As early as 2000 years ago,ancient Chinese medical records had described the relationship between diseases and appearance in detail.Moreover,modern medicine has also constantly studied the relationship between facial features and health in evolutionary terms.It is well known that many hereditary diseases involve certain abnormal facial features and gene mutations.The tumor is also considered as genetic disorder to some extent,so what is the relationship between cancer genetics and congenital development of facial features?Here,we reviewed some clues to the appearance-gene-tumor relation,which might become the targets in the early prevention or gene therapy of cancer in the future.This summary provided us a new strategy for the cancer genetic screening and a new research direction for genetic diagnosis of the potential disease.