CancerScreen Focus Panel
Accurate Detection of Genetic Markers Associated with Companion Diagnostics
Overview
CancerScreen Focus Panel
CancerScreen Focus Panel is an NGS assay designed to detect all types of variants from genes specifically associated with somatic cancer and also clinically significant sites, such as TERT promoter. By targeting the selected genes with high sensitivity and specificity enables cost-effective and efficient sequencing.
Also, if the gene of interest does not exist in the panel, it can be added separately through our gene add-on service
Celemics’ CancerScreen Focus Panel can also be accompanied by full Bioinformatics support; the report consists of the primary, secondary, and tertiary results for the in-depth understanding and interpretation of sequencing data.
Optimized Comprehensive Panel for Solid Cancer Analysis
The panel is designed to assess all major mutations for FDA approved therapies and all coding exons in each gene. Using the CancerScreen Focus Panel, you can detect all mutation types, including SNV, Indel, Large Inde, CNV, rearrangements relevant to solid cancer in a single assay.
Detection Accuracy Results of CancerScreen Focus DNA Panel using Reference DNA
- Validation experiment is performed by using the CancerScreen Focus DNA Panel with the reference sample of OncoSpan FFPE (Horizon Discovery). The validation results indicate that CancerScreen Focus DNA Panel is able to obtain values closely resembling the allele frequencies of known genetic mutations, and successfully detected all mutations of interest. (Sensitivity > 99%, Specificity > 99%).
| Chromosome | Gene | Ref Allele | Alt Allele | Mutation | Reference DNA | CancerScreen Focus DNA |
|---|---|---|---|---|---|---|
| 1 | NRAS | G | T | Q61K | 12.5% | 10.7% |
| 3 | PIK3CA | G | A | E545K | 9.0% | 9.5% |
| 3 | PIK3CA | A | G | H1047R | 17.5% | 16.9% |
| 4 | KIT | A | T | D816V | 10.0% | 8.2% |
| 4 | KIT | G | C | L862 | 7.5% | 6.4% |
| 7 | EGFR | G | A | G719S | 24.5% | 22.2% |
| 7 | EGFR | AGG..AGC | A | △E746-A750 | 2.0% | 0.5% |
| 7 | EGFR | G | A | Q787Q | 15.0% | 11.6% |
| 7 | EGFR | C | T | T790M | 1.0% | 0.7% |
| 7 | EGFR | T | G | L858R | 3.0% | 2.4% |
| 7 | MET | GT | G | - | 7.0% | 6.2% |
| 7 | MET | G | A | A1339A | 7.0% | 6.9% |
| 7 | BRAf | A | T | V600E | 10.5% | 9.1% |
| 12 | KRAS | C | T | G13D | 15.0% | 13.5% |
| 12 | KRAS | C | T | G12D | 6.0% | 6.0% |
| 13 | FLT3 | GGA | G | - | 10.0% | 7.7% |
| 13 | BRCA2 | CA | C | K1691Nfs*15 | 32.5% | 29.3% |
| 17 | TP53 | G | C | P72R | 92.5% | 92.4% |
Superior sensitivity and specificity for both DNA/RNA, even with FFPE or other low-quality clinical samples
CancerScreen Focus Panel is suitable for detecting low-frequency and rare variants with high sequencing depths. With Celemics’ proprietary probe design technology, it provides superior capture performance even in so-called difficult to capture regions, such as GC-rich and homologous regions, regardless of the sample types, ranging from blood and tissue to poor-quality FFPE or ctDNA with the highest sensitivity and specificity.
Result of Gene Fusion Detection (TACC3 and FGFR3) and List of Applicable Fusion Analysis.
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Performance data of CancerScreen Focus RNA Panel using Seraseq® FFPE Tumor Fusion RNA v4 Reference Material (SeraCare).
(A) The validation experiment result indicate that the panel can successfully detect gene fusion between TACC3 and FGFR3.(B) Other 12 companion diagnostics associated fusion genes known to be present in the reference sample from Seraseq® FFPE Tumor Fusion RNA v4 Reference Material (SeraCare) also successfully detected (Data not shown).
Full Support from FASTQ to Clinical-grade Bioinformatics
Experience our full bioinformatic support and customizable services. Includes pathogenicity, drug-association information, and functional information of target genes.
Bioinformatics and Clinical Report Example
Rapid and Easy-to-use Workflow
Expedite sequencing with no compromise on data quality with rapid one-day protocol. Celemics provides simplified version of NGS workflow with no need for heavy instruments. The experimental procedure are also compatible with various automotive liquid handlers for your convenience.
Newly Developed Same-day Workflow
Newly Developed Same-Day Workflow
Conventional
workflow
» 20 hours
Library Prep
Target Capture
Same-day
workflow
» 5-8 hours
Library Prep
Target Capture
Specification
| Product Name | CancerScreen Focus - DNA | CancerScreen Focus - RNA | CancerScreen FOcus - HRD |
|---|---|---|---|
| Gene count | 22 | 9 | 15 |
| Target size | 73.4 kb | 32.1 kb | 69.4 kb |
| Mutation type | SNV, Indel, Rearrangement | ||
| Covered region | Whole CDS | ||
| Sample Type | Blood, FFPE, Fresh-Frozen | ||
| Platform | All sequencers from Illumina, Thermo Fisher, and MGI | ||
| Bioinformatics Support | ① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel, TMB & MSI ③ Tertiary Analysis: Clinical interpretation Visualization Curation (Heatmap, CNV visualization, Statistical analysis, etc.) |
||
Specification - Gene List
- 22 genes | Gene count
- 73.4 kb | Target Size
| DNA Panel | ALK | BRAF | BRCA1 | BRCA2 | EGFR | ERBB2 |
|---|---|---|---|---|---|---|
| EZH2 | FGFR3 | FLT3 | IDH2 | IDH2 | KIT | |
| KRAS | MET | MYC | MYCN | NF1 | NRAS | |
| PDGFRA | PDGFRB | PIK3CA | TP53 |
- 9 genes | Gene count
- 32.1 kb | Target Size
| RNA Panel | ABL1 | ALK | FGFR2 | FGFR3 | NTRK1 | NTRK2 |
|---|---|---|---|---|---|---|
| NTRK3 | RET | ROS1 |
- 15 genes | Gene count
- 69.4 kb | Target Size
| HRD Panel | ARID1A | ATM | ATRX | BAP1 | BLM | BRCA1 |
|---|---|---|---|---|---|---|
| BRCA2 | BRIP1 | CHEK2 | FANCC | MRE11 | NBN | |
| PALB2 | RAD50 | WRN |
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Resources
Technical Resources
Safety Data Sheets
References
Cancer Research and Treatment
Varlitinib and Paclitaxel for EGFR/HER2 Co-Expressing Advanced Gastric Cancer: A Multicenter Phase Ib/II Study (K-MASTER-13)
Koo DH, Jung M, Kim YH, Jeung HC, Zang DY, Bae WK, Kim H, Kim HS, Lee CK, Kwon WS, Chung HC. Varlitinib and Paclitaxel for EGFR/HER2 Co-Expressing Advanced Gastric Cancer: a Multicenter Phase Ib/II Study (K-MASTER-13). Cancer Research and Treatment. 2024 Apr 29.
10.4143/crt.2023.1324
Cancers
Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel
Hwang J, Bang S, Choi MH, Hong SH, Kim SW, Lee HE, Yang JH, Park US, Choi YJ. Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel. Cancers. 2024 Jan;16(11):2006.
10.3390/cancers16112006
Frontiers in Neurology
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia
Ammous-Boukhris N, Abdelmaksoud-Dammak R, Ben Ayed-Guerfali D, Guidara S, Jallouli O, Kamoun H, Charfi Triki C, Mokdad-Gargouri R. Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia. Frontiers in Neurology. 2024 May 31;15:1344018.
10.3389/fneur.2024.1344018
Scientific Reports
Sex-specific survival gene mutations are discovered as clinical predictors of clear cell renal cell carcinoma
Hwang J, Lee HE, Han JS, Choi MH, Hong SH, Kim SW, Yang JH, Park U, Jung ES, Choi YJ. Sex-specific survival gene mutations are discovered as clinical predictors of clear cell renal cell carcinoma. Scientific Reports. 2024 Jul 9;14(1):15800.
10.1038/s41598-024-66525-9