Objectives: The study aims to characterize BRCA1/2 mutations in Pakistani gastric cancer (GC) patients, identifying unique pathogenic variants and evaluating their potential as diagnostic biomarkers, while also exploring therapeutic avenues for personalized treatment strategies.
Methodology: In this study, we investigated the role of Breast Cancer gene 1 (BRCA1) and Breast Cancer gene 2 (BRCA2) mutations in Pakistani GC patients and their functional implications using Next-Generation Sequencing (NGS).
Results: Through NGS, we identified a total of 19 mutations in BRCA1 and 11 mutations in BRCA2, all with high mutation quality scores.
Objectives: Prominin 2 (PROM2) gene has been reported as a molecular biomarker of human cancers; however, its role is still controversial. This study was therefore arranged to seek the role of PROM2 in different cancers with Bioinformatics and in vitro analyses.
Methods: A combination of bioinformatics and molecular experiments.
Background: Although evidence regarding pituitary tumor-transforming 3, pseudogene (PTTG3P) involvement in human cancers has been acquired via human and animal model-based molecular studies, there is a lack of pan-cancer analysis of this gene in human tumors.
Methods: Tumor-causing effects of PTTG3P in 24 human tumors were explored using The Cancer Genome Atlas (TCGA) datasets from different bioinformatics databases and applying in silico tools such as The University of ALabama at Birmingham CANcer (UALCAN), Human Protein Atlas (HPA), Kaplan Meier (KM) plotter, cBioPortal, Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), Cytoscape, Database for Annotation, Visualization, and Integrated Discovery (DAVID), Tumor IMmune Estimation Resource (TIMER), and Comparative Toxicogenomics Database (CTD). Then, via in vitro experiments, including RNA sequencing (RNA-seq) and targeted bisulfite sequencing (bisulfite-seq), expression and promoter methylation levels of PTTG3P were verified in cell lines.