Hamidreza  Saeidi; Chandramathi Samudi  Raju; Patimah  Ismail; Sayyidi Hamzi Abdul  Raub; Noorjehan  Omar; ikmal Hisyam Bakrin

doi:10.14715/cmb/2022.68.8.4

Issue

Vol. 68 No. 8: Issue 8

Issue Published : February 8, 2023

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Homologous recombination repair gene mutations in Malaysian prostate cancer patients

Gene mutations in Malaysian prostate cancer

https://doi.org/10.14715/cmb/2022.68.8.4

Hamidreza Saeidi

Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia

Chandramathi Samudi Raju

Department of Medical Microbiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Patimah Ismail

Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia

Sayyidi Hamzi Abdul Raub

Cytogenetics and Molecular Diagnostic Laboratory (CMDL), Pantai Premier Pathology Sdn 11 Bhd, Jalan Bukit Pantai, 59100 Kuala Lumpur, Malaysia, Selangor, Malaysia

Noorjehan Omar

Department of Pathology, Hospital Serdang, Jalan Puchong, 43000 Kajang, Malaysia

ikmal Hisyam Bakrin

Department of Pathology, Faculty of Medicine and Health Sciences, Putra Malaysia University, Serdang, Malaysia

Corresponding Author(s) : ikmal Hisyam Bakrin

ikmalhisyam@upm.edu.my

Cellular and Molecular Biology, Vol. 68 No. 8: Issue 8
Article Published : August 31, 2022

Abstract

Genetic alterations in the homologous recombination repair (HRR) genes are associated with an increased risk of prostate cancer development, and patients harboring these mutations can benefit from targeted therapy. The main aim of this study is to identify genetic alterations in HRR genes as a potential target for targeted treatment. In this study, targeted next generation sequencing (NGS) is used to analyze mutations in the protein-coding regions of the 27 genes involved in HRR and mutations in hotspots of 5 cancer-associated genes in four FFPE samples and three blood samples from prostate cancer patients. We identified two mutations in TP53 and KRAS. We also identified four conflicting interpretations of pathogenicity variants in BRCA2, STK11 genes and one variant of uncertain significance in the RAD51B gene. In addition, we detected one drug response variant in TP53, and two novel variants in CDK12 and ATM. Our results revealed some actionable pathogenic and potential pathogenic variants that may be associated with response to the Poly (ADP-ribose) polymerase (PARP) inhibitor treatment. More studies in a larger cohort are needed to evaluate and determine the association of HRR mutations with prostate cancer.

Keywords

prostate cancer, next generation sequencing, homologous recombination repair, mutations

Saeidi, H. ., Raju, C. S. ., Ismail, P. ., Raub, S. H. A. ., Omar, N. ., & Hisyam Bakrin, ikmal. (2022). Homologous recombination repair gene mutations in Malaysian prostate cancer patients: Gene mutations in Malaysian prostate cancer . Cellular and Molecular Biology, 68(8), 22–26. https://doi.org/10.14715/cmb/2022.68.8.4