Implications of BRCA Testing in a 27-Year-Old Breast-Feeding Mother With a Strong Family History of Malignancy
Bibliographic record
Abstract
Confidence in identifying and ease of testing for BRCA1 and BRCA2 gene mutations has led to general clinicians ordering BRCA1 and BRCA2 mutations testing more frequently than other cancer genetic tests. When present, these mutations increase breast and ovarian cancer risk dramatically as well as several other cancers. In years past, identification of mutations was saved for an older high-risk patient population; data supporting current management recommendations studied a population mirroring that group. Now, an increasingly younger patient population is having the mutation identified and facing increasingly complicated decisions regarding lifetime risk. Presented here is a case of a 27-year-old breast-feeding mother of two with a strong breast cancer family history, who was found to have an enlarged lymph node and newly identified with a BRCA1 gene mutation. Current recommendation for screening and breastfeeding are presented as well as psychological implication on this increasingly young BRCA1 and BRCA2 gene mutation positive population. J Med Cases. 2013;4(6):372-375 doi: https://doi.org/10.4021/jmc1148w
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 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".