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