Publications by authors named "Klaudia Holeckova"
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 Synopsis
- The cell cycle is a regulated sequence of events involving cell growth and division, primarily controlled by cyclin-dependent kinases (CDKs) and cyclins.
- CDKs are activated by cyclins to form complexes, which are essential for progressing through the cell cycle, but their activity can be inhibited by specific proteins called CDK inhibitors.
- Dysregulation of these processes can lead to uncontrolled cell proliferation, a key characteristic of cancer development.
Background/aim: Our aim was to investigate possible influences of genetic variants in genes involved in the G/S transition [cyclin-dependent kinase-2 (CDK2), cyclin E1 (CCNE1) and cyclin-dependent kinase inhibitor 1B (p27)] on the expression/activity of their corresponding proteins and to assess the functional impact of these variants on the risk of prostate cancer.
Materials And Methods: We genotyped 530 cases and 562 healthy controls for two relevant single nucleotide polymorphisms (CDK2 rs2069408 and CCNE1 rs997669) by TaqMan genotyping assay. p27 rs2066827 polymorphisms were studied by polymerase chain reaction-restriction fragment length polymorphism assay.
Background/aim: The aim of this study was to analyse the genetic profiles of metastatic castration-resistant prostate cancer (mCRPC) by using next generation sequencing to identify variants with pathogenic potential in nine DNA repair genes - BRCA1, BRCA2, RAD50, RAD51, RAD51C/D, ATM and ATR.
Materials And Methods: Isolated genomic DNA from peripheral blood of 50 patients with mCRPC was used for the sequencing of 111 genes associated with hereditary cancer on an Illumina platform. Identified variants were tested in Integrative Genomic Viewer, their clinical significance confirmed in databases and their potential impact on protein function predicted by in silico tools.