Comparison of sequencing assays for sensitive detection of circulating tumour DNA in stage IA-IV breast cancer

This study compared different assays for the detection of circulating tumour DNA (ctDNA) in serial plasma from stage IA-IV breast cancer patients, targeting structural variants (SVs), single nucleotide variants (SNVs) and/or somatic copy-number aberrations (SCNAs). SV-multiplex PCR, SNV-/SV-hybrid capture, and different depths of whole-genome sequencing (WGS) were used to evaluate ctDNA levels, demonstrating concordant results. SNV-hybrid capture targeting 1,347-7,491 mutations was the most sensitive assay, detecting 67% (36/54) of samples down to an allele fraction (AF) of 0.00024%. SV-multiplex PCR, targeting 21-47 mutations, detected 63% (34/54) of samples down to 0.00047% AF and has potential as a clinical assay.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001008589	This study compared different assays for the detection of circulating tumour DNA (ctDNA) in serial plasma from stage IA-IV breast cancer patients, targeting structural variants (SVs), single nucleotide variants (SNVs) and/or somatic copy-number aberrations (SCNAs). SV-multiplex PCR, SNV-/SV-hybrid capture, and different depths of whole-genome sequencing (WGS) were used to evaluate ctDNA levels, demonstrating concordant results. SNV-hybrid capture targeting 1,347-7,491 mutations was the most sensitive assay, detecting 67% (36/54) of samples down to an allele fraction (AF) of 0.00024%. SV-multiplex PCR, targeting 21-47 mutations, detected 63% (34/54) of samples down to 0.00047% AF and has potential as a clinical assay.	HiSeq X Ten Illumina HiSeq 4000 Illumina MiSeq Illumina NovaSeq 6000	1284

Publications	Citations
Comparison of tumor-informed and tumor-naïve sequencing assays for ctDNA detection in breast cancer. Santonja A, Cooper WN, Eldridge MD, Edwards PAW, Morris JA, Edwards AR, Zhao H, Heider K, Couturier DL, Vijayaraghavan A, Mennea P, Ditter EJ, Smith CG, Boursnell C, Manzano García R, Rueda OM, Beddowes E, Biggs H, Sammut SJ, Rosenfeld N, Caldas C, Abraham JE, Gale D. EMBO Mol Med 15: 2023 e16505	6

Publications

Citations

Comparison of tumor-informed and tumor-naïve sequencing assays for ctDNA detection in breast cancer.
Santonja A, Cooper WN, Eldridge MD, Edwards PAW, Morris JA, Edwards AR, Zhao H, Heider K, Couturier DL, Vijayaraghavan A, Mennea P, Ditter EJ, Smith CG, Boursnell C, Manzano García R, Rueda OM, Beddowes E, Biggs H, Sammut SJ, Rosenfeld N, Caldas C, Abraham JE, Gale D. EMBO Mol Med 15: 2023 e16505