OnkoSight™ 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.

A8L2CD79AEPHB1GRM8LIFRMYH9PMS1SOX2WASGNASATRX
ACVR2ACD79BEPHB4LPHN3NCOA1POT1SSX1WHSC1HFN1ABAP1
ADAMTS2CDC73EPHB6HCAR1LPPNCOA2POU5F1STK36WRNHRASCDK12
AFF1CDH1ERCC1HIF1ALRP18NCOA4PPARGSUFUXPAIDH1CDKN2A
AFF3CDH11ERCC3HLFLTFNFK81PPP2R1ASYKXPCIDH2CDKN2B
AKAP9CDH2ERCC4HOOK3LTKNFK82PRDM1SYNE1XP01JAK2CEBPA
APCCDH20ERCC5HSP90AA1MAFNINPRKAR1ATAF1XRCC2KORCHEK1
ARID2CDH5ERGHSP90A81MAF8NKX2-1PRKDCTAF1LZNF384KITCHEK2
ARNTCDK8ETS1ICKMAGEA1NLRP1PSIP1TAL1ZNF521KRASCREBBP
ATF1CDKN2CETV1IGF1RMAGl1NOTCH4PTGS2T8X22ABL1MAP2K1DNMT3A
AURKACICETV4IGF2MALT1NSD1PTPRDTCF12AKT1MAP2K2FANCA
AURK8CKS1BEXT1IGF2RMAML2NUMA1PTPRTTCF3AKT2MAP2K4FANCD2
AURKCCMPK1EXT2IKBKBMAP3K7NUP214RALGDSTCF7L1AKT3MAPK1FBXW7
AI3COL1A1FAM123BIKBKEMAPK8NUP98RARATCF7L2ALKMETMLH1
8CL10CRBNFANCCIKZF1MARK1PAK3RECQL4TCL1AARMPLMSH2
8CL11ACREB1FANCFIL2MARK4PARP1RELTET1AXLMTOTMSH6
8CL118CRKLFANCGIL21RM8D1PAX3RHOHTFE3BRAFMTCNBN
8CL2CRTC1FANCJIL6STMCL1PAXSRNASELTGF8R2CBLMYCNNF1
8CL2L1CSMD3FASIL7RMDM2PAX?RNF2TGM7CCND1NFE2L2NF2
8CL2L2CTNNA1FHING4MDM4PAX8RNF213TH8S1CDK4NRASNOTCH1
8CL3CTNNB1FLCNIRF4MEN1P8RM1RPS6KA2TIMP3CDK6NTRK1NOTCH2
8CL6CYLDFLl1IRS2MITFP8X1RRM1TLR4CSF1RNTRK3NPM1
8CL9CYP2C19FLT1ITGA10MLLPDE4DIPRUNX1T1TLX1DDR2PDGFRAPALB2
8CRCYP2D6FLT4ITGA9MLL2PDGF8SAMD9TNFAIP3EGFRPDGFRBPIK3R1
81RC2DAXXFN1ITGB2MLL3PER1SBDSTNFRSF14ERBB2PIK3CAPMS2
81RC3DCCFOXL2ITGB3MLLT10PGAP3SDHATNK2ERBB3PIK3CBPTCH1
81RC50082FOX01JAK1MMP2PHOX28SDHBTOP1ERBB4PTPN11PTEN
8LMDDIT3FOX03JAK3MN1PIK3C28SDHDTPRERCC2RAF1RADSO
8LNKDEKFOXP1JUNMRE11APIK3CDSOHOTRIM24ESR1RETRB1
8MPR1ADICER1FOXP4KAT6AMTRPIK3CGSEPT9TRIM33EZH2ROS1RUNX1
8RD3DPYDFZR1KAT6BMTRRPIK3R2SGK1TRIP11FGFR1SF3B1SETD2
8TKDSTG6PDKDM5CMUC1PIM1SH2D1ATRRAPFGFR2SMOSMARCA4
8U818EML4GATA1KDM6AMUTYHPKHD1SMAD2TSHRFGFR3SRCSMARCB1
CARD11EP300GATA2KEAP1MY8PLAG1SMAD4U8R5FGFR4ARID1ASTK11
CASCSEP400GATA3KLF6MYCL1PLCG1SMUG1UGT1A1FLT3ASXL1TET2
CCND2EPHA3GDNFLAMP1MYD88PLEKHGSSOCS1USP9XGNA11ATMTP53
CCNE1EPHA7GPR124LCKMYH11PMLSOX11VHLGNAQATRTSC1
TSC2WT1

OnkoSight NGS Tumor Mutation Burden Sample Report

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