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% |
| PRSS1 | NON-SYN | p.R53Q | 971 | 0 | 971 | 100% |
Specification
| Gene count* | 31 genes |
|---|---|
| Covered region | Whole CDS |
| Target size | 96 Mb |
| 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
References
Epigenomics
Identification of tissue of origin in cancer of unknown primary using a targeted bisulfite sequencing panel
Bae JM, Ahn JY, Lee H, Jang H, Han H, Jeong J, et al. Identification of tissue of origin in cancer of unknown primary using a targeted bisulfite sequencing panel. Epigenomics. 2022 May;14(10):615–28.
10.2217/epi-2021-0477
Investig Clin Urol
Germline pathogenic variants in unselected Korean men with prostate cancer
So MK, Ahn HK, Huh J, Kim KH. Germline pathogenic variants in unselected Korean men with prostate cancer. Investig Clin Urol. 2022 May;63(3):294–300.
DOI 10.4111/icu.20220044
Scientific Reports
Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers
Lee J, Ham JY, Park HY, Jung JH, Kim WW, Kang B, et al. Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers. Sci Rep. 2022 Feb 3;12(1):1842.
DOI 10.1038/s41598-022-05931-3
BMC Medical Genomics
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report
Shin WY, Yoon SY, Park R, Kim JA, Song HH, Bang HI, et al. A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report. BMC Med Genomics. 2022 Mar 4;15(1):46.
DOI 10.1186/s12920-022-01191-2