Solid tumors in adults + HRD testing

Test designed for the analysis of the main cancer biomarkers using the Action ST panel, including genes BRCA1 and BRCA2, followed by genomic instability (GIS) analysis using low-pass whole-genome sequencing (sWGS) to obtain the HRD score.

Sequencing the Action ST OncoKit panel:

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: Detection of genome instability using sWGS

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, followed by genomic instability (GIS) analysis using low-pass whole-genome sequencing (sWGS) to obtain the HRD score.

To detect genomic instability (GIS), low-pass whole-genome sequencing (sWGS) is performed, and the SeqOne algorithm is used to calculate the HRD score. 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.(1)

(1) Boidot, Romain et al. “Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer”. European Journal of Cancer (Oxford, England : 1990), vol. 202 113978. 2 Mar. 2024, doi:10.1016/j.ejca.2024.11397

Turnaround time (TAT): 15 working days

Ref. S-202414444

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 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.

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).

Detection of genomic instability (GIS) by sWGS using the SeqOne algorithm:

  • HRD-positive status in patients with values ≥0.5
  • HRD-negative status in patients with values <0.5
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

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Solid tumors in adults + HRD testing

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