OncoRisk Panel
Comprehensive and Specialized Hereditary Cancer Panel
Overview
Analysis of Inherited Oncogenes
Celemics’ OncoRisk panel is specifically designed to analyze hereditary cancer associated genes. The OncoRisk panel is a hereditary cancer panel that targets 31 well-known oncogenes, leading to a reduction of total sequencing cost compared to whole genome sequencing or whole exome sequencing. Additionally, if the gene of interest does not exist on the panel, it can be added separately through our gene add-on service. This flexible design provides cost-effective sequencing results to every customer.
Features & Benefits
Comprehensive Analysis of Oncogenes
The panel consists of 31 oncogenes associated with inherited cancer precisely selected from Contract Research Organizations and numerous research studies. Owing to Celemics’ proprietary probe design and manufacture technology, hereditary cancer panel demonstrates industry-leading performance with superior sensitivity and specificity compared to other competitor products in the market.
Robust Bioinformatics System for Large Deletion Analysis
At Celemics, we provide results for large deletion analysis supported by Celemics proprietary bioinformatics analysis system. We also complement this bioinformatics solution with user-friendly customizable solutions, like CNV or any other novel variant analyses.
PN170 CDKN2A CNV plot
- Example of CNV analysis results (CDKN2A) for specific target regions
- Higher sequencing depths in the target regions, enabling accurate CNV analysis
NGS for Homologous Recombination Deficiency (HRD) Testing
Celemics’ hereditary cancer panel provides information for HRD grade computation to aid precision medicine for tumor treatment with 99.9% and 99.5% specificity for SNV and Indel, respectively. It can also detect all types of mutations with over 95% of sensitivity at 5% VAF.
Example of variants and CNV analysis results
- This example of variant analysis results include AA change, mutation type, total sequencing depth, allele frequency, etc.
| Gene | Mutation Type | Amino Acid Change | Total Depth | REF Depth | ALT Depth | Variant Allele Frequency |
|---|---|---|---|---|---|---|
| APC | SYN | p.S1738S | 1008 | 590 | 415 | 41.17% |
| ATM | Non-SYN | p.D1853N | 417 | 200 | 217 | 52.04% |
| BARD1 | Non-SYN | p.R658C | 829 | 435 | 394 | 47.53% |
| BMPR1A | Non-SYN | p.P2T | 621 | 309 | 311 | 50.08% |
| BRCA1 | SYN | p.S1389S | 802 | 460 | 342 | 42.64% |
| BRCA2 | SYN | p.V2171V | 1026 | 0 | 1026 | 100% |
| BRIP1 | SYN | p.Y1137Y | 844 | 3 | 840 | 99.53% |
| PMS2 | NON-SYN | K541E | 686 | 0 | 646 | 100% |
| PRSS1 | SYN | p.N246N | 921 | 0 | 921 | 100% |
| RAD51D | NON-SYN | p.R53Q | 971 | 0 | 971 | 100% |
Specification
| Gene count* | 31 genes |
|---|---|
| Covered region | Whole CDS |
| Target size | 96 Kb |
| Mutation type | SNV, Indel, CNV, Rearrangement |
| Sample type | Blood (> 50 ng of fragmented DNA), FFPE |
| Platform | All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore |
| Sensitivity | > 95% for all variant types at 5% VAF |
| Specificity | 99.90%(SNV), 99.50%(Indel) |
| Bioinformatics Support | ① Primary Analysis: FASTQ to annotated VCF ② Secondary Analysis: CNV, Large InDel ③ Tertiary Analysis: Clinical interpretation |
Specification - Gene List
| Gene List |
APC | ATM | BARD1 | BLM | BMPR1A | BRCA1 | BRCA2 | BRIP1 |
|---|---|---|---|---|---|---|---|---|
| CDH1 | CDK4 | CDKN2A | CHEK2 | EPCAM | MLH1 | MRE11A | MSH2 | |
| MSH6 | MUTYH | NBN | PALB2 | PMS2 | PRSS1 | PTEN | RAD50 | |
| RAD51C | RAD51D | SLX4 | SMAD4 | STK11 | TP53 | VHL |
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Resources
Technical Resources
Safety Data Sheets
If you require the latest MSDS file, please contact us via ‘Contact Us‘.
MSDS_OncoRisk Panel_Illumina
MSDS_OncoRisk Panel_Thermo Fisher
MSDS_OncoRisk Panel_MGI
References
Frontiers in Oncology
The clinical relevance of surgical specimens for RNA sequencing in lung cancer: a cohort study
Eom, J. S., Kim, S. H., Kim, K., Kim, A., Ahn, H. Y., Mok, J., … & Kim, M. H. (2024). The clinical relevance of surgical specimens for RNA sequencing in lung cancer: A cohort study. Frontiers in Oncology, 14, 1462519.
10.3389/fonc.2024.1462519
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