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OncoRisk Panel
Comprehensive and Specialized Hereditary Cancer Panel
Overview
OncoRisk 패널
셀레믹스의 Oncorisk 패널은 유전성 암과 연관 있는 유전자들로 이루어진 패널입니다. 유전성 암과 밀접한 관계가 있는 것으로 알려진 31개의 종양유전자로 구성되었으며 Whole Genome Sequencing, Whole Exome Sequencing에 비해 비용 효율적으로 종양유전자 시퀀싱이 가능합니다. Gene Add-on 서비스를 지원하므로, 분석을 원하는 유전자가 포함되어 있지 않은 경우 추가하여 이용할 수 있습니다.
Features & Benefits
종양암 유전자에 대한 정밀한 검사를 위한 패널
위탁 기관 및 많은 연구 논문을 통해 엄선된 31개의 종양유전자로 이루어진 패널입니다. 종양유전자 검사에서 요구하는 수준의 높은 민감도와 특이도를 갖출 수 있도록 디자인되어 변이 검출 성능이 매우 우수합니다.
Large Deletion 분석을 위한 BI 분석 지원
Large Deletion 분석 지원을 비롯해 셀레믹스 독자적인 분석 파이프라인을 통한 분석 솔루션을 제공할 수 있습니다. CNV 분석, 신규 변이 발굴 등 다양한 유전 변이에 대한 분석을 지원합니다.
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
Homologous Recombination Repair (HRR) 테스트 가능
셀레믹스의 유전성 암 패널은 HRR 정보 제공이 가능합니다. SNV와 InDel에 대해 각각 99.9%, 99.5% 수준의 특이도로 검출 가능하며, 이외에 5% 이상의 빈도를 보이는 모든 유전변이에 대해 95% 이상의 민감도로 검출 가능해 높은 정확도의 분석이 가능합니다.
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 |
Related Products
Somatic Cancer
높은 민감도를 바탕으로 고형암의 분자 유전적 특징을 확인하고자 할 때 유용한 패널
Library Preparation Kit
NGS Library Preparation 키트로 셀레믹스의 Target Enrichment 패널에 최적화된 키트
CAS
셀레믹스에서 제공하는 BI 분석 서비스로 다양한 수준의 분석 결과 제공 가능
CeleMag Clean-up Bead
최고 품질의 마그네틱 비드로 사용하기 편리하며 높은 재현성을 보여 NGS 실험에 최적화된 비드
NGS Library Preparation 키트로 셀레믹스의 Target Enrichment 패널에 최적화된 키트
셀레믹스에서 제공하는 BI 분석 서비스로 다양한 수준의 분석 결과 제공 가능
최고 품질의 마그네틱 비드로 사용하기 편리하며 높은 재현성을 보여 NGS 실험에 최적화된 비드
Resources
Technical Resources
Safety Data Sheets
최신 MSDS 파일이 필요하시면 ‘Contact Us‘를 통해 문의 주시기 바랍니다.
MSDS_OncoRisk Panel_Illumina
MSDS_OncoRisk Panel_Thermo Fisher
MSDS_OncoRisk Panel_MGI
References
Molecular Cancer
Distant origin of glioblastoma recurrence: neural stem cells in the subventricular zone serve as a source of tumor reconstruction after primary resection
Li, X., Kim, H. J., Yoo, J., Lee, Y., Nam, C. H., Park, J., … & Lee, J. H. (2025). Distant origin of glioblastoma recurrence: neural stem cells in the subventricular zone serve as a source of tumor reconstruction after primary resection. Molecular Cancer, 24(1), 64.
10.1186/s12943-025-02273-2
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
Summary | celemics publications
#Oncology
#ctDNA Sample
# AlphaLiquid® 100 Panel
Purpose
Varlitinib is a pan-human epidermal growth factor receptor (HER) inhibitor targeting epidermal growth factor receptor (EGFR), HER2, and HER4. We present a phase Ib/II study of a combination of varlitinib and weekly paclitaxel as a second-line treatment for patients with EGFR/HER2 co-expressing advanced gastric cancer (AGC).
Result
Genomic alteration landscape in circulating tumor DNA analysis according to the progression-free survival (PFS), overall survival (OS), and EGFR/HER2 immunohistochemical expression (n=15).
Conclusion
A combination of varlitinib and paclitaxel displayed manageable toxicity and modest antitumor activity in patients with EGFR/HER2 co-expressing AGC who progressed after first-line chemotherapy.
Method
The circulating tumor DNA (ctDNA) was extracted from the patient’s plasma (10 mL) at two time points (before treatment and at the first response evaluation or end of the treatment). The DNA NGS library and solution-based target enrichment were performed at IMBdx, Inc. (Seoul, Korea), using AlphaLiquid100. The captured DNA libraries were sequenced using the Illumina NovaSeq 6000 platform (Illumina, San Diego, CA) in the 2×150 bp paired-end mode.
Related Product
Circulating Tumor DNA Panel for
Colorectal / Lung / Breast Cancer
The circulating tumor DNA (ctDNA) was extracted from the patient’s plasma (10 mL) at two time points (before treatment and at the first response evaluation or end of the treatment). The DNA NGS library and solution-based target enrichment were performed at IMBdx, Inc. (Seoul, Korea), using AlphaLiquid100. The captured DNA libraries were sequenced using the Illumina NovaSeq 6000 platform (Illumina, San Diego, CA) in the 2×150 bp paired-end mode.
| Colorectal Cancer | ||
|---|---|---|
| Sensitivity | Freq. 0.5% | 100% |
| Freq. 1.0% | 100% | |
| Specificity | 97.9% | |
| Breast Cancer | ||
|---|---|---|
| Sensitivity | Freq. 0.5% | 94.4% |
| Freq. 1.0% | 100% | |
| Specificity | 96.3% | |
| Lung Cancer | ||
|---|---|---|
| Sensitivity | Freq. 0.5% | 100% |
| Freq. 1.0% | 100% | |
| Specificity | 100% | |
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