Expression and clinical significance of FANCI gene in pan-cancer: a comprehensive analysis based on multi-omics data.

INTRODUCTION

The FANCI gene, an essential element of the Fanconi anemia pathway, has been associated with a variety of cancer types. This investigation seeks to clarify the expression profiles, prognostic relevance, and diagnostic capabilities of FANCI across multiple malignancies, along with its links to immune cell infiltration, genetic alterations, protein-protein interactions, and functional roles.

METHODS

By utilizing data from The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) databases, we conducted a comprehensive analysis of FANCI mRNA expression using R software and visualized the results with the ggplot2 package. Prognostic and diagnostic evaluations were conducted using Xiantao tools to produce survival and receiver operating characteristic (ROC) curves. The examination of genetic variation was facilitated through cBioPortal, while DNA methylation and mRNA modifications were analyzed utilizing UALCAN and SangerBox 3.0. Correlations with immune responses were assessed via the EPIC platform and SangerBox 3.0. Additionally, we constructed protein-protein interaction networks employing the STRING database and Cytoscape software. Functional enrichment analyses encompassed Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Set Enrichment Analysis (GSEA). The CancerSEA database was also utilized for single-cell level investigation of FANCI's association with the functional states of cancer.

RESULTS

Our findings reveal that FANCI is significantly upregulated in the majority of tumor types when compared to normal tissues, with increased protein levels observed in several cancers, including colorectal adenocarcinoma (COAD) and pancreatic adenocarcinoma (PAAD). Elevated FANCI expression is associated with unfavorable prognoses in cancers such as adrenocortical carcinoma (ACC) and liver hepatocellular carcinoma (LIHC). Methylation assessments demonstrated a robust inverse correlation between FANCI promoter methylation and its expression in LIHC. Moreover, FANCI expression was found to be connected to immune cell infiltration and tumor mutation burden in select cancers.

DISCUSSION

In summary, FANCI presents as a promising biomarker for cancer prognosis and diagnosis, with potential implications for therapeutic interventions. Subsequent investigations should concentrate on elucidating the mechanistic functions of FANCI in cancer development and assessing its viability as a therapeutic target.