Pan-Cancer Genetic Analysis of Mitochondrial DNA Repair Gene Set

Abstract

Background: The mitochondrial DNA repair has gained attention for its potential impact on pan-cancer genetic analysis. This study investigates the clinical relevance of mitochondrial DNA repair genes: PARP1, DNA 2, PRIMPOL, TP53, MGME1. Methods: Using multi-omics profiling data and Gene Set Cancer Analysis (GSCA) with normalized SEM mRNA expression, this research analyzes differential expression, gene mutation, and drug correlation. Results: TP53 was the most commonly mutated mitochondrial-related gene in cancer, with UCS and OV having the highest mutation rates. CPG mutations linked to lowest survival rates. Breast cancer, with various subtypes, was potentially influenced by mitochondrial DNA repair genes. ACC was shown to be high in gene survival analysis. BRCA, USC, LUCS, COAD, and OV showed CNV levels impacting survival. A negative gene expression-methylation correlation was observed and was weakest in KIRC. Mitochondrial DNA repair genes were linked to Cell cycle_A activation. A weak correlation was found between immune infiltration and mitochondrial genes. Few drug compounds were shown to be affected by mitochondrial-related genes. Conclusion: Understanding mitochondrial-related genes could redefine cancer diagnosis, and prognosis, and serve as therapeutic biomarkers, potentially altering cancer cell behavior and treatment outcomes.