CellMax DNA Genetic Cancer Risk

Circulating tumor DNA (ctDNA) is tumor DNA circulating freely in the blood of a cancer patient. ctDNA originates from tumor cells and can be present in a wide range of cancers. ctDNA is a specific cancer biomarker that can be used for detecting, measuring, and tracking somatic mutations that may drive cancer. Genomic profiling of ctDNA, referred to as liquid biopsy, can help match individual patients to personalized target therapy, without having to repeat a biopsy of the tumor itself.

CelleMax LBx is a liquid biopsy test with a custom gene panel that provides coverage of NCCN guideline recommended sites for solid tumors. The test is capable of detecting somatic mutations including single nucleotide variants (SNVs), small insertions and deletions (InDels), copy number variations (CNV), gene fusions, and microsatellite instability (MSI).

CelleMax LBx Liquid Biopsy

Gene List

Mutations
(SNVs)
(73 Genes)
InDels
(25 Genes)
Amplifications
(CNVs)
(14 Genes)
Rearrangements
(4 Genes)
MSI
ABL1 EFBB2 KIT RB1 APC PTCH1 AR ALK BAT-25
AKT1 ERBB4 KRAS ROS1 ARID1A PTEN BRAF FGFR3 BAT-26
ALK EZH2 LIFR RUNX1 ATM RB1 BRCA1 NTRK1 NR-21
APC FBXW7 MAP2K1 SETD2 BRCA1 RUNX1 BRCA2 ROS1 NR-24
AR EGFR1 MAP3K1 SMAD2 BRCA2 SETD2 EGFR   MONO-27
ARID1A FGFR2 MET SMAD4 CDH1   ERBB2    
ATM FGFR3 MLH1 SMARCA4 CDKN2A   FGFR1    
BRAF FLT3 MPL SMARCB1 CTCF   FGFR2    
BRCA1 GATA3 MROT SMO EGFR   FGFR3    
BRCA2 GNA11 NAV3 STC EP300   KIT    
CDH1 GNAQ NFE2L2 STK11 ERBB2   KRAS    
CDKN2A GNAS NOTCH1 TP53 GATA3   MET    
CSF1R HND1A NPM1 VHL HNF1A   PDGFRA    
CTCF HRAS NRAS   KIT   PIK3CA    
CTNNB1 IDH1 PDGFRA   MET        
DNMT3A IDH2 PIK3CA   MLH1        
EGFR JAK2 PIK3R1   MTOR        
EP300 JAK3 PTCH1   NOTCH1        
EPHA3 KDR PTEN   NPM1        
EPHA5 KEP1 PTPN11   PDGFRA        

Superior accuracy

Table 1 Analytical performance of OncoLBx

Variant types Detection range Sensitivity (%) Specificity (%) PPV (%) Accuracy (%)
SNVs 0.1-0.2%%VAF 86.263 99.999 95.763 99.999
  >0.2% VAF 100 100 100 100
Indels 0.1-0.2%%VAF 83.333 99.999 90.909 99.998
  >0.2% VAF 100 100 100 100
Fusions >0.5% VAF 100 100 100 100
CNVs >4.5 copies 100 100 100 100
MSI 2-100% VAF 100 100 100 100

The table shows statistical performance parameters such as sensitivity, specificity, positive predictive value (PPV) and accuracy for specific detection ranges. A summary of the results used to calculate analytical performance is provided in the electronic supplementary material, supplementary Table S1.

CNV copy number variant, ideals insertions and deletions, MSI microsatellite instability, VAF variant allele fraction, SNV single-nucleotide variant.

Molecular Diagnosis & Therapy 2019 June.