Análise Genética de Tumores

Tumor Target Breast

Genes avaliados (according NCCN)

AKT1, ESR1, PIK3CA, NTRK1, NTRK2 and NTRK3.

Tumor Target Prostate

Genes avaliados (according NCCN)

ATM, BRCA1, BRCA2, BARD1, BRIP1, CHEK1, CHEK2, CDK12, PALB2, FANCA, FANCL, RAD51B, RAD51C, RAD51D and RAD54L.

Tumor Target Ovarian

Genes avaliados (according NCCN)

BRCA1, BRCA2, NTRK1, NTRK2 and NTRK3.

Tumor Target Bexiga

Genes avaliados (according NCCN)

FGFR2 and FGFR3.

Tumor Target Lung

Genes avaliados (according NCCN)

EGFR, KRAS, BRAF, ALK, ROS1, RET, MET, NTRK1, NTRK2 and NTRK3.

Tumor Target Colon FC

Genes avaliados (according NCCN)

KRAS, NRAS, BRAF, NTRK1, NTRK2 and NTRK3.

Tumor Target Tireoide

Genes avaliados (according NCCN)

BRAF, ALK, RET, NTRK1, NTRK2 and NTRK3.

Tumor Target Melanome

Genes avaliados (according NCCN)

BRAF, NRAS, KIT, NTRK1, NTRK2 and NTRK3.

Tumor Target GIST

Genes avaliados (according NCCN)

PDGFRA, KIT, BRAF, NTRK1, NTRK2, NTRK3, FGFR1, FGFR2, FGFR3 and FGFR4.

Tumor Target Glioma

Genes avaliados (according NCCN)

IDH1, IDH2, BRAF, MGMT (methylation) NTRK1, NTRK2 and NTRK and co-deletion 1p19q.

Tumor Action

Mutações pontuais

AKT1, AKT2, AKT3, ALK, AR, ARAF, BRAF, CDK4, CDKN2A, CHEK2, CTNNB1, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, GNA11, GNAQ, GNAS,, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, PTEN, RAF1, RET, ROS1, SMO, TP53.

Fusões inter-genes

ALK, BRAF, ESR1, FGFR1, FGFR2, FGFR13, MET, NRG1, NTRK1, NTRK2, NTRK3, NUTM1, RET, ROS1, RSPO2, RSPO3

Fusões inter-genes

AR, EGFR, MET

50 GENES

Lista dos 50 genes principais para análise de fusões:

ABL1 AKT3 ALK AXL ARID1A BRAF EGFR ERG ESR1 ETV1 ETV4 ETV5 ETV6 EWSR1 FGFR1 FGFR2 FGFR3 FUS JAK2 KIF5B KMT2A MAST1 MAST2 MET MSH2 MYH11 NOTCH1 NOTCH2 NR4A3 NRG1 NTRK1 NTRK2 NTRK3 PAX3 PBX1 PDGFRA PDGFRB PIK3CA PPARG RAF1 RARA RET ROS1 RSPO2 RSPO3 RUNX1 TAF15 TERT TFE3 TMPRSS2

As fusões envolvendo os 50 genes principais podem ocorrer com diferentes genes parceiros. Abaixo encontra-se a lista dos 209 genes parceiros:

ABI1 ABI2 ACSL3 ACTL6A ACTN4 AFAP1 AFF1 AFF3 AFF4 AGTRAP AKAP9 ANO10 ARHGAP26 ARHGEF12 ASPSCR1 ATF1 ATIC BAG4 BAIAP2L1 BCR BICC1 BTBD1 BTBD18 C2orf44 C8orf34 CANT1 CAPZA2 CARS CASC5 CASP7 CASP8AP2 CBFB CBL CCAR2 CCDC170 CCDC6 CD74 CEP170B CEP89 CIT CLCN6 CLIP1 CLTC CREB1 CREBBP DAB2IP DAZL DCTN1 DDIT3 DDX5 EIF3E ELL EMC2 EML4 EP300 EPCAM EPS15 ERC1 ERLIN2 ESRP1 EZR FAM131B FCHSD1 FEV FIP1L1 FLI1 FN1 FNDC3B FOXO1 FOXO3 FOXO4 FRYL GABBR2 GAS7 GATM GNAI1 GOLGA4 GOLGA5 GOPC GPBP1L1 GPHN HACL1 HERPUD1 HIP1 HLA-A HNF4G HNRNPA2B1 HOOK3 IRF2BP2 ITPR2 KAT6A KIAA1524 KIAA1549 KIAA1598 KLC1 KLK2 KTN1 LASP1 LMNA LPP LRIG3 LSM14A MAGI3 MAPRE1 MBIP MKRN1 MLLT1 MLLT10 MLLT11 MLLT3 MLLT4 MLLT6 MN1 MSN MYO1F MYO5A NACC2 NCKIPSD NCOA1 NCOA2 NCOA4 NDRG1 NFATC1 NFATC2 NFIA NFIX NONO NOP2 NPM1 NUP214 OFD1 OXR1 P2RY8 PAN3 PATZ1 PAX8 PCDH11X PCM1 PDS5A PICALM PLAG1 PML POU5F1- PPFIBP1 PRCC PRKAR1A PTPRK PTPRZ1 PURB PVT1 PWWP2A QKI RAD51 RANBP2 RBPMS RNF130 RUNX1T1 SARNP SDC4 SEC16A SEC22B SEC31A SEPT14 SEPT2 SEPT5 SEPT6 SEPT9 SFPQ SH3GL1 SLC34A2 SLC45A3 SMARCA5 SND1 SORBS2 SP3 SQSTM1 SRGAP3 STRN TACC1 TACC3 TADA2A TBL1XR1 TCF12 TCF3 TET1 TFG TOP3A TP53 TP63 TPM3 TPM4 TRAF2 TRIM24 TRIM27 TRIM33 TRIM63 TRIO VCL WT1 YAP1 YY1 ZCCHC8 ZFYVE19 ZNF384 ZNF444 ZNF700 ZNF703 ZNF710 ZSCAN30

TUMOR SIGNATURE

O teste Tumor Signature avalia simultaneamente 421 genes do genoma e regiões de fusões de 50 genes, por meio do sequenciamento de nova geração, bem como a análise de instabilidade de microssatélites e carga mutacional (TMB, Tumor Mutational Burden). São avaliadas as seguintes alterações:

• alterações de nucleotídeo único (SNVs)
• pequenas inserções e deleções (INDELS)
• grandes amplificações e perdas gênicas (CNVs)
• fusões gênicas
• carga mutacional (Tumor Mutation Burden - TMB)
• instabilidade de microssatélites

Os resultados são acompanhados por um laudo interpretativo, com dados que incluem as mutações identificadas, as associações terapêuticas descritas e potenciais ensaios clínicos.

420 GENES

Lista dos 421 genes avaliados:

ABL1 ABL2 ACVR1 ACVR1B AKT1 AKT2 AKT3 ALK ALOX12B AMER1 ANKRD26 APC AR ARAF ARFRP1 ARID1A ARID1B ARID2 ASXL1 ASXL2 ATM ATR ATRX AURKA AURKB AXIN1 AXL B2M BAP1 BARD1 BCL10 BCL2 BCL2L1 BCL2L11 BCL2L2 BCL6 BCOR BCORL1 BLM BRAF BRCA1 BRCA2 BRD3 BRD4 BRIP1 BTG1 BTG2 BTK C11ORF30 CALR CARD11 CASP8 CBFB CBL CCND1 CCND2 CCND3 CCNE1 CD22 CD274 CD70 CD79A CD79B CDC73 CDH1 CDK12 CDK4 CDK6 CDK8 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEBPA CHEK1 CHEK2 CIC CREBBP CRKL CRLF2 CSF1R CSF3R CTCF CTLA4 CTNNA1 CTNNB1 CUL3 CUL4A CUX1 CXCR4 CYLD CYP17A1 DAXX DDR1 DDR2 DDX41 DICER1 DIS3 DNMT3A DNMT3B DOT1L EED EGFR EIF1AX EIF4A2 ELANE EP300 EPCAM EPHA3 EPHA5 EPHA7 EPHB1 EPHB4 ERBB2 ERBB3 ERBB4 ERCC2 ERCC4 ERG ERRFI1 ESR1 ETNK1 ETV1 ETV6 EZH2 FAM175A FAM46C FANCA FANCC FANCD2 FANCE FANCF FANCG FANCL FAS FAT1 FBXW7 FGF10 FGF12 FGF14 FGF19 FGF23 FGF3 FGF4 FGF6 FGFR1 FGFR2 FGFR3 FGFR4 FH FLCN FLT1 FLT3 FLT4 FOXA1 FOXL2 FOXO1 FOXP1 FRS2 FUBP1 GABRA6 GATA1 GATA2 GATA3 GATA4 GATA6 GID4 GLI1 GNA11 GNA13 GNAQ GNAS GPR124 GRIN2A GRM3 GSK3B GSTP1 H3F3A HDAC1 HGF HIST1H1C HIST1H3B HNF1A HRAS HSD3B1 HSP90AA1 ID3 IDH1 IDH2 IGF1R IGF2 IKBKE IKZF1 IL7R INHBA INPP4B IRF2 IRF4 IRS2 JAK1 JAK2 JAK3 JUN KAT6A KDM5A KDM5C KDM6A KDR KEAP1 KEL KIT KLF4 KLHL6 KMT2A KMT2C KMT2D KRAS LMO1 LRP1B LTK LYN MAF MAP2K1 MAP2K2 MAP2K4 MAP3K1 MAP3K13 MAPK1 MAX MCL1 MDM2 MDM4 MED12 MEF2B MEN1 MERTK MET MITF MKNK1 MLH1 MLL3 MPL MRE11 MSH2 MSH3 MSH6 MST1R MTAP MTOR MUTYH MYC MYCL MYCN MYD88 MYOD1 NBN NCOA3 NCOR1 NF1 NF2 NFE2L2 NFKBIA NKX2-1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NPM1 NRAS NSD1 NT5C2 NTRK1 NTRK2 NTRK3 NUP93 P2RY8 PAK1 PAK3 PALB2 PARK2 PARP1 PARP2 PARP3 PAX5 PBRM1 PDCD1 PDCD1LG2 PDGFRA PDGFRB PDK1 PHF6 PHOX2B PIK3C2B PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIM1 PLCG2 PMS1 PMS2 POLD1 POLE PPARG PPM1D PPP2R1A PPP2R2A PPP6C PRDM1 PRKAR1A PRKCI PRKDC PRSS8 PTCH1 PTEN PTPN11 PTPRD PTPRO PTPRT QKI RAB35 RAC1 RAD21 RAD50 RAD51 RAD51B RAD51C RAD51D RAD52 RAD54L RAF1 RANBP2 RARA RASA1 RB1 RBM10 RECQL4 REL RET RHEB RHOA RICTOR RIT1 RNF43 ROS1 RPTOR RUNX1 RUNX1T1 SDHA SDHB SDHC SDHD SETBP1 SETD2 SF3B1 SGK1 SH2B3 SMAD2 SMAD3 SMAD4 SMARCA4 SMARCB1 SMC3 SMO SNCAIP SOCS1 SOX10 SOX2 SOX9 SPEN SPOP SRC SRP72 SRSF2 STAG2 STAT3 STAT4 STAT5B STK11 SUFU SYK TAF1 TBX3 TCF3 TEK TERT TET1 TET2 TGFBR1 TGFBR2 TIPARP TMPRSS2 TNFAIP3 TNFRSF14 TOP1 TOP2A TP53 TP63 TSC1 TSC2 TSHR TXNRD2 TYMS TYRO3 U2AF1 VEGFA VHL WHSC1 WHSC1L1 WISP3 WT1 XPO1 XRCC2 YAP1 ZNF217 ZNF703 ZRSR2