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▸ Concept

Liquid biopsy

Detecting cancer or other disease by sequencing DNA fragments shed into the bloodstream — a blood draw instead of a surgical tissue sample.

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In a nutshell

Tumors and other diseased cells shed small fragments of DNA into the blood. A liquid biopsy captures and sequences that circulating cell-free DNA (cfDNA) or circulating tumor DNA (ctDNA) from a standard blood draw. The diagnostic power comes from reading genetic signals — mutations, methylation patterns, copy-number changes — without cutting into the body. The hard part is sensitivity: tumor-derived fragments are a tiny fraction of all cfDNA, so the assay must detect a faint signal in a noisy background. That detection limit determines how early a cancer can be caught.

Where it came from

Year1977
SourceCell-free DNA first described in plasma by Leon et al., Journal of Clinical Investigation
Why it matteredThe term 'liquid biopsy' came into wide clinical use circa 2010s

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