Personalized medicine, which aims to help make the best clinical decisions for each patient, requires a broad perspective that integrates the clinical, histological, and molecular aspects of each case.

Molecular studies are highly recommended for the majority of tumors, since they allow determining the diagnosis and prognosis or even guiding towards more efficient and less toxic therapies. To achieve this, it is essential to provide information with a sufficiently proven degree of evidence to be used in clinical decision-making.

Action OncoKitDx has been specifically designed to study solid tumors in adults, regardless of their stage or subtype, both at diagnosis and at relapse. It allows detecting genetic markers that are useful to determine diagnosis, prognosis, and sensitivity or resistance to therapies either approved by international organizations such as the FDA (Food & Drug Administration) and the EMA (European Medicines Agency) or are currently in late phases of clinical trial testing.

This panel is designed as a single test that can be performed on fresh or paraffin-embedded tumor samples to obtain integrated information about different types of actionable biomarkers: SNVs, fusions, CNVs, MSI, and pharmacogenetics.

Whole sequence (56 genes)
  • AKT1 (E17K)
  • ALK
  • ARID1A
  • ATM
  • ATRX
  • BAP1
  • BRAF
  • BRCA1
  • BRCA2
  • CDH1
  • CTNNB1
  • CHEK2
  • EGFR
  • ERBB2/HER2
  • ESR1
  • FGFR1
  • FGFR2
  • FGFR3
  • FGFR4
  • GNA11
  • GNAQ
  • H3F3A
  • HIST1H3B
  • HIST1H3H
  • HRAS
  • IDH1
  • IDH2
  • KIT
  • KRAS
  • MAP2K1
  • MET
  • MLH1
  • MSH2
  • MSH6
  • MTOR
  • MYC
  • NRAS
  • NTRK1
  • NTRK2
  • NTRK3
  • PALB2
  • PBRM1
  • PDGFRA
  • PIK3CA
  • PMS2
  • PTEN
  • POLD1
  • POLE
  • RET
  • ROS1
  • SDHA
  • SDHB
  • SDHD
  • TERT (con promotor)
  • TP53
  • VHL

Mutations (SNVs)

Sequencing of the whole coding region of the 56 most relevant genes for clinical practice related to solid tumors in adults.

Pharmacogenetics (7 genes)
  • CYP2D6
  • CYP2C9
  • DPYD
  • MTHFR
  • TPMT
  • UGT1A1
  • XRCC1

Pharmacogenetics associated with toxicity or efficacy of treatments used in oncology

The panel also includes the detection of variants related to patient pharmacogenetics, which is directly involved in the response to chemotherapy treatments. Different alterations in seven genes that affect response to treatment for tumors of different origins are analyzed, including: DPYD (rs3918290, rs67376798, rs55886062, rs115232898, y rs75017182), XRCC1 (rs25487), UGT1A1 (rs4148323), CYP2D6 (rs3892097 y rs5030655), MTHFR (rs1801133), TPMT (rs1142345, rs1800460, rs1800584 y rs1800462), CYP2C9 (rs1799853 and rs1057910).

Fusions (11 genes)
  • ALK
  • BRAF
  • EGFR
  • ETV6 (NTRK3)
  • FGFR2
  • FGFR3
  • ATP1B1 (NRG1)
  • NTRK1
  • NTRK2
  • ROS1
  • RET

Structural variants

In order to capture eleven fusion genes and cover all their possible rearrangements, Action OncoKitDx includes those intronic regions where breakage points have commonly been identified in the literature. The covered genes and regions are: ALK (intron 19), ATP1B1 (introns 3 and 4), BRAF (introns 7, 8, 9 and 10), EGFR (introns 7, 23, 24 and 25), ETV6 (introns 4 and 5), FGFR2 (intron 17 and region 3’UTR), FGFR3 (intron 17 and region 3’UTR), NTRK1 (introns 8, 9, 10, 11 and 12), NTRK2 (introns 12 and 15), RET (introns 9, 10 and 11) and ROS1 (introns 31, 32, 33, 34 and 35).

Microsatellite instability (MSI)

Analysis of 110 markers

Microsatellite instability testing (MSI) through a 110-microsatellite panel that allows detecting MSI based on NGS results. MSI testing with this panel corresponds with Bethesda panel in >99% of cases.

CNVs (Copy Number Variants)

Analysis of gene loss and gain on the whole genome

Detection of CNVs throughout the whole genome, from single genes to large CNVs even involving whole arms of whole chromosomes. Moreover, this analysis has been improved using a low-density SNP array through the capture of >500 SNPs distributed throughout the whole genome. This allows both validating the obtained results and detecting alterations where loss of heterozygosity has occurred but copy number has been neutralized by a duplication (copy-neutral LOH).