Research trends and hotspots of single nucleotide polymorphisms in endometrial cancer: a bibliometric analysis

Endometrial cancer (EC) is a common gynecological malignancy with increasing incidence, especially in developed nations. Understanding genetic variations, particularly single nucleotide polymorphisms (SNPs), is crucial for uncovering the disease's pathogenesis, progression, and treatment responses. This study explores the global research landscape of SNPs in EC, focusing on field evolution, key contributors, and emerging trends.

A systematic search of the Web of Science Core Collection (WoSCC) retrieved 838 publications on SNPs in EC from 1991 to 2024. Bibliometric indicators, including publication volume, citation counts, and keyword occurrences, were analyzed using VOSviewer, CiteSpace, and the R package "bibliometrix" for visual mapping and trend analysis.

The United States (230 publications) and China (182 publications) were leaders in research output. Harvard University and the National Cancer Institute were prominent contributors. Key themes included "microsatellite instability" (a hallmark of DNA mismatch repair deficiency) and "genome-wide association studies" (GWAS), identifying susceptibility loci like HNF1B and CYP19A1. Recent trends, such as "Mendelian randomization," have enhanced causal inference in risk factor studies. SNP research has advanced risk prediction models and personalized therapeutic strategies, such as hormone therapy tailored to genetic profiles.

SNP research has deepened our understanding of EC's genetic basis, with a growing emphasis on Mendelian randomization and GWAS. These advancements have refined risk prediction and opened new avenues for personalized medicine. Integrating SNP data with environmental and hormonal factors remains crucial for advancing prevention, diagnosis, and treatment strategies in EC.