Explore a selection of the 200+ peer-reviewed articles we've published since our founding.
The Analytical Validation of a Hybrid Capture-based Next-generation Sequencing Clinical Assay for Genomic Profiling of Cell-free Circulating Tumor DNA
Journal of Molecular Diagnostics (June 2018)
An assay’s validation offers insight into the quality of its laboratory performance and its ability to confidently detect genomic variants at various frequency levels. In this validation study, 2,666 reference alterations were utilized to evaluate the FoundationACT liquid biopsy assay against multiple orthogonal methods, including matched tissue with FoundationOne®, achieving high sensitivity in detecting genomic alterations even at low mutant allele frequencies (MAF>0.25%) often observed in clinical samples.
Emergence of Preexisting MET Y1230C Mutation as a Resistance Mechanism to Crizotinib in NSCLC with MET Exon 14 Skipping
Journal of Thoracic Oncology (January 2017)
Emergence of the preexisting MET Y1230C likely confers resistance to crizotinib in this case of METex14-positive NSCLC. Existence of pretreatment MET Y1230C may eventually modulate the response of METex14-positive NSCLC to type I MET tyrosine kinase inhibitors. Noninvasive plasma-based ctDNA assays can provide a convenient method to detect resistance mutations in patients with previously known driver mutations.
Next-Generation Sequencing Reveals Potentially Actionable Alterations in the Majority of Patients With Lymphoid Malignancies
JCO Precision Oncology (April 2017)
NGS identifies alterations that may be pharmacologically tractable in most patients with lymphoid malignancies, albeit with drugs that have usually been developed in the context of solid tumors.
Hybrid capture-based genomic profiling of circulating tumor DNA from patients with estrogen receptor-positive metastatic breast cancer
Annals of Oncology (August 2017)Genomic changes that occur in breast cancer during the course of disease have been informed by sequencing of primary and metastatic tumor tissue. For patients with relapsed and metastatic disease, evolution of the breast cancer genome highlights the importance of using a recent sample for genomic profiling to guide clinical decision-making. Obtaining a metastatic tissue biopsy can be challenging, and analysis of circulating tumor DNA (ctDNA) from blood may provide a minimally invasive alternative.
Annals of Oncology (2016)
In this review, the role of somatic BRCA mutations and BRCA methylation in ovarian cancer is discussed alongside the challenges that need to be addressed if the full potential of these markers of HRD is to be utilised in clinical practice.
Journal of the National Comprehensive Cancer Network (February 2016)
This exceptional response to pazopanib treatment suggests that a subset of patients with angiosarcoma with genomic alterations in vascular signaling genes may respond well to pazopanib.
The Lancet Oncology (2016)
The ARIEL2 study assessed the ability of tumour genomic LOH, quantified with a next-generation sequencing assay, to predict response to rucaparib, an oral PARP inhibitor.
Lung Cancer (September 2017)
This study demonstrates the importance of both tissue and blood based hybrid-capture based genomic profiling at disease progression to identifying novel resistance mechanisms in the clinic.
Clinical Cancer Research (2017)
A prospective study of molecular profiling of tissue and blood in metastatic triple-negative breast cancer.
Identification of a novel fusion TBL1XR1–PDGFRB in a patient with acute myeloid leukemia harboring the DEK–NUP214 fusion and clinical response to dasatinib
Leukemia & Lymphoma (May 2017)
In this case study, we describe a novel PDGFRB rearrangement, TBL1XR1–PDGFRB, in a patient with AML with recurrent genetic abnormality.