Pan-cancer screening by circulating tumor DNA (ctDNA) - recent breakthroughs and chronic pitfalls

JOURNAL OF LABORATORY MEDICINE(2022)

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摘要
Early detection is crucial for optimal treatment and prognosis of cancer. New approaches for pan-cancer screening comprise the comprehensive characterization of circulating tumor DNA (ctDNA) in plasma by next generation sequencing and molecular profiling of mutations and methylation patterns, as well as fragmentation analysis. These promise the accurate detection and localization of multiple cancers in early disease stages. However, studies with real screening populations have to show their clinical utility and practicability.
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关键词
cancer,ctDNA,early detection,fragment analysis,liquid profiling,methylation,mutations,next generation sequencing,screening
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