Panel NGS integral para tumores sólidos

C-GEN Total Cáncer – Tumor Sólido permite secuenciar ADN y RNA para la identificación de variantes claves y con relevancia clínica en genes específicos y genes de fusión, además, medir biomarcadores inmunooncológicos de inestabilidad microsatelital (MSI) y la carga mutacional tumoral (TMB), todo en una sola muestra representativa del tumor sólido
(colorrectal, mama, pulmón, próstata, esófago, gástrico, páncreas, renal, vejiga, melanoma, entre otros) embebida en parafina.
SNVs/Indels
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ABL1, ABL2, ABR, ACVR1, ACVR1B, ACVR2A, ADGRA2 (GPR124), AJUBA, AKAP9, AKT1, AKT2, AKT3, ALK, ALOX12B, ALOX15B, AMER1, ANKRD11, ANKRD26, APC, APLNR, AR, ARAF, ARFRP1, ARHGAP26, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AURKC, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC2, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTG2, BTK, C11orf30, CALR, CARD11, CASP8, CASR, CBFB, CBL, CBLB, CCND1, CCND2, CCND3, CCNE1, CD22, CD274, CD276, CD38, CD44, CD58, CD70, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK2, CDK4, CDK6, CDK7, CDK8, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CFTR, CHD2, CHD4, CHD8, CHEK1, CHEK2, CIC, CIITA, CKS1B, COL17A1, CPA1, CRBN, CREBBP, CRKL, CRLF2, CSAD, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CTRC, CUL3, CUL4A, CUL4B, CUX1, CXCR4, CYLD, CYP17A1, DAXX, DCUN1D1, DDR1, DDR2, DDX3X, DDX41, DDX5, DEFB134, DHX15, DHX9, DICER1, DIS3, DIS3L2, DLX1, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, DPYD, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, ELAC2, ELF3, EML4, EP300, EPCAM, EPHA2, EPHA3, EPHA5, EPHA7, EPHB1, EPHB2, EPHB4, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ESR2, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, EZR, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FBXO11, FBXW7, FGF1, FGF10, FGF12, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1,FLT1, FLT3, FLT4, FOXA1, FOXA2, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAI2, GNAQ, GNAS, GPC3, GPS2, GRB2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HDAC1, HGF, HIF1A, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3C, HIST2H3D, HIST3H3, HLA, A, HLA, B, HLA, C, HNF1A, HNRNPK, HOXB13, HOXC6, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IDO1, IDO2, IFNGR1, IFNGR2, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IKZF3, IL10, IL6R, IL6ST, IL7R, ING1, INHA, INHBA, INPP4A, INPP4B, INSR, IRF1, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIAA1549, KIF5B, KIT, KLF2, KLF4, KLHL6, KMT2A, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LTK, LYN, LZTR1, MAF, MAGEC3, MAGI2, MALT1, MAML2, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAP3K7, MAPK1, MAPK3, MAX, MC1R, MCL1, MDC1, MDM2, MDM4, MECOM, MED12, MEF2B, MEN1, MERTK, MET, MGA, MGMT, MITF, MKNK1, MLH1, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTAP, MTOR, MUTYH, MYB, MYC, MYCL, MYCN, MYD88, MYH9, MYOD1, NAB2, NBN, NCOA2, NCOA3, NCOR1, NCOR2, NEGR1, NF1, NF2, NFE2L2, NFKB2, NFKBIA, NKX2, NKX3, NLRC5, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NR3C1, NRAS, NRG1, NSD1, NT5C2, NTHL1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, P2RY8, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PARP2, PARP3, PAX3, PAX5, PAX7, PAX8, PBRM1, PCBP1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, SHQ1, PIAS3, PIAS4, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PIM2, PIM3, PLCG1, PLCG2, PLK2, PMAIP1, PML, PMS1, PMS2, PNRC1, POLD1, POLE, POLQ, POT1, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP4R2, PPP6C, PRAME, PRC1, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS1, PRSS8, PSIP1, PSMA1, PSMB5, PSMD1, PSMG2, PTCH1, PTEN, PTK2, PTPN11, PTPRD, PTPRO, PTPRS, PTPRT, QKI, QSER1, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, REST, RET, RFWD2, RFX5, RFXAP, RHEB, RHOA, RICTOR, RIT1, RNASEL, RNF43, ROS1, RPL22, RPL5, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RRM1, RSPO2, RUNX1, RUNX1T1, RXRA, RYBP, SDC4, SDHA, SDHAF2, SDHB, SDHC, SDHD, SERPINB3, SERPINB4, SETBP1, SETD2, SF3B1, SGK1, SH2B3, SH2D1A, SIN3A, SLC34A2, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMARCE1, SMC1A, SMC3, SMG1, SMO, SNCAIP, SOCS1, SOS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPINK1, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT1, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TAF3, TAP1, TAP2, TAPBP, TBL1XR1, TBX3, TCEB1, TCF12, TCF3, TCF7L2, TEK, TERC, TERT, TET1, TFE3, TFEB, TFRC, TGFBR1, TGFBR2, TIPARP, TLR4, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP53BP1, TP63, TP73, TRAF2, TRAF3, TRAF7, TSC1, TSC2, TSHR, TYR, TYRO3, U2AF1, UGT1A1, UVRAG, VEGFA, VHL, VTCN1, WHSC1, WHSC1L1, WISP3, WRN, WT1, XBP1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZFP36L1, ZMYM2, ZMYM3, ZNF217, ZNF703, ZNF750, ZRSR2.
CNVs
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AR, BARD1, BRCA1, BRCA2, BRIP1, CCND1, CCND2, CCNE1, CD274, CDK4, CDK6, CDKN2A, ERBB2, KEAP1, KRAS, MDM2, MET, MYC, MYCN, PALB2, PIK3CA, PTEN, RAD51C, RAD51D, STK11, TP53.
Translocaciones:
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ALK: [18, 19], BRAF: [8, 9, 10], CIC: [18, 19], EGFR: [24, 25, 26], FGFR1: [3, 4, 5, 6, 7, 8, 9], FGFR2: [17], FGFR3: [17, 18], NTRK1: [8, 9, 10, 11], RAF1: [7, 8, 9], RET: [7, 10, 11], ROS1: [31, , 3, 34, 35], TMPRSS2: [1, 2, 3, 4]
Secuenciación ARN, genes de fusión:
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ABL1, AKT3, ALK, AR, ARHGAP26, AXL, BCL2, BRAF, BRCA1, BRCA2, BRD3, BRD4, CDK4, CIC, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FGR, FLI1, FLT1, FLT3, INSR, JAK2, KDR, KIF5B, KIT, KMT2A, MAML2, MAST1, MAST2, MET, MLLT3, MSH2, MSMB, MUSK, MYB, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, KN1, PPARG, PRKCA ,PRKCB, RAF1, RELA, RET, ROS1 ,RPS6KB1, RSPO2, RSPO3 ,TERT, TFE3 ,TFEB ,THADA ,TMPRSS2
Biomarcadores de inmunooncología

Inestabilidad de microsatélites (MSI) en tumores caracteriza la acumulación de mutaciones en secuencias repetitivas de ADN (microsatélites) secundarias a la disfunción en el sistema de reparación de errores de apareamiento (dMMR). Un puntaje alto (MSI-H) indica una mayor acumulación de errores en el ADN tumoral y es un biomarcador que ayuda a personalizar el tratamiento con inhibidores del punto de control inmunológico (ICI) en ciertos tipos de tumores sólidos como el cáncer colorrectal, gástrico, endometrio, entre otros.

La carga mutacional tumoral es la cantidad total de mutaciones no sinónimas en el ADN tumoral. Los tumores con una alta TMB pueden ayudar a personalizar el tratamiento y en definir si el tumor es sensible a inmunoterapia.
