基因含量
This somatic gene panel evaluates 517 genes and 3 genomic signatures: Microsatellite Instability (MSI), Tumor Mutational Burden (TMB) and Genomic Instability (to evaluate the homologous recombination status). The genomic instability metric takes into account 3 genomic scares: Loss of heterozygosity (LOH), Telomeric Allelic Imbalance (TAI) and Large-scale State transition (LST).
1 Tests only offered for specific countries, please check availability in your country.
Complete coding region of the genes: ABRAXAS1, ACVR1B, ACVR2A, ADAMTS12, ADAMTS2, AMER1, APC, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AXIN1, AXIN2, B2M, BAP1, BARD1, BCOR, BLM, BMPR2, BRCA1, BRCA2, BRIP1, CALR, CASP8, CBFB, CD274, CD276, CDC73, CDH1, CDH10, CDK12, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CHEK1, CHEK2, CIC, CIITA, CREBBP, CSMD3, CTCF, CTLA4, CUL3, CUL4A, CUL4B, CYLD, CYP2C9, CYP2D6, DAXX, DDX3X, DICER1, DNMT3A, DOCK3, DPYD, DSC1, DSC3, ELF3, ENO1, EP300, EPCAM, EPHA2, ERAP1, ERAP2, ERCC2, ERCC4, ERCC5, ERRFI1, ETV6, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FBXW7, FUBP1, GATA3, GNA13, GPS2, HDAC2, HDAC9, HLA-A, HLA-B, HNF1A, ID3, INPP4B, JAK1, JAK2, JAK3, KDM5C, KDM6A, KEAP1, KLHL13, KMT2A, KMT2B, KMT2C, KMT2D, LARP4B, LATS1, LATS2, MAP2K4, MAP2K7, MAP3K1, MAP3K4, MAPK8, MEN1, MGA, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MTAP, MTUS2, MUTYH, NBN, NCOR1, NF1, NF2, NOTCH1, NOTCH2, NOTCH3, NOTCH4, PALB2, PARP1, PARP2, PARP3, PARP4, PBRM1, PDCD1, PDCD1LG2, PDIA3, PGD, PHF6, PIK3R1, PMS1, PMS2, POLD1, POLE, POT1, PPM1D, PPP2R2A, PRDM1, PRDM9, PRKAR1A, PSMB10, PSMB8, PSMB9, PTCH1, PTEN, PTPRT, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RASA1, RASA2, RB1, RBM10, RECQL4, RNASEH2A, RNASEH2B, RNASEH2C, RNF43, RPA1, RPL22, RPL5, RUNX1, RUNX1T1, SDHA, SDHB, SDHC, SDHD, SETD2, SLX4, SMAD2, SMAD4, SMARCA4, SMARCB1, SOCS1, SOX9, SPEN, STAG2, STAT1, STK11, SUFU, TAP1, TAP2, TBX3, TCF7L2, TET2, TGFBR2, TMEM132D, TNFAIP3, TNFRSF14, TP53, TP63, TPP2, TSC1, TSC2, UGT1A1, USP9X, VHL, WT1, XRCC2, XRCC3, ZBTB20, ZFHX3, ZMYM3, and ZRSR2.
Hotspot regions of the genes: ABCB1, ABL1, ABL2, ACVR1, AKT1, AKT2, AKT3, ALK, AR, ARAF, ATP1A1, AURKA, AURKC, AXL, BCL2, BCL2L12, BCL6, BCR, BMP5, BRAF, BTK, CACNA1D, CARD11, CBL, CCND1, CCND2, CCND3, CCNE1, CD79B, CDK4, CDK6, CHD4, CSF1R, CTNNB1, CTNND2, CUL1, CYSLTR2, DDR1, DDR2, DGCR8, DROSHA, E2F1, EGFR, EIF1AX, EMSY, EPAS1, ERBB2, ERBB3, ERBB4, ESR1, EZH2, FAM135B, FGF19, FGF23, FGF3, FGF4, FGF7, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FYN, GATA2, GLI1, GLI3, GNA11, GNAQ, GNAS, H1-4, H2BC5, H3-3A, H3-3B, H3C2, HIF1A, HRAS, IDH1, IDH2, IGF1R, IKBKB, IL6ST, IL7R, IRF4, IRS4, KDR, KIT, KLF4, KLF5, KNSTRN, KRAS, MAGOH, MAP2K1, MAP2K2, MAPK1, MAX, MCL1, MDM2, MDM4, MECOM, MED12, MEF2B, MET, MITF, MPL, MTOR, MYC, MYCL, MYCN, MYD88, MYOD1, NFE2L2, NRAS, NSD2, NT5C2, NTRK1, NTRK2, NTRK3, NUP93, PAX5, PCBP1, PDGFRA, PDGFRB, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R2, PIM1, PLCG1, PPP2R1A, PPP6C, PRKACA, PTPN11, PTPRD, PXDNL, RAC1, RAF1, RARA, RET, RGS7, RHEB, RHOA, RICTOR, RIT1, ROS1, RPL10, RPS6KB1, RPTOR, SETBP1, SF3B1, SIX1, SIX2, SLCO1B3, SMC1A, SMO, SNCAIP, SOS1, SOX2, SPOP, SRC, SRSF2, STAT3, STAT5B, STAT6, TAF1, TERT, TGFBR1, TOP1, TPMT, TRRAP, TSHR, U2AF1, USP8, WAS, XPO1, YAP1, YES1, ZNF217, and ZNF429.
ABCB1, ABL1, ABL2, ABRAXAS1, ACVR1B, ACVR2A, ADAMTS12, ADAMTS2, AKT1, AKT2, AKT3, ALK, AMER1, APC, AR, ARAF, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKC, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BCL2, BCL2L12, BCL6, BCOR, BLM, BMPR2, BRAF, BRCA1, BRCA2, BRIP1, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CDC73, CDH1, CDH10, CDK12, CDK4, CDK6, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CHD4, CHEK1, CHEK2, CIC, CREBBP, CSMD3, CTCF, CTLA4, CTNND2, CUL3, CUL4A, CUL4B, CYLD, CYP2C9, DAXX, DDR1, DDR2, DDX3X, DICER1, DNMT3A, DOCK3, DPYD, DSC1, DSC3, EGFR, EIF1AX, ELF3, EMSY, ENO1, EP300, EPCAM, EPHA2, ERAP1, ERAP2, ERBB2, ERBB3, ERBB4, ERCC2, ERCC4, ERRFI1, ESR1, ETV6, EZH2, FAM135B, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAT1, FBXW7, FGF19, FGF23, FGF3, FGF4, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FLT4, FOXA1, FUBP1, FYN, GATA2, GATA3, GLI3, GNA13, GNAS, GPS2, H3-3A, H3-3B, HDAC2, HDAC9, HLA-A, HLA-B, HNF1A, HRAS, IDH2, IGF1R, IKBKB, IL7R, INPP4B, JAK1, JAK2, JAK3, KDM5C, KDM6A, KDR, KEAP1, KIT, KLF5, KMT2A, KMT2B, KMT2C, KMT2D, KRAS, LARP4B, LATS1, LATS2, MAGOH, MAP2K1, MAP2K4, MAP2K7, MAP3K1, MAP3K4, MAPK1, MAPK8, MAX, MCL1, MDM2, MDM4, MECOM, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLH3, MPL, MRE11, MSH2, MSH3, MSH6, MTAP, MTOR, MUTYH, MYC, MYCL, MYCN, MYD88, NBN, NCOR1, NF1, NF2, NFE2L2, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PARP1, PARP2, PARP3, PARP4, PBRM1, PCBP1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDIA3, PGD, PHF6, PIK3C2B, PIK3CA, PIK3CB, PIK3R1, PIK3R2, PIM1, PLCG1, PMS1, PMS2, POLD1, POLE, POT1, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PRDM9, PRKACA, PRKAR1A, PTCH1, PTEN, PTPN11, PTPRT, PXDNL, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RASA1, RASA2, RB1, RBM10, RECQL4, RET, RHEB, RICTOR, RIT1, RNASEH2A, RNASEH2B, RNASEH2C, RNF43, ROS1, RPA1, RPS6KB1, RPTOR, RUNX1, RUNX1T1, SDHA, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SLCO1B3, SLX4, SMAD2, SMAD4, SMARCA4, SMARCB1, SMC1A, SMO, SOCS1, SOX9, SPEN, SPOP, SRC, STAG2, STAT1, STAT3, STAT5B, STAT6, STK11, SUFU, TAP1, TAP2, TBX3, TCF7L2, TERT, TET2, TGFBR2, TNFAIP3, TNFRSF14, TOP1, TP53, TP63, TPMT, TPP2, TSC1, TSC2, U2AF1, USP8, USP9X, VHL, WT1, XPO1, XRCC2, XRCC3, YAP1, YES1, ZFHX3, ZMYM3, ZNF217, ZNF429, ZRSR2.
CNVs gains and losses are evaluated for all these genes, except for MTOR. For the MOTR gene, only CNV gain is evaluated.
AKT1, AKT2, AKT3, ALK, AR, BRAF, BRCA1, CDKN2A, EGFR, ERBB2, ERBB4, ERG, ESR1, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MAP3K8, MET, MTAP, MYB, MYBL1, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, NUTM1, PIK3CA, PIK3CB, PPARG, PRKACA, PRKACB, RAF1, RARA, RELA, RET, ROS1, RSPO2, RSPO3, STAT6, TERT, TFE3, TFEB, and YAP1.
A1CF, ACSM2B, ADAM18, ANO4, ARMC4, AURKB, BRINP3, C6, C8A, C8B, CANX, CASR, CD163, CNTN6, CNTNAP4, CNTNAP5, COL11A1, DCAF4L2, DCDC1, GALNT17, GPR158, GRID2, HCN1, HLA-C, KCND2, KCNH7, KCNJ5, KEL, KIR3DL1, KRTAP21-1, KRTAP6-2, LRRC7, MARCO, NLRC5, NOL4, NRXN1, NYAP2, OR10G8, OR2G6, OR2L13, OR2L2, OR2L8, OR2M3, OR2T3, OR2T33, OR2T4, OR2W3, OR4A15, OR4C15, OR4C6, OR4M1, OR4M2, OR5D18, OR5F1, OR5L1, OR5L2, OR6F1, OR8H2, OR8I2, OR8U1, ORC4, PAK5, PCDH17, PDE1A, PDE1C, PLXDC2, POM121L12, PPFIA2, RBP3, REG1A, REG1B, REG3A, REG3G, RPTN, RUNDC3B, SH3RF2, SLC15A2, SLC8A1, SYT10, SYT16, TAPBP, TOP2A, TPTE, TRHDE, TRIM48, TRIM51, ZIM3, ZNF479, ZNF536.
* All the genes on the assay are used for TMB analysis, but these genes are only used in TMB analysis.
