Panel de NGS para la identificación de biomarcadores con validez clínica en tumores sólidos. Mutaciones, cambio de copias y reordenamientos en 161 genes con valor clínico:
Mutaciones puntuales en hotspots : AKT1, AKT2, AKT3, ALK, AR, ARAF, AXL, BRAF, BTK, CBL, CCND1, CDK4, CDK6, CHEK2, CSF1R, CTNNB1, DDR2, EGFR, ERB83, ERBB2, ERBB4, ERCC2, ESR1, EZH2, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FOXL2, GATA2, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HNF1A, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KDR, KIT, KNSTRN, KRAS, MAGOH, MAP2K1, MAP2K2, MAP2K4, MAPK1, MAX, MDM4, MED12, MET, MTOR, MYC, MYCN, MYD88, NFE2L2, NRAS, NTRK1, NTRK2, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PPP2R1A, PTPN11, RAC1, RAF1, RET, RHEB, RHOA, ROS1, SF3B1, SMAD4, SMO, SPOP, SRC, STAT3, TERT, TOP1, U2AF1, y XPO1.
Estudio de la secuencia codificante completa de: ARID1A, ATM, ATR, ATRX, BAP1, BRCA1, BRCA2, CDK12, CDKN1B, CDKN2A, CDKN2B, CHEK1, CREBBP, FANCA, FANCD2, FANCI, FBXW7, MLH1, MRE11A, MSH2, MSH6, NBN, NF1, NF2, NOTCH1, NOTCH2, NOTCH3, PALB2, PIK3R1, PMS2, POLE, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RNF43, SETD2, SLX4, SMARCA4, SMARCB1, STK11, TP53, TSC1 y TSC2.
Cambios de copias (CNVs) en los siguientes genes: AKT1, AKT2, AKT3, ALK, AR, AXL, BRAF, CCND1, CCND2, CCND3, CCNE1, CDK2, CDK4, CDK6, CDKN2A, CDKN2B, EGFR, ERBB2, ESR1, FGF19, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, IGF1R, KIT, KRAS, MDM2, MDM4, MET, MYC, MYCL, MYCN, NTRK1, NTRK2, NTRK3, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PPARG, RICTOR, TERT, TSC1 y TSC2.
Reordenamientos (traslocaciones/fusiones) en los siguientes genes: ALK, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, NTRK1, NTRK3, PDGFRA, PPARG, RAF1, RET, ROS1, AKT2, AR, BRCA1, BRCA2, CDKN2A, ERB84, ESR1, FGR, FLT3, JAK2, KRAS, MDM4, MET, MYB, MYBL1, NF1, NOTCH1, NOTCH4, NRG1, NTRK2, NUTM1, PDGFRB, PIK3CA, PRKACA, PRKACB, PTEN, RAD51B, RB1, RELA, RSPO2, RSPO3 y TERT.
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Panel de NGS para la
identificación de biomarcadores con validez clínica en tumores sólidos.
Mutaciones, cambio de copias y reordenamientos en 500 genes con
valor clínico:
Mutaciones puntuales en
hotspots : ABL1, ABL2, ACVR1, AKT1, AKT2, AKT3, ALK, AR, ARAF, ATP1A1,
AURKA, AURKC, AXL, BCL2, BCL2L12, BCL6, BCR, BMP5, BRAF, BTK, CAC- NA1D,
CARD11, CBL, CCND1, CCND2, CCND3, CCNE1, CD79B, CDK4, CDK6, CSF1R, CTNNB1, CUL1,
CYSLTR2, CHD4, DDR2, DGCR8, DROS- HA, E2F1, EGFR, EIF1AX, EPAS1, ERBB2, 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, MA- P2K2, 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, PD- GFRB, 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, TGF- BR1, TOP1, TPMT, TRRAP, TSHR, U2AF1, USP8, WAS, XPO1,
ZNF217, ZNF429.
Estudio de la secuencia
codificante completa de: 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, CIC, CIITA, CREBBP, CSMD3, CTCF, CTLA4, CUL3, CUL4A, CUL4B, CYLD,
CYP2C9, CYP2D6, CHEK1, CHEK2, 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
Cambios de copias (CNVs) en los
siguientes genes: 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, CIC, CREBBP, CSMD3, CTCF, CTLA4, CTNND2, CUL3, CUL4A,
CUL4B, CYLD, CYP2C9, CHD4, CHEK1, CHEK2, 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, 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.
Reordenamientos
(traslocaciones/fusiones) en los siguientes genes: 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, YAP1.
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