1.Introduction With an estimate of 19,976,499 newly diagnosed cases and 9,743,832 deaths occurred in 2022 worldwide,cancer continues to impose a significant health and economic burden worldwide.1 The development of ca...1.Introduction With an estimate of 19,976,499 newly diagnosed cases and 9,743,832 deaths occurred in 2022 worldwide,cancer continues to impose a significant health and economic burden worldwide.1 The development of cancer is a complex interplay between genetic and environmental factors.2 In addition to genetic modifications,there is a growing body of evidence suggesting that epigenetic changes,which influence gene expression without modifying the DNA sequence,are playing an increasingly significant role in the development of cancer.DNA methylation,a key epigenetic mechanism,has been notably implicated in the early stages of cancer development,positioning it as a potential biomarker for cancer risk assessment.3 Studies have identified a diverse array of DNA methylation biomarkers for the early detection and diagnosis of cancer,utilizing DNA extracted from tissues,blood,stool,urine,and bowel lavage fluid.4 Research of DNA methylation has focused on two primary sources:peripheral blood mononuclear cell or white blood cell(WBC)DNA methylation,5 linked to cancer susceptibility and tumor-derived cell-free DNA(cfDNA)methylation,6 which has gained significant attention in recent years as a promising biomarker for cancer screening and diagnosis.展开更多
基金supported by the Beijing Nova Program of Science and Technology(grant number:20230484397)the National Natural Science Foundation of China(grant number:82273726).
文摘1.Introduction With an estimate of 19,976,499 newly diagnosed cases and 9,743,832 deaths occurred in 2022 worldwide,cancer continues to impose a significant health and economic burden worldwide.1 The development of cancer is a complex interplay between genetic and environmental factors.2 In addition to genetic modifications,there is a growing body of evidence suggesting that epigenetic changes,which influence gene expression without modifying the DNA sequence,are playing an increasingly significant role in the development of cancer.DNA methylation,a key epigenetic mechanism,has been notably implicated in the early stages of cancer development,positioning it as a potential biomarker for cancer risk assessment.3 Studies have identified a diverse array of DNA methylation biomarkers for the early detection and diagnosis of cancer,utilizing DNA extracted from tissues,blood,stool,urine,and bowel lavage fluid.4 Research of DNA methylation has focused on two primary sources:peripheral blood mononuclear cell or white blood cell(WBC)DNA methylation,5 linked to cancer susceptibility and tumor-derived cell-free DNA(cfDNA)methylation,6 which has gained significant attention in recent years as a promising biomarker for cancer screening and diagnosis.