Dr. Nicola Normanno, Director, Translational Research, National Cancer Institute, Italy - Pascale Foundation
Dr. Ines Raineri, Institute for Pathology Medica AG, Switzerland
Dr. Philip Martin Jermann, Director Molecular Assay Development, University Hospital Basel
Dr. Massimo Barberis, Director of Histopathology and Molecular Diagnostics Unit, European Institute of Oncology, Milan, Italy
Dr. Andreas Jung, Professor of Molecular Pathology,
University of Munich
Minimize the resources and expertise required to generate CGP results by combining a highly automated workflow with a complete bioinformatics pipeline all from a single supplier.
All relevant single and multiple gene biomarkers including homologous recombination repair (HRR) genes and genomic instability based on loss of heterozygosity (LOH) as well as other mutational signatures.
Only 20 ng of DNA or RNA input will allow up to 98% of samples to be analyzed.
Empower lab efficiency by reducing hands on time and possible errors due to handling. The automated workflow with Ion Torrent Chef and Ion Torrent GeneStudio S5 with dedicated bioinformatics pipelines including Oncomine Reporter means ~1 hour of hands-on time.
Single-gene biomarkers—Broad range of single-gene variants, such as single-nucleotide variants (SNVs), insertions and deletions (indels), novel and known fusions, splice variants, and copy number variants (CNVs), including both copy number gains and losses
Multiple-gene biomarkers—Tumor mutational burden (TMB), predisposition to genetic hypermutability by comparing microsatellite instability (MSI) regions, and analyze mutational signatures for insights into etiological factors in tumorigenesis
Homologous recombination repair deficiency
(HRD)— loss of heterozygosity (LOH) to assess genomic instability and mutations in 42 key genes in the homologous recombination repair (HRR) pathway
Read Article: A Comprehensive Answer for Cancer: Is Comprehensive Genomic Profiling Always the Right Approach?
A multi-center study reported that more than half of all samples would not be suitable for hybrid capture based NGS, while 93.8% of samples below 25mm2 were successfully tested by amplicon based NGS methods.
Homologous recombination repair deficiency (HRD) is becoming an important new biomarker in precision oncology clinical research.Under normal conditions, genes in the homologous recombination repair (HRR) pathway repair DNA damage. Errors in the HRR pathway, such as loss-of-function or deleterious mutations in the associated genes, can lead to higher levels of genomic instability - the HRD phenotype. HRD has been shown to be relevant in certain tumors, such as ovarian and prostate cancers, and is being extensively studied in clinical research.
HRD can be assessed using two main strategies:
The significant role of HRR genes in maintaining genome stability and tumor suppression has been studied extensively,
especially in the BRCA1 and BRCA2 genes. In recent years, it has been demonstrated that alterations in other homologous recombination repair pathway genes may lead to genomic instability and cancer cell development. The status of HRR genes are now considered an important biomarkers for precision oncology research.
The Oncomine Comprehensive Assay Plus measures genomic instability with both gene-level and sample-level LOH with high accuracy. Figure C demonstrates the LOH assessment at both sample level and gene level compared with Applied Biosystems™ OncoScan™ CNV Assay as an orthogonal test using the same FFPE samples.
If you are interested in learning more about our Oncomine NGS solutions for comprehensive genomic profiling of solid tumors, a local representation can contact you to set up a demo, or discuss pricing options.
