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.

hereditary-cancer
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.

hereditary-cancer

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 Add-On Service: Genes can be added by customer’s request.
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

Ready-to-use-panel

Comprehensive NGS panel for identifying and characterizing the molecular fingerprint for solid tumors with market-leading sensitivity

related-product

Highly optimized, user- convenient NGS library preparation kit for all Celemics panels

Celemics Analysis Service

End-to-end complete Bioinformatics solution; Trust CAS with your BI analysis

Streptavidin Bead

Incomparable quality magnetic bead for simple, flexible, and reproducible purification

Resources

Technical Resources

[Product Sheet] OncoRiskPanel

[Product Overview] Celemics Target Enrichment Panel Overview

[Catalogue] Celemics Products & Service Catalogue_All Products & Service

Safety Data Sheets

MSDS_OncoRisk Panel_Illumina_Enzymeplus

MSDS_OncoRisk Panel_Illumina

MSDS_OncoRisk Panel_Thermo Fisher

MSDS_OncoRisk Panel_MGI_EnzymePlus

MSDS_OncoRisk Panel_MGI

References

Exp Cell Res

The combination of osimertinib with Raf inhibitor overcomes osimertinib resistance induced by KRAS amplification in EGFR-mutated lung cancer cells

Lee T-G, Kang H-M, Kim SY, Kim H-R, Kim CH. The combination of osimertinib with Raf inhibitor overcomes osimertinib resistance induced by KRAS amplification in EGFR-mutated lung cancer cells. Exp Cell Res. 2023;430(1):113722.

 

10.1016/j.yexcr.2023.113722


View Detail >

Eskisehir Med J

SPECTRUM OF GERMLINE CANCER SUSCEPTIBILITY GENE MUTATIONS IN BREAST AND OVARIAN CANCER PATIENTS IN THE BLACK SEA REGION OF TURKEY: SINGLE CENTER EXPERIENCE

Çitli Ş, Dağcıoğlu Y, Aydın E, Kurtçu K. Spectrum of germline cancer susceptibility gene mutations in breast and ovarian cancer patients in the Black Sea region of turkey: Single center experience. esmj. 2023

 

10.48176/esmj.2023.102


View Detail >

Hum Genomics

Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea

Yun J, Song H, Kim S-M, Kim S, Kwon SR, Lee YE, et al. Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea. Hum Genomics. 2023;17(1).

 

10.1186/s40246-023-00458-8


View Detail >

Cancer Research and Treatment

Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA

Yoon J-K, Ahn J, Kim S, Kim H-P, Kang J-K, Bang D, et al. Efficacy of olaparib in treatment-refractory, metastatic breast cancer with uncommon somatic BRCA mutations detected in circulating tumor DNA. Cancer Res Treat. 2023;55(3):1048–52.

 

10.4143/crt.2022.1529


View Detail >