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@article{Nteliopoulos:2021:10.1007/s10549-021-06220-9,
author = {Nteliopoulos, G and Page, K and Hills, A and Howarth, K and Emmett, W and Green, E and Martinson, LJ and Fernadez-Garcia, D and Hastings, R and Guttery, DS and Kenny, L and Stebbing, J and Cleator, S and Rehman, F and Gleason, KLT and Sanela, A and Ion, C and Rushton, AJ and Rosenfeld, N and Coombes, RC and Shaw, JA},
doi = {10.1007/s10549-021-06220-9},
journal = {Breast Cancer Research and Treatment},
pages = {465--176},
title = {Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients},
url = {http://dx.doi.org/10.1007/s10549-021-06220-9},
volume = {188},
year = {2021}
}

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TY  - JOUR
AB  - PurposeThere is growing interest in the application of circulating tumour DNA (ctDNA) as a sensitive tool for monitoring tumour evolution and guiding targeted therapy in patients with cancer. However, robust comparisons of different platform technologies are still required. Here we compared the InVisionSeq™ ctDNA Assay with the Oncomine™ Breast cfDNA Assay to assess their concordance and feasibility for the detection of mutations in plasma at low (< 0.5%) variant allele fraction (VAF).MethodsNinety-six plasma samples from 50 patients with estrogen receptor (ER)-positive metastatic breast cancer (mBC) were profiled using the InVision Assay. Results were compared to the Oncomine assay in 30 samples from 26 patients, where there was sufficient material and variants were covered by both assays. Longitudinal samples were analysed for 8 patients with endocrine resistance.ResultsWe detected alterations in 59/96 samples from 34/50 patients analysed with the InVision assay, most frequently affecting ESR1, PIK3CA and TP53. Complete or partial concordance was found in 28/30 samples analysed by both assays, and VAF values were highly correlated. Excellent concordance was found for most genes, and most discordant calls occurred at VAF < 1%. In longitudinal samples from progressing patients with endocrine resistance, we detected consistent alterations in sequential samples, most commonly in ESR1 and PIK3CA.ConclusionThis study shows that both ultra-deep next-generation sequencing (NGS) technologies can detect genomic alternations even at low VAFs in plasma samples of mBC patients. The strong agreement of the technologies indicates sufficient reproducibility for clinical use as prognosic and predictive biomarker.
AU  - Nteliopoulos,G
AU  - Page,K
AU  - Hills,A
AU  - Howarth,K
AU  - Emmett,W
AU  - Green,E
AU  - Martinson,LJ
AU  - Fernadez-Garcia,D
AU  - Hastings,R
AU  - Guttery,DS
AU  - Kenny,L
AU  - Stebbing,J
AU  - Cleator,S
AU  - Rehman,F
AU  - Gleason,KLT
AU  - Sanela,A
AU  - Ion,C
AU  - Rushton,AJ
AU  - Rosenfeld,N
AU  - Coombes,RC
AU  - Shaw,JA
DO  - 10.1007/s10549-021-06220-9
EP  - 176
PY  - 2021///
SN  - 0167-6806
SP  - 465
TI  - Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients
T2  - Breast Cancer Research and Treatment
UR  - http://dx.doi.org/10.1007/s10549-021-06220-9
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000658573600001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://link.springer.com/article/10.1007%2Fs10549-021-06220-9
UR  - http://hdl.handle.net/10044/1/90039
VL  - 188
ER  -

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