Product Data Sheet nCounter® v2 Cancer CN Assay nCounter® v2 Cancer CN Assay Product Highlights • Copy number analysis of 87 genes commonly amplified or deleted in cancer • Optimized for analysis of FFPE samples • Unparalleled precision • Accurate quantitation of highly amplified genes • Simple, robust assay protocol nCounter® v2 Cancer CN Assay The nCounter v2 Cancer CN Assay Kit is a highly multiplexed assay that enables copy number quantification for 87 genes commonly amplified or deleted in cancer including PIK3CA, AKT, PTEN, BRCA, ERBB2, and MYC (TABLE 1). Based on NanoString’s proven digital, molecular counting chemistry, the assay delivers unparalleled precision and accurately quantifies genes that are amplified to 10s or even 100s of copies. The assay is optimized for analysis of FFPE samples and shows excellent correlation in comparisons of matched fresh frozen and FFPE samples. For research use only, the nCounter v2 Cancer CN Assay Kit enables researchers to rapidly generate a copy number profile for hundreds of specimens per week. A run can be set up with only 45 minutes hands-on time and results are available the next day (FIGURE 1). Table 1: v2 Cancer CN Assay Gene List. nCounter® Cancer CN Assay Gene List AKT2 BCL2L2 CCNE1 CSMD1 ERBB2 GRB2 KIT MDM2 MYCL1 PARK2 PTPRD TERT YAP1 AKT3 BIRC2 CDK4 DCC FADD HMGA2 KRAS MDM4 MYCN PAX9 RB1 TP53 YWHAZ ZNF217 APC BRCA1 CDK6 DCUN1D1 FGFR1 IGF1R MAGI3 MELK NCOA3 PDE4D REG4 TP73 AR BRCA2 CDKN1A DYRK2 FHIT IRS2 MAP2K4 MET NF1 PDGFRA REL TRAF2 AURKA C8orf4 CDKN2A E2F3 FOXO1 ITGB4 MAP3K5 MITF NKX2-1 PIK3CA RPS6KB1 VEGFA BBC3 CCND1 CDKN2C EEF1A2 GAB2 JUN MAPK7 MYB NKX2-8 PRKCI SHH WHSC1L1 BCL2L1 CCND2 CRKL EGFR GPC5 KDR MCL1 MYC ORAOV1 PTEN SKP2 WT1 Molecules That Count® Translational Research Gene Expression miRNA Expression Epigenomics Copy Number Variation 1 nCounter® v2 Cancer CN Assay Product Data Sheet The nCounter CN Assay protocol enables profiling in 4 easy steps: 45 Minutes Hands-on Time per Run 1 2 3 4 Fragment Hybridize Purify Count Fragment DNA either via Alul digestion or Covaris AFA™. Hybridize fragmented DNA with the nCounter CodeSet. Place hybridized samples in the nCounter Prep Station for automated post-hyb processing. Transfer the nCounter cartridge from the Prep Station to the nCounter Digital Analyzer for image acquisition and analysis. 30 minutes hands-on 5 minutes hands-on 5 minutes hands-on 5 minutes hands-on Day 1 Day 1 Day 2 (automated) Day 2 (automated) nCounter® Analysis System The nCounter Analysis System from NanoString™ offers a simple, cost-effective way to profile hundreds of mRNAs, microRNAs, or CNVs simultaneously with high sensitivity and precision. The digital detection of target molecules and high levels of multiplexing eliminate the compromise between data quality and data quantity, bringing better sensitivity, reproducibility, and linearity to your results. It is ideal for studying defined gene sets across a large sample set. The system utilizes a novel digital technology that is based on direct multiplexed quantification of nucleic acids and offers high levels of precision and sensitivity. The technology uses molecular “barcodes” and single molecule imaging to detect and count hundreds of unique targets in a single reaction. Unlike other methods, the protocol does not include any amplification steps that might introduce bias to the results. nCounter® CNV Assays The nCounter CNV Assays allow researchers to quantify copy number for up to 800 regions of the human genome in a single multiplexed reaction. The nCounter CNV Assays are based on the standard nCounter assay with two important additions: DNA fragmentation and denaturation. These two steps yield single-stranded targets for hybridization with nCounter probe pairs which are comprised of a Reporter Probe which carries the signal, and a Capture Probe which allows the complex to be immobilized for data collection. After hybridization, samples are transferred to the nCounter Prep Station where excess probes are removed and probe/target complexes are aligned and immobilized in the nCounter Cartridge. Cartridges are then placed in the nCounter Digital Analyzer for data collection. Each CNV probe pair is identified by the “color code” generated by six ordered fluorescent spots present on the Reporter Probe. The Reporter Probes on the surface of the cartridge are then counted and tabulated. Cancer CN CodeSet Design The nCounter v2 Cancer CN CodeSet is designed to genes that have shown copy number variation in many cancers. Several publicly available sources were used to generate the gene list (literature reviews, specific publications, public databases, feedback from experts). A preliminary list was generated combining genes from all public sources and then prioritizing and selecting genes based on the frequency of membership in the source lists. The preliminary list of genes was then refined further based on input from leading cancer researchers. The result is a list of 87 genes that are commonly amplified or deleted in cancer. The CodeSet includes multiple probes per gene to increase accuracy when analyzing FFPE samples. Also included are 54 probes targeting invariant regions, bringing the total number of probes in the CodeSet to 309. 2 0.0 MYCL1 1 2 3 Molecules That Count® 4 5 6 7 8 9 11 10 12 13 14 15 17 18 19 CRKL EEF1A2 MYCL1 CRKL EEF1A2 AURKA ZNF217 NCOA3 BCL2L1 BBC3 AKT2 CCNE1 DCC ITGB4 GRB2 RPS6KB1 BRCA1 ERBB2 NF1 MAPK7 MAP2K4 IGF1R PAX9 NKX2-­‐8 NKX2-­‐1 BCL2L2 IRS2 GPC5 RB1 FOXO1 BRCA2 MDM2 DYRK2 HMGA2 CDK4 KRAS CCND2 BIRC2 YAP1 GAB2 FADD ORAOV1 CCND1 WT1 PTEN TRAF2 MELK CDKN2A PTPRD MYC YWHAZ C8orf4 FGFR1 WHSC1L1 CSMD1 SHH MET CDK6 EGFR PARK2 MAP3K5 MYB VEGFA CDKN1A E2F3 APC PDE4D SKP2 TERT KDR KIT PDGFRA DCUN1D1 PIK3CA PRKCI MITF FHIT REL MYCN AKT3 MDM4 MCL1 REG4 MAGI3 JUN CDKN2C CCND2 HMGA2 DYRK2 KRAS copy number BIRC2 Copy Number CDK4 Tumor 1 KRAS YAP1 CRKL EEF1A2 AURKA ZNF217 NCOA3 BCL2L1 BBC3 AKT2 CCNE1 DCC ITGB4 GRB2 RPS6KB1 BRCA1 ERBB2 NF1 MAPK7 MAP2K4 IGF1R PAX9 NKX2-­‐8 NKX2-­‐1 BCL2L2 IRS2 GPC5 RB1 FOXO1 BRCA2 MDM2 DYRK2 HMGA2 CDK4 KRAS CCND2 BIRC2 YAP1 GAB2 FADD ORAOV1 CCND1 WT1 PTEN TRAF2 MELK CDKN2A PTPRD MYC YWHAZ C8orf4 FGFR1 WHSC1L1 CSMD1 SHH MET CDK6 EGFR PARK2 MAP3K5 MYB VEGFA CDKN1A E2F3 APC PDE4D SKP2 TERT KDR KIT PDGFRA DCUN1D1 PIK3CA PRKCI MITF FHIT REL MYCN AKT3 MDM4 MCL1 REG4 MAGI3 JUN CDKN2C MYCL1 TP73 CRKL EEF1A2 ZNF217 CRKL AURKA BCL2L1 AURKA NCOA3 EEF1A2 NCOA3 AKT2 ZNF217 BBC3 BBC3 DCC CCNE1 BCL2L1 CCNE1 GRB2 ITGB4 AKT2 BRCA1 ITGB4 RPS6KB1 DCC RPS6KB1 NF1 ERBB2 GRB2 MAP2K4 ERBB2 MAPK7 BRCA1 MAPK7 PAX9 IGF1R NF1 NKX2-­‐1 IGF1R NKX2-­‐8 MAP2K4 NKX2-­‐8 IRS2 BCL2L2 PAX9 BCL2L2 RB1 NKX2-­‐1 GPC5 BRCA2 GPC5 FOXO1 IRS2 DYRK2 FOXO1 MDM2 RB1 MDM2 CDK4 HMGA2 BRCA2 FF AURKA ZNF217 NCOA3 BCL2L1 BBC3 AKT2 CCNE1 DCC ITGB4 GRB2 RPS6KB1 BRCA1 ERBB2 NF1 MAPK7 MAP2K4 IGF1R PAX9 NKX2-­‐8 NKX2-­‐1 BCL2L2 IRS2 GPC5 RB1 FOXO1 BRCA2 MDM2 DYRK2 HMGA2 CDK4 KRAS CCND2 BIRC2 YAP1 GAB2 FADD ORAOV1 CCND1 WT1 PTEN TRAF2 MELK CDKN2A PTPRD MYC YWHAZ C8orf4 FGFR1 WHSC1L1 CSMD1 SHH MET CDK6 EGFR PARK2 MAP3K5 MYB VEGFA CDKN1A E2F3 APC PDE4D SKP2 TERT KDR KIT PDGFRA DCUN1D1 PIK3CA PRKCI MITF FHIT REL MYCN AKT3 MDM4 MCL1 REG4 MAGI3 JUN TP73 45.0 40.0 35.0 30.0 25.0 20.0 15.0 10.0 5.0 0.0 CDKN2C Number Copy Copy Number Tumor 2 5.0 4.5 4.0 3.5 3.0 2.5 2.0 1.5 1.0 0.5 0.0 TP73 Copy Number Tumor 3 FADD BIRC2 GAB2 CCND2 NanoString® Technologies Product Data Sheet Assay Performance To evaluate the performance of the nCounter v2 Cancer CN Assay Kit in relevant sample types, we used the kit to characterize matching flash frozen and FFPE samples from tumors. Data from three representative matched pairs are shown in Figure 2. The copy number profiles were highly concordant between the matching FFPE and FF samples for both tumors. Several genes were clearly identified as deleted (see CDKN2C and CDKN2A for Tumor 1) or highly amplified (e.g., ERBB2, NCOA3, ZNF217 for tumor 2). In addition, these data highlight the utility of the nCounter assay in identifying single copy deletions or amplifications, with several genes showing either 1 copy (E2F3, MAP3K5, and BIRC3 ) or 3 copies (GPC5, IRS2, and NCOA3) in both FF and FFPE. Correlation of Copy Number Calls for Matching Flash Frozen and FFPE Samples Figure 2: Copy number for genes included in the Cancer CN Assay CodeSet for 3 matched pairs of FF and FFPE tumor samples. The data was analyzed using diploid reference samples that matched the sample type as closely as possible. For the fresh frozen tissue, we used the cell line NA10851 as a control and for the FFPE samples we used the Cancer CN FFPE Reference data set (provided by NanoString with the Cancer CN Assay kit). DNA was fragmented by AluI digestion and the input amount was 300ng. FF FFPE FFPE FF FFPE Gene ID ID Gene FF FFPE Gene ID ID Gene 5.0 4.0 4.5 3.0 3.5 2.0 2.5 1.5 Series1 1.0 Series2 0.5 Gene ID 20 22 Chromosome # 3 Product Data Sheet nCounter® v2 Cancer CN Assay Description Specifications Genomic regions analyzed in one reaction 87 genes commonly amplified or deleted in cancer (average 3 probes/region) Recommended amount of starting material 300ng total genomic DNA Sample types supported Human genomic DNA from FFPE samples, fresh or frozen tissue, or cell lines Reproducibility > 99% Number of copies detected 0 – 4, multiallelic nCounter Prep Station throughput 12 samples < 2.5 hours nCounter Digital Analyzer throughput 12 samples / 2.7 hours Controls 54 invariant genomic regions, and spike-in process controls Description Quantity / Use Part Number (P/N) nCounter v2 Cancer CN Assay Kit 12 assays 24 assays 48 assays 96 assays CNV-CAN2-12 CNV-CAN2-24 CNV-CAN2-48 CNV-CAN2-96 nCounter Analysis System (includes the Prep Station and Digital Analyzer) 1 NCT-SYS-120 Additional nCounter Prep Station 1 NCT-PREP-120 Additional nCounter Digital Analyzer 1 NCT-DIGA-120 NanoString Technologies, Inc. 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For research use only. Not for use in diagnostic procedures. v.20130321