area known to have had a number of Spanish settlers with Jewish heritage. This population remained fairly coherent until the mid-1900s, which would have allowed the fixation of certain mutations in the population through the founder effect.8 The 185delAG mutation (c.68_69del2) is a founder mutation in the Ashkenazi Jewish population and is the most common BRCA1 mutation in this population, with a frequency of 1%.2,3 Markers flanking this mutation have conserved alleles among Ashkenazi carriers, allowing for the construction of a distinct, linked haplotype.4 In this …
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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 | 0.000 |
| 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 | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.007 | 0.001 |
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".