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In breast cancer, blood tests built from each patient's tumour mutations found the smallest amounts of tumour DNA, down to a few parts per million when thousands of mutations were tracked.
Serial plasma from patients with breast cancer was analysed with tumour-informed and tumour-naive assays for structural variants, single-nucleotide variants and copy-number changes, by multiplex PCR, hybrid capture and whole-genome sequencing at different depths. ctDNA dynamics and allele fractions were highly concordant between assays, and tumour-informed assays were the most sensitive at low concentrations. Hybrid capture targeting 1,347 to 7,491 tumour-identified mutations detected ctDNA down to an allele fraction of 0.00024 per cent (2.4 parts per million); multiplex PCR targeting 21 to 47 structural variants detected it down to 0.00047 per cent (4.7 parts per million).
Parts-per-million detection in breast cancer needs thousands of tracked mutations or a smaller set of structural variants; detection still pools them all, so it does not say which clone is present.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
Shares Tumour-informed versus tumour-naive ctDNA assays, Minimal / molecular residual disease (MRD), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing.
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