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.
Tuberculosis (TB) is a critical disease that predominantly affects the lungs. This disease remains a global health threat. Currently, the incidence of TB is estimated to be 92 cases in every 100 000 population. However, latent TB infection (LTBI) cases among Malaysians are another great health concern that requires immediate steps to be taken to detect, diagnose, and treat LTBI as one of the key strategies to end TB. Although individuals with LTBI are unlikely to infect others, the threat of infection is still imminent as these individuals can potentially develop into active TB cases. As such, this study aims to identify the prevalence of LTBI among asymptomatic individuals that underwent QuantiFERON®-TB Gold Plus test from a private laboratory in Malaysia to determine the association between the risk factors and the detected LTBI cases. A retrospective study was conducted by analyzing the archive records of 3 877 samples from January 2021 to March 2022. The cases underwent QuantiFERON®-TB Gold Plus tests for LTBI at Premier Integrated Labs. This study underlines that those who were LTBI positive had a prevalence of 638/3 877 (16.46%) with males contributing to 343/638 cases (53.76%). Furthermore, the majority of the positive cases were between the age of 30-43 years old with 197/638 (30.88%), and Chinese ethnicity with 225/638 (35.27%). The risk factors significantly associated with LTBI cases were age (p = 0.001) and ethnicity (p = 0.001). The prevalence of LTBI determined through this study is considered remarkably low for an intermediate TB burden country. Although LTBI is not contagious, specific clinical and preventative considerations are needed for the diagnosis, treatment, and implementation of appropriate safety measures to curb the spread of TB in Malaysia.