Chronix Biomedical reports a positive interim analysis of its ongoing validation study of its Copy Number Instability (CNI)-based therapeutic monitoring test in pancreatic cancer. The study compares the accuracy of Chronix’s CNI-based test at predicting a clinical response, as early as after the first cycle of chemotherapy compared to CA19-9, a commonly used biomarker.
Genomic analysis of tissue malignancies is well recapitulated by tumor cell free DNA (cfDNA) using the power of Next Generation Sequencing (NGS).
Weiss, Glen J., et al. Changes in tumor cell-free DNA copy number instability (CNI) predict therapeutic response in metastatic cancers. Cancer Research 76.14 Supplement (2016): 3138-3138.
Gains and losses of chromosomal regions – as a hallmark of cancer – have been detected in plasma as copy number aberrations (CNAs), and for several cancers a relation to tumor size has been reported.
Schütz, E., et al. Chromosomal Instability in Cell-Free DNA Is a Serum Biomarker for Prostate Cancer. Clinical Chemistry 2015; 61: 239-248.
Tumor-specific cell free DNA (cfDNA) present in serum and plasma provides a real-time, easily accessible surrogate. We demonstrated variations in the number of cfDNA sequences circulating in the serum of patients with prostate cancer compared with healthy controls.
Schütz E. et al. Graft-Derived Cell-Free DNA – a Noninvasive Early Rejection and Graft Damage Marker in Liver Transplantation PlosMed (2017;) doi:10.1371/journal.pmed.1002286
Graft-derived cell-free DNA (GcfDNA), which is released into the blood stream by necrotic and apoptotic cells, is a promising noninvasive organ integrity biomarker.
Beck, J. et al. Comprehensive analyses of rectal cancer genomes to reveal copy number variations as potential predictor of induction therapy efficacy. J ClinOncol 32, 2014 (suppl; abstr e14549).
Genome profiling of individual tumors is provided by high-throughput sequencing and is about to enter routine clinical practice with impact on treatment decisions and tumor classification (NIH  The Cancer Genome Atlas).
Urnovitz, HB et al. Detection of novel HPV mutations and chromosomal number imbalance (CNI) in laryngeal cancer using next-generation sequencing (NGS). J ClinOncol 32:5s, 2014 (suppl; abstr 6072).
The detection of novel HPV mutations and CNI analysis in a single NGS run on HPV-related diseases provides important information into viral-host dynamics while generating biomarkers that can be correlated with treatment outcomes.
Beck, J. et al. Cell-free DNA copy number variations as a marker for breast cancer in a large study cohort. J ClinOncol 31, 2013 (suppl; abstr 11013).
Using comparative massive parallel sequencing of cfDNA from cancer patients vs. controls, we were able to show that a 16-region model based on CNV, is useful to distinguish patients with breast cancer from matched controls.
Beck, J. et al. Structural variation in mammary carcinomas and their detection in cell-free plasma DNA. PLOS One 2013 (10.1371/journal.pone.0075485).
Mammary tumors are the most frequent cancers in female dogs exhibiting a variety of histopathological differences. There is lack of knowledge about the genomes of these common dog tumors. Five tumors of three different histological subtypes were evaluated.
Beck J. et alDigital droplet PCR for rapid quantification of donor DNA in the circulation of transplant recipients as a potential universal biomarker of graft injury. Clin Chem. 2013 ;59:1732-41
Cell-free DNA (cfDNA) from grafts in the circulation of transplant recipients is a potential biomarker of rejection. Its usefulness was investigated after heart transplantation during the maintenance phase by use of microarrays and massive parallel sequencing of donor and recipient DNA.