Objective To conduct a visual analysis of the literature related to Mendelian randomization (MR) studies in the field of cancer based on CiteSpace software.

Methods English literature on MR studies in the field of cancer was searched in the Web of Science Core Collection database, and Chinese literature was searched in CNKI, Wanfang Data, and VIP databases. The search period ranged from the inception of the databases to April 18, 2024. CiteSpace 6.3.R1 software was used to perform a visual analysis of the publication trends, authors, institutions, and keywords of the included literature through knowledge mapping.

Results A total of 964 English articles and 121 Chinese articles were included in this study. The annual publication of English and Chinese literature on MR studies in the field of cancer showed an overall upward trend, but there was limited collaboration among authors and institutions. The analysis of keywords in both English and Chinese literature revealed that breast cancer, colorectal cancer, lung cancer, prostate cancer, and gastric cancer were the key cancer types, with sex hormones and low back pain as the main associated factors. Research hotspots lasting for more than five years included genetic polymorphism, colorectal cancer, and genome-wide association studies. The recent research hotspots focused on insulin, renal cell carcinoma, and endometrial cancer.

Conclusion MR studies have been extensively conducted in the field of cancer and have become a research hotspot. However, collaboration among authors and institutions still need to be strengthened. The inherent limitations of the research methodology itself can lead to issues such as insufficiency of MR study evidence and conflicting results among different studies. Future MR studies should integrate other disciplines and epidemiological research methods to provide more comprehensive causal evidence.