Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients
| Autor: | Jacqueline A Shaw, Justin Stebbing, Robert K. Hastings, Karen Howarth, David S. Guttery, Emma Green, Daniel Fernadez-Garcia, Kelly L. T. Gleason, Luke Martinson, Allison Hills, Nitzan Rosenfeld, Charlotte Ion, Laura M. Kenny, Farah Rehman, R. Charles Coombes, Amelia J Rushton, Karen Page, Andrijac Sanela, Susan Cleator, Georgios Nteliopoulos, Warren Emmett |
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| Přispěvatelé: | National Institute for Health Research, Imperial College Healthcare NHS Trust- BRC Funding |
| Rok vydání: | 2020 |
| Předmět: |
Oncology
ESR1 MUTATIONS Cancer Research medicine.medical_specialty medicine.medical_treatment Concordance Estrogen receptor Breast Neoplasms DNA sequencing Targeted therapy Circulating Tumor DNA Breast cancer Internal medicine Circulating tumour DNA (ctDNA) medicine Biomarkers Tumor Humans 1112 Oncology and Carcinogenesis Oncology & Carcinogenesis LEADING TECHNOLOGIES Science & Technology business.industry Endocrine therapy resistance Cancer High-Throughput Nucleotide Sequencing Reproducibility of Results 1103 Clinical Sciences medicine.disease Metastatic breast cancer Clinical Trial CFDNA CELL-FREE DNA Next-generation sequencing CTDNA Female business Life Sciences & Biomedicine Estrogen receptor alpha |
| Zdroj: | Breast Cancer Research and Treatment |
| ISSN: | 1573-7217 |
| Popis: | 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 (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 affectingESR1, PIK3CAandTP53. 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 ESR1andPIK3CA.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. |
| Databáze: | OpenAIRE |
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