SEQUENCIAMENTO DIGITAL
GENES ANALISADOS
Mutações Pontuais (SNVs) (74 genes) : AKT1, BRAF, CDK4, ESR1, GNA11, JAK2, MAPK3/ERK1, NFE2L2, PIK3CA, RHOA, TP53, ALK, BRCA1, CDK6, EZH2, GNAQ, JAK3, MET, NOTCH1, PTEN, RIT1, TSC1, APC, BRCA2, CDKN2A, FBXW7, GNAS, KIT, MLH1, NP1, PTPN11, ROS1, VHL, AR, CCND1, CTNNB1, FGFR1, HNF1A, KRAS, MPL, NRAS, RAF1, SMAD4, ARAF, CCND2, DDR2, FGFR2, HRAS, MAP2K1/MEK1, MTOR, NTRK1, RB1, SMO, ARID1A, CCNE1, EGFR, FGFR3, IDH1, MAP2K2/MEK2, MYC, NTRK3, RET, STK11, ATM, CDH1, ERBB2(HER2), GATA3, IDH2, MAPK1/ERK2, NF1, PDGFRA, RHEB, TERT, (inclui, região, promotora)
Indel (23 genes)
APC, BRCA1, CDH1, EGFR, GATA3, MET, MTOR, PDGFRA, RB1, STK11, TSC11, ATM, ARID1A, BRCA2, CDKN2A, ERBB2, KIT, MLH1, F1, PTEN, SMAD4, TP53, VHL
Amplificações (18 genes)
AR, CCND1, CCNE1, CDK6, ERBB2, FGR2, KRAS, MYC, PIK3CA, BRAF, CCND2, CDK4, EGFR, FGFR1, KIT, MET, PDGFRA, RAF1
Fusões (6 genes)
ALK, FGFR2, FGFR3, NTRK1, RET, ROS1
MSI (Instabilidade de microssatélites)