BRCA mutations and prostate cancer: should urologist improve daily clinical practice?
Bibliographic record
Abstract
INTRODUCTION: To evaluate BRCA1-2 (breast cancer) detection in men with high risk PCa, including the oncological consequences for the patient and family members. MATERIALS AND METHODS: From January 2023 to December 2024, 52 men (median age 73 years;) with confirmed PCa diagnosis underwent somatic and germline BRCA1 and BRCA2 assessment; 11/52 (21%) patients documented a family history of cancer. Patients were at different clinical stages: high-grade (71% had a Gleason score ≥ 8), locally advanced (54% of cases) and/or metastatic PCa (46% of cases) at initial diagnosis, hormone-sensitive and/or castration-resistant PCa (38.2% of cases) at clinical progression. Formalin-fixed paraffin-embedded (FFPE) tissues and next generation sequencing (NGS) analyses of BRCA genes were evaluated on 52 samples (prostate biopsies or definitive samples) collected at Gravina Hospital (Caltagirone, Italy) from different Sicilian pathology departments. The therapeutic and clinical impact of genetic testing for BRCA somatic and germline mutations was evaluated for patients and their families. RESULTS: All FFPE cases were successfully genotyped, with a good library and sequencing CQ metrics for all genes of interest; 10/52 (19.2%) patients had somatic or germline BRCA mutations, specifically, 3/52 (5.7%) had somatic and 7/52 (13.5%) had germline mutations. In the seven cases with germline variants, 4/7 (57%) had a family history of PCa or other diseases, while the remaining 3/7 (43%) patients had no hereditary predisposition. All identified genetic variants were related to the BRCA2 gene; after genetic screening of the corresponding relatives, various members of the analysed families carried the mutation identified in the proband, so that cancer prevention and/or active surveillance was possible. CONCLUSIONS: NGS analysis for BRCA genetic testing using FFPE tissue in the clinical setting of patients with high-grade and/or metastatic PCa appears to be a valuable tool, not only for therapeutic purposes, but also to identify families with genetic predisposition who may be underdiagnosed according to canonical criteria.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| 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".