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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
Genetic Variations in TP53, RB1, and PTEN in a Selected Sample of Slovak Patients With Metastatic
Klaudia Hives Holeckova1,2, Mark Hives3, Marian Grendar2
1Department of Urology, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Comenius University in Bratislava, Martin, Slovakia.
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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