Detection of cancer-associated gene mutations in urinary cell-free DNA among prostate cancer patients in South Africa
Additional information
Authors
Oluwaseyi Temilola D.,
Wium M.,
Paccez J.,
Samkele Salukazana A.,
Rotimi S. O.,
Otu H. H.,
Carbone G.,
Kaestner L.,
Cacciatore S.,
Zerbini L. F.
Type
Journal Article
Year
2023
Language
English
Abstract
Prostate cancer (PCa) is the most common cause of cancer death among African men. The presence of tumor-specific variations in cell-free DNA (cfDNA), such as mutations, microsatellite instability, and DNA methylation, has been explored as a source of biomarkers for cancer diagnosis. In this study, we investigated the diagnostic role of cfDNA among South African PCa patients. We performed whole exome sequencing (WES) of urinary cfDNA. We identified a novel panel of 31 significantly deregulated somatic mutated genes between PCa and benign prostatic hyperplasia (BPH). Additionally, we performed whole-genome sequencing (WGS) on matching PCa and normal prostate tissue in an independent PCa cohort from South Africa. Our results suggest that the mutations are of germline origin as they were also found in the normal prostate tissue. In conclusion, our study contributes to the knowledge of cfDNA as a biomarker for diagnosing PCa in the South African population.
Keywords
fDNA, Prostate cancer, South Africa, WGS, SNVs
Journal
Genes
Volume
14
Number ( Month )
10
Pages (or article number)
1884
Diffusion
License
CC BY
Visibility
Public
Status open access
Gold
