Pathogenic Variant BRCA2 c.7008-2A>T in a 66-year-old Man with Metastatic Castration-resistant Prostate Cancer: a Case Report from Kazakhstan
Dauyey K. Abdikerim S. Yergali K. Gassanov Z. Zhunussova A. Skvortsova L. Zhunussova G.
2025National Scientific Medical Center
Journal of Clinical Medicine of Kazakhstan
2025#22Issue 484 - 88 pp.
Prostate cancer has a high association with disruption in DNA repair genes. In this case report, we describe a 66-year-old man diagnosed with advanced prostate cancer from Kazakhstan. Genetic testing identified a likely pathogenic BRCA2 c.7008-2A>T variant (rs81002823), which is known to disrupt nuclear DNA repair mechanisms and has a clinical association with prostate cancer with familial predisposition. We used computational tools, including SpliceAI, to predict the molecular impact of the variant on the gene expression and disease pathogenesis. We discuss the clinical significance of this variant and the role of targeted therapies such as Poly ADP-ribose polymerase (PARP) inhibitors for familial cancer patients with germline variants affecting BRCA1 and BRCA2. We want to demonstrate the role of genetic testing in prostate cancer management to inform personalized treatment strategies and improve family outcomes.
Advanced stage , BRCA2 variant , DNA sequencing , Genetic testing , Kazakhstan , Lutetium-177 PSMA , PARPi , Prostate cancer
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Laboratory of Molecular Genetics, RSE Institute of Genetics and Physiology of the SC MSHE RK, Almaty, Kazakhstan
Department of Medicine, School of Medicine, Nazarbayev University, Astana, Kazakhstan
Department of Molecular Biology and Genetics, Al-Farabi Kazakh National University, Almaty, Kazakhstan
Urologic oncology center, Kazakh Institute of Oncology and Radiology, Almaty, Kazakhstan
Laboratory of Molecular Genetics
Department of Medicine
Department of Molecular Biology and Genetics
Urologic oncology center
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