Investigation of the BRCA2 gene SNP (rs144848) in prostate cancer patients with elevated PSA readings

Background: Prostate cancer is the most commonly diagnosed male malignancy worldwide and a leading cause of cancer-related death in men. Germline variants in DNA-repair genes, particularly BRCA2, are established modifiers of prostate-cancer risk and aggressiveness, yet data from Iraqi populations remain scarce. This study aimed to investigate the frequency of the BRCA2 rs144848 (c.1114C>A; p.Asn372His) polymorphism in Iraqi men with prostate cancer and elevated serum PSA, and to compare it with healthy controls. Design: A case-control study was conducted on 11 men with histologically confirmed prostate cancer and elevated PSA levels (>4 ng/mL) and 10 age-matched apparently healthy male controls recruited from a hospital in Erbil, Kurdistan Region, Iraq. Peripheral blood specimen was used for genomic DNA extraction and the BRCA2 rs144848 variant was detected using allele specific polymerase chain reaction (PCR) with 2% agarose gel electrophoresis. Demographic and clinical variables were analysed descriptively. Results: The variant of BRCA2 (rs144848) was found in all 11 prostate-cancer patients (100%) and all 10 controls (100%). There were no variant-negative persons found in either group. Demographic analysis revealed that the majority were aged between 66–82 years, with the blood group B+ being the most common (36.4%) and serum PSA levels between 1.74–19.68 ng/mL. In conclusion, the lack of significant association between the common BRCA2 polymorphism rs144848 with prostate cancer in the investigated Iraqi population may not be detected. Together, these results emphasize the importance of using full-sequence BRCA2 testing, not single SNPs, as clinically relevant pathogenic variants were identified in this cohort through full-sequence testing.