AI Article Synopsis
- * Researchers used next generation sequencing on 50 patients to find 15 genetic alterations, finding that one variant (TP53) might help protect against a specific tumor marker (AR-V7) which increases PSA levels.
- * The findings suggest that these genetic mutations and PSA levels could help predict the presence of AR-V7 in these patients, although the predictive power is moderate.
Article Abstract
Background/aim: This report aimed to present identified variants with pathogenic potential in three genes - TP53, PTEN, and RB1 - in a selected sample of patients with metastatic castration-resistant prostate cancer (mCRPC) with or without the presence of circulating tumor cells (CTCs) and splice variant AR-V7.
Materials And Methods: Next generation sequencing was performed on an Illumina platform to analyse the genetic profiles of 50 patients with mCRPC. Identified variants were validated using the Integrative Genomic Viewer, and the correlation between these variants and the presence of CTC/AR-V7 was subjected to statistical analysis.
Results: The study revealed a total of 15 genetic alterations in the three examined genes. The presence of rs1042522 (TP53) in mCRPC patients was associated with a significantly reduced likelihood of AR-V7 occurrence (p<0.001), indicating a protective effect. Additionally, patients with AR-V7 showed a marked increase in prostate-specific antigen (PSA) levels. Higher PSA levels were correlated with an increased risk of AR-V7 presence.
Conclusion: The identified genetic mutations and PSA levels have a moderate predictive ability for determining AR-V7 status.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11535959 | PMC |
| http://dx.doi.org/10.21873/invivo.13737 | DOI Listing |
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