Prostate-Related Germline Variant Frequencies Detected in a Cohort of Men With Metastatic Prostate Cancer in Northern India
Bibliographic record
Abstract
PURPOSE Although prostate cancer is generally associated with favorable outcomes, metastatic disease remains incurable. Additionally, a subset of individuals with high-risk or metastatic disease are likely to harbor at least one germline variant in known prostate cancer association genes. Because of differences in cohort selection and sequencing strategies, the prevalence of germline variants in global populations is unclear. METHODS A whole-exome sequencing (WES) approach was used to explore germline variants in a cohort of patients with metastatic prostate cancer from India. In total, 276 individuals treated at the All India Institute of Medical Sciences in New Delhi, India, were prospectively and consecutively recruited. Blood specimens underwent standard WES and bioinformatic analysis to determine the prevalence of pathogenic and likely pathogenic (PV/LPV) prostate cancer variants, which were then assessed for associations with clinical features. RESULTS In total, PV/LPVs were detected in 11% of individuals across eight genes linked to prostate cancer, most frequently in BRCA2 (3.98%). The distribution reflects previously published findings from other global cohorts, although frequencies in the prevalence of specific variants differ slightly. No relationship between variant status and clinical features were detected, although analysis of a larger cohort may show otherwise. CONCLUSION These results indicate that germline screening for prostate cancer following existing guidelines yield similar variant detection frequencies when focusing on individuals with metastatic disease in the Indian context. In summary, some men are more likely to develop an advanced form of metastatic prostate cancer than others because of differences in their genes, known as variants. This study looked at the how many of these variants are in a group of patients from India. We found that the number of variants in this group was similar to those from other parts of the world, including more found in a gene called BRCA2 .
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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) | 0.001 | 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) | 0.000 | 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".