O GS Infinity é nosso painel de sequenciamento de nova geração (NGS) que analisa alterações na sequência do DNA e RNA do tumor, como mutações, amplificações, deleções e fusões. A detecção de alterações que afetam a função de determinados genes indica oportunidades de tratamento com as drogas-alvo ou com imunoterapia. Assim, o tratamento de cada paciente é feito de acordo com o perfil das alterações genômicas encontradas. Por meio de um laudo desenvolvido especialmente para a realidade da oncologia brasileira, o painel GS Infinity auxilia o médico na modelagem de um tratamento personalizado para cada paciente, de acordo com as mais avançadas diretrizes nacionais e internacionais.
Esse painel mapeia o DNA e RNA cerca de 700 genes, incluindo TODAS AS ALTERAÇÕES MOLECULARES QUE ORIENTAM TERAPIAS-ALVO E IMUNOTERAPIAS APROVADAS PARA USO NO BRASIL OU EM FASES AVANÇADAS DE PESQUISA CLÍNICA
Genes presentes no painel estudado cuja analise compreende: a) mutações (SNV – Single Nucleotide Variant, Indel – Insertion/Deletion), b) variações no número de cópias de genes (CNV – Copy Number Variation) e c) análise de fusões. Os números entre parêntesis correspondem a cobertura de éxons para cada gene.
a) SNV/Indel: ABL1 (1-11), ABL2 (1-13), ABR (1-23), ACVR1 (3-11), ACVR1B (1-9), ACVR2A (1-11), AJUBA (1-8), AKAP9 (1-50), AKT1 (1-15), AKT2 (2-14), AKT3 (1-14), ALK (1-29), ALOX12B (1-15), ALOX15B (1-14), AMER1 (2-3), ANKRD11 (3-14), ANKRD26 (1-34), APC (1-17), APLNR (1), AR (1-8), ARAF (2-16), ARFRP1 (2-8), ARHGAP26 (1-23), ARHGAP35 (1-6), ARID1A (1-20), ARID1B (1-20), ARID2 (1-21), ARID5B (1-10), ASXL1 (1-13), ASXL2 (1-12), ATM (2-64), ATR (1-47), ATRX (1-35), AURKA (2-11), AURKB (1-9), AURKC (1-7), AXIN1 (2-11), AXIN2 (1-11), AXL (1-20), B2M (1-3), BAP1 (1- 17), BARD1 (1-11), BBC3 (1-4), BCL10 (1-3), BCL2 (1-2), BCL2L1 (2-3), BCL2L11 (1-4), BCL2L2 (3-4), BCL6 (2-10), BCOR (2-15), BCORL1 (1-14), BCR (1-23), BIRC2 (2-9), BIRC3 (2-10), BLM (2-22), BMPR1A (3-13), BRAF (1-18), BRCA1 (2-24), BRCA2 (2-27), BRD4 (2-20), BRIP1 (2-20), BTG1 (1-2), BTG2 (1-2), BTK (2-19), C11orf30 (1-21), CALR (1-9), CARD11 (2-25), CASP8 (1-10), CASR (2-7), CBFB (1-6), CBL (1-16), CBLB (1-19), CCND1 (1-5), CCND2 (1-5), CCND3 (1-5), CCNE1 (1-12), CD22 (2-14), CD274 (2-7), CD276 (2-10), CD38 (1-8), CD44 (1-18), CD58 (1-6), CD70 (1-4), CD74 (1-8), CD79A (1- 5), CD79B (1-6), CDC73 (1-17), CDH1 (1-16), CDK12 (1-14), CDK2 (1-7), CDK4 (2-8), CDK6 (2-8), CDK7 (1-12), CDK8 (1-13), CDKN1A (2-3), CDKN1B (1-3), CDKN1C (1-4), CDKN2A (1-4), CDKN2B (1-2), CDKN2C (1-3), CEBPA (1), CENPA (1-4), CFTR (1-27), CHD2 (2-39), CHD4 (2-40), CHD8 (1-38), CHEK1 (1-13), CHEK2 (2-16), CIC (1-20), CIITA (1-19), CKS1B (1-3), COL17A1 (2-56), CPA1 (1-10), CRBN (1- 11), CREBBP (1-31), CRKL (1-3), CRLF2 (1-6), CSAD (1-17), CSF1R (2-22), CSF3R (1-18), CSNK1A1 (1-10), CTCF (3-12), CTLA4 (1-4), CTNNA1 (2-18), CTNNB1 (2-15), CTRC (1-8), CUL3 (1-16), CUL4A (1- 20), CUL4B (1-22), CUX1 (1-24), CXCR4 (1-2), CYLD (3-20), CYP17A1 (1-8), DAXX (1-8), DCUN1D1 (1-7), DDR1 (1-19), DDR2 (3-19), DDX3X (1-17), DDX41 (1-17), DDX5 (1-13), DEFB134 (1-2), DHX15 (1- 14), DHX9 (2- 28), DICER1 (1-28), DIS3 (1-21), DIS3L2 (2-21), DLX1 (1-3), DNAJB1 (1-3), DNMT1 (1-41), DNMT3A (1-23), DNMT3B (1-23), DOT1L (1-28), DPYD (1-23), E2F3 (1-7), EED (1-12), EGFL7 (2- 10), EGFR (1-28), EIF1AX (1-7), EIF4A2 (1-11), EIF4E (1-8), ELAC2 (1-24), ELF3 (2-9), EML4 (1-24), EP300 (1-31), EPCAM (1-9), EPHA2 (1-17), EPHA3 (1-17), EPHA5 (1-18), EPHA7 (1-17), EPHB1 (1-16), EPHB2 (1-17), EPHB4 (1-17), ERBB2 (1-31), ERBB3 (1-28), ERBB4 (1-28), ERCC1 (1-10), ERCC2 (1-23), ERCC3 (1-15), ERCC4 (1-11), ERCC5 (1-15), ERG (1-12), ERRFI1 (2-4), ESR1 (1-10), ESR2 (1-9), ETS1 (1-10), ETV1 (1-14), ETV4 (1-13), ETV5 (2-13), ETV6 (1-8), EWSR1 (1-17), EZH2 (2-20), EZR (1-14), FAM175A (1-9), FAM46C (2), FANCA (1-43), FANCC (2-15), FANCD2 (2-44), FANCE (1-10), FANCF (1), FANCG (1-14), FANCI (2-38), FANCL (1-14), FANCM (1-23), FAS (1-9), FAT1 (2-27), FBXO11 (1-23), FBXW7 (1-12), FGF1 (2-4), FGF10 (1-3), FGF12 (1-6), FGF14 (1-5), FGF19 (1-3), FGF2 (1-3), FGF23 (1- 3), FGF3 (1-3), FGF4 (1-3), FGF5 (1-3), FGF6 (1-3), FGF7 (2-4), FGF8 (1-6), FGF9 (1-3), FGFR1 (2-19), FGFR2 (1-18), FGFR3 (2-18), FGFR4 (1-18), FH (1-10), FLCN (4-14), FLI1 (1-10), FLT1 (1-30), FLT3 (1- 24), FLT4 (1-30), FOXA1 (1-2), FOXA2 (1-3), FOXL2 (1), FOXO1 (1-2), FOXP1 (1-21), FRS2 (3-10), FUBP1 (1-21), FYN (1-14), GABRA6 (1-9), GATA1 (2-6), GATA2 (2-7), GATA3 (2-6), GATA4 (2-7), GATA6 (2-7), GEN1 (2-14), GID4 (1-6), GLI1 (2-12), GNA11 (1-7), GNA13 (1-4), GNAI2 (1-8), GNAQ (1-7), GNAS (1-13), GPC3 (1-9), GPR124 (1-19), GPS2 (1-10), GRB2 (2-6), GREM1 (2), GRIN2A (2-14), GRM3 (1-6), GSK3B (1- 11), H3F3A (2-4), H3F3B (2-4), H3F3C (1), HDAC1 (1-14), HGF (1-18), HIF1A (1-15), HIST1H1C (1), HIST1H2BD (1), HIST1H3A (1), HIST1H3B (1), HIST1H3C (1), HIST1H3D (2), HIST1H3E (1), HIST1H3F (1), HIST1H3G (1), HIST1H3H (1), HIST1H3I (1), HIST1H3J (1), HIST2H3D (1), HIST3H3 (1), HLA-A (1-8), HLA-B (1-7), HLA-C (1-8), HNF1A (1-9), HNRNPK (3-17), HOXB13 (1-2), HOXC6 (1- 3), HRAS (2-6), HSD3B1 (2-4), HSP90AA1 (1-12), ICOSLG (1-7), ID3 (1-2), IDH1 (3-10), IDH2 (1-11), IDO1 (1-10), IDO2 (1-11), IFNGR1 (1-7), IFNGR2 (1-8), IGF1 (1-5), IGF1R (1-21), IGF2 (2-5), IKBKE (3- 22), IKZF1 (2-8), IKZF3 (1-8), IL10 (1-5), IL6R (1-10), IL6ST (3-17), IL7R (1-8), ING1 (1-2), INHA (1-2), INHBA (2-3), INPP4A (3-26), INPP4B (2-27), INSR (1-22), IRF1 (2-10), IRF2 (2-9), IRF4 (2-9), IRS1 (1), IRS2 (1-2), JAK1 (2-25), JAK2 (3-25), JAK3 (2-24), JUN (1), KAT6A (2-18), KDM5A (1-28), KDM5C (1-26), KDM6A (1-29), KDR (1-30), KEAP1 (1-6), KEL (1-19), KIAA1549 (1-20), KIF5B (1-25), KIT (1-21), KLF2 (1-3), KLF4 (1- 5), KLHL6 (1-7), KMT2A (1-36), KMT2B (1-37), KMT2C (1-60), KMT2D (1-54), KRAS (2-6), LAMP1 (1-9), LATS1 (1-8), LATS2 (2-8), LMO1 (1-4), LRP1B (1-91), LTK (1-20), LYN (2-13), LZTR1 (1-21), MAF (1-2), MAGEC3 (1-8), MAGI2 (1-22), MALT1 (1-17), MAML2 (1-5), MAP2K1 (1-11), MAP2K2 (1-11), MAP2K4 (1-12), MAP3K1 (1-20), MAP3K13 (2-15), MAP3K14 (2-17), MAP3K4 (1- 27), MAP3K7 (1-17), MAPK1 (1- 8), MAPK3 (1-8), MAX (1-5), MC1R (1), MCL1 (1-3), MDC1 (2-15), MDM2 (1-11), MDM4 (2-11), MECOM (1-17), MED12 (1-45), MEF2B (2-10), MEN1 (1-11), MERTK (1- 19), MET (2-21), MGA (2-24), MGMT (1- 5), MITF (1-10), MKNK1 (2-14), MLH1 (1-20), MLLT3 (1-11), MPL (1-12), MRE11A (2-20), MSH2 (1-17), MSH3 (1-24), MSH6 (1-10), MST1 (1-18), MST1R (1- 20), MTAP (1-8), MTOR (2-58), MUTYH (1-16), MYB (1-16), MYC (1-3), MYCL (1-3), MYCN (1-3), MYD88 (1-5), MYH9 (2-41), MYOD1 (1-3), NAB2 (1-7), NBN (1-16), NCOA2 (3-23), NCOA3 (3-23), NCOR1 (1-46), NCOR2 (2-48), NEGR1 (1-7), NF1 (1-58), NF2 (1-16), NFE2L2 (1-5), NFKB2 (2-23), NFKBIA (1-6), NKX2-1 (1-3), NKX3-1 (1-3), NLRC5 (3-49), NOTCH1 (1-34), NOTCH2 (1-34), NOTCH3 (1- 33), NOTCH4 (1-30), NPM1 (1-11), NR3C1 (2-9), NRAS (2-5), NRG1 (1-13), NSD1 (2-24), NT5C2 (1-18), NTHL1 (1-6), NTRK1 (1-17), NTRK2 (2-21), NTRK3 (2-19), NUP93 (2-22), NUTM1 (1-8), P2RY8 (2), PAK1 (2-16), PAK3 (1-18), PAK7 (3-11), PALB2 (1-13), PARK2 (1- 12), PARP1 (1-23), PARP2 (1-16), PARP3 (1-12), PAX3 (1-10), PAX5 (1-10), PAX7 (1-9), PAX8 (2-12), PBRM1 (1-30), PCBP1 (1), PDCD1 (1-5), PDCD1LG2 (2-7), PDGFRA (2-23), PDGFRB (2-23), PDK1 (1- 12), PDPK1 (1-14), PGR (1-8), PHF6 (2-10), PHOX2B (1-3), PIAS3 (1-14), PIAS4 (1-11), PIK3C2B (3-35), PIK3C2G (1-32), PIK3C3 (1-25), PIK3CA (2-21), PIK3CB (1-23), PIK3CD (3-24), PIK3CG (2-11), PIK3R1 (1-16), PIK3R2 (2-16), PIK3R3 (1-11), PIM1 (1-6), PIM2 (1-6), PIM3 (1-6), PLCG1 (1-32), PLCG2 (2-33), PLK2 (1-14), PMAIP1 (1-2), PML (1-9), PMS1 (2-13), PMS2 (1-15), PNRC1 (1-2), POLD1 (1-27), POLE (1-49), POLQ (1-30), POT1 (5-19), PPARG (1-8), PPM1D (1-6), PPP2R1A (1-15), PPP2R2A (1-10), PPP4R2 (1-9), PPP6C (1-8), PRAME (2-6), PRC1 (1-15), PRDM1 (1-7), PREX2 (1-40), PRKAR1A (1- 12), PRKCI (1-18), PRKDC (1-87), PRSS1 (1-5), PRSS8 (1-6), PSIP1 (1-16), PSMA1 (1-11), PSMB5 (1-4), PSMD1 (1-24), PSMG2 (1-7), PTCH1 (1-23), PTEN (1-9), PTK2 (1-33), PTPN11 (1-15), PTPRD (1-43), PTPRO (1-26), PTPRS (2-38), PTPRT (1-32), QKI (1-8), QSER1 (3-13), RAB35 (1-6), RAC1 (1-7), RAD21 (2-14), RAD50 (1-25), RAD51 (2-10), RAD51B (2-11), RAD51C (1-9), RAD51D (1-10), RAD52 (2-12), RAD54L (1-19), RAF1 (2-17), RANBP2 (1-29), RARA (1-9), RASA1 (1-25), RB1 (1-27), RBM10 (1-24), RECQL4 (1-22), REL (1-11), REST (2-4), RET (1-20), RFWD2 (1-20), RFX5 (3-11), RFXAP (1-3), RHEB (1-8), RHOA (2-5), RICTOR (1-39), RIT1 (1-6), RNASEL (2-7), RNF43 (2-10), ROS1 (1-43), RPL22 (1-4), RPL5 (1-8), RPS6KA4 (1-17), RPS6KB1 (1-15), RPS6KB2 (1-15), RPTOR (1-34), RRM1 (1-19), RSPO2 (2-6), RUNX1 (1-9), RUNX1T1 (1-15), RXRA (1-10), RYBP (1-4), SDC4 (1-5), SDHA (1-15), SDHAF2 (1-4), SDHB (1-8), SDHC (1-6), SDHD (1-5), SERPINB3 (2-8), SERPINB4 (2-8), SETBP1 (2-6), SETD2 (1- 21), SF3B1 (1-25), SGK1 (1-14), SH2B3 (2-8), SH2D1A (1-4), SHQ1 (1-11), SIN3A (2-21), SLC34A2 (2-13), SLIT2 (1-37), SLX4 (2-15), SMAD2 (2-11), SMAD3 (1-9), SMAD4 (2-12), SMARCA4 (1-36), SMARCB1 (1-9), SMARCD1 (1-13), SMARCE1 (2-11), SMC1A (1-25), SMC3 (1-29), SMG1 (1-63), SMO (1-12), SNCAIP (2-14), SOCS1 (2), SOS1 (1-23), SOX10 (2-4), SOX17 (1-2), SOX2 (1), SOX9 (1-3), SPEN (1-15), SPINK1 (1-4), SPOP (2-12), SPTA1 (1-52), SRC (3-14), SRSF2 (1-2), STAG1 (2-34), STAG2 (2-35), STAT1 (3-25), STAT3 (2-24), STAT4 (2-24), STAT5A (2-20), STAT5B (2-19), STAT6 (2-22), STK11 (1-9), STK40 (2-12), SUFU (1-12), SUZ12 (1-16), SYK (2-14), TAF1 (1-39), TAF3 (1-7), TAP1 (1-11), TAP2 (2-12), TAPBP (1-8), TBL1XR1 (3-16), TBX3 (1-8), TCEB1 (2-6), TCF12 (1-20), TCF3 (1-19), TCF7L2 (1-15), TEK (1-23), TERC (1), TERT (1-16), TET1 (2-12), TET2 (2-11), TFE3 (1-10), TFEB (1-10), TFRC (2-19), TGFBR1 (1-9), TGFBR2 (1- 8), TIPARP (2-6), TLR4 (1-4), TMEM127 (2-4), TMPRSS2 (1- 14), TNFAIP3 (2-9), TNFRSF14 (1-8), TOP1 (1-21), TOP2A (1-35), TP53 (2-12), TP53BP1 (1-28), TP63 (1-14), TP73 (1-14), TRAF2 (2-11), TRAF3 (2-11), TRAF7 (2-21), TSC1 (3-23), TSC2 (1-42), TSHR (1-11), TYR (1-5), TYRO3 (1-19), U2AF1 (1-9), UGT1A1 (1-5), UVRAG (1-15), VEGFA (1-7), VHL (1-3), VTCN1 (1-5), WHSC1 (1-24), WHSC1L1 (2-24), WISP3 (1-6), WRN (2-35), WT1 (1-10), XBP1 (1-5), XIAP (2-7), XPO1 (2-25), XRCC2 (1-3), YAP1 (1-9), YES1 (2-12), ZBTB2 (2-3), ZBTB7A (2-3), ZFHX3 (2-10), ZFP36L1 (1-2), ZMYM2 (3-26), ZMYM3 (2-25), ZNF217 (1-5), ZNF703 (1-2), ZNF750 (2-3), ZRSR2 (1-11)
b) CNV: APC, AR, ATM, ATR, ATRX, BAP1, BARD1, BRCA1, BRCA2, BRIP1, CCND1, CCND2, CCNE1, CD274, CDH1, CDK12, CDK4, CDK6, CDKN2A, CDKN2B, CHEK1, CHEK2, EGFR, ERBB2, ESR1, FANCA, FANCC, FANCL, FGF19, FGFR1, FGFR2, FGFR3, FH, FLCN, KEAP1, KRAS, MDM2, MET, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYC, MYCN, NBN, NF1, NOTCH1, NOTCH2, PALB2, PDGFRA, PDGFRB, PIK3CA, PMS2, POLE, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, STK11, TP53, TSC1, TSC2, VHL
c) Fusões gênicas: ABL1 (1-11), AKT3 (1-14), ALK (1-29), AR (1-8), ARHGAP26 (1-23), AXL (1-20), BCL2 (1-2), BRAF (1-18), BRCA1 (1-24), BRCA2 (1-28), BRD3 (1-12), BRD4 (1-20), CDK4 (1-8), CIC (1- 20), CSF1R (1-22), EGFR (1-28), EML4 (1-24), ERBB2 (1-31), ERG (1-12), ESR1 (4-10), ETS1 (1-10), ETV1 (1-14), ETV4 (1-13), ETV5 (1-13), ETV6 (1-8), EWSR1 (1-17), FGFR1 (1-19), FGFR2 (1-18), FGFR3 (1-18), FGFR4 (1-18), FGR (1-13), FLI1 (1-10), FLT1 (1-30), FLT3 (1-24), INSR (1-22), JAK2 (1-25), KDR (1-30), KIF5B (1-26), KIT (1-21), KMT2A (1-36), MAML2 (1-5), MAST1 (1-26), MAST2 (1-29), MET (1- 21), MLLT3 (1-11), MSH2 (1-17), MSMB (1-4), MUSK (1-15), MYB (1-16), MYC (1-3), NOTCH1 (1-34), NOTCH2 (1-34), NOTCH3 (1-33), NRG1 (1-13), NTRK1 (1-17), NTRK2 (1-21), NTRK3 (1-19), NUMBL (1- 10), NUTM1 (1-8), PAX3 (1-10), PAX7 (1-9), PDGFRA (1-23), PDGFRB (1-23), PIK3CA (1-21), PKN1 (1-22), PPARG (1-8), PRKCA (1-17), PRKCB (1-17), RAF1 (1-17), RELA (1-11), RET (1-20), ROS1 (1-43), RPS6KB1 (1-15), RSPO2 (1-6), RSPO3 (1-5), TERT (1-16), TFE3 (1-10), TFEB (1-10), THADA (1-38), TMPRSS2 (1-14)
Os resultados do GS Infinity são apresentados em um formato que facilita a interpretação e seleção de tratamentos personalizados. Uma equipe altamente especializada de patologistas, oncologistas, oncogeneticistas, biólogos moleculares e bioinformatas da OC Medicina de Precisão está sempre disponível para auxiliar a equipe médica na interpretação dos resultados.
Genes Analisados:
Prazos: 20 dias a partir da entrega do Material
Doenças Relacionadas: Este painel avalia os mais diversos tipos de câncer com alteração somática, em pacientes avançado/metastático
