Oncomine Comprehensive Assay Plus — Pathologie

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Oncomine Comprehensive Assay Plus (517 Gene, ThermoFisher)

Sequenzvarianten in Hotspot-Regionen von 165 Genen:

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, CUL1, CYSLTR2, DDR2, DGCR8, DROSHA, E2F1, EGFR, EIF1AX, EPAS1, ERBB2 (HER2), ERBB3, ERBB4, ESR1, EZH2, FAM135B, FGF7, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FLT4, FOXA1, FOXL2, FOXO1, GATA2, GLI1, GNA11, GNAQ, GNAS, H2BC5, H3-3A, H3-3B, H3C2, HIF1A, HRAS, IDH1, IDH2, IKBKB, IL6ST, IL7R, IRF4, IRS4, KDR, KIT, KLF4, KLF5, KNSTRN, KRAS, MAGOH, MAP2K1, MAP2K2, MAPK1, MAX, MDM4, MECOM, MED12, MEF2B, MET, MITF, MPL, MTOR, MYC, 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, 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, ZNF217, ZNF429

Sequenzvarianten in allen kodierenden Regionen von 227 Genen:

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, ZRSR2

Kopiezahlveränderungen (Amplifikation und Verlust) in 333 Genen:

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 (HER2), 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, 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, 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, RNF43, ROS1, RPA1, RPS6KB1, RPTOR, RUNX1, SDHA, SDHB, SDHD, SETBP1, SETD2, SF3B1, SLCO1B3, SLX4, SMAD2, SMAD4, SMARCA4, SMARCB1, SMC1A, SMO, SOX9, SPEN, SPOP, SRC, STAG2, STAT3, 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

Fusionstranskripte in 49 Driver Genen (RNA Panel):

AKT1, AKT2, AKT3, ALK, AR, BRAF, BRCA1, CDKN2A, EGFR, ERBB2 (HER2), 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, YAP1

Tumormutationslast: Quantifizierung der nicht-synonymen somatischen Sequenzvarianten in den kodierenden Abschnitten des Genpanels (der abgedeckte Bereich umfasst >1 Megabasen).

HRD-Status: Berechnung des Genomic Instability Metric (GIM)-Score auf Basis des probenspezifischen prozentualen Loss of Heterozygosity (%LOH).