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 ST OncoKit has been specifically designed to study adult solid tumors, 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 that either are approved by international organizations such as the FDA (Food & Drug Administration) and the EMA (European Medicines Agency) or are currently in their final phases of clinical trial testing.

This panel is designed as a single test that can be performed on DNA from paraffin-embedded tissue samples to obtain integrated information about different types of actionable biomarkers: SNVs, gene fusions, CNVs, pharmacogenetics-related variants, and microsatellite instability (MSI).

Study of HRD Score: pan-cancer panel + GIS

HRD is an emerging biomarker with predictive and prognostic value for high-grade advanced-stage epithelial ovarian cancer (FIGO stages III and IV), fallopian tube cancer, and primary peritoneal cancer that allows analyzing the sensitivity of the response to PARP inhibitor therapy.

This test analyzes the main biomarkers for ovarian cancer recommended by the U.S National Comprehensive Cancer Network (NCCN) guidelines, including BRCA1 and BRCA2, ollowed by genomic instability (GIS) analysis by low-pass genome (sWGS) to obtain the HRD score.

To detect genomic instability by sWGS, the SeqOne algorithm is used to calculate genomic instability (GIS); this algorithm has been validated against 368 samples from the PAOLA-1 clinical trial and compared against the Myriad test, showing 95% concordance. These results were assessed based on progression-free survival.

  • HRD+ in patients with GIS values ≥0.5
  • HRD- in patients with GIS values ‹0.5

Turnaround time (TAT): 15 working days

Ref. S-202009824

Full sequencing (56 genes)
  • ALK
  • ARID1A
  • ATM
  • ATRX
  • BAP1
  • BARD1
  • BRAF
  • BRCA1
  • BRCA2
  • BRIP1
  • CDH1
  • CHEK2
  • CTNNB1
  • EGFR
  • ERBB2
  • ESR1
  • FGFR1
  • FGFR2
  • FGFR3
  • FGFR4
  • GNA11
  • GNAQ
  • H3F3A
  • HIST1H3B
  • HIST1H3H
  • HRAS
  • IDH1
  • IDH2
  • KIT
  • KRAS
  • MAP2K1
  • MET
  • MLH1
  • MSH2
  • MSH6
  • MTOR
  • MYC
  • NRAS
  • PALB2
  • PDGFRA
  • PIK3CA
  • PMS2+5’UTR
  • POLD1
  • POLE
  • PTEN
  • RAD51C
  • RAD51D
  • RB1
  • RET
  • ROS1
  • SDHA
  • SDHB
  • SDHD
  • TERT+5’UTR
  • TP53
  • VHL

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

Sequenced regions also include hotspot regions in genes TSC1 and TSC2 (36 regions in total), variant E17K in AKT1, and 7 regions in genes NTRK1 and NTRK3.

  • CYP2D6
  • CYP2C9
  • DPYD
  • MTHFR
  • TPMT
  • UGT1A1

The panel also includes the detection of variants related to patient pharmacogenetics, which is directly involved in the response to chemotherapy treatments. Different alterations that may affect response to treatment of tumors of different origins are tested for in 6 genes.

  • ALK
  • BRAF
  • EGFR
  • ETV6-NTRK3
  • FGFR2
  • FGFR3
  • NTRK1
  • NTRK2
  • ROS1
  • RET

Capture of 10 fusion genes covering all possible rearrangements; to this end, Action ST OncoKit includes those intronic regions where breakpoints have commonly been identified in the literature.

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

CNVs (copy number variations): detection of CNVs throughout the whole genome (detection of hypo- and hyperploidias), from a whole gene included in the panel to large CNVs, even encompassing whole chromosome arms or whole chromosomes. Moreover, this test has been improved using a low-density SNP array through the capture of >500 SNPs distributed across the 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).