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OnkoSightTM Next-Generation Sequencing (NGS) TUMOR MUTATION BURDEN

Tumor Mutation Burden (TMB) is the measurement of total number of somatic mutations per million bases (Mb) in a defined region of a tumor genome. TMB varies according to tumor types, as well as among patients.

In the recent years, TMB has gained importance since many clinical studies demonstrated that it is highly predictive of patient’s response to immunotherapies. These studies have identified association between high TMB and improved patient outcomes in response to anti-PD/PD-L1 and anti-CTLA-4 therapies in multiple tumor types, such as non-small cell lung cancer (NSCLC), melanoma, squamous cell carcinoma of the head and neck, small lung cancer, and urothelial carcinoma.1

OnkoSight NGS Tumor Mutation Burden Assay requires minimal sample requirement of 20ng and can interrogate ~1.7MB of the genome, thus increasing accuracy. Below is the list of genes that are included in OnkoSight NGS TMB assay.

A8L2 CD79A EPHB1 GRM8 LIFR MYH9 PMS1 SOX2 WAS GNAS ATRX
ACVR2A CD79B EPHB4   LPHN3 NCOA1 POT1 SSX1 WHSC1 HFN1A BAP1
ADAMTS2 CDC73 EPHB6 HCAR1 LPP NCOA2 POU5F1 STK36 WRN HRAS CDK12
AFF1 CDH1 ERCC1 HIF1A LRP18 NCOA4 PPARG SUFU XPA IDH1 CDKN2A
AFF3 CDH11 ERCC3 HLF LTF NFK81 PPP2R1A SYK XPC IDH2 CDKN2B
AKAP9 CDH2 ERCC4 HOOK3 LTK NFK82 PRDM1 SYNE1 XP01 JAK2 CEBPA
APC CDH20 ERCC5 HSP90AA1 MAF NIN PRKAR1A TAF1 XRCC2 KOR CHEK1
ARID2 CDH5 ERG HSP90A81 MAF8 NKX2-1 PRKDC TAF1L ZNF384 KIT CHEK2
ARNT CDK8 ETS1 ICK MAGEA1 NLRP1 PSIP1 TAL1 ZNF521 KRAS CREBBP
ATF1 CDKN2C ETV1 IGF1R MAGl1 NOTCH4 PTGS2 T8X22 ABL1 MAP2K1 DNMT3A
AURKA CIC ETV4 IGF2 MALT1 NSD1 PTPRD TCF12 AKT1 MAP2K2 FANCA
AURK8 CKS1B EXT1 IGF2R MAML2 NUMA1 PTPRT TCF3 AKT2 MAP2K4 FANCD2
AURKC CMPK1 EXT2 IKBKB MAP3K7 NUP214 RALGDS TCF7L1 AKT3 MAPK1 FBXW7
AI3 COL1A1 FAM123B IKBKE MAPK8 NUP98 RARA TCF7L2 ALK MET MLH1
8CL10 CRBN FANCC IKZF1 MARK1 PAK3 RECQL4 TCL1A AR MPL MSH2
8CL11A CREB1 FANCF IL2 MARK4 PARP1 REL TET1 AXL MTOT MSH6
8CL118 CRKL FANCG IL21R M8D1 PAX3 RHOH TFE3 BRAF MTC NBN
8CL2 CRTC1 FANCJ IL6ST MCL1 PAXS RNASEL TGF8R2 CBL MYCN NF1
8CL2L1 CSMD3 FAS IL7R MDM2 PAX? RNF2 TGM7 CCND1 NFE2L2 NF2
8CL2L2 CTNNA1 FH ING4 MDM4 PAX8 RNF213 TH8S1 CDK4 NRAS NOTCH1
8CL3 CTNNB1 FLCN IRF4 MEN1 P8RM1 RPS6KA2 TIMP3 CDK6 NTRK1 NOTCH2
8CL6 CYLD FLl1 IRS2 MITF P8X1 RRM1 TLR4 CSF1R NTRK3 NPM1
8CL9 CYP2C19 FLT1 ITGA10 MLL PDE4DIP RUNX1T1 TLX1 DDR2 PDGFRA PALB2
8CR CYP2D6 FLT4 ITGA9 MLL2 PDGF8 SAMD9 TNFAIP3 EGFR PDGFRB PIK3R1
81RC2 DAXX FN1 ITGB2 MLL3 PER1 SBDS TNFRSF14 ERBB2 PIK3CA PMS2
81RC3 DCC FOXL2 ITGB3 MLLT10 PGAP3 SDHA TNK2 ERBB3 PIK3CB PTCH1
81RC5 0082 FOX01 JAK1 MMP2 PHOX28 SDHB TOP1 ERBB4 PTPN11 PTEN
8LM DDIT3 FOX03 JAK3 MN1 PIK3C28 SDHD TPR ERCC2 RAF1 RADSO
8LNK DEK FOXP1 JUN MRE11A PIK3CD SOHO TRIM24 ESR1 RET RB1
8MPR1A DICER1 FOXP4 KAT6A MTR PIK3CG SEPT9 TRIM33 EZH2 ROS1 RUNX1
8RD3 DPYD FZR1 KAT6B MTRR PIK3R2 SGK1 TRIP11 FGFR1 SF3B1 SETD2
8TK DST G6PD KDM5C MTRR PIM1 SH2D1A TRRAP FGFR2 SMO SMARCA4
8U818 EML4 GATA1 KDM6A MUTYH PKHD1 SMAD2 TSHR FGFR3 SRC SMARCB1
CARD11 EP300 GATA2 KEAP1 MY8 PLAG1 SMAD4 U8R5 FGFR4 ARID1A STK11
CASCS EP400 GATA3 KLF6 MYCL1 PLCG1 SMUG1 UGT1A1 FLT3 ASXL1 TET2
CCND2 EPHA3 GDNF LAMP1 MYD88 PLEKHGS SOCS1 USP9X GNA11 ATM TP53
CCNE1 EPHA7 GPR124 LCK MYH11 PML SOX11 VHL GNAQ ATR TSC1
TSC2 WT1
Reference

  1. Stenzinger A, Allen JD, Maas J et al., Tumor Mutation Burden Standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decision Gene Chromosomes Cancer 2019 Aug:58(8):578-588 doi:10.1002/gcc.22733 Epub 2019 Mar 7
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