Pathogenic Variant BRCA2 c.7008-2A>T in a 66-year-old Man with Metastatic Castration-resistant Prostate Cancer: a Case Report from Kazakhstan

Kaisar Dauyey 1 2, Saltanat Abdikerim 1 3, Kanagat Yergali 1, Ziyo Gassanov 4, Aigul Zhunussova 1, Liliya Skvortsova 1, Gulnur Zhunussova 1 *
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1 Laboratory of Molecular Genetics, RSE "Institute of Genetics and Physiology" of the SC MSHE RK, Almaty, Kazakhstan
2 Department of Medicine, School of Medicine, Nazarbayev University, Astana, Kazakhstan;
3 Department of Molecular Biology and Genetics, Al-Farabi Kazakh National University, Almaty, Kazakhstan
4 Urologic oncology center, Kazakh Institute of Oncology and Radiology, Almaty, Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 22, Issue 4, pp. 84-88. https://doi.org/10.23950/jcmk/16588
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Author Contributions: Conceptualization, K. D.; methodology, G. Z. and Z. G.; validation, S. A., K. Y.; formal analysis, L.S.; investigation, S. A., K. Y. and Z. G.; resources, A. Z.; data curation, L. S.; writing – original draft preparation, K. D., G. Z., A. Z. and S. A.; writing – review and editing, K. D. and G. Z.; visualization, K. D.; supervision, L. S.; project administration, G. Z.; funding acquisition, G. Z. All authors have read and agreed to the published version of the manuscript.

Informed Consent: We received written informed consent from the patient to participate in the study. A copy of the written informed consent is available upon request from the corresponding author.

Data availability statement: The corresponding author can provide the data supporting the study's conclusions upon request. Due to ethical and privacy constraints, the data are not publicly accessible.

ABSTRACT

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.
Keywords: Prostate cancer, Advanced stage, BRCA2 variant, Lutetium-177 PSMA, PARPi, DNA sequencing, Genetic testing, Kazakhstan.

CITATION

Dauyey K, Abdikerim S, Yergali K, Gassanov Z, Zhunussova A, Skvortsova L, et al. Pathogenic Variant BRCA2 c.7008-2A>T in a 66-year-old Man with Metastatic Castration-resistant Prostate Cancer: a Case Report from Kazakhstan. J CLIN MED KAZ. 2025;22(4):84-8. https://doi.org/10.23950/jcmk/16588

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